chr9:5073770:G>T Detail (hg19) (JAK2, INSL6)

Information

Genome

Assembly Position
hg19 chr9:5,073,770-5,073,770
hg38 chr9:5,073,770-5,073,770 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001322194.1:c.1849G>T NP_001309123.1:p.Val617Phe
NM_001322195.1:c.1849G>T NP_001309124.1:p.Val617Phe
NM_001322196.1:c.1849G>T NP_001309125.1:p.Val617Phe
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 20
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 147796 OMIM
HGNC 6192 HGNC
Ensembl ENSG00000096968 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv35314592 TogoVar
COSMIC COSM12600 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided fundus of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
Pathogenic Others germline MGS000038
(TMGS000091) 		Manabu Muto
Ichiro Kinoshita		 Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
Pathogenic other somatic MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-03-26 criteria provided, conflicting interpretations Acquired polycythemia vera somatic germline Detail
Pathogenic 2022-11-24 criteria provided, multiple submitters, no conflicts Primary myelofibrosis somatic unknown Detail
Pathogenic Likely pathogenic 2014-10-02 no assertion criteria provided acute myeloid leukemia somatic Detail
risk factor 2014-08-07 no assertion criteria provided Budd-Chiari syndrome, susceptibility to, somatic somatic Detail
Likely pathogenic 2022-10-03 criteria provided, single submitter Thrombocythemia 3 somatic germline Detail
Affects 2014-08-07 no assertion criteria provided Primary familial polycythemia due to EPO receptor mutation somatic Detail
not provided 2016-03-10 no assertion provided chronic myelogenous leukemia, BCR-ABL1 positive somatic Detail
Pathogenic Likely pathogenic 2016-05-13 no assertion criteria provided Myeloproliferative disorder unknown somatic Detail
not provided 2016-03-10 no assertion provided Subacute lymphoid leukemia somatic Detail
Pathogenic 2018-10-31 criteria provided, single submitter Thrombocythemia 3,acute myeloid leukemia,Acquired polycythemia vera,Primary myelofibrosis,Budd-Chiari syndrome,Primary familial polycythemia due to EPO receptor mutation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Thrombocythemia 3,acute myeloid leukemia,Acquired polycythemia vera,Primary myelofibrosis,Budd-Chiari syndrome,Primary familial polycythemia due to EPO receptor mutation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Thrombocythemia 3,acute myeloid leukemia,Acquired polycythemia vera,Primary myelofibrosis,Budd-Chiari syndrome,Primary familial polycythemia due to EPO receptor mutation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Thrombocythemia 3,acute myeloid leukemia,Acquired polycythemia vera,Primary myelofibrosis,Budd-Chiari syndrome,Primary familial polycythemia due to EPO receptor mutation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Thrombocythemia 3,acute myeloid leukemia,Acquired polycythemia vera,Primary myelofibrosis,Budd-Chiari syndrome,Primary familial polycythemia due to EPO receptor mutation unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Thrombocythemia 3,acute myeloid leukemia,Acquired polycythemia vera,Primary myelofibrosis,Budd-Chiari syndrome,Primary familial polycythemia due to EPO receptor mutation unknown Detail
Likely pathogenic no assertion criteria provided Primary myelofibrosis unknown Detail
Pathogenic no assertion criteria provided polycythemia unknown Detail
Pathogenic Likely pathogenic 2024-01-20 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
obsolete lymphoid leukemia B Diagnostic Supports Negative Somatic 4 16081687 Detail
polycythemia vera B Predictive Supports Sensitivity/Response Somatic 4 16709929 Detail
polycythemia vera Fedratinib D Predictive Supports Sensitivity/Response Somatic 3 18394554 Detail
chronic myeloid leukemia B Diagnostic Supports Positive Somatic 4 16081687 Detail
bone marrow cancer B Diagnostic Supports Positive Somatic 4 19287384 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Eosinophilia Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
0.001 Eosinophilia Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
0.001 Eosinophilic disorder Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
<0.001 Mastocytosis, Systemic Control experiments showed that 10 indolent SM patients without associated MPD d... BeFree 18165278 Detail
0.001 Eosinophilic disorder Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
<0.001 Hypereosinophilia KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of ... BeFree 26017288 Detail
<0.001 Hypereosinophilia KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of ... BeFree 26017288 Detail
0.003 Hypereosinophilia We therefore investigated 426 samples from patients with hypereosinophilia of un... BeFree 26017288 Detail
0.001 Disorder characterized by eosinophilia Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
0.001 Disorder characterized by eosinophilia Thus, there is a clear prognostic and therapeutic rationale for detection of KIT... BeFree 26017288 Detail
0.009 polycythemia vera In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.051 Primary myelofibrosis Histopathological categories ET and prefibrotic PMF correlate with significant d... BeFree 19616600 Detail
<0.001 anemia When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, t... BeFree 17408465 Detail
0.289 Thrombocythemia, Essential The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W5... BeFree 17920754 Detail
0.008 Chronic myeloproliferative disorder Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that ... BeFree 18479730 Detail
0.002 Myeloproliferative disease As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive ... BeFree 18464114 Detail
0.352 Myeloproliferative disease As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive ... BeFree 18464114 Detail
0.004 polycythemia vera In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.139 thrombocytosis In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.462 Thrombocythemia, Essential Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MP... BeFree 21228032 Detail
0.008 Thrombocythemia, Essential In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.001 anemia When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, t... BeFree 17408465 Detail
<0.001 Chronic myeloproliferative disorder Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that ... BeFree 18479730 Detail
0.005 Thrombocythemia, Essential In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.046 Chronic myeloproliferative disorder Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that ... BeFree 18479730 Detail
<0.001 Chronic myeloproliferative disorder Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that ... BeFree 18479730 Detail
0.146 polycythemia vera In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.289 Thrombocythemia, Essential JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocy... BeFree 20890078 Detail
0.164 thrombocytosis In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.462 Thrombocythemia, Essential JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocy... BeFree 20890078 Detail
0.462 Thrombocythemia, Essential The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W5... BeFree 17920754 Detail
0.289 Thrombocythemia, Essential Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MP... BeFree 21228032 Detail
0.002 thrombocytosis In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.294 Primary myelofibrosis Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with ... BeFree 25176567 Detail
0.294 Primary myelofibrosis Association of V617F Jak2 mutation with the risk of thrombosis among patients wi... BeFree 19299003 Detail
0.007 chronic lymphocytic leukemia Absence of the V617F JAK2 mutation in the lymphoid compartment in a patient with... BeFree 19816006 Detail
0.352 Myeloproliferative disease The prevalence of overt MPN and that of JAK2 V617F were lower in Korean patients... BeFree 21435189 Detail
0.294 Primary myelofibrosis The JAK2 V617F mutation was less common on the border of statistical significanc... BeFree 24084459 Detail
0.229 myelofibrosis The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... BeFree 16919893 Detail
0.149 polycythemia Four novel JAK2 mutant alleles have recently been described in patients with V61... BeFree 18055983 Detail
<0.001 Xenograft Model We recently developed a Janus kinase 2 (Jak2) small molecule inhibitor called G6... BeFree 22796437 Detail
0.002 Thrombocythemia, Essential Using novel mutation-specific PCR which is a highly sensitive PCR-based assay fo... BeFree 18612778 Detail
0.002 Primary myelofibrosis Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such ... BeFree 23445613 Detail
0.005 leukemia Mutations in the thrombopoietin receptor gene (myeloproliferative leukemia, MPL)... BeFree 21326037 Detail
0.666 polycythemia vera JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featur... BeFree 25116092 Detail
0.001 anemia Apoptotic resistance in MMM correlated with anemia (P=0.01) and the JAK2-V617F (... BeFree 16871275 Detail
0.046 Chronic myeloproliferative disorder Accordingly, the WHO concept of two distinct entities, ET and prefibrotic IMF, d... BeFree 18092959 Detail
<0.001 Thrombocythemia, Essential Recently, it has become clear that patients meeting WHO criteria for RARS-T have... BeFree 19120370 Detail
0.164 thrombocytosis Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses... BeFree 17285276 Detail
0.666 polycythemia vera Polycythemia vera and the Jak2(V617F) mutation in a case of hereditary spherocyt... BeFree 23588264 Detail
0.006 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative Atypical chronic myeloid leukemia as defined in the WHO classification is a JAK2... BeFree 18555525 Detail
0.666 polycythemia vera Indeed the mutation mediates a PV-like phenotype but with regard to myelofibrosi... BeFree 17587878 Detail
0.666 polycythemia vera We recently developed a Janus kinase 2 (Jak2) small molecule inhibitor called G6... BeFree 22796437 Detail
<0.001 mastocytosis A JAK2 V617F mutation was identified in one patient who had acute myeloid leukem... BeFree 20153505 Detail
<0.001 Liver diseases The aim of this study was to describe the prevalence of main hereditary thrombop... BeFree 22684349 Detail
0.294 Primary myelofibrosis The frequency of JAK2-V617F mutation in patients with polycythaemia vera, essent... BeFree 18336541 Detail
0.294 Primary myelofibrosis The JAK2(V617F) mutation is present in the majority of patients with polycythemi... BeFree 22065597 Detail
0.164 thrombocytosis A 66-year-old man who presented with progressive and marked thrombocytosis but n... BeFree 20633767 Detail
0.002 Primary myelofibrosis JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV... BeFree 20966521 Detail
0.016 Myeloid Leukemia, Chronic In the present study, we used mice with a conditional null mutation in the Stat5... BeFree 22234689 Detail
0.149 polycythemia The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocyto... BeFree 16503548 Detail
0.020 Leukemia, Myelomonocytic, Chronic TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (... BeFree 19474426 Detail
0.352 Myeloproliferative disease The JAK2 V617F mutational status and allele burden may be related with the risk ... BeFree 25559461 Detail
<0.001 Xenograft Model In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myelopro... BeFree 25479752 Detail
<0.001 Chronic liver disease We report a case of a 62-year-old black man with progressive abdominal swelling ... BeFree 25834519 Detail
0.051 Primary myelofibrosis Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
0.294 Primary myelofibrosis V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofib... BeFree 16293597 Detail
0.294 Primary myelofibrosis Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2) V617F mu... BeFree 17389152 Detail
0.004 Acute Erythroblastic Leukemia Using this assay and serial dilutions of an erythroleukemia cell line harboring ... BeFree 17022694 Detail
0.051 Primary myelofibrosis In essential thrombocythemia, 154 (53%) Janus kinase 2 V617F, 96 (33%) calreticu... BeFree 24895336 Detail
0.294 Primary myelofibrosis Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extrame... BeFree 20859081 Detail
0.462 Thrombocythemia, Essential Comparison of clinicopathologic findings according to JAK2 V617F mutation in pat... BeFree 19093167 Detail
0.462 Thrombocythemia, Essential We conclude that megakaryocytes might be the predominant or even the exclusive l... BeFree 17262192 Detail
0.125 Thromboembolism The JAK2 V617F mutational status and allele burden may be related with the risk ... BeFree 25559461 Detail
<0.001 Myeloproliferative disease Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better... BeFree 25012914 Detail
0.164 thrombocytosis We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c m... BeFree 17145859 Detail
0.666 polycythemia vera A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine a... BeFree 16210033 Detail
0.462 Thrombocythemia, Essential The MPNs include polycythemia vera (PV), essential thrombocythemia (ET), and pri... BeFree 23430670 Detail
0.248 Thrombocythemia, Essential JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featur... BeFree 25116092 Detail
0.352 Myeloproliferative disease In contrast, this same mutation has been detected in only 4 patients with CNL to... BeFree 23391844 Detail
0.666 polycythemia vera Dysregulated signaling is a hallmark of chronic myeloproliferative neoplasms (MP... BeFree 21082983 Detail
0.294 Primary myelofibrosis An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patie... BeFree 17296581 Detail
0.229 myelofibrosis Janus kinase 2 (V617F) mutation status, signal transducer and activator of trans... BeFree 16871275 Detail
<0.001 Non-Neoplastic Disorder Fli-1 protein expression by myeloid progenitors was considerably heterogenous in... BeFree 16930139 Detail
<0.001 myelofibrosis In conclusion, a simple model which includes: age, JAK2 V617F-status and constit... BeFree 22280409 Detail
0.462 Thrombocythemia, Essential The Janus-associated Kinase-2 mutation JAK2 V617F in chronic myeloproliferative ... BeFree 20966521 Detail
0.002 polycythemia vera Molecular profiling must include the analysis of JAK2 (looking for the V617F poi... BeFree 25189723 Detail
0.229 myelofibrosis This study revealed that CALR mutant essential thrombocythemia is associated wit... BeFree 25934766 Detail
0.018 myeloid leukemia The association of V617F JAK2 expression levels with disease behavior has not be... BeFree 19254349 Detail
0.002 lymphoma It is hoped that the same will happen in other MPN with specific genetic alterat... BeFree 19175693 Detail
0.294 Primary myelofibrosis We found twelve individuals with the JAK2 V617F mutation; five of them had been ... BeFree 25637689 Detail
0.229 myelofibrosis JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (3... BeFree 19277418 Detail
0.294 Primary myelofibrosis Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) m... BeFree 25912019 Detail
0.666 polycythemia vera LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-reg... BeFree 21950422 Detail
0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplas... BeFree 20538800 Detail
<0.001 Refractory anemia, without ringed sideroblasts, without excess blasts Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refr... BeFree 20194893 Detail
0.666 polycythemia vera The frequency of the JAK2 (V617F) mutation varied between the MPD subtypes, with... BeFree 22555824 Detail
0.462 Thrombocythemia, Essential The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% ... BeFree 22333011 Detail
0.352 Myeloproliferative disease The major incentives for this review have been the recent description of an acti... BeFree 16456375 Detail
0.352 Myeloproliferative disease Presence of JAK2(V617F) in bone marrow might therefore increase the risk of futu... BeFree 18032883 Detail
<0.001 Xenograft Model In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myelopro... BeFree 25479752 Detail
<0.001 Chronic myeloproliferative disorder STAT5 activation is critical for the transformation mediated by myeloproliferati... BeFree 20028972 Detail
0.051 Primary myelofibrosis We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.001 Mesenteric Venous Thrombosis The JAK2 V617F mutation frequently occurs in patients with portal and mesenteric... BeFree 17059429 Detail
0.001 myelofibrosis The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... BeFree 16919893 Detail
0.001 Acute Megakaryocytic Leukemias We hypothesized that the JAK2 V617F mutation might also be present in samples fr... BeFree 16598306 Detail
0.004 juvenile myelomonocytic leukemia In addition, Bcr/Abl-negative classic myeloproliferative disorders are character... BeFree 16781478 Detail
0.125 Thromboembolism The aim of this study was to clarify whether JAK2(V617F) PV with thromboembolism... BeFree 18972067 Detail
0.352 Myeloproliferative disease The JAK2-V617F mutation can be frequently detected in the Taiwanese patients wit... BeFree 18336541 Detail
<0.001 Primary Myelofibrosis, Prefibrotic Stage JAK2(V617F) allele burden discriminates essential thrombocythemia from a subset ... BeFree 19616600 Detail
0.352 Myeloproliferative disease Recent studies have identified a recurrent somatic activating mutation (JAK2 V61... BeFree 22132729 Detail
0.462 Thrombocythemia, Essential Catastrophic intra-abdominal thrombosis can result from a variety of prothrombot... BeFree 17439832 Detail
<0.001 Myeloproliferative disease Critical roles of Myc-ODC axis in the cellular transformation induced by myelopr... BeFree 23300995 Detail
0.666 polycythemia vera Correlations are emerging between leukocytosis, JAK2(V617F) mutation, BM fibrosi... BeFree 22611155 Detail
0.289 Thrombocythemia, Essential Molecular profiling must include the analysis of JAK2 (looking for the V617F poi... BeFree 25189723 Detail
0.125 Thromboembolism The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thromboc... BeFree 20551270 Detail
0.010 Erythrocytosis Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
<0.001 Myeloproliferative disease Recently, a single gain-of-function point mutation of JAK2 was described in myel... BeFree 20966544 Detail
0.002 Primary myelofibrosis In this context, the distinctive role of a positive JAK2(V617F) mutation for the... BeFree 19605821 Detail
0.002 myelofibrosis Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such ... BeFree 23445613 Detail
0.462 Thrombocythemia, Essential Evaluation of clinical and laboratory findings with JAK2 V617F mutation as an in... BeFree 25012914 Detail
0.003 myelofibrosis Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT ... BeFree 23445613 Detail
0.046 Chronic myeloproliferative disorder Molecular mimicry in the chronic myeloproliferative disorders: reciprocity betwe... BeFree 16912229 Detail
0.352 Myeloproliferative disease JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocy... BeFree 17687555 Detail
<0.001 Myeloproliferative disease MPD-specific markers such as serum EPO, endogenous erythroid colony formation (E... BeFree 16810609 Detail
0.008 Thrombocythemia, Essential Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic... BeFree 22847163 Detail
0.229 myelofibrosis The recently identified JAK2(V617F) mutation is frequently present in the classi... BeFree 18048969 Detail
0.001 chronic eosinophilic leukemia Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocyt... BeFree 15860661 Detail
0.352 Myeloproliferative disease The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors ... BeFree 22579713 Detail
0.462 Thrombocythemia, Essential Influence of the JAK2 V617F mutation and inherited thrombophilia on the thrombot... BeFree 19336736 Detail
0.294 Primary myelofibrosis We investigated this question using conditional JAK2(V617F) knock-in mice with c... BeFree 24951423 Detail
0.046 Chronic myeloproliferative disorder The JAK2 V617F mutation is found in most patients with a myeloproliferative neop... BeFree 20489053 Detail
0.229 myelofibrosis JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofib... BeFree 20650526 Detail
0.462 Thrombocythemia, Essential Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential t... BeFree 16916724 Detail
0.294 Primary myelofibrosis Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutat... BeFree 19713696 Detail
0.289 Thrombocythemia, Essential Recently, it has become clear that patients meeting WHO criteria for RARS-T have... BeFree 19120370 Detail
0.124 juvenile myelomonocytic leukemia Mutations in TET2, RUNX1 and JAK2(V617F) are involved in myelodysplastic and/or ... BeFree 20955399 Detail
0.294 Primary myelofibrosis Allele-specific wild-type blocker quantitative PCR for highly sensitive detectio... BeFree 20354212 Detail
0.046 Chronic myeloproliferative disorder STAT5 activation is critical for the transformation mediated by myeloproliferati... BeFree 20028972 Detail
0.002 Secondary polycythemia We could confirm a very high sensitivity, specificity and utility of the Jak2(V6... BeFree 17852451 Detail
0.294 Primary myelofibrosis The V617F mutation in the JAK2 gene on chromosome 9p24.1 was identified recently... BeFree 17213018 Detail
0.462 Thrombocythemia, Essential Children and adults with sporadic ET showed a similar proportion of patients wit... BeFree 17369568 Detail
0.294 Primary myelofibrosis It is hoped that the same will happen in other MPN with specific genetic alterat... BeFree 19175693 Detail
0.012 polycythemia vera As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive p... BeFree 18616871 Detail
0.001 Mesenteric Venous Thrombosis Mesenteric venous thrombosis secondary to an unsuspected JAK2 V617F-positive mye... BeFree 19693645 Detail
<0.001 Myeloproliferative disease Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better... BeFree 25012914 Detail
0.002 Primary myelofibrosis JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a... BeFree 22234689 Detail
0.462 Thrombocythemia, Essential We recently developed a Janus kinase 2 (Jak2) small molecule inhibitor called G6... BeFree 22796437 Detail
0.294 Primary myelofibrosis Megakaryocytic morphology and clinical parameters in essential thrombocythemia, ... BeFree 25171702 Detail
0.002 stomach carcinoma The development of gastric cancer in a patient with polycythemia Vera, 3P deleti... BeFree 20306156 Detail
0.352 Myeloproliferative disease JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event assoc... BeFree 16998940 Detail
0.371 Myeloid Leukemia, Chronic Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic... BeFree 22847163 Detail
0.352 Myeloproliferative disease Methods for the detection of the JAK2 V617F mutation in human myeloproliferative... BeFree 16502590 Detail
0.001 Myeloid Leukemia, Chronic LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-reg... BeFree 21950422 Detail
0.002 Neoplasm, Residual QuanTAS-PCR is a simple, cost-efficient, closed-tube method for JAK2 V617F mutat... BeFree 23617802 Detail
0.352 Myeloproliferative disease Microfluidics-based assays can reduce the assay time and sample/reagent consumpt... BeFree 26235214 Detail
0.666 polycythemia vera Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential th... BeFree 22722988 Detail
0.352 Myeloproliferative disease We studied the sensitivity and reproducibility of LightScanner™ platform in the ... BeFree 20728437 Detail
<0.001 Myeloproliferative disease In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myelopro... BeFree 25479752 Detail
0.125 Thromboembolism The association between venous thrombosis outside the splanchnic area as well ar... BeFree 20616539 Detail
0.046 Chronic myeloproliferative disorder Incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral ... BeFree 17263783 Detail
0.229 myelofibrosis The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF). BeFree 17255768 Detail
<0.001 polycythemia vera Only the ZNF577 gene showed a differential methylation profile between PV JAK2 V... BeFree 21821860 Detail
0.229 myelofibrosis JAK2 V617F-positive ET/PV and CIMF should be distinguished from wild-type JAK2 E... BeFree 16810614 Detail
0.001 chronic neutrophilic leukemia Presence of the JAK2 V617F mutation in a patient with chronic neutrophilic leuke... BeFree 23391844 Detail
<0.001 Thrombocythemia, Essential These results support a role for platelet turnover, factor V, and aAPCR in the t... BeFree 19105233 Detail
0.002 Neoplasm, Residual Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a... BeFree 17565328 Detail
0.666 polycythemia vera We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.352 Myeloproliferative disease The discovery of an activating somatic mutation in codon 617 of the gene encodin... BeFree 18245540 Detail
0.229 myelofibrosis A longitudinal study of the JAK2(V617F) mutation in myelofibrosis with myeloid m... BeFree 16531268 Detail
<0.001 secondary acute myeloid leukemia TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (... BeFree 19474426 Detail
0.016 Myeloid Leukemia, Chronic Abnormal nuclear megakaryocytic staining for phospho-STAT5 (pSTAT5) correlates w... BeFree 18479730 Detail
0.666 polycythemia vera However it is not so easy, because iPSCs from hematological malignancies have be... BeFree 23807288 Detail
0.462 Thrombocythemia, Essential We report the case of an untreated 32-year-old woman with a history of JAK2 V617... BeFree 24582788 Detail
0.046 Chronic myeloproliferative disorder The acquired JAK2 V617F mutation is common in patients with myeloproliferative n... BeFree 25345590 Detail
0.666 polycythemia vera Patients with PV who were homozygous or heterozygous for JAK2-V617F exhibited hi... BeFree 16081684 Detail
0.294 Primary myelofibrosis The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... BeFree 16919893 Detail
<0.001 Primary myelofibrosis We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
<0.001 polycythemia vera In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... BeFree 26071474 Detail
0.149 polycythemia Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F... BeFree 17183644 Detail
0.294 Primary myelofibrosis Janus kinase 2 (V617F) mutation status, signal transducer and activator of trans... BeFree 16871275 Detail
0.294 Primary myelofibrosis JAK2 V617F genotype is a strong determinant of blast transformation in primary m... BeFree 23555782 Detail
0.294 Primary myelofibrosis We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative pa... BeFree 19643476 Detail
0.352 Myeloproliferative disease Altered gene expression in myeloproliferative disorders correlates with activati... BeFree 16081684 Detail
0.666 polycythemia vera Thus, mice developing PV secondary to constitutive JAK2(V617F) expression exhibi... BeFree 24951423 Detail
0.046 Chronic myeloproliferative disorder The classical Philadelphia chromosome-negative myeloproliferative neoplasms cons... BeFree 25259626 Detail
0.125 Thromboembolism JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P... BeFree 23116358 Detail
<0.001 disseminated eosinophilic collagen disease The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or ... BeFree 18024388 Detail
0.017 Myeloproliferative disease An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-neg... BeFree 16225651 Detail
0.229 myelofibrosis These changes and the resultant clinical research are discussed in this article ... BeFree 22463737 Detail
0.128 Myeloproliferative disease Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative ... BeFree 19466975 Detail
0.006 polycythemia vera Genetic or PAD-mediated PP2A reactivation induces Jak2(V617F) inactivation/downr... BeFree 23926298 Detail
0.294 Primary myelofibrosis Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable ... BeFree 19616600 Detail
0.294 Primary myelofibrosis 88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PM... BeFree 22304488 Detail
0.289 Thrombocythemia, Essential In a retrospective study, we examined the frequency of MPL and CALR mutations in... BeFree 25934766 Detail
0.462 Thrombocythemia, Essential Lastly, JAK2 V617F mutant allele burden was found much higher in polycythemia ve... BeFree 23469088 Detail
0.352 Myeloproliferative disease Myeloproliferative disorders (MPDs) are often associated with the presence of th... BeFree 19135773 Detail
0.352 Myeloproliferative disease Association between thromboembolic events and the JAK2 V617F mutation in myelopr... BeFree 24858412 Detail
0.046 Chronic myeloproliferative disorder A molecular fingerprint distinguishes JAK2(V617F)-positive MPN patients without ... BeFree 21331593 Detail
0.462 Thrombocythemia, Essential The clinical and pathological data on JAK2 V617F-positive MPD patients suggest t... BeFree 16810609 Detail
0.127 Primary myelofibrosis Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-... BeFree 24957246 Detail
0.462 Thrombocythemia, Essential MPL mutation testing is recommended in patients with suspected primary myelofibr... BeFree 23994117 Detail
0.666 polycythemia vera In the present study, we used mice with a conditional null mutation in the Stat5... BeFree 22234689 Detail
0.164 thrombocytosis The V617F JAK2 mutation was absent within the patients with secondary erythrocyt... BeFree 19939582 Detail
0.004 Primary myelofibrosis Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-... BeFree 24957246 Detail
<0.001 Myeloproliferative disease Finally, we show that IL-27R can functionally replace a homodimeric type I cytok... BeFree 18003935 Detail
<0.001 Chronic myeloproliferative disorder In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... BeFree 26071474 Detail
0.666 polycythemia vera To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myel... BeFree 16537803 Detail
0.462 Thrombocythemia, Essential JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia... BeFree 19691103 Detail
0.011 Thrombocythemia, Essential Children and adults with sporadic ET showed a similar proportion of patients wit... BeFree 17369568 Detail
0.352 Myeloproliferative disease Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better... BeFree 25012914 Detail
0.666 polycythemia vera Circulating endothelial cells in essential thrombocythemia and polycythemia vera... BeFree 20473593 Detail
0.001 Primary myelofibrosis AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia... BeFree 20339092 Detail
0.352 Myeloproliferative disease In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... BeFree 26071474 Detail
0.002 polycythemia vera In the present study, we used mice with a conditional null mutation in the Stat5... BeFree 22234689 Detail
0.666 polycythemia vera The results of the current clinical study support previous laboratory observatio... BeFree 16369984 Detail
0.010 Erythrocytosis These data suggest that erythrocytosis and granulocytosis in JAK2(V617F) mice ar... BeFree 17145859 Detail
0.666 polycythemia vera The frequency of JAK2-V617F mutation in patients with polycythaemia vera, essent... BeFree 18336541 Detail
0.294 Primary myelofibrosis The JAK2 V617F mutation has been implicated in a variety of diseases mainly rela... BeFree 18781401 Detail
0.014 thrombophilia Among the patients without overt CMD or thrombophilia and with unprovoked thromb... BeFree 17263783 Detail
0.002 myelofibrosis Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such ... BeFree 23445613 Detail
0.462 Thrombocythemia, Essential JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocy... BeFree 17687555 Detail
0.002 Refractory anemia, without ringed sideroblasts, without excess blasts Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
0.462 Thrombocythemia, Essential The JAK2 V617F mutation has recently been described as an essential oncogenic ev... BeFree 16954506 Detail
0.248 Thrombocythemia, Essential Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-... BeFree 24957246 Detail
0.229 myelofibrosis Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
0.046 Chronic myeloproliferative disorder The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in dive... BeFree 19167611 Detail
0.462 Thrombocythemia, Essential The high prevalence of the V617F mutation of Janus kinase 2 and associated mutat... BeFree 18300758 Detail
<0.001 Thrombocythemia, Essential We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
<0.001 Chromosome 8, trisomy Furthermore, the molecular markers trisomy 8 and JAK2 V617F were found in the gr... BeFree 17082007 Detail
0.294 Primary myelofibrosis Novel treatment strategies are under investigation, including targeted inhibitio... BeFree 20425385 Detail
0.128 Leukemia, Myelocytic, Acute Thus, while JAK2 V617F is uncommon in de novo AML and probably does not occur in... BeFree 16598306 Detail
0.002 Malignant neoplasm of prostate Activating mutation (V617F) in the tyrosine kinase JAK2 is absent in locally-con... BeFree 20966544 Detail
0.294 Primary myelofibrosis Given that the identical somatic activating mutation in the JAK2 tyrosine kinase... BeFree 19287384 Detail
<0.001 Pruritus However, compared with their heterozygote counterparts, JAK2(V617F) homozygote p... BeFree 16369984 Detail
0.248 Thrombocythemia, Essential Frequency and allele burden of CALR mutations in Chinese with essential thromboc... BeFree 25746303 Detail
0.009 Primary myelofibrosis The present data suggests the JAK2 V617F allele burden as a key determinant of t... BeFree 17961178 Detail
0.462 Thrombocythemia, Essential The recent discovery of mutations within the CALR gene in up to 80% of JAK2 V617... BeFree 25259626 Detail
<0.001 Granulocytosis These data suggest that erythrocytosis and granulocytosis in JAK2(V617F) mice ar... BeFree 17145859 Detail
0.256 Budd-Chiari syndrome Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferativ... BeFree 25698270 Detail
0.164 thrombocytosis The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count ... BeFree 21350094 Detail
<0.001 Acute Megakaryocytic Leukemias We hypothesized that the JAK2 V617F mutation might also be present in samples fr... BeFree 16598306 Detail
0.462 Thrombocythemia, Essential Plasma levels of angiogenic factors and circulating endothelial cells in essenti... BeFree 20615083 Detail
<0.001 Myeloproliferative disease STAT5 activation is critical for the transformation mediated by myeloproliferati... BeFree 20028972 Detail
0.462 Thrombocythemia, Essential It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majori... BeFree 22555824 Detail
<0.001 thrombocytosis The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count ... BeFree 21350094 Detail
0.462 Thrombocythemia, Essential JAK2(V617F), a mutant of tyrosine kinase JAK2, is found in most patients with po... BeFree 17178722 Detail
0.352 Myeloproliferative disease New insights into the pathogenesis of JAK2 V617F-positive myeloproliferative dis... BeFree 16810610 Detail
0.352 Myeloproliferative disease A new mutation (V617F) affecting the JAK2 gene has been recently described as ac... BeFree 17408106 Detail
0.666 polycythemia vera Therefore, although the presence of JAK2(V617F) in ET appears to promote a PV ph... BeFree 16197451 Detail
0.352 Myeloproliferative disease The classical Philadelphia chromosome-negative myeloproliferative neoplasms cons... BeFree 25259626 Detail
0.352 Myeloproliferative disease SOCS3 transcript levels were highest in patients with polycythemia vera and othe... BeFree 18815196 Detail
0.666 polycythemia vera A somatic mutation (V617F) resulting in enhanced JAK2 kinase activity can be fre... BeFree 20205617 Detail
0.229 myelofibrosis The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and my... BeFree 22364960 Detail
0.462 Thrombocythemia, Essential These data indicate that loss of wild-type clones at the progenitor level is a f... BeFree 20888389 Detail
0.294 Primary myelofibrosis A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 pat... BeFree 15781101 Detail
0.666 polycythemia vera The JAK2 V617F mutation has been implicated in a variety of diseases mainly rela... BeFree 18781401 Detail
0.002 juvenile myelomonocytic leukemia Mutations in TET2, RUNX1 and JAK2(V617F) are involved in myelodysplastic and/or ... BeFree 20955399 Detail
0.462 Thrombocythemia, Essential The JAK2 V617F mutation has been detected in patients with classical myeloprolif... BeFree 23391844 Detail
0.229 myelofibrosis Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time... BeFree 17018857 Detail
0.462 Thrombocythemia, Essential The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in u... BeFree 17317861 Detail
0.364 myelofibrosis Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
0.462 Thrombocythemia, Essential The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... BeFree 16919893 Detail
0.462 Thrombocythemia, Essential Platelet turnover, coagulation factors, and soluble markers of platelet and endo... BeFree 19105233 Detail
0.229 myelofibrosis Using novel mutation-specific PCR which is a highly sensitive PCR-based assay fo... BeFree 18612778 Detail
0.046 Chronic myeloproliferative disorder Clinical significance of V617F mutation of the JAK2 gene in patients with chroni... BeFree 19941738 Detail
<0.001 Thrombocythemia, Essential Fli-1 mRNA expression was significantly higher in Essential thrombocythaemia (ET... BeFree 16930139 Detail
0.002 Primary myelofibrosis After a median follow-up of 41 months (range 3-114 months), three out of the 10 ... BeFree 17059429 Detail
0.666 polycythemia vera In conclusion, constitutive heterozygous expression of JAK2(V617F) in mice is no... BeFree 20472827 Detail
0.125 Thromboembolism Recurrent refractory arterial thromboembolism associated with the Janus kinase 2... BeFree 19174256 Detail
0.002 Secondary polycythemia However, until the recent description of the constitutively activating V617F poi... BeFree 16827884 Detail
0.294 Primary myelofibrosis In order to explore the correlation between these two biological markers and com... BeFree 16197445 Detail
0.352 Myeloproliferative disease The first international meeting on V617F JAK2 mutation and its relevance in Phil... BeFree 16901656 Detail
0.248 Thrombocythemia, Essential Calreticulin mutations (CALR(MUT)) are found in a significant proportion of pati... BeFree 25139350 Detail
0.352 Myeloproliferative disease Heterozygous and homozygous JAK2(V617F) states modeled by induced pluripotent st... BeFree 24066127 Detail
0.294 Primary myelofibrosis The classical Philadelphia chromosome-negative myeloproliferative neoplasms cons... BeFree 25259626 Detail
0.666 polycythemia vera We used the thrombin generation assay to evaluate the hypercoagulable state acco... BeFree 18768782 Detail
<0.001 Glycogen Storage Disease Type VI In a patient with 2 TET2 mutations, the analysis of 5 blood samples at different... BeFree 19564637 Detail
0.462 Thrombocythemia, Essential Proteomic study of the impact of the JAK2-V617F mutation on the phenotype of ess... BeFree 18838204 Detail
0.009 polycythemia vera In the present study, we used mice with a conditional null mutation in the Stat5... BeFree 22234689 Detail
0.127 Primary myelofibrosis The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN... BeFree 25870379 Detail
0.462 Thrombocythemia, Essential Meta-analyses in essential thrombocythemia documented Janus kinase 2 (JAK2) V617... BeFree 19468275 Detail
0.462 Thrombocythemia, Essential Patients with CALR-mutated ET showed a higher platelet count (P = .017) and a lo... BeFree 24553179 Detail
0.001 myelofibrosis Deregulation of apoptosis-related genes is associated with PRV1 overexpression a... BeFree 22300941 Detail
0.002 polycythemia vera This indicates that JAK2 V617-positive ET patients, diagnosed according to the P... BeFree 16810609 Detail
0.352 Myeloproliferative disease The JAK2 V617F mutation has been implicated in a variety of diseases mainly rela... BeFree 19877761 Detail
<0.001 Myeloproliferative disease Critical roles of Myc-ODC axis in the cellular transformation induced by myelopr... BeFree 23300995 Detail
0.002 Neoplasm, Residual In conclusion, allogeneic stem cell transplantation after dose-reduced condition... BeFree 17018857 Detail
0.352 Myeloproliferative disease The JAK2 [V617F] mutation has recently been recognised as critical to the pathog... BeFree 19482442 Detail
0.294 Primary myelofibrosis To evaluate whether risk scores used to classify patients with primary myelofibr... BeFree 23644853 Detail
0.352 Myeloproliferative disease A recent novel mutation in the Janus activated kinase 2 gene involving a gain-of... BeFree 20434300 Detail
0.039 Leukemia, Myelocytic, Acute Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... BeFree 22571758 Detail
0.004 multiple myeloma Presence of JAK2(V617F) in bone marrow might therefore increase the risk of futu... BeFree 18032883 Detail
0.002 myelofibrosis JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a... BeFree 22234689 Detail
0.125 Thromboembolism Furthermore, patients affected by essential thrombocythemia who are carriers of ... BeFree 18600099 Detail
0.462 Thrombocythemia, Essential The detection rate of JAK2 V617F mutants for polycythemia vera, chronic idiopath... BeFree 16741247 Detail
0.046 Chronic myeloproliferative disorder Accordingly, it seems that the investigation for the V617F mutation of the JAK2 ... BeFree 18796251 Detail
0.046 Chronic myeloproliferative disorder Heterozygous and homozygous JAK2(V617F) states modeled by induced pluripotent st... BeFree 24066127 Detail
0.004 Hepatic Vein Thrombosis Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chi... BeFree 16762626 Detail
0.051 Primary myelofibrosis Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have bee... BeFree 21228032 Detail
0.229 myelofibrosis The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasi... BeFree 16225651 Detail
0.666 polycythemia vera The JAK2 V617F tyrosine kinase mutation is present in the great majority of pati... BeFree 17961178 Detail
0.294 Primary myelofibrosis Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
0.462 Thrombocythemia, Essential Evidence of jak2 val617phe positive essential thrombocythemia with splanchnic th... BeFree 18600099 Detail
0.371 Myeloid Leukemia, Chronic the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F... BeFree 17285276 Detail
0.003 Refractory anemias Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
0.002 portal vein thrombosis The JAK2(V617F) tyrosine kinase mutation identifies clinically latent myeloproli... BeFree 19046316 Detail
<0.001 polycythemia vera Genetic or PAD-mediated PP2A reactivation induces Jak2(V617F) inactivation/downr... BeFree 23926298 Detail
0.046 Chronic myeloproliferative disorder Incidence and significance of the JAK2 V617F mutation in patients with chronic m... BeFree 17440677 Detail
0.010 Erythrocytosis Polycythemia vera (PV) is characterized by erythrocytosis associated with the pr... BeFree 19815050 Detail
0.007 chronic lymphocytic leukemia JAK2 V617F positive essential thrombocythemia developing in a patient with CD5⁻ ... BeFree 22884083 Detail
0.462 Thrombocythemia, Essential In this study, we compared the plasma cytokine profiles of polycythemia vera (PV... BeFree 24463275 Detail
0.294 Primary myelofibrosis JAK2(V617F), a mutant of tyrosine kinase JAK2, is found in most patients with po... BeFree 17178722 Detail
0.006 Blast Phase Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor ce... BeFree 16442619 Detail
0.462 Thrombocythemia, Essential All of our PV patients with thrombosis and most of our ET patients with thrombos... BeFree 24811089 Detail
0.014 thrombophilia Influence of the JAK2 V617F mutation and inherited thrombophilia on the thrombot... BeFree 19336736 Detail
0.001 myelofibrosis The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... BeFree 16919893 Detail
0.294 Primary myelofibrosis JAK2 V617F mutations were detected in 6 of the 28 patients with bone marrow fibr... BeFree 24186132 Detail
0.285 Leukemia, Myelocytic, Acute We selected the six patients with myelodysplastic syndromes or AML because they ... BeFree 19474426 Detail
0.462 Thrombocythemia, Essential Molecular profiling must include the analysis of JAK2 (looking for the V617F poi... BeFree 25189723 Detail
0.002 myeloid neoplasm The V617F mutation in the JAK2 non-receptor tyrosine kinase (JAK2V617F) is prese... BeFree 25288776 Detail
0.462 Thrombocythemia, Essential An acquired V617F JAK2 mutation occurs in patients with polycythemia vera (PV) o... BeFree 16772604 Detail
0.352 Myeloproliferative disease In 2005, a point mutation in JAK2 (JAK2-V617F) was identified in a number of neo... BeFree 18245948 Detail
0.001 chronic neutrophilic leukemia Interestingly, one of the patients with SM and the patient with CNL with JAK2 V6... BeFree 15860661 Detail
<0.001 Chronic myeloproliferative disorder In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myelopro... BeFree 25479752 Detail
0.352 Myeloproliferative disease The JAK2(V617F) tyrosine kinase mutation identifies clinically latent myeloproli... BeFree 19046316 Detail
0.352 Myeloproliferative disease Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families ... BeFree 16537803 Detail
0.012 polycythemia vera Clinically suspected PV with low serum erythropoietin and absent JAK2(V617F), to... BeFree 20472853 Detail
0.294 Primary myelofibrosis Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a... BeFree 24986690 Detail
0.666 polycythemia vera We found an association between JAK2 V617F and thrombotic events in patients wit... BeFree 19941738 Detail
0.666 polycythemia vera These findings suggest that, despite the phenotypical difference, the outcome of... BeFree 21224469 Detail
<0.001 polycythemia vera With the use of an in vitro culture system to generate differentiating erythroid... BeFree 16384930 Detail
0.462 Thrombocythemia, Essential The lack of thrombocytosis suggests that additional events may be required for J... BeFree 17183644 Detail
<0.001 Polyendocrinopathies, Autoimmune The aim of this study was to describe the prevalence of main hereditary thrombop... BeFree 22684349 Detail
0.009 polycythemia vera The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in dive... BeFree 19167611 Detail
0.294 Primary myelofibrosis One hundred and forty four patients with a clinical indication of suspected poly... BeFree 16924638 Detail
0.352 Myeloproliferative disease Although the V617F JAK2 mutation has been described by several groups to be asso... BeFree 16330446 Detail
0.352 Myeloproliferative disease Accordingly, it seems that the investigation for the V617F mutation of the JAK2 ... BeFree 18796251 Detail
0.666 polycythemia vera Mice engrafted with 30% of Jak2(V617F) KI bone marrow (BM) cells developed a pol... BeFree 23558526 Detail
0.003 Leukemia, Myelocytic, Acute We hypothesized that the JAK2 V617F mutation might also be present in samples fr... BeFree 16598306 Detail
0.011 Thrombocythemia, Essential We retrospectively analysed laboratory and clinical findings of 106 consecutive ... BeFree 20104275 Detail
0.666 polycythemia vera Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in se... BeFree 23666689 Detail
0.229 myelofibrosis Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) m... BeFree 25912019 Detail
0.352 Myeloproliferative disease These data suggest that erlotinib may be used for treatment of JAK2(V617F)-posit... BeFree 17178722 Detail
0.666 polycythemia vera JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and ... BeFree 19167611 Detail
0.294 Primary myelofibrosis The JAK2 c.1849G&gt;T (p.V617F) mutation leads to constitutive activation of Jan... BeFree 26228487 Detail
0.462 Thrombocythemia, Essential Calreticulin mutations (CALR(MUT)) are found in a significant proportion of pati... BeFree 25139350 Detail
0.294 Primary myelofibrosis Reliable detection of the JAK2 V617F mutation is a major criterion in the diagno... BeFree 20560681 Detail
0.294 Primary myelofibrosis The JAK2 V617F mutational status and its allele burden correlate with the clinic... BeFree 23130336 Detail
0.666 polycythemia vera The JAK2 V617F somatic mutation is found in most PV patients; however, it is not... BeFree 17976518 Detail
0.352 Myeloproliferative disease JAK2 V617F mutation is a molecular marker for myeloproliferative neoplasms (MPNs... BeFree 25015634 Detail
0.462 Thrombocythemia, Essential JAK2(V617F) allele burden discriminates essential thrombocythemia from a subset ... BeFree 19616600 Detail
0.352 Myeloproliferative disease JAK2 V617F gene mutation in the laboratory work-up of myeloproliferative disorde... BeFree 21198321 Detail
0.294 Primary myelofibrosis The JAK2 V617F mutation has been detected in patients with classical myeloprolif... BeFree 23391844 Detail
0.012 polycythemia vera The role of serum erythropoietin level and JAK2 V617F allele burden in the diagn... BeFree 25040297 Detail
0.001 myelofibrosis Respective clustering of unfavorable and favorable cytogenetic clones in myelofi... BeFree 16532437 Detail
0.002 Myeloproliferative disease We conclude that the extent of JAK2(V617F) CD34(+) cell clonal dominance is asso... BeFree 18723264 Detail
<0.001 Supraventricular tachycardia The JAK2 V617F mutation is an independent risk factor for MPN and SVT. BeFree 21497883 Detail
0.281 Mastocytosis, Systemic It is hoped that the same will happen in other MPN with specific genetic alterat... BeFree 19175693 Detail
0.294 Primary myelofibrosis Deregulation of apoptosis-related genes is associated with PRV1 overexpression a... BeFree 22300941 Detail
0.352 Myeloproliferative disease A molecular fingerprint distinguishes JAK2(V617F)-positive MPN patients without ... BeFree 21331593 Detail
0.294 Primary myelofibrosis Frequency and allele burden of CALR mutations in Chinese with essential thromboc... BeFree 25746303 Detail
0.352 Myeloproliferative disease The JAK2 V617F mutation is highly prevalent in patients with myeloproliferative ... BeFree 24963593 Detail
0.294 Primary myelofibrosis The JAK2(V617F) mutation is present in almost all patients with polycythemia ver... BeFree 17145859 Detail
0.352 Myeloproliferative disease JAK2 V617F tyrosine kinase mutation in cell lines derived from myeloproliferativ... BeFree 16408098 Detail
0.666 polycythemia vera The Janus kinase 2 (JAK2) V617F mutation was present in 34 (85.3%) PV, 2 (50%) I... BeFree 17454193 Detail
0.294 Primary myelofibrosis The diagnosis and management of polycythemia vera, essential thrombocythemia, an... BeFree 19521323 Detail
0.294 Primary myelofibrosis However, it is very clear that some patients with classical PV lack the JAK2 V61... BeFree 16210034 Detail
0.294 Primary myelofibrosis Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a... BeFree 17565328 Detail
0.005 polycythemia vera JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation... BeFree 16239216 Detail
0.352 Myeloproliferative disease The nature of the specific oncogenic mutation(s) is currently being unraveled wi... BeFree 16293880 Detail
0.046 Chronic myeloproliferative disorder Currently, the occurrence of the JAK2 V617F mutation is well recognized in chron... BeFree 19595684 Detail
0.229 myelofibrosis The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN... BeFree 25870379 Detail
0.462 Thrombocythemia, Essential The JAK2/V617F mutation has been noted in essential thrombocytemia. BeFree 16670082 Detail
0.002 Thrombocythemia, Essential CD34(+) cell JAK2(V617F) clonal dominance, defined as coherence between the CD34... BeFree 18723264 Detail
0.149 polycythemia These data also support the hypothesis that level of JAK2(V617F) expression infl... BeFree 21242185 Detail
0.666 polycythemia vera The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera ... BeFree 16603627 Detail
0.002 Leukemia, Myelocytic, Acute In a second patient positive for JAK2-V617F at transformation, but with JAK2-V61... BeFree 17363731 Detail
0.002 secondary myelofibrosis In conclusion, constitutive heterozygous expression of JAK2(V617F) in mice is no... BeFree 20472827 Detail
0.004 Acute Erythroblastic Leukemia We hypothesized that the JAK2 V617F mutation might also be present in samples fr... BeFree 16598306 Detail
0.666 polycythemia vera The recently identified JAK2(V617F) mutation is frequently present in the classi... BeFree 18048969 Detail
0.294 Primary myelofibrosis Megakaryocytes are homozygous in the majority of fibrotic CIMF and PV, whereas J... BeFree 17587878 Detail
0.294 Primary myelofibrosis JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV... BeFree 20966521 Detail
0.294 Primary myelofibrosis The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasi... BeFree 16225651 Detail
0.046 Chronic myeloproliferative disorder The incidence of JAK2 V617F mutation in bcr/abl-negative chronic myeloproliferat... BeFree 18720212 Detail
0.046 Chronic myeloproliferative disorder Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better... BeFree 25012914 Detail
0.046 Chronic myeloproliferative disorder A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm pro... BeFree 23558526 Detail
0.122 myelofibrosis The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN... BeFree 25870379 Detail
0.004 Primary myelofibrosis Janus kinase 2 (V617F) mutation status, signal transducer and activator of trans... BeFree 16871275 Detail
0.125 Thromboembolism Association between thromboembolic events and the JAK2 V617F mutation in myelopr... BeFree 24858412 Detail
0.014 Hematologic Neoplasms The gain of function mutation JAK2-V617F is very frequently found in myeloprolif... BeFree 24404189 Detail
0.002 Secondary polycythemia The V617F JAK2 mutation was absent within the patients with secondary erythrocyt... BeFree 19939582 Detail
0.002 Pruritus In AMM, the presence of JAK2(V617F) was associated with an older age at diagnosi... BeFree 16225651 Detail
0.127 Primary myelofibrosis Frequency and allele burden of CALR mutations in Chinese with essential thromboc... BeFree 25746303 Detail
0.294 Primary myelofibrosis JAK2 V617F distribution was PV 40/45 (89%), ET 30/43 (69%), and IMF 7/15 (47%). BeFree 19941738 Detail
0.004 polycythemia vera In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... BeFree 26071474 Detail
0.294 Primary myelofibrosis The JAK2(V617F) mutation is present in the majority of patients with polycythaem... BeFree 19657484 Detail
0.352 Myeloproliferative disease The acquired mutation Val617Phe in the tyrosine kinase JAK2 was recently identif... BeFree 16885051 Detail
0.002 campomelic dysplasia The V617F mutation in the Janus Kinase 2 gene (JAK2(V617F)) was recently shown t... BeFree 17643100 Detail
0.462 Thrombocythemia, Essential We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (... BeFree 25746303 Detail
0.462 Thrombocythemia, Essential The BCR-ABL-negative myeloproliferative neoplasms (MPNs), polycythemia vera (PV)... BeFree 18769448 Detail
0.002 Myeloid Leukemia, Chronic Previous studies have reported FLT3 mutation in as many as 9.2% of myeloprolifer... BeFree 23846442 Detail
0.002 Primary myelofibrosis Bone marrow histopathology in addition to clinical, laboratory, biological, and ... BeFree 16810609 Detail
0.462 Thrombocythemia, Essential The 2005 JAK2 V617F discovery and the 2008 WHO diagnostic guideline for the JAK2... BeFree 25968903 Detail
0.009 Primary myelofibrosis Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT ... BeFree 23445613 Detail
<0.001 Thrombocythemia, Essential Here we show that NF-E2 expression is also increased in patients with essential ... BeFree 20339092 Detail
0.462 Thrombocythemia, Essential To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myel... BeFree 16537803 Detail
0.666 polycythemia vera The JAK2 V617F mutation is present in most patients with polycythemia vera, but ... BeFree 19093167 Detail
<0.001 Chronic myeloproliferative disorder We screened 79 acute myeloid leukemia (AML) cell lines and found five positive f... BeFree 16408098 Detail
0.666 polycythemia vera The activating mutation of JAK2, V617F, has been found as a frequent mutation in... BeFree 22041374 Detail
0.666 polycythemia vera Sixty-eight BCR/ABL-negative MPD patients (46.3%) were found harboring JAK2 V617... BeFree 18464114 Detail
0.352 Myeloproliferative disease An acquired somatic mutation in the JAK2 gene (JAK2-V617F) is present in the maj... BeFree 18160670 Detail
0.462 Thrombocythemia, Essential The gain-of-function JAK2 V617F mutation shifts the phenotype of essential throm... BeFree 17875526 Detail
0.004 Hepatic Vein Thrombosis Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferativ... BeFree 25698270 Detail
0.294 Primary myelofibrosis JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofib... BeFree 20650526 Detail
0.001 Primary myelofibrosis The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... BeFree 16919893 Detail
0.462 Thrombocythemia, Essential Definition of subtypes of essential thrombocythaemia and relation to polycythaem... BeFree 16325696 Detail
<0.001 Neutrophilia (disorder) JAK2 V617F also induced leukocytosis and neutrophilia that was much more promine... BeFree 17183644 Detail
0.462 Thrombocythemia, Essential Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2) V617F mu... BeFree 17389152 Detail
0.294 Primary myelofibrosis JAK2(V617F) and leukemic transformation in myelofibrosis with myeloid metaplasia... BeFree 16563504 Detail
0.294 Primary myelofibrosis Using novel mutation-specific PCR which is a highly sensitive PCR-based assay fo... BeFree 18612778 Detail
0.294 Primary myelofibrosis Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positi... BeFree 25116092 Detail
0.462 Thrombocythemia, Essential A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 p... BeFree 17266061 Detail
0.009 polycythemia vera Reliable detection of the JAK2 V617F mutation is a major criterion in the diagno... BeFree 20560681 Detail
0.016 Myeloid Leukemia, Chronic Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic... BeFree 22847163 Detail
<0.001 Chronic myeloproliferative disorder Critical roles of Myc-ODC axis in the cellular transformation induced by myelopr... BeFree 23300995 Detail
<0.001 Chromosome 5, trisomy 5q JAK2 V617F mutation is associated with 5q- syndrome in Chinese. BeFree 19562618 Detail
0.666 polycythemia vera Both patients with familial PV carrying an exon 12 mutation had an affected sibl... BeFree 17984312 Detail
0.666 polycythemia vera A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 pat... BeFree 15781101 Detail
0.046 Chronic myeloproliferative disorder Limited efficacy of BMS-911543 in a murine model of Janus kinase 2 V617F myelopr... BeFree 25912019 Detail
0.294 Primary myelofibrosis There was a trend toward a more frequent evolution to myelofibrosis when the JAK... BeFree 22818858 Detail
0.149 polycythemia The JAK2 V617F mutation is absent in patients with erythrocytosis due to high ox... BeFree 16987804 Detail
0.146 polycythemia vera JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featur... BeFree 25116092 Detail
0.229 myelofibrosis A somatic activating mutation (V617F) in the JAK2 tyrosine kinase was recently d... BeFree 17183644 Detail
0.294 Primary myelofibrosis Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential t... BeFree 24475114 Detail
0.164 thrombocytosis Further investigations for intracoronary thrombus with no underlying atheroscler... BeFree 22686448 Detail
0.016 Myeloid Leukemia, Chronic Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplas... BeFree 20538800 Detail
0.014 thrombophilia Accordingly, it seems that the investigation for the V617F mutation of the JAK2 ... BeFree 18796251 Detail
0.294 Primary myelofibrosis An activating JAK2 mutation (JAK2 V617F) is present in the chronic myeloprolifer... BeFree 16912229 Detail
0.002 Thrombosis of cerebral veins Furthermore, patients affected by essential thrombocythemia who are carriers of ... BeFree 18600099 Detail
0.046 Chronic myeloproliferative disorder A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported... BeFree 16247455 Detail
0.462 Thrombocythemia, Essential However, it is very clear that some patients with classical PV lack the JAK2 V61... BeFree 16210034 Detail
0.013 Leukemia, Myelomonocytic, Chronic At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-r... BeFree 17050076 Detail
0.016 Myeloid Leukemia, Chronic The present report describes two chronic myelogenous leukemia (CML) patients wit... BeFree 23613267 Detail
0.002 polycythemia vera We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.666 polycythemia vera Since the V617F mutation in JAK2 may not be the initiating event in myeloprofile... BeFree 19497108 Detail
0.046 Chronic myeloproliferative disorder We conclude that JAK2 V617F mutation is uncommon in the 3q21q26 syndrome and tha... BeFree 20153505 Detail
0.666 polycythemia vera HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F de... BeFree 18059484 Detail
0.285 Leukemia, Myelocytic, Acute There was a trend toward a more frequent evolution to myelofibrosis when the JAK... BeFree 22818858 Detail
0.016 Myeloid Leukemia, Chronic LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-reg... BeFree 21950422 Detail
0.046 Chronic myeloproliferative disorder Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative d... BeFree 15920007 Detail
0.001 myelofibrosis MPD-specific markers such as serum EPO, endogenous erythroid colony formation (E... BeFree 16810609 Detail
0.462 Thrombocythemia, Essential JAK2 V617F positive essential thrombocythemia developing in a patient with CD5⁻ ... BeFree 22884083 Detail
0.666 polycythemia vera We report here the first profound and sustained molecular responses with a JAK2 ... BeFree 18481066 Detail
0.666 polycythemia vera The V617F activating mutation of janus kinase 2 (JAK2), a kinase essential for c... BeFree 21042281 Detail
0.229 myelofibrosis It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majori... BeFree 22555824 Detail
<0.001 Myelodysplastic Syndrome with Isolated del(5q) JAK2 V617F mutation is associated with 5q- syndrome in Chinese. BeFree 19562618 Detail
<0.001 Adjustment Disorders In this context, the distinctive role of a positive JAK2(V617F) mutation for the... BeFree 19605821 Detail
0.462 Thrombocythemia, Essential Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in se... BeFree 23666689 Detail
0.294 Primary myelofibrosis The discovery of the activating JAK2 V617F mutation in patients with myelofibros... BeFree 24856675 Detail
0.462 Thrombocythemia, Essential Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-... BeFree 24957246 Detail
0.016 Myeloid Leukemia, Chronic And finally, Will the benefits conferred by current or future JAK2(V617F) inhibi... BeFree 19641523 Detail
0.666 polycythemia vera The acquired somatic Janus kinase 2 (JAK2) V617F mutation is present in the majo... BeFree 19965650 Detail
0.666 polycythemia vera Given that the identical somatic activating mutation in the JAK2 tyrosine kinase... BeFree 19287384 Detail
0.294 Primary myelofibrosis Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progeni... BeFree 16954506 Detail
0.001 Myeloid Metaplasia In the current study, mutation analysis for JAK2(V617F) was performed in periphe... BeFree 16225651 Detail
0.014 Precursor Cell Lymphoblastic Leukemia Lymphoma Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplas... BeFree 20538800 Detail
0.666 polycythemia vera Only tumor necrosis factor-α and platelet derived growth factor-BB were specific... BeFree 24463275 Detail
0.046 Chronic myeloproliferative disorder Correlation of JAK2 V617F mutant allele quantitation with clinical presentation ... BeFree 19880761 Detail
<0.001 Myeloproliferative disease The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors ... BeFree 22579713 Detail
<0.001 thrombocytosis The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count ... BeFree 21350094 Detail
0.046 Chronic myeloproliferative disorder Amplification refractory mutation system, a highly sensitive and simple polymera... BeFree 17384221 Detail
0.164 thrombocytosis Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refr... BeFree 20194893 Detail
0.666 polycythemia vera JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from poly... BeFree 18528646 Detail
0.006 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) These results support a role for platelet turnover, factor V, and aAPCR in the t... BeFree 19105233 Detail
0.666 polycythemia vera Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2) V617F mu... BeFree 17389152 Detail
0.352 Myeloproliferative disease Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of... BeFree 16675710 Detail
0.046 Chronic myeloproliferative disorder Sex differences in the JAK2 V617F allele burden in chronic myeloproliferative di... BeFree 20133898 Detail
0.003 Preleukemia To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis... BeFree 20153505 Detail
0.666 polycythemia vera We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c m... BeFree 17145859 Detail
0.352 Myeloproliferative disease Although the Jak2-V617F mutation has generated strong awareness because of its c... BeFree 19216843 Detail
0.666 polycythemia vera No evidence for JAK2(V617F) mutation in monoclonal B cells in 2 patients with po... BeFree 22890406 Detail
0.051 Leukemia, Myelocytic, Acute Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... BeFree 22571758 Detail
<0.001 Thrombocythemia, Essential Finally, the JAK2-V617F load did not influence serum apolipoprotein A-1 levels i... BeFree 18838204 Detail
0.462 Thrombocythemia, Essential The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and... BeFree 17961178 Detail
0.462 Thrombocythemia, Essential Retrospective data have identified JAK2 V617F as a risk factor for thrombosis in... BeFree 17934351 Detail
0.666 polycythemia vera These data suggest that erlotinib may be used for treatment of JAK2(V617F)-posit... BeFree 17178722 Detail
0.462 Thrombocythemia, Essential Among patients with PV and ET, methylation of the PRV-1 gene is also inversely c... BeFree 17976520 Detail
0.560 Leukemia, Myelocytic, Acute Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... BeFree 22571758 Detail
0.352 Myeloproliferative disease A single mutation 1849G&gt;T in the JAK2 gene (V617F) has recently been describe... BeFree 18528646 Detail
0.229 myelofibrosis Respective clustering of unfavorable and favorable cytogenetic clones in myelofi... BeFree 16532437 Detail
<0.001 thrombocytosis The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count ... BeFree 21350094 Detail
0.229 myelofibrosis In bone marrow reconstitution models based on retroviral transduction, the pheno... BeFree 18769448 Detail
0.294 Primary myelofibrosis A somatic activating mutation (V617F) in the JAK2 tyrosine kinase was recently d... BeFree 17183644 Detail
0.005 Acute lymphocytic leukemia Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplas... BeFree 20538800 Detail
0.002 Thrombocythemia, Essential Bone marrow histopathology in addition to clinical, laboratory, biological, and ... BeFree 16810609 Detail
0.462 Thrombocythemia, Essential We compared the laboratory and clinical findings of 179 patients with essential ... BeFree 17229651 Detail
0.666 polycythemia vera We conclude that the extent of JAK2(V617F) CD34(+) cell clonal dominance is asso... BeFree 18723264 Detail
0.002 secondary acute myeloid leukemia TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (... BeFree 19474426 Detail
0.229 myelofibrosis JAK2 V617F mutations were detected in 6 of the 28 patients with bone marrow fibr... BeFree 24186132 Detail
0.046 Chronic myeloproliferative disorder Bone marrow phospho-STAT5 expression in non-CML chronic myeloproliferative disor... BeFree 17255768 Detail
<0.001 Refractory anemia, without ringed sideroblasts, without excess blasts Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
0.294 Primary myelofibrosis The MPNs include polycythemia vera (PV), essential thrombocythemia (ET), and pri... BeFree 23430670 Detail
0.462 Thrombocythemia, Essential The role of JAK2 V617F mutation, spontaneous erythropoiesis and megakaryocytopoi... BeFree 16810614 Detail
0.046 Chronic myeloproliferative disorder Our results seem to confirm that CLL cases are negative for JAK2(V617F) mutation... BeFree 19816006 Detail
0.352 Myeloproliferative disease In addition, it provides evidence that despite the fact that angiogenesis is gen... BeFree 19466975 Detail
0.352 Myeloproliferative disease However, the recent identification of a V617F mutation in the JH2 domain of the ... BeFree 17251334 Detail
0.462 Thrombocythemia, Essential Megakaryocytic morphology also differed between primary myelofibrosis JAK2 V617F... BeFree 25171702 Detail
0.229 myelofibrosis In conclusion, a simple model which includes: age, JAK2 V617F-status and constit... BeFree 22280409 Detail
0.004 Primary myelofibrosis We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.352 Myeloproliferative disease Finally, we show that IL-27R can functionally replace a homodimeric type I cytok... BeFree 18003935 Detail
0.046 Chronic myeloproliferative disorder JAK2-V617F mutation analysis of granulocytes and platelets from patients with ch... BeFree 17854308 Detail
0.046 Chronic myeloproliferative disorder The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative re... BeFree 17317861 Detail
0.046 Chronic myeloproliferative disorder Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferativ... BeFree 25698270 Detail
0.352 Myeloproliferative disease The V617F activating point mutation in Jak2 is associated with a proportion of m... BeFree 18216297 Detail
<0.001 Homocysteinemia The aim of this study was to describe the prevalence of main hereditary thrombop... BeFree 22684349 Detail
0.051 Primary myelofibrosis Frequency and allele burden of CALR mutations in Chinese with essential thromboc... BeFree 25746303 Detail
0.046 Chronic myeloproliferative disorder Microfluidics-based assays can reduce the assay time and sample/reagent consumpt... BeFree 26235214 Detail
0.666 polycythemia vera The aim of this study was to clarify whether JAK2(V617F) PV with thromboembolism... BeFree 18972067 Detail
0.164 thrombocytosis These data also support the hypothesis that level of JAK2(V617F) expression infl... BeFree 21242185 Detail
<0.001 Acute Erythroblastic Leukemia Specifically, five derivative compounds of G6 having structural similarity to th... BeFree 20667821 Detail
0.013 Leukemia, Myelomonocytic, Chronic Interestingly, one of the patients with SM and the patient with CNL with JAK2 V6... BeFree 15860661 Detail
0.666 polycythemia vera the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F... BeFree 17285276 Detail
0.462 Thrombocythemia, Essential We found an association between JAK2 V617F and thrombotic events in patients wit... BeFree 19941738 Detail
0.016 Myeloid Leukemia, Chronic Previous studies have reported FLT3 mutation in as many as 9.2% of myeloprolifer... BeFree 23846442 Detail
0.352 Myeloproliferative disease Four novel JAK2 mutant alleles have recently been described in patients with V61... BeFree 18055983 Detail
0.352 Myeloproliferative disease The high prevalence of the V617F mutation of Janus kinase 2 and associated mutat... BeFree 18300758 Detail
0.017 Myeloproliferative disease Discovery of a constitutively activating point mutation of the Janus kinase 2 (J... BeFree 17194663 Detail
0.002 polycythemia vera Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic ... BeFree 20013324 Detail
0.352 Myeloproliferative disease In patients with SVT, screening for the JAK2 V617F mutation may be useful in rec... BeFree 17307838 Detail
0.352 Myeloproliferative disease JAK2(V617F), the main mutation involved in MPN, is considered as a risk factor f... BeFree 24951423 Detail
0.352 Myeloproliferative disease Non-reactive platelet counts elevation occurs mainly in myeloproliferative disor... BeFree 23469088 Detail
0.004 Hepatic Vein Thrombosis Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japan... BeFree 19308656 Detail
0.086 Cerebrovascular accident Because 6 out of 2,430 control individuals with no medical history of venous thr... BeFree 20616539 Detail
0.666 polycythemia vera We present here a 56-year-old woman with PV harboring a JAK2(V617F) mutation tha... BeFree 21790864 Detail
0.046 Chronic myeloproliferative disorder The specificity of a JAK2 V617F PCR test for the diagnosis of MPD is high (near ... BeFree 16919893 Detail
0.462 Thrombocythemia, Essential Frequency and clinical features of the JAK2 V617F mutation in pediatric patients... BeFree 18802948 Detail
0.666 polycythemia vera A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (... BeFree 20631743 Detail
0.352 Myeloproliferative disease We report two cases of patient with portal vein thrombosis of unknown origin in ... BeFree 18396750 Detail
0.229 myelofibrosis There was a trend toward a more frequent evolution to myelofibrosis when the JAK... BeFree 22818858 Detail
0.294 Primary myelofibrosis In bone marrow reconstitution models based on retroviral transduction, the pheno... BeFree 18769448 Detail
0.229 myelofibrosis To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myel... BeFree 16537803 Detail
0.462 Thrombocythemia, Essential V617F JAK-2 mutation in patients with essential thrombocythemia: relation to pla... BeFree 17577920 Detail
0.002 Myeloproliferative disease Bone marrow histopathology in addition to clinical, laboratory, biological, and ... BeFree 16810609 Detail
0.352 Myeloproliferative disease However, several unanswered questions regarding the essential role of JAK2(V617F... BeFree 17379069 Detail
0.229 myelofibrosis A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported... BeFree 16247455 Detail
<0.001 Coronary Arteriosclerosis We previously showed that JAK2 V617F is also found in coronary patients, most of... BeFree 25345590 Detail
0.666 polycythemia vera V617F JAK2 mutation is a reliable molecular marker of polycythemia vera (PV), po... BeFree 16709929 Detail
0.229 myelofibrosis Bone marrow histopathology in addition to clinical, laboratory, biological, and ... BeFree 16810609 Detail
0.294 Primary myelofibrosis An acquired JAK2 V617F mutation is found in most patients with polycythemia vera... BeFree 18033315 Detail
0.294 Primary myelofibrosis The discovery of the Janus kinase 2 (JAK2) V617F mutation has improved our under... BeFree 23209034 Detail
0.294 Primary myelofibrosis The JAK2 V617F somatic mutation is present in the majority of patients with myel... BeFree 23116358 Detail
<0.001 Peripheral Arterial Diseases Occurrence of the JAK2 V617F mutation in patients with peripheral arterial disea... BeFree 25345590 Detail
0.149 polycythemia Polycythemia vera (PV) is characterized by erythrocytosis associated with the pr... BeFree 19815050 Detail
0.462 Thrombocythemia, Essential Megakaryocytes are homozygous in the majority of fibrotic CIMF and PV, whereas J... BeFree 17587878 Detail
0.294 Primary myelofibrosis An acquired V617F mutation in JAK2 occurs in most patients with polycythaemia ve... BeFree 16325696 Detail
0.002 Pruritus However, compared with their heterozygote counterparts, JAK2(V617F) homozygote p... BeFree 16369984 Detail
0.352 Myeloproliferative disease The role of screening for the JAK2 V617F mutation in patients presenting with th... BeFree 19004076 Detail
0.004 polycythemia vera In the present study, we used mice with a conditional null mutation in the Stat5... BeFree 22234689 Detail
0.002 portal vein thrombosis In this group, 4 out of 7 of the patients with PVT carried the JAK2 V617F mutati... BeFree 21893442 Detail
0.289 Thrombocythemia, Essential We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (... BeFree 25746303 Detail
0.016 Myeloid Leukemia, Chronic Abnormalities of tyrosine kinase proteins are well recognised in myeloid maligna... BeFree 21722956 Detail
0.666 polycythemia vera The JAK2 V617F mutation per se but not the mutational load in patients with ET i... BeFree 18616871 Detail
0.289 Thrombocythemia, Essential Calreticulin mutations (CALR(MUT)) are found in a significant proportion of pati... BeFree 25139350 Detail
0.294 Primary myelofibrosis In conclusion, a JAK2 (V617F) allele burden &gt;50% represents a risk factor for... BeFree 20631743 Detail
0.229 myelofibrosis In conclusion, a JAK2 (V617F) allele burden &gt;50% represents a risk factor for... BeFree 20631743 Detail
0.002 Neoplasm, Residual The assay characteristics and our initial evaluation indicate this method can be... BeFree 19959796 Detail
0.017 Myeloproliferative disease A JAK2(V617F) mutation is frequently found in several BCR/ABL-negative myeloprol... BeFree 16670266 Detail
0.001 polycythemia vera JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV... BeFree 20966521 Detail
0.666 polycythemia vera This phenotype is quite different from that observed in polycythemia vera (PV) c... BeFree 20663870 Detail
0.462 Thrombocythemia, Essential Two JAK2 V617F positive patients showed baseline platelet counts indicative for ... BeFree 24265174 Detail
0.046 Chronic myeloproliferative disorder To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myel... BeFree 16537803 Detail
0.002 Neoplasm, Residual The combination of ARMS-PCR and capillary electrophoresis enables quantitative a... BeFree 19215672 Detail
0.001 thrombocytosis Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
0.294 Primary myelofibrosis The activating mutation JAK2 V617F plays a central role in the pathogenesis of p... BeFree 20160166 Detail
0.666 polycythemia vera Early screening of suspected PV patients for JAK2(V617F) rapidly identifies near... BeFree 16924638 Detail
0.462 Thrombocythemia, Essential CD34(+) cell JAK2(V617F) clonal dominance, defined as coherence between the CD34... BeFree 18723264 Detail
0.666 polycythemia vera A novel zebrafish jak2a(V581F) model shared features of human JAK2(V617F) polycy... BeFree 19772888 Detail
0.666 polycythemia vera JAK2(V617F) is detected in other myeloproliferative neoplasms, does not appear t... BeFree 19815050 Detail
0.462 Thrombocythemia, Essential Of the 17 individuals with ET, six (35%) had the JAK2 V617F mutation and one (6%... BeFree 19843380 Detail
0.046 Chronic myeloproliferative disorder A point mutation in the Janus tyrosine kinase 2 (JAK2) gene has been described i... BeFree 16572198 Detail
0.462 Thrombocythemia, Essential Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic... BeFree 22847163 Detail
0.352 Myeloproliferative disease The acquired JAK2 V617F mutation is common in patients with myeloproliferative n... BeFree 25345590 Detail
0.004 Malignant neoplasm of prostate Future work should focus on determining the molecular mechanisms other than V617... BeFree 20966544 Detail
0.240 leukemia In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myelopro... BeFree 25479752 Detail
0.149 polycythemia The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in u... BeFree 17317861 Detail
0.285 Leukemia, Myelocytic, Acute JAK2(V617F) was identified in patients previously diagnosed with a myeloprolifer... BeFree 16831057 Detail
0.352 Myeloproliferative disease Critical roles of Myc-ODC axis in the cellular transformation induced by myelopr... BeFree 23300995 Detail
0.002 polycythemia vera Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic ... BeFree 20013324 Detail
0.012 polycythemia vera Half of PVSG/WHO-defined ET patients show low serum erythropoietin levels and ca... BeFree 25116092 Detail
<0.001 disseminated eosinophilic collagen disease Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocyt... BeFree 15860661 Detail
<0.001 Focal glomerulosclerosis A kidney biopsy showed focal segmental glomerulosclerosis (FSGS) with interstiti... BeFree 25366011 Detail
0.666 polycythemia vera Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melti... BeFree 22642932 Detail
0.666 polycythemia vera The V617F mutation in the JAK2 gene on chromosome 9p24.1 was identified recently... BeFree 17213018 Detail
0.149 polycythemia Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogeni... BeFree 25825724 Detail
0.352 Myeloproliferative disease The diagnosis of a myeloproliferative disease could be corroborated by demonstra... BeFree 18188594 Detail
0.352 Myeloproliferative disease The V617F JAK2 mutation and the myeloproliferative disorders. BeFree 16285006 Detail
0.001 Mesenteric Venous Thrombosis A recent novel mutation in the Janus activated kinase 2 gene involving a gain-of... BeFree 20434300 Detail
0.352 Myeloproliferative disease JAK2-V617F mutation in Moroccan patients with myeloproliferative disorders: cont... BeFree 19939582 Detail
0.013 Leukemia, Myelomonocytic, Chronic TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (... BeFree 19474426 Detail
0.462 Thrombocythemia, Essential In conclusion, constitutive heterozygous expression of JAK2(V617F) in mice is no... BeFree 20472827 Detail
0.145 leukemia Continued research into how miRNAs impact JAK2(V617F) clonal expansion, differen... BeFree 23432162 Detail
0.009 Primary myelofibrosis CD34(+) cell JAK2(V617F) clonal dominance, defined as coherence between the CD34... BeFree 18723264 Detail
0.229 myelofibrosis The nature of the specific oncogenic mutation(s) is currently being unraveled wi... BeFree 16293880 Detail
0.001 chronic neutrophilic leukemia Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase muta... BeFree 16330446 Detail
0.002 Primary myelofibrosis Using novel mutation-specific PCR which is a highly sensitive PCR-based assay fo... BeFree 18612778 Detail
0.229 myelofibrosis JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a... BeFree 22234689 Detail
0.003 Deep Vein Thrombosis The presence of JAK2(V617F) mutation should be considered per se a prothrombotic... BeFree 19478480 Detail
0.352 Myeloproliferative disease DNA from 161 samples was isolated from peripheral blood granulocytes and formali... BeFree 16627272 Detail
0.004 Primary myelofibrosis Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable ... BeFree 19616600 Detail
0.294 Primary myelofibrosis These changes and the resultant clinical research are discussed in this article ... BeFree 22463737 Detail
<0.001 Hyperplasia erythroid Clinically suspected PV with low serum erythropoietin and absent JAK2(V617F), to... BeFree 20472853 Detail
0.229 myelofibrosis Novel treatment strategies are under investigation, including targeted inhibitio... BeFree 20425385 Detail
0.294 Primary myelofibrosis In polycythemia vera, JAK2 (V617F) was detected in 23 of 25 subjects at diagnosi... BeFree 16373657 Detail
0.666 polycythemia vera JAK2 V617F positivity in patients with ET was associated with a clear increase i... BeFree 18632151 Detail
0.294 Primary myelofibrosis A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 p... BeFree 17266061 Detail
0.046 Chronic myeloproliferative disorder Prevalence of JAK2 V617F mutation in Indian patients with chronic myeloprolifera... BeFree 20966521 Detail
0.229 myelofibrosis Megakaryocytes are homozygous in the majority of fibrotic CIMF and PV, whereas J... BeFree 17587878 Detail
0.016 Myeloid Leukemia, Chronic JAK2 V617F mutation was found to be positive in 100% of polycythemia vera cases,... BeFree 21198321 Detail
0.229 myelofibrosis A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 p... BeFree 17266061 Detail
0.462 Thrombocythemia, Essential This study is the largest hitherto carried out in this setting and shows that th... BeFree 19965680 Detail
0.229 myelofibrosis Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linke... BeFree 18786436 Detail
0.007 Myeloid Leukemia, Chronic In the present study, we used mice with a conditional null mutation in the Stat5... BeFree 22234689 Detail
0.046 Chronic myeloproliferative disorder Molecular genetic assays for the detection of the JAK2 V617F (c.1849G&gt;T) and ... BeFree 23057517 Detail
0.666 polycythemia vera The JAK2-V617F mutation is frequently present at diagnosis in patients with esse... BeFree 16728702 Detail
0.396 Myeloid Leukemia, Chronic Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic... BeFree 22847163 Detail
0.666 polycythemia vera Development and inter-laboratory validation of unlabeled probe melting curve ana... BeFree 22028900 Detail
0.666 polycythemia vera Open-label study of oral CEP-701 (lestaurtinib) in patients with polycythaemia v... BeFree 24903629 Detail
0.294 Primary myelofibrosis the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F... BeFree 17285276 Detail
0.149 polycythemia Peripheral blood mutation screening for JAK2 V617F can be incorporated into the ... BeFree 22313642 Detail
0.149 polycythemia The results of the current clinical study support previous laboratory observatio... BeFree 16369984 Detail
0.010 Erythrocytosis Four novel JAK2 mutant alleles have recently been described in patients with V61... BeFree 18055983 Detail
0.352 Myeloproliferative disease Questions remain regarding the exact contribution of JAK2(V617F) in other myelop... BeFree 16670266 Detail
0.229 myelofibrosis Deregulation of apoptosis-related genes is associated with PRV1 overexpression a... BeFree 22300941 Detail
0.352 Myeloproliferative disease A general theme is that JAK2 V617F is variably associated with thrombosis and, m... BeFree 17934351 Detail
0.666 polycythemia vera These data suggest that the JAK2(V617F) mutation plays an important role in the ... BeFree 17379069 Detail
0.666 polycythemia vera Although JAK2(V617F) transcript levels did not decrease upon exposure to dasatin... BeFree 18717827 Detail
0.010 Primary myelofibrosis Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the p... BeFree 16990584 Detail
0.294 Primary myelofibrosis The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in u... BeFree 17317861 Detail
0.666 polycythemia vera Recently, the JAK2(V617F) mutation was found in patients with myeloproliferative... BeFree 16946305 Detail
<0.001 retinal vein occlusion Conventional diagnostic criteria for myeloproliferative disorders and the JAK2 V... BeFree 18054634 Detail
0.001 chronic neutrophilic leukemia Early relapse of JAK2 V617F-positive chronic neutrophilic leukemia with central ... BeFree 17109389 Detail
0.149 polycythemia Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
0.248 Thrombocythemia, Essential Molecular profiling must include the analysis of JAK2 (looking for the V617F poi... BeFree 25189723 Detail
0.001 Myeloproliferative disease In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... BeFree 26071474 Detail
0.666 polycythemia vera In conclusion, JAK2(V617F) is a myeloid lineage-specific event, its incidence in... BeFree 16225651 Detail
0.002 Thrombosis of cerebral veins Patients with cerebral venous thrombosis can carry the JAK2 V617F mutation, irre... BeFree 22469236 Detail
0.666 polycythemia vera Reliable detection of the JAK2 V617F mutation is a major criterion in the diagno... BeFree 20560681 Detail
0.294 Primary myelofibrosis JAK2 V617F mutation frequency in our PMF patients was greater than in previous r... BeFree 24811089 Detail
0.462 Thrombocythemia, Essential 88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PM... BeFree 22304488 Detail
0.046 Chronic myeloproliferative disorder However, it is very clear that some patients with classical PV lack the JAK2 V61... BeFree 16210034 Detail
0.294 Primary myelofibrosis To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myel... BeFree 16537803 Detail
0.666 polycythemia vera The 2005 JAK2 V617F discovery and the 2008 WHO diagnostic guideline for the JAK2... BeFree 25968903 Detail
0.122 Leukemia, Myelocytic, Acute Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3... BeFree 24404189 Detail
0.005 polycythemia vera HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F de... BeFree 18059484 Detail
0.004 acute leukemia The transformation of MPNs into acute leukemia is by itself a very rare phenomen... BeFree 21421540 Detail
0.285 Leukemia, Myelocytic, Acute Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... BeFree 22571758 Detail
0.294 Primary myelofibrosis JAK2 V617F mutational status predicts progression to large splenomegaly and leuk... BeFree 17712047 Detail
0.462 Thrombocythemia, Essential JAK2 V617F mutation in essential thrombocythemia: correlation with clinical char... BeFree 19235016 Detail
0.462 Thrombocythemia, Essential Absence of the V617F JAK2 mutation in the lymphoid compartment in a patient with... BeFree 19816006 Detail
0.294 Primary myelofibrosis Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated... BeFree 20528738 Detail
0.666 polycythemia vera The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% ... BeFree 22333011 Detail
0.352 Myeloproliferative disease The V617F activating point mutation in Jak2 has recently been associated with my... BeFree 16632470 Detail
0.002 portal vein thrombosis JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocy... BeFree 17687555 Detail
0.666 polycythemia vera Treatment with atiprimod, a potent JAK2 inhibitor, caused marked growth inhibiti... BeFree 21512135 Detail
0.046 Chronic myeloproliferative disorder We report two cases of patient with portal vein thrombosis of unknown origin in ... BeFree 18396750 Detail
0.666 polycythemia vera The somatic activating janus kinase 2 mutation (JAK2)(V617F) is detectable in mo... BeFree 18482053 Detail
0.002 Primary myelofibrosis In order to explore the correlation between these two biological markers and com... BeFree 16197445 Detail
0.149 polycythemia These data suggest that erythrocytosis and granulocytosis in JAK2(V617F) mice ar... BeFree 17145859 Detail
0.462 Thrombocythemia, Essential Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic man... BeFree 25116182 Detail
0.121 Precursor Cell Lymphoblastic Leukemia Lymphoma Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplas... BeFree 20538800 Detail
0.352 Myeloproliferative disease Multiple iPS cell lines were also generated from peripheral blood CD34(+) cells ... BeFree 19797525 Detail
0.352 Myeloproliferative disease Molecular genetic assays for the detection of the JAK2 V617F (c.1849G&gt;T) and ... BeFree 23057517 Detail
0.666 polycythemia vera These data indicate that loss of wild-type clones at the progenitor level is a f... BeFree 20888389 Detail
0.294 Primary myelofibrosis Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linke... BeFree 18786436 Detail
0.127 Primary myelofibrosis The recent discovery of mutations within the CALR gene in up to 80% of JAK2 V617... BeFree 25259626 Detail
0.229 myelofibrosis The gain-of-function JAK2 V617F mutation shifts the phenotype of essential throm... BeFree 17875526 Detail
0.666 polycythemia vera The JAK2 V617F mutation has been detected in patients with classical myeloprolif... BeFree 23391844 Detail
0.462 Thrombocythemia, Essential In essential thrombocythemia, 154 (53%) Janus kinase 2 V617F, 96 (33%) calreticu... BeFree 24895336 Detail
0.055 Myeloid Leukemia, Chronic Abnormalities of tyrosine kinase proteins are well recognised in myeloid maligna... BeFree 21722956 Detail
0.352 Myeloproliferative disease The JAK2 V617F mutation has been implicated in a variety of diseases mainly rela... BeFree 18781401 Detail
0.046 Chronic myeloproliferative disorder Recently, the JAK2 V617F mutation has been reported in high proportions of chron... BeFree 16321863 Detail
0.002 myelofibrosis Bone marrow histopathology in addition to clinical, laboratory, biological, and ... BeFree 16810609 Detail
0.164 thrombocytosis Higher levels of JAK2-V617F in mouse bone marrow by retroviral transduction caus... BeFree 18160670 Detail
<0.001 polycythemia vera JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leu... BeFree 22411871 Detail
0.145 leukemia JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia... BeFree 19691103 Detail
0.666 polycythemia vera Different involvement of the megakaryocytic lineage by the JAK2 V617F mutation i... BeFree 17262192 Detail
0.294 Primary myelofibrosis The screening for JAK2 V617F mutation in patients with polycythemia vera, essent... BeFree 19500139 Detail
<0.001 polycythemia vera LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-reg... BeFree 21950422 Detail
0.666 polycythemia vera The JAK2 V617F mutation in children with PV was significantly less frequent than... BeFree 17369568 Detail
0.164 thrombocytosis Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F... BeFree 24399021 Detail
0.046 Chronic myeloproliferative disorder Although thrombocytosis was only intermittent, analysis of the Janus kinase 2 (J... BeFree 19174256 Detail
0.002 Myeloproliferative disease BMS-911543 is a JAK2-selective inhibitor that induces apoptosis in JAK2-dependen... BeFree 25912019 Detail
0.462 Thrombocythemia, Essential High prevalence of arterial thrombosis in JAK2 mutated essential thrombocythaemi... BeFree 18616871 Detail
0.046 Chronic myeloproliferative disorder Mesenteric venous thrombosis secondary to an unsuspected JAK2 V617F-positive mye... BeFree 19693645 Detail
0.294 Primary myelofibrosis The V617F mutation of JAK2 is the key molecular event in 90% of polycythaemia ve... BeFree 18575049 Detail
<0.001 Adjustment Disorders In this context, the distinctive role of a positive JAK2(V617F) mutation for the... BeFree 19605821 Detail
0.352 Myeloproliferative disease A sensitive assay for the JAK2 V617F mutation has the potential to diagnose atyp... BeFree 18328792 Detail
0.016 Myeloid Leukemia, Chronic the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F... BeFree 17285276 Detail
0.005 Chronic myeloproliferative disorder Bone marrow phospho-STAT5 expression in non-CML chronic myeloproliferative disor... BeFree 17255768 Detail
0.046 Chronic myeloproliferative disorder Increased PRV-1 mRNA expression and the presence of Jak2(V617F) mutation in peri... BeFree 17852451 Detail
0.352 Myeloproliferative disease The discovery of JAK2 V617F mutation has shed light on understanding of the mole... BeFree 19016916 Detail
0.002 Hematological Disease JAK2(V617F) mutation was significantly more common in MPD patients (76%) than in... BeFree 22696908 Detail
0.294 Primary myelofibrosis Disease burden at the progenitor level is a feature of primary myelofibrosis: a ... BeFree 20888389 Detail
<0.001 Granulocytic Sarcoma This report describes the first case of myeloid sarcoma with JAK2 V617F mutation... BeFree 22041374 Detail
0.001 Primary myelofibrosis MPD-specific markers such as serum EPO, endogenous erythroid colony formation (E... BeFree 16810609 Detail
0.294 Primary myelofibrosis These standards were used in two JAK2 p.V617F assays, which were used to support... BeFree 23537216 Detail
0.352 Myeloproliferative disease Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders ... BeFree 17363731 Detail
0.013 Leukemia, Myelomonocytic, Chronic JAK2 V617F mutation was detected after transformation to CMML in 1 of them; in t... BeFree 21658659 Detail
0.666 polycythemia vera It is hoped that the same will happen in other MPN with specific genetic alterat... BeFree 19175693 Detail
0.462 Thrombocythemia, Essential An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia a... BeFree 16885051 Detail
0.005 Thrombocythemia, Essential Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic... BeFree 22847163 Detail
0.352 Myeloproliferative disease Janus kinase 2 (JAK2) V617F mutation testing has revolutionized the classificati... BeFree 21933004 Detail
0.046 Chronic myeloproliferative disorder The JAK2 V617F mutational status and allele burden may be related with the risk ... BeFree 25559461 Detail
0.004 Primary myelofibrosis Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the p... BeFree 16990584 Detail
0.002 portal vein thrombosis The search of the V617F mutation of the Janus Kinase 2 gene has to be performed ... BeFree 18396750 Detail
0.352 Myeloproliferative disease We conclude that JAK2 V617F mutation is uncommon in the 3q21q26 syndrome and tha... BeFree 20153505 Detail
0.352 Myeloproliferative disease Limited efficacy of BMS-911543 in a murine model of Janus kinase 2 V617F myelopr... BeFree 25912019 Detail
0.149 polycythemia This work demonstrates that JAK2(V617F) is sufficient for polycythemia and fibro... BeFree 16670266 Detail
0.352 Myeloproliferative disease TET2 defects were present in hematopoietic stem cells and preceded the JAK2 V617... BeFree 19474426 Detail
0.352 Myeloproliferative disease Our results seem to confirm that CLL cases are negative for JAK2(V617F) mutation... BeFree 19816006 Detail
0.010 Erythrocytosis Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogeni... BeFree 25825724 Detail
<0.001 polycythemia Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
0.149 polycythemia JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from poly... BeFree 18528646 Detail
<0.001 Hyperplasia erythroid Clinically suspected PV with low serum erythropoietin and absent JAK2(V617F), to... BeFree 20472853 Detail
<0.001 Vascular Hemostatic Disorders JAK2(V617F), the main mutation involved in MPN, is considered as a risk factor f... BeFree 24951423 Detail
0.462 Thrombocythemia, Essential Most patients with polycythemia vera and half with idiopathic myelofibrosis and ... BeFree 16293597 Detail
0.666 polycythemia vera The molecular response rate was 38% in ET and 54% in PV, being complete (undetec... BeFree 19826111 Detail
0.046 Chronic myeloproliferative disorder In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myelopro... BeFree 25479752 Detail
0.001 Acute lymphocytic leukemia Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplas... BeFree 20538800 Detail
0.666 polycythemia vera We showed that in vitro the concomitant presence of JAK2(V617F) and TET2 mutatio... BeFree 21273266 Detail
0.001 Myeloid Leukemia, Chronic Previous studies have reported FLT3 mutation in as many as 9.2% of myeloprolifer... BeFree 23846442 Detail
<0.001 Chronic myeloproliferative disorder The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors ... BeFree 22579713 Detail
0.666 polycythemia vera The MPNs include polycythemia vera (PV), essential thrombocythemia (ET), and pri... BeFree 23430670 Detail
0.008 Primary myelofibrosis We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.352 Myeloproliferative disease We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (... BeFree 25746303 Detail
0.002 portal vein thrombosis The JAK2 V617F point mutation was found in 3 patients with extrahepatic portal v... BeFree 18328792 Detail
<0.001 Thrombocythemia, Essential We report two cases of ET with Jak 2 V617F in Zap-70+ CLL. BeFree 18849073 Detail
0.010 Erythrocytosis JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from poly... BeFree 18528646 Detail
0.002 Carcinogenesis The V617F mutation in the JAK2 non-receptor tyrosine kinase (JAK2V617F) is prese... BeFree 25288776 Detail
0.666 polycythemia vera Although the JAK2(V617F) mutation plays an important role in the biologic origin... BeFree 16757685 Detail
0.046 Chronic myeloproliferative disorder However, until the recent description of the constitutively activating V617F poi... BeFree 16827884 Detail
0.666 polycythemia vera Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential t... BeFree 24475114 Detail
0.003 Thrombocythemia, Essential We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
<0.001 Hematologic Neoplasms The discovery of the highly prevalent activating JAK (Janus kinase) 2 V617F muta... BeFree 23863177 Detail
0.285 Leukemia, Myelocytic, Acute In a second patient positive for JAK2-V617F at transformation, but with JAK2-V61... BeFree 17363731 Detail
0.002 prostate carcinoma Activating mutation (V617F) in the tyrosine kinase JAK2 is absent in locally-con... BeFree 20966544 Detail
0.462 Thrombocythemia, Essential We used the thrombin generation assay to evaluate the hypercoagulable state acco... BeFree 18768782 Detail
0.666 polycythemia vera Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic... BeFree 22847163 Detail
0.666 polycythemia vera The most consistent relationship was that between PV and the JAK2 V617F mutation... BeFree 19843380 Detail
0.352 Myeloproliferative disease All idiopathic IAVT patients must be screened for JAK2(V617F) mutation to detect... BeFree 22696908 Detail
0.666 polycythemia vera Strikingly, the JAK2(V617F) mutation is found in nearly all patients suffering f... BeFree 20587663 Detail
0.013 Leukemia, Myelomonocytic, Chronic The results indicate that JAK2(V617F) mutation is associated with clinical and m... BeFree 19734476 Detail
0.352 Myeloproliferative disease Mesenteric venous thrombosis secondary to an unsuspected JAK2 V617F-positive mye... BeFree 19693645 Detail
0.462 Thrombocythemia, Essential The JAK2(V617F) mutant allele burden contributes to determining the clinical phe... BeFree 18166784 Detail
0.046 Chronic myeloproliferative disorder Frequent detection of the JAK2 V617F mutation in bone marrow core biopsy specime... BeFree 16949922 Detail
<0.001 Female Pseudohermaphroditism Thus, JAK2 V617F mutant must be able to interact via its intact FERM-SH2 domains... BeFree 16904848 Detail
0.294 Primary myelofibrosis However, JAK2 inhibitors have limited ability to reduce JAK2 V617F allele burden... BeFree 23313046 Detail
0.352 Myeloproliferative disease The JAK2 V617F mutation is associated with platelet activation, as measured by e... BeFree 17596137 Detail
0.003 Malignant neoplasm of prostate Future work should focus on determining the molecular mechanisms other than V617... BeFree 20966544 Detail
0.462 Thrombocythemia, Essential Megakaryopoiesis and platelet function in polycythemia vera and essential thromb... BeFree 18612778 Detail
0.666 polycythemia vera We also verified the effect of the same drugs in colony assays of freshly isolat... BeFree 23111067 Detail
0.666 polycythemia vera JAK2 V617F was found in 38 (64%) of ET cases, 7 (39%) of CIMF cases, and 9 (100%... BeFree 17875526 Detail
0.007 chronic lymphocytic leukemia In 4 previously reported patients with JAK2(V617F)-positive Ph(-) MPN and B-CLL ... BeFree 22890406 Detail
0.120 Myocardial Ischemia JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P... BeFree 23116358 Detail
0.462 Thrombocythemia, Essential A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 pat... BeFree 15781101 Detail
0.285 Leukemia, Myelocytic, Acute A JAK2 V617F mutation was identified in one patient who had acute myeloid leukem... BeFree 20153505 Detail
0.046 Chronic myeloproliferative disorder In addition, it provides evidence that despite the fact that angiogenesis is gen... BeFree 19466975 Detail
0.462 Thrombocythemia, Essential The JAK2-V617F mutation significantly correlated with higher leukocyte count and... BeFree 23213945 Detail
0.666 polycythemia vera 88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PM... BeFree 22304488 Detail
0.294 Primary myelofibrosis The JAK2-V617F mutation was observed in three lineages of granulocytes, platelet... BeFree 22041356 Detail
<0.001 neurofibromatosis 1 JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I. BeFree 18623221 Detail
0.040 Leukemia, Myelocytic, Acute Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... BeFree 22571758 Detail
0.352 Myeloproliferative disease An acquired mutation in Janus kinase 2 (JAK2), V617F, has recently been identifi... BeFree 17384221 Detail
0.352 Myeloproliferative disease We aimed to determine the relative sensitivity of four separate molecular assays... BeFree 16916724 Detail
0.352 Myeloproliferative disease JAK2 V617F-positive latent essential thrombocythemia and splanchnic vein thrombo... BeFree 19478480 Detail
0.666 polycythemia vera As expected, WP1066 inhibited the proliferation of peripheral blood hematopoieti... BeFree 18245540 Detail
0.001 Acute lymphocytic leukemia Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplas... BeFree 20538800 Detail
0.046 Chronic myeloproliferative disorder These findings suggest that MPL mutation screening should be performed before JA... BeFree 21326037 Detail
0.229 myelofibrosis The discovery of the activating JAK2 V617F mutation in patients with myelofibros... BeFree 24856675 Detail
0.666 polycythemia vera JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation... BeFree 16239216 Detail
0.462 Thrombocythemia, Essential Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linke... BeFree 18786436 Detail
0.462 Thrombocythemia, Essential Dysregulated signaling is a hallmark of chronic myeloproliferative neoplasms (MP... BeFree 21082983 Detail
0.462 Thrombocythemia, Essential Modulation of JAK2 V617F allele burden dynamics by hydroxycarbamide in polycytha... BeFree 21219298 Detail
<0.001 thrombocytosis The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count ... BeFree 21350094 Detail
0.666 polycythemia vera Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic ... BeFree 20013324 Detail
0.002 Constitutional Symptom In conclusion, a simple model which includes: age, JAK2 V617F-status and constit... BeFree 22280409 Detail
0.003 Thrombocythemia, Essential Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-... BeFree 24957246 Detail
0.014 thrombophilia We used the thrombin generation assay to evaluate the hypercoagulable state acco... BeFree 18768782 Detail
0.001 Myeloid Metaplasia The present data suggests the JAK2 V617F allele burden as a key determinant of t... BeFree 17961178 Detail
0.011 Thrombocythemia, Essential In order to explore the correlation between these two biological markers and com... BeFree 16197445 Detail
0.462 Thrombocythemia, Essential Is JAK2 V617F mutation more than a diagnostic index? A meta-analysis of clinical... BeFree 18632151 Detail
<0.001 subacute bacterial endocarditis Recently several different JAK2 exon12 mutations have been identified in V617F n... BeFree 19735488 Detail
0.001 Arterial thrombosis Since the description of the JAK2-V617F mutation and its finding in patients wit... BeFree 21118380 Detail
0.462 Thrombocythemia, Essential Although it is in vogue to consider essential thrombocythemia as more than one d... BeFree 16456375 Detail
0.002 myelofibrosis JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a... BeFree 22234689 Detail
0.666 polycythemia vera Treating low-risk essential thrombocythemia and polycythemia vera patients prese... BeFree 19468275 Detail
0.352 Myeloproliferative disease Quantitative determination of JAK2 V617F by TaqMan: An absolute measure of avera... BeFree 17384217 Detail
0.462 Thrombocythemia, Essential JAK2 V617F-positive essential thrombocythemia in a patient with Klinefelter synd... BeFree 20362232 Detail
0.164 thrombocytosis His postoperative management included the examination of his peripheral blood as... BeFree 18534315 Detail
0.666 polycythemia vera Long term treatment with IFN2b is able to induce 'minimal residual disease' with... BeFree 19941739 Detail
0.046 Chronic myeloproliferative disorder The prevalence of overt MPN and that of JAK2 V617F were lower in Korean patients... BeFree 21435189 Detail
0.145 leukemia Among the patients with myelofibrosis, those with ASXL1 lesions were not disting... BeFree 21712540 Detail
0.666 polycythemia vera Discordant distribution of the JAK2 (V617F) mutation was observed in siblings wi... BeFree 16998940 Detail
0.046 Chronic myeloproliferative disorder A study of JAK2 (V617F) gene mutation in patients with chronic myeloproliferativ... BeFree 22555824 Detail
0.020 myelodysplastic syndrome To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis... BeFree 20153505 Detail
0.462 Thrombocythemia, Essential The production of JAK2 wild-type platelets is not downregulated in patients with... BeFree 19222478 Detail
0.020 myelodysplastic syndrome We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abn... BeFree 18030353 Detail
0.002 Neoplasm, Residual Establishing optimal quantitative-polymerase chain reaction assays for routine d... BeFree 23860450 Detail
0.666 polycythemia vera Interestingly, a significant correlation between MYC and hTERT expression could ... BeFree 18084761 Detail
0.666 polycythemia vera The JAK2 V617F mutation can be found in patients with polycythemia vera, essenti... BeFree 18815196 Detail
<0.001 Chronic myeloproliferative disorder In an MPD with t(9;12)(q13 approximately q21;q22) and JAK2 V617F mutation, array... BeFree 17574970 Detail
0.164 thrombocytosis Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
0.294 Primary myelofibrosis JAK2 germline genetic variation affects disease susceptibility in primary myelof... BeFree 19847199 Detail
0.294 Primary myelofibrosis Different numbers of cell lineages harboring the JAK2-V617F mutation were found,... BeFree 22006129 Detail
0.008 Chronic myeloproliferative disorder Molecular genetic assays for the detection of the JAK2 V617F (c.1849G&gt;T) and ... BeFree 23057517 Detail
<0.001 Idiopathic hypereosinophilic syndrome Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocyt... BeFree 15860661 Detail
0.666 polycythemia vera Definition of subtypes of essential thrombocythaemia and relation to polycythaem... BeFree 16325696 Detail
0.011 Refractory anemias Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refr... BeFree 20194893 Detail
<0.001 polycythemia vera As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive p... BeFree 18616871 Detail
0.666 polycythemia vera Overall, the incidence of the JAK2 V617F mutation was 87% in PV, 67% in ET, and ... BeFree 16949922 Detail
0.666 polycythemia vera A somatic point mutation (V617F) in the JAK2 tyrosine kinase was found in a majo... BeFree 20197548 Detail
<0.001 polycythemia vera Since the V617F mutation in JAK2 may not be the initiating event in myeloprofile... BeFree 19497108 Detail
0.285 Leukemia, Myelocytic, Acute In the test of blind screening of 223 samples (111 Ph- MPNs, 60 Ph+ chronic myel... BeFree 21786333 Detail
0.462 Thrombocythemia, Essential When present in a heterozygous state the JAK2-V617F mutation preferentially stim... BeFree 20008195 Detail
0.352 Myeloproliferative disease The discovery of the Janus kinase 2 Val617Phe mutation has brought new insights ... BeFree 18600099 Detail
0.666 polycythemia vera Polycythemia vera is a clonal hematopoietic stem cell disorder in which the JAK2... BeFree 18508790 Detail
0.462 Thrombocythemia, Essential Tyk2 mutation homologous to V617F Jak2 is not found in essential thrombocythaemi... BeFree 17011030 Detail
0.666 polycythemia vera We conclude that in vivo expression of JAK2 V617F results in ET-, PMF- and PV-li... BeFree 18033315 Detail
0.666 polycythemia vera The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to t... BeFree 22262773 Detail
0.046 Chronic myeloproliferative disorder The current findings indicated that the JAK2 (V617F) mutation represents an acqu... BeFree 16998940 Detail
0.666 polycythemia vera This indicates that JAK2 V617-positive ET patients, diagnosed according to the P... BeFree 16810609 Detail
0.462 Thrombocythemia, Essential The JAK2-V617F mutation is frequently present at diagnosis in patients with esse... BeFree 16728702 Detail
0.352 Myeloproliferative disease The discovery that many patients with polycythemia vera, essential thrombocythem... BeFree 19521323 Detail
0.294 Primary myelofibrosis A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported... BeFree 16247455 Detail
0.001 Supraventricular tachycardia Present findings suggest that, in patients presenting with SVT, the JAK2 V617F m... BeFree 21497883 Detail
<0.001 Female Pseudohermaphroditism A new potential oncogenic mutation in the FERM domain of JAK2 in BCR/ABL1-negati... BeFree 20417861 Detail
0.666 polycythemia vera A refined diagnostic algorithm for polycythemia vera that incorporates mutation ... BeFree 20425336 Detail
0.666 polycythemia vera Relationship between clotting activity and phosphatidylserine expression on eryt... BeFree 21539404 Detail
0.352 Myeloproliferative disease The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in bot... BeFree 15860661 Detail
0.352 Myeloproliferative disease Determination of the JAK2 V617F mutation may contribute to the search for geneti... BeFree 17059429 Detail
0.256 Budd-Chiari syndrome Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japan... BeFree 19308656 Detail
0.002 polycythemia vera After a median follow-up of 41 months (range 3-114 months), three out of the 10 ... BeFree 17059429 Detail
0.003 Deep Vein Thrombosis Individuals harboring JAK2 V617F mutation, regardless of MPN type, were at highe... BeFree 25559461 Detail
0.014 Hematologic Neoplasms The Janus Kinase 2 (JAK2) V617F mutation in hematological malignancies in México... BeFree 17408106 Detail
0.294 Primary myelofibrosis JAK2(WT) progenitors were present in ET and PV when the CD34(+) JAK2(V617F) alle... BeFree 18723264 Detail
0.046 Chronic myeloproliferative disorder The recently identified JAK2(V617F) mutation is frequently present in the classi... BeFree 18048969 Detail
0.666 polycythemia vera Modulation of JAK2 V617F allele burden dynamics by hydroxycarbamide in polycytha... BeFree 21219298 Detail
0.144 Blast Phase Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor ce... BeFree 16442619 Detail
0.046 Chronic myeloproliferative disorder Polycythemia vera (PV) is a chronic myeloproliferative neoplasm associated with ... BeFree 25278584 Detail
0.462 Thrombocythemia, Essential Different numbers of cell lineages harboring the JAK2-V617F mutation were found,... BeFree 22006129 Detail
0.006 polycythemia vera A JAK2 (V617F) gene dosage effect on both CD34(+) cell counts and granulocyte ac... BeFree 16373657 Detail
0.046 Chronic myeloproliferative disorder The aim of the present study was to assess the dynamics of the JAK2 V617F allele... BeFree 19154659 Detail
0.001 Chronic myeloproliferative disorder In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... BeFree 26071474 Detail
0.666 polycythemia vera The JAK2 V617F mutation is responsible for the constitutive activation of the er... BeFree 21953826 Detail
0.666 polycythemia vera The role of serum erythropoietin level and JAK2 V617F allele burden in the diagn... BeFree 25040297 Detail
0.229 myelofibrosis Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT ... BeFree 23445613 Detail
0.002 myelofibrosis In this context, the distinctive role of a positive JAK2(V617F) mutation for the... BeFree 19605821 Detail
0.666 polycythemia vera Eleven JAK2(V617F) mutated patients developed 13 deep splanchnic thromboses in P... BeFree 22818858 Detail
0.002 secondary myelofibrosis Third, the slowly progressive myeloid (granulocytic) metaplasia in bone marrow a... BeFree 16810614 Detail
<0.001 Chronic myeloproliferative disorder STAT5 activation is critical for the transformation mediated by myeloproliferati... BeFree 20028972 Detail
0.294 Primary myelofibrosis A somatic point mutation (V617F) in the JAK2 tyrosine kinase was found in a majo... BeFree 20197548 Detail
0.294 Primary myelofibrosis Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT ... BeFree 23445613 Detail
0.229 myelofibrosis PMF with different stages of myelofibrosis all yielded similar JAK2(V617F) allel... BeFree 19616600 Detail
0.004 Mastocytosis, Systemic Interestingly, one of the patients with SM and the patient with CNL with JAK2 V6... BeFree 15860661 Detail
0.666 polycythemia vera The classical Philadelphia chromosome-negative myeloproliferative neoplasms cons... BeFree 25259626 Detail
0.666 polycythemia vera Our understanding of the genetic basis of myeloproliferative neoplasms began in ... BeFree 24786775 Detail
0.352 Myeloproliferative disease Such HLA-G5-mediated inhibition constitutes a new parameter to be considered in ... BeFree 18059484 Detail
0.462 Thrombocythemia, Essential He was diagnosed with essential thrombocythemia after he tested positive for the... BeFree 20434300 Detail
<0.001 Myeloid Leukemia, Chronic Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplas... BeFree 20538800 Detail
0.002 polycythemia vera In the present study, we used mice with a conditional null mutation in the Stat5... BeFree 22234689 Detail
<0.001 hypereosinophilic syndrome Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocyt... BeFree 15860661 Detail
0.004 Acute Erythroblastic Leukemia Similar inhibitory effects were found with the JAK2(V617F)-positive human erythr... BeFree 17178722 Detail
0.352 Myeloproliferative disease Analysis of JAK2(V617F) mutation in Chinese patients with myeloproliferative dis... BeFree 17266061 Detail
<0.001 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) These results support a role for platelet turnover, factor V, and aAPCR in the t... BeFree 19105233 Detail
0.003 Lymphoproliferative Disorders Absence of the V617F JAK2 mutation in the lymphoid compartment in a patient with... BeFree 19816006 Detail
<0.001 Peripheral Vascular Diseases Occurrence of the JAK2 V617F mutation in patients with peripheral arterial disea... BeFree 25345590 Detail
0.001 Arterial thrombosis High prevalence of arterial thrombosis in JAK2 mutated essential thrombocythaemi... BeFree 18616871 Detail
0.046 Chronic myeloproliferative disorder Identification of the JAK2 V617F mutation in chronic myeloproliferative disorder... BeFree 16627272 Detail
0.462 Thrombocythemia, Essential The frequency of JAK2 V617F mutation is about 90% in patients with PV, 50-60% in... BeFree 19167611 Detail
0.462 Thrombocythemia, Essential We investigated the activity of ITF2357, a novel histone deacetylase inhibitor (... BeFree 18079739 Detail
0.462 Thrombocythemia, Essential The JAK2 c.1849G&gt;T (p.V617F) mutation leads to constitutive activation of Jan... BeFree 26228487 Detail
<0.001 5q-syndrome JAK2 V617F mutation is associated with 5q- syndrome in Chinese. BeFree 19562618 Detail
<0.001 Myeloproliferative disease Finally, we show that IL-27R can functionally replace a homodimeric type I cytok... BeFree 18003935 Detail
0.352 Myeloproliferative disease Because of the clinical importance of this mutation in diagnosing myeloprolifera... BeFree 18294066 Detail
<0.001 polycythemia vera We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.666 polycythemia vera The screening for JAK2 V617F mutation in patients with polycythemia vera, essent... BeFree 19500139 Detail
0.229 myelofibrosis The JAK2 V617F mutational status and its allele burden correlate with the clinic... BeFree 23130336 Detail
0.294 Primary myelofibrosis A somatic mutation (V617F) resulting in enhanced JAK2 kinase activity can be fre... BeFree 20205617 Detail
0.046 Chronic myeloproliferative disorder The JAK2 V617F mutation involves B- and T-lymphocyte lineages in a subgroup of p... BeFree 17313377 Detail
0.046 Chronic myeloproliferative disorder We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (... BeFree 25746303 Detail
0.352 Myeloproliferative disease The identification of Jak2(V617F) mutations in more than 90% of patients with po... BeFree 23588264 Detail
0.462 Thrombocythemia, Essential Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated... BeFree 20528738 Detail
0.294 Primary myelofibrosis We report here that JAK2(V617F)-associated disease is strongly associated with a... BeFree 19287382 Detail
0.462 Thrombocythemia, Essential Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential th... BeFree 22722988 Detail
0.061 Leukemia, Myelocytic, Acute Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... BeFree 22571758 Detail
0.294 Primary myelofibrosis There was a trend towards an association between SOCS3 methylation and lower SOC... BeFree 18815196 Detail
0.352 Myeloproliferative disease Laboratory testing for the presence of the V617F mutation in JAK2 has taken on g... BeFree 21118387 Detail
0.666 polycythemia vera JAK2 V617F mutation was found to be positive in 100% of polycythemia vera cases,... BeFree 21198321 Detail
0.294 Primary myelofibrosis Somatic mutations were detected in 33 of 221 patients (15%) with JAK2 (V617F)-ne... BeFree 21228032 Detail
<0.001 hyperhomocysteinemia The aim of this study was to describe the prevalence of main hereditary thrombop... BeFree 22684349 Detail
0.005 Acute Erythroblastic Leukemia We hypothesized that the JAK2 V617F mutation might also be present in samples fr... BeFree 16598306 Detail
0.666 polycythemia vera The V617F JAK2 mutation incidence in polycythemia vera, essential thrombocythemi... BeFree 19939582 Detail
0.462 Thrombocythemia, Essential Increased risk of recurrent thrombosis in patients with essential thrombocythemi... BeFree 19582452 Detail
0.002 campomelic dysplasia The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in dive... BeFree 19167611 Detail
0.352 Myeloproliferative disease The data suggest that the JAK2(V617F) mutation is apparently much more common th... BeFree 16946305 Detail
0.462 Thrombocythemia, Essential JAK2 V617F was detected in 31 of 51 patients (60.8%) with essential thrombocythe... BeFree 24858412 Detail
0.002 Myeloid Leukemia, Chronic Previous studies have reported FLT3 mutation in as many as 9.2% of myeloprolifer... BeFree 23846442 Detail
0.002 portal vein thrombosis Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferativ... BeFree 25698270 Detail
0.462 Thrombocythemia, Essential Impact of JAK2(V617F) mutation status on treatment response to anagrelide in ess... BeFree 26028965 Detail
0.462 Thrombocythemia, Essential Two CML patients who subsequently developed features of essential thrombocythemi... BeFree 23613267 Detail
0.666 polycythemia vera These results show the presence in PV erythroblasts of proliferative and antiapo... BeFree 16384930 Detail
0.462 Thrombocythemia, Essential The prevalence of homozygous JAK2-V617F mutation in RARS-T suggests that this en... BeFree 18166783 Detail
<0.001 Acute Erythroblastic Leukemia Specifically, five derivative compounds of G6 having structural similarity to th... BeFree 20667821 Detail
0.352 Myeloproliferative disease Recent information regarding disease pathogenesis, including a contribution to t... BeFree 16675707 Detail
0.462 Thrombocythemia, Essential JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featur... BeFree 25116092 Detail
0.011 Thrombocythemia, Essential The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... BeFree 16919893 Detail
0.051 Primary myelofibrosis Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positi... BeFree 25116092 Detail
0.666 polycythemia vera Risk of thrombosis in patients with essential thrombocythemia and polycythemia v... BeFree 17229651 Detail
0.462 Thrombocythemia, Essential the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F... BeFree 17285276 Detail
0.462 Thrombocythemia, Essential We conclude that in vivo expression of JAK2 V617F results in ET-, PMF- and PV-li... BeFree 18033315 Detail
0.001 anemia In patients with CMD, the multivariate generalized linear regression model showe... BeFree 18028479 Detail
0.012 polycythemia vera Our studies correlating the frequency of JAK2(V617F) mutant allele and clonality... BeFree 17198871 Detail
0.666 polycythemia vera Approximately 96% of patients with polycythemia vera (PV) harbors the V617F muta... BeFree 21646683 Detail
0.294 Primary myelofibrosis The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and my... BeFree 22364960 Detail
0.046 Chronic myeloproliferative disorder Critical roles of Myc-ODC axis in the cellular transformation induced by myelopr... BeFree 23300995 Detail
0.001 Mediastinal (Thymic) Large B-Cell Lymphoma No evidence for the JAK2 (V617F) or JAK2 exon 12 mutations in primary mediastina... BeFree 19704259 Detail
0.462 Thrombocythemia, Essential The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF). BeFree 17255768 Detail
0.666 polycythemia vera JAK2 V617F was detected in 140 samples (66 PV, 45 ET and 29 PMF). BeFree 25023898 Detail
0.352 Myeloproliferative disease More recently, we demonstrated that constitutive phosphorylation of Lu/BCAM is a... BeFree 18948049 Detail
0.462 Thrombocythemia, Essential In order to explore the correlation between these two biological markers and com... BeFree 16197445 Detail
0.396 Myeloid Leukemia, Chronic The recently described JAK2 V617F mutation, present in a substantial proportion ... BeFree 17255768 Detail
<0.001 Myeloproliferative disease In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... BeFree 26071474 Detail
0.229 myelofibrosis We investigated this question using conditional JAK2(V617F) knock-in mice with c... BeFree 24951423 Detail
0.294 Primary myelofibrosis The positive rate of JAK2 V617F in polycythaemia vera (PV), essential thrombocyt... BeFree 20331763 Detail
<0.001 thrombocytosis Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
0.352 Myeloproliferative disease A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm pro... BeFree 23558526 Detail
<0.001 Chronic myeloproliferative disorder Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better... BeFree 25012914 Detail
0.666 polycythemia vera Therefore, by necessity, any discussion of PV must take into consideration these... BeFree 16210034 Detail
0.294 Primary myelofibrosis The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN... BeFree 25870379 Detail
0.352 Myeloproliferative disease Because of the clinical importance of this mutation (JAK2 V617F) in diagnosing m... BeFree 17006961 Detail
<0.001 Constitutional Symptom In conclusion, a simple model which includes: age, JAK2 V617F-status and constit... BeFree 22280409 Detail
0.462 Thrombocythemia, Essential The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and my... BeFree 22364960 Detail
0.001 Myeloid Metaplasia Depending on the biological background of individual patients, heterozygous and ... BeFree 16810614 Detail
0.666 polycythemia vera Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progeni... BeFree 16954506 Detail
0.004 Leukemia, Myelocytic, Acute Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... BeFree 22571758 Detail
0.009 polycythemia vera Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregn... BeFree 20499211 Detail
0.462 Thrombocythemia, Essential The positive rate of JAK2 V617F in polycythaemia vera (PV), essential thrombocyt... BeFree 20331763 Detail
0.003 Myeloproliferative disease The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors ... BeFree 22579713 Detail
0.666 polycythemia vera JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV... BeFree 20966521 Detail
0.462 Thrombocythemia, Essential The activating mutation of JAK2, V617F, has been found as a frequent mutation in... BeFree 22041374 Detail
0.666 polycythemia vera Finally, the JAK2-V617F load did not influence serum apolipoprotein A-1 levels i... BeFree 18838204 Detail
0.002 portal vein thrombosis The aim of this study was to describe the prevalence of main hereditary thrombop... BeFree 22684349 Detail
<0.001 Thrombocythemia, Essential The modulation of JAK2 V617F allele burden dynamics was prospectively analysed i... BeFree 21219298 Detail
0.294 Primary myelofibrosis This study is the largest hitherto carried out in this setting and shows that th... BeFree 19965680 Detail
0.016 Myeloid Leukemia, Chronic However it is not so easy, because iPSCs from hematological malignancies have be... BeFree 23807288 Detail
0.462 Thrombocythemia, Essential A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine a... BeFree 16210033 Detail
0.002 Thrombosis of cerebral veins Incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral ... BeFree 17263783 Detail
0.017 Myeloproliferative disease Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative ... BeFree 19466975 Detail
0.004 acute leukemia JAK2 V617F mutation was detected after transformation to CMML in 1 of them; in t... BeFree 21658659 Detail
0.008 Chronic myeloproliferative disorder These findings suggest that MPL mutation screening should be performed before JA... BeFree 21326037 Detail
0.666 polycythemia vera Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregn... BeFree 20499211 Detail
0.046 Chronic myeloproliferative disorder We report a case of a 62-year-old black man with progressive abdominal swelling ... BeFree 25834519 Detail
0.010 Erythrocytosis The results of the current clinical study support previous laboratory observatio... BeFree 16369984 Detail
<0.001 Chronic myeloproliferative disorder Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better... BeFree 25012914 Detail
0.462 Thrombocythemia, Essential Fli-1 mRNA expression was significantly higher in Essential thrombocythaemia (ET... BeFree 16930139 Detail
0.666 polycythemia vera Recently, a unique and clonal mutation in the JAK homology 2 (JH2) domain of JAK... BeFree 16210035 Detail
0.462 Thrombocythemia, Essential To perform a multivariate analysis by Cox proportional hazard model of the impac... BeFree 20670476 Detail
0.666 polycythemia vera These preliminary observations indicate that the Jak2(V617F) mutation in particu... BeFree 17852451 Detail
0.666 polycythemia vera The JAK2 V617F mutation has been implicated in a variety of diseases mainly rela... BeFree 19877761 Detail
<0.001 myelofibrosis Janus kinase 2 (V617F) mutation status, signal transducer and activator of trans... BeFree 16871275 Detail
0.462 Thrombocythemia, Essential Recently, it has become clear that patients meeting WHO criteria for RARS-T have... BeFree 19120370 Detail
0.666 polycythemia vera JAK2 V617F mutation testing in polycythemia vera: use and impact in an academic ... BeFree 18854675 Detail
0.352 Myeloproliferative disease We conclude that the extent of JAK2(V617F) CD34(+) cell clonal dominance is asso... BeFree 18723264 Detail
0.003 Refractory anemia, without ringed sideroblasts, without excess blasts Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
0.352 Myeloproliferative disease These results establish a role for JunB in normal erythropoiesis and indicate th... BeFree 18843287 Detail
0.229 myelofibrosis JAK2(V617F) and leukemic transformation in myelofibrosis with myeloid metaplasia... BeFree 16563504 Detail
0.164 thrombocytosis In light of the findings from previous reports, screening for the JAK2-V617F mut... BeFree 23613267 Detail
0.046 Chronic myeloproliferative disorder Thus, targeting the pathway mediated by JAK and its downstream substrate, signal... BeFree 25538080 Detail
<0.001 Tumor Progression A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm pro... BeFree 23558526 Detail
0.666 polycythemia vera Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3... BeFree 24404189 Detail
0.294 Primary myelofibrosis This study revealed that CALR mutant essential thrombocythemia is associated wit... BeFree 25934766 Detail
0.352 Myeloproliferative disease In addition, Bcr/Abl-negative classic myeloproliferative disorders are character... BeFree 16781478 Detail
0.352 Myeloproliferative disease We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c m... BeFree 17145859 Detail
0.666 polycythemia vera Lastly, JAK2 V617F mutant allele burden was found much higher in polycythemia ve... BeFree 23469088 Detail
0.285 Leukemia, Myelocytic, Acute JAK2 V617F is a rare finding in de novo acute myeloid leukemia, but STAT3 activa... BeFree 16598306 Detail
<0.001 Thrombocythemia, Essential The prevalence of homozygous JAK2-V617F mutation in RARS-T suggests that this en... BeFree 18166783 Detail
0.002 Primary myelofibrosis JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a... BeFree 22234689 Detail
0.666 polycythemia vera Recently, it has been shown that an activating mutation of JAK2 (V617F) was at t... BeFree 16684963 Detail
0.004 Acute Erythroblastic Leukemia Specifically, five derivative compounds of G6 having structural similarity to th... BeFree 20667821 Detail
0.285 Leukemia, Myelocytic, Acute Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3... BeFree 24404189 Detail
0.037 Myeloproliferative disease We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (... BeFree 25746303 Detail
0.294 Primary myelofibrosis After a median follow-up of 41 months (range 3-114 months), three out of the 10 ... BeFree 17059429 Detail
0.462 Thrombocythemia, Essential Association of V617F Jak2 mutation with the risk of thrombosis among patients wi... BeFree 19299003 Detail
0.560 Leukemia, Myelocytic, Acute JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leu... BeFree 22411871 Detail
0.462 Thrombocythemia, Essential Approximately half of the patients with ET harbor a gain-of-function mutation in... BeFree 24609764 Detail
<0.001 Deep Vein Thrombosis Individuals harboring JAK2 V617F mutation, regardless of MPN type, were at highe... BeFree 25559461 Detail
0.294 Primary myelofibrosis The nature of the specific oncogenic mutation(s) is currently being unraveled wi... BeFree 16293880 Detail
<0.001 Craniometaphyseal dysplasia, autosomal dominant The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK... BeFree 18484677 Detail
<0.001 polycythemia vera HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F de... BeFree 18059484 Detail
0.352 Myeloproliferative disease In this retrospective cohort study, patients with cerebral venous thrombosis wer... BeFree 22469236 Detail
0.666 polycythemia vera Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated... BeFree 20528738 Detail
<0.001 Craniometaphyseal dysplasia, autosomal dominant To determine the prevalence of JAK2 V617F mutation and its clinical correlation ... BeFree 19941738 Detail
0.666 polycythemia vera Our results indicate that primary myelofibrosis JAK2 V617F and polycythemia vera... BeFree 25171702 Detail
0.006 Primary myelofibrosis the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F... BeFree 17285276 Detail
0.285 Leukemia, Myelocytic, Acute We screened 79 acute myeloid leukemia (AML) cell lines and found five positive f... BeFree 16408098 Detail
0.004 Primary myelofibrosis Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential t... BeFree 24475114 Detail
0.229 myelofibrosis The JAK2 c.1849G&gt;T (p.V617F) mutation leads to constitutive activation of Jan... BeFree 26228487 Detail
<0.001 Neutrophilia (disorder) Induction of the JAK2-V617F transgene with the interferon-inducible MxCre result... BeFree 18160670 Detail
0.462 Thrombocythemia, Essential Long-term serial analysis of X-chromosome inactivation patterns and JAK2 V617F m... BeFree 17023581 Detail
0.001 Chronic myeloproliferative disorder BMS-911543 is a JAK2-selective inhibitor that induces apoptosis in JAK2-dependen... BeFree 25912019 Detail
0.002 Refractory anemias Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
0.294 Primary myelofibrosis The frequency of JAK2 V617F mutation is about 90% in patients with PV, 50-60% in... BeFree 19167611 Detail
0.666 polycythemia vera Only the ZNF577 gene showed a differential methylation profile between PV JAK2 V... BeFree 21821860 Detail
0.666 polycythemia vera More recently, we demonstrated that constitutive phosphorylation of Lu/BCAM is a... BeFree 18948049 Detail
0.666 polycythemia vera The JAK2 c.1849G&gt;T (p.V617F) mutation leads to constitutive activation of Jan... BeFree 26228487 Detail
0.666 polycythemia vera JAK2 V617F mutation frequencies in our PV and ET patients were similar to those ... BeFree 24811089 Detail
<0.001 Chronic myeloproliferative disorder The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors ... BeFree 22579713 Detail
0.002 Refractory anemia with ringed sideroblasts Refractory anemia with ringed sideroblasts and marked thrombocytosis (RARS-T) wa... BeFree 18166783 Detail
0.462 Thrombocythemia, Essential The JAK2(V617F) mutation was detected in 18 patients with ET and 38 patients wit... BeFree 19826111 Detail
0.006 Leukemia, Myelomonocytic, Chronic At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-r... BeFree 17050076 Detail
0.294 Primary myelofibrosis JAK2 V617F was detected in 31 of 51 patients (60.8%) with essential thrombocythe... BeFree 24858412 Detail
0.462 Thrombocythemia, Essential Eleven JAK2(V617F) mutated patients developed 13 deep splanchnic thromboses in P... BeFree 22818858 Detail
0.008 lymphoma It is hoped that the same will happen in other MPN with specific genetic alterat... BeFree 19175693 Detail
0.352 Myeloproliferative disease MPD-specific markers such as serum EPO, endogenous erythroid colony formation (E... BeFree 16810609 Detail
0.002 campomelic dysplasia JAK2 V617F is a very reliable and noninvasive molecular marker for CMPD and shou... BeFree 17133457 Detail
0.046 Chronic myeloproliferative disorder We studied the sensitivity and reproducibility of LightScanner™ platform in the ... BeFree 20728437 Detail
<0.001 hypereosinophilic syndrome The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or ... BeFree 18024388 Detail
0.008 Chronic myeloproliferative disorder We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (... BeFree 25746303 Detail
<0.001 Primary myelofibrosis In conclusion, a simple model which includes: age, JAK2 V617F-status and constit... BeFree 22280409 Detail
0.002 Myeloid Leukemia, Chronic Previous studies have reported FLT3 mutation in as many as 9.2% of myeloprolifer... BeFree 23846442 Detail
0.046 Chronic myeloproliferative disorder The JAK2(V617F) mutation does not elucidate the phenotypic variability observed ... BeFree 19564637 Detail
0.003 Preleukemia We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abn... BeFree 18030353 Detail
<0.001 subacute bacterial endocarditis Sequence analysis was subsequently performed in the IE patient showing aberrant ... BeFree 18528646 Detail
0.294 Primary myelofibrosis Bone marrow histopathology in addition to clinical, laboratory, biological, and ... BeFree 16810609 Detail
0.666 polycythemia vera We investigated the activity of ITF2357, a novel histone deacetylase inhibitor (... BeFree 18079739 Detail
0.666 polycythemia vera A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 p... BeFree 17266061 Detail
0.462 Thrombocythemia, Essential Together, these results support the concept that activating Stat1 in the presenc... BeFree 24820309 Detail
0.666 polycythemia vera The discovery of the Janus kinase 2 (JAK2) V617F mutation has improved our under... BeFree 23209034 Detail
0.002 Neoplasm, Residual Long term treatment with IFN2b is able to induce 'minimal residual disease' with... BeFree 19941739 Detail
0.352 Myeloproliferative disease Relation between JAK2 (V617F) mutation status, granulocyte activation, and const... BeFree 16373657 Detail
0.666 polycythemia vera The role of JAK2 V617F mutation, spontaneous erythropoiesis and megakaryocytopoi... BeFree 16810614 Detail
0.033 Blast Phase Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor ce... BeFree 16442619 Detail
0.294 Primary myelofibrosis It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majori... BeFree 22555824 Detail
0.146 polycythemia vera We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.008 Myeloid Leukemia, Chronic Previous studies have reported FLT3 mutation in as many as 9.2% of myeloprolifer... BeFree 23846442 Detail
0.046 Chronic myeloproliferative disorder JAK2 V617F mutation status of 232 patients diagnosed with chronic myeloprolifera... BeFree 24811089 Detail
0.002 Myeloproliferative disease We studied the relationship between granulocyte JAK2 (V617F) mutation status, ci... BeFree 16373657 Detail
0.017 Myeloproliferative disease Because JAK2 V617F is specific for myeloid neoplasms, and because it can be dete... BeFree 18575049 Detail
0.018 myeloid leukemia GVS inhibited colony formation and proliferation and induced apoptosis at doses ... BeFree 22579713 Detail
0.352 Myeloproliferative disease The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative re... BeFree 17317861 Detail
0.666 polycythemia vera We analyzed Dkk3 serum levels with ELISA in patients with newly diagnosed and un... BeFree 24309205 Detail
0.352 Myeloproliferative disease Since variability in the JAK2(V617F) allele burden is partly responsible for the... BeFree 20133898 Detail
<0.001 secondary acute myeloid leukemia We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abn... BeFree 18030353 Detail
0.005 polycythemia vera The JAK2 V617F mutation is responsible for the constitutive activation of the er... BeFree 21953826 Detail
<0.001 Granulocytic Sarcoma In addition, homozygous JAK2 V617F mutation was detected from the myeloid sarcom... BeFree 24118374 Detail
0.294 Primary myelofibrosis The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and... BeFree 17961178 Detail
0.352 Myeloproliferative disease The main conclusion is that JAK2 V617F is a 100% specific clue to a new distinct... BeFree 16810614 Detail
0.046 Chronic myeloproliferative disorder Transcription factor Fli-1 expression by bone marrow cells in chronic myeloproli... BeFree 16930139 Detail
0.015 polycythemia vera However, compared with the PRV-1 assay, mutation screening for JAK2(V617F) displ... BeFree 16197445 Detail
0.294 Primary myelofibrosis Strikingly, the JAK2(V617F) mutation is found in nearly all patients suffering f... BeFree 20587663 Detail
<0.001 Blood Coagulation Disorders Thus, mice developing PV secondary to constitutive JAK2(V617F) expression exhibi... BeFree 24951423 Detail
0.666 polycythemia vera The high prevalence of the V617F mutation of Janus kinase 2 and associated mutat... BeFree 18300758 Detail
0.164 thrombocytosis The observed biological difference in circulating granulocyte involvement by the... BeFree 16916724 Detail
0.294 Primary myelofibrosis JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (3... BeFree 19277418 Detail
0.666 polycythemia vera The lack of thrombocytosis suggests that additional events may be required for J... BeFree 17183644 Detail
0.462 Thrombocythemia, Essential Deregulation of apoptosis-related genes is associated with PRV1 overexpression a... BeFree 22300941 Detail
0.229 myelofibrosis These standards were used in two JAK2 p.V617F assays, which were used to support... BeFree 23537216 Detail
0.046 Chronic myeloproliferative disorder The JAK2 46/1 haplotype has recently been described as a major contributing fact... BeFree 23420150 Detail
0.294 Primary myelofibrosis The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF). BeFree 17255768 Detail
<0.001 Myeloid Leukemia, Chronic Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplas... BeFree 20538800 Detail
0.046 Chronic myeloproliferative disorder The identification of Jak2(V617F) mutations in more than 90% of patients with po... BeFree 23588264 Detail
0.046 Chronic myeloproliferative disorder The V617F mutation in the JAK2 non-receptor tyrosine kinase (JAK2V617F) is prese... BeFree 25288776 Detail
0.294 Primary myelofibrosis AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia... BeFree 20339092 Detail
0.002 Myeloproliferative disease Multiple iPS cell lines were also generated from peripheral blood CD34(+) cells ... BeFree 19797525 Detail
0.666 polycythemia vera Removing sex as a potential confounder, we identified an accurate molecular meth... BeFree 25162887 Detail
0.046 Chronic myeloproliferative disorder While the clinical phenotype of JAK2 exon 12 lesions in the MPD was predominantl... BeFree 17920755 Detail
0.229 myelofibrosis These data indicate that loss of wild-type clones at the progenitor level is a f... BeFree 20888389 Detail
0.256 Budd-Chiari syndrome Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chi... BeFree 16762626 Detail
0.666 polycythemia vera Catastrophic intra-abdominal thrombosis can result from a variety of prothrombot... BeFree 17439832 Detail
0.666 polycythemia vera Molecular profiling must include the analysis of JAK2 (looking for the V617F poi... BeFree 25189723 Detail
0.352 Myeloproliferative disease A new MALDI-TOF-based assay for monitoring JAK2 V617F mutation level in patients... BeFree 17698191 Detail
0.294 Primary myelofibrosis A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine a... BeFree 16210033 Detail
<0.001 thrombocytosis The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count ... BeFree 21350094 Detail
0.666 polycythemia vera The JAK2 V617F mutation, present in the majority of polycythemia vera (PV) patie... BeFree 18843287 Detail
0.666 polycythemia vera The JAK2-V617F mutation was observed in three lineages of granulocytes, platelet... BeFree 22041356 Detail
0.294 Primary myelofibrosis The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% ... BeFree 22333011 Detail
0.010 Erythrocytosis The JAK2 V617F mutation is absent in patients with erythrocytosis due to high ox... BeFree 16987804 Detail
0.128 polycythemia vera We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.229 myelofibrosis Clearance of the Janus kinase 2 (JAK2) V617F mutation after allogeneic stem cell... BeFree 17133423 Detail
0.011 Refractory anemias Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
0.285 Leukemia, Myelocytic, Acute This report describes the first case of myeloid sarcoma with JAK2 V617F mutation... BeFree 22041374 Detail
0.666 polycythemia vera Different numbers of cell lineages harboring the JAK2-V617F mutation were found,... BeFree 22006129 Detail
0.352 Myeloproliferative disease The JAK2 46/1 haplotype has recently been described as a major contributing fact... BeFree 23420150 Detail
0.352 Myeloproliferative disease In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myelopro... BeFree 25479752 Detail
0.462 Thrombocythemia, Essential The JAK2(V617F) mutation is present in the majority of patients with polycythemi... BeFree 22065597 Detail
0.002 thrombocytosis Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses... BeFree 17285276 Detail
0.002 campomelic dysplasia The JAK2 V617F mutation was detected in 86 per cent of patients with CMPD disord... BeFree 20966521 Detail
0.149 polycythemia The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to t... BeFree 22262773 Detail
0.666 polycythemia vera In addition, a patient with polycythemia vera diagnosed as being JAK2 V617F-nega... BeFree 26235214 Detail
0.002 Malignant neoplasm of stomach The development of gastric cancer in a patient with polycythemia Vera, 3P deleti... BeFree 20306156 Detail
0.666 polycythemia vera We studied the lineage distribution of JAK2 mutations in peripheral blood of 8 p... BeFree 18195094 Detail
0.666 polycythemia vera An activating JAK2 mutation (JAK2 V617F) is present in the chronic myeloprolifer... BeFree 16912229 Detail
0.352 Myeloproliferative disease STAT5 activation is critical for the transformation mediated by myeloproliferati... BeFree 20028972 Detail
0.003 Lymphoproliferative Disorders The JAK2(V617F) mutation, which has been found in patients with myeloproliferati... BeFree 18032883 Detail
0.462 Thrombocythemia, Essential JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mo... BeFree 20489053 Detail
0.352 Myeloproliferative disease Discovery of a constitutively activating point mutation of the Janus kinase 2 (J... BeFree 17194663 Detail
0.294 Primary myelofibrosis We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.011 Thrombocythemia, Essential Deregulation of apoptosis-related genes is associated with PRV1 overexpression a... BeFree 22300941 Detail
0.462 Thrombocythemia, Essential Further investigations for intracoronary thrombus with no underlying atheroscler... BeFree 22686448 Detail
0.004 polycythemia vera The evolving evidence that JAK2 V617F is not specific for polycythemia vera path... BeFree 16781479 Detail
0.462 Thrombocythemia, Essential In contrast, 68% of essential thrombocythemia (ET) patients have the JAK2-V617F ... BeFree 22041356 Detail
0.462 Thrombocythemia, Essential In essential thrombocythemia (ET), the JAK2-V617F mutation is usually restricted... BeFree 19541820 Detail
0.008 Activated Protein C Resistance These results support a role for platelet turnover, factor V, and aAPCR in the t... BeFree 19105233 Detail
0.010 Erythrocytosis The objective of the present study was to evaluate the diagnostic accuracy of se... BeFree 25040297 Detail
<0.001 Thrombocythemia, Essential Tyk2 mutation homologous to V617F Jak2 is not found in essential thrombocythaemi... BeFree 17011030 Detail
0.012 polycythemia vera Therefore, a contemporary approach to the diagnosis of polycythemia vera starts ... BeFree 20425336 Detail
0.352 Myeloproliferative disease A clear link appears to exist between leukocytosis, JAK2(V617F), and the hemosta... BeFree 19176988 Detail
<0.001 polycythemia vera As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive p... BeFree 18616871 Detail
0.004 Leukemia, Myelocytic, Acute PVTL-1 cells may provide a valuable model system to elucidate the molecular mech... BeFree 24404189 Detail
0.046 Chronic myeloproliferative disorder JAK2(V617F), the main mutation involved in MPN, is considered as a risk factor f... BeFree 24951423 Detail
<0.001 Erythrocytosis Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogeni... BeFree 25825724 Detail
0.666 polycythemia vera We conclude that a burden of JAK2(V617F) allele greater than 75% at diagnosis po... BeFree 17625606 Detail
0.666 polycythemia vera The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thromboc... BeFree 20551270 Detail
0.004 Hepatic Vein Thrombosis Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. BeFree 18600100 Detail
0.046 Chronic myeloproliferative disorder In an MPD with t(9;12)(q13 approximately q21;q22) and JAK2 V617F mutation, array... BeFree 17574970 Detail
0.294 Primary myelofibrosis Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time... BeFree 17018857 Detail
0.002 campomelic dysplasia The frequency of JAK2 V617F was 75.9% (249 of 328) in the CMPD group. BeFree 19258483 Detail
0.004 polycythemia vera SOCS3 transcript levels were highest in patients with polycythemia vera and othe... BeFree 18815196 Detail
0.046 Chronic myeloproliferative disorder We screened 79 acute myeloid leukemia (AML) cell lines and found five positive f... BeFree 16408098 Detail
0.666 polycythemia vera JAK2 V617F was detected in 31 of 51 patients (60.8%) with essential thrombocythe... BeFree 24858412 Detail
0.229 myelofibrosis We report here that JAK2(V617F)-associated disease is strongly associated with a... BeFree 19287382 Detail
0.294 Primary myelofibrosis However, the molecular basis of JAK2 V617F-negative essential thrombocythemia an... BeFree 21082983 Detail
0.229 myelofibrosis In polycythemia vera, JAK2 (V617F) was detected in 23 of 25 subjects at diagnosi... BeFree 16373657 Detail
0.294 Primary myelofibrosis The gain-of-function JAK2 V617F mutation shifts the phenotype of essential throm... BeFree 17875526 Detail
<0.001 Myeloid Metaplasia The present data suggests the JAK2 V617F allele burden as a key determinant of t... BeFree 17961178 Detail
0.012 Myeloproliferative disease TET2 defects were present in hematopoietic stem cells and preceded the JAK2 V617... BeFree 19474426 Detail
0.294 Primary myelofibrosis Respective clustering of unfavorable and favorable cytogenetic clones in myelofi... BeFree 16532437 Detail
0.006 polycythemia vera We conclude that the extent of JAK2(V617F) CD34(+) cell clonal dominance is asso... BeFree 18723264 Detail
<0.001 Myeloid Leukemia, Chronic LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-reg... BeFree 21950422 Detail
<0.001 Coronary Arteriosclerosis JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P... BeFree 23116358 Detail
0.666 polycythemia vera Recently, the JAK2 V617F mutation has been reported in high proportions of chron... BeFree 16321863 Detail
0.666 polycythemia vera JAK2 V617F mutation was found in 43 out of 46 patients (93.5%) with PV. BeFree 22313642 Detail
<0.001 polycythemia vera Expression of the JAK2 V617F mutant renders Ba/F3 cells hypersensitive to insuli... BeFree 16239216 Detail
0.352 Myeloproliferative disease Detection of the JAK2(V617F) mutation in myeloproliferative disorders by melting... BeFree 16831057 Detail
0.666 polycythemia vera We pay particular attention to the newly identified JAK2 V617F mutation in polyc... BeFree 17131059 Detail
0.666 polycythemia vera In polycythemia vera, gender has recently been shown to influence the JAK2(V617F... BeFree 21660494 Detail
0.014 Hematologic Neoplasms However it is not so easy, because iPSCs from hematological malignancies have be... BeFree 23807288 Detail
0.149 polycythemia JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a... BeFree 22234689 Detail
0.002 Thrombocythemia, Essential The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... BeFree 16919893 Detail
0.666 polycythemia vera However, compared with the PRV-1 assay, mutation screening for JAK2(V617F) displ... BeFree 16197445 Detail
0.462 Thrombocythemia, Essential The V617F mutation of JAK2 is the key molecular event in 90% of polycythaemia ve... BeFree 18575049 Detail
0.003 polycythemia vera We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.039 Leukemia, Myelocytic, Acute Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... BeFree 22571758 Detail
0.666 polycythemia vera Megakaryopoiesis and platelet function in polycythemia vera and essential thromb... BeFree 18612778 Detail
0.014 thrombophilia Impact of common thrombophilias and JAK2 V617F on pregnancy outcomes in unselect... BeFree 21232003 Detail
0.666 polycythemia vera JAK2 V617F is found in most patients with polycythemia vera, essential thrombocy... BeFree 19806146 Detail
0.666 polycythemia vera Polycythemia vera (PV) is a chronic myeloproliferative neoplasm associated with ... BeFree 25278584 Detail
0.005 Chronic myeloproliferative disorder Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative ... BeFree 19466975 Detail
0.462 Thrombocythemia, Essential Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and... BeFree 25042466 Detail
0.010 Erythrocytosis The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocyto... BeFree 16503548 Detail
0.352 Myeloproliferative disease Thus, targeting the pathway mediated by JAK and its downstream substrate, signal... BeFree 25538080 Detail
0.666 polycythemia vera The positive rate of JAK2 V617F in polycythaemia vera (PV), essential thrombocyt... BeFree 20331763 Detail
0.352 Myeloproliferative disease Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myelopr... BeFree 17984312 Detail
0.352 Myeloproliferative disease Conventional diagnostic criteria for myeloproliferative disorders and the JAK2 V... BeFree 18054634 Detail
0.462 Thrombocythemia, Essential An activating JAK2 mutation (JAK2 V617F) is present in the chronic myeloprolifer... BeFree 16912229 Detail
0.666 polycythemia vera A short TL correlated with JAK2-V617F allele burden greater than 50% (p = 0.0025... BeFree 23542632 Detail
0.352 Myeloproliferative disease We report a case of a 62-year-old black man with progressive abdominal swelling ... BeFree 25834519 Detail
0.285 Leukemia, Myelocytic, Acute The JAK2 V617F mutation in de novo acute myelogenous leukemias. BeFree 16247455 Detail
<0.001 Erythrocytosis Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
0.010 Erythrocytosis These data also support the hypothesis that level of JAK2(V617F) expression infl... BeFree 21242185 Detail
0.002 polycythemia vera In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... BeFree 26071474 Detail
<0.001 Glycogen Storage Disease Type VI In a patient with 2 TET2 mutations, the analysis of 5 blood samples at different... BeFree 19564637 Detail
0.352 Myeloproliferative disease Recently, Janus kinase-2 (JAK2) V617F mutation has an important role in the diag... BeFree 20306156 Detail
0.666 polycythemia vera JAK2(V617F) may assist in prognostic stratification of patients with PV. BeFree 22524513 Detail
<0.001 polycythemia vera JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation... BeFree 16239216 Detail
0.046 Chronic myeloproliferative disorder SOCS1 expression was raised in myeloproliferative disorder granulocytes but the ... BeFree 18815196 Detail
0.666 polycythemia vera All four samples were positive for JAK2 V617F, confirming the presence of a clon... BeFree 16827884 Detail
0.666 polycythemia vera The evolving evidence that JAK2 V617F is not specific for polycythemia vera path... BeFree 16781479 Detail
0.666 polycythemia vera JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofib... BeFree 20650526 Detail
0.149 polycythemia Recently, several JAK2 exons 12 and 14 mutations have been detected in V617F-neg... BeFree 19500139 Detail
0.666 polycythemia vera JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I. BeFree 18623221 Detail
0.666 polycythemia vera The JAK2 V617F somatic mutation is present in the majority of patients with myel... BeFree 23116358 Detail
0.666 polycythemia vera The JAK2(V617F) mutation is present in the majority of patients with polycythemi... BeFree 22065597 Detail
0.149 polycythemia The objective of the present study was to evaluate the diagnostic accuracy of se... BeFree 25040297 Detail
0.122 myelofibrosis This study revealed that CALR mutant essential thrombocythemia is associated wit... BeFree 25934766 Detail
0.046 Chronic myeloproliferative disorder The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors ... BeFree 22579713 Detail
0.046 Chronic myeloproliferative disorder Involvement of JAK2 in erythroid cell proliferation has been highlighted by the ... BeFree 18059484 Detail
0.046 Chronic myeloproliferative disorder In this retrospective cohort study, patients with cerebral venous thrombosis wer... BeFree 22469236 Detail
0.666 polycythemia vera An activating somatic mutation of Janus kinase 2 V617F (JAK2V617F) is present in... BeFree 17976517 Detail
0.037 Myeloproliferative disease Molecular genetic assays for the detection of the JAK2 V617F (c.1849G&gt;T) and ... BeFree 23057517 Detail
0.462 Thrombocythemia, Essential The acquired somatic Janus kinase 2 (JAK2) V617F mutation is present in the majo... BeFree 19965650 Detail
0.003 Primary myelofibrosis We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.164 thrombocytosis The lack of thrombocytosis suggests that additional events may be required for J... BeFree 17183644 Detail
0.352 Myeloproliferative disease An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-neg... BeFree 16225651 Detail
0.462 Thrombocythemia, Essential Patients with MVT and CVT were negative for JAK2 V617F, except one patient with ... BeFree 21893442 Detail
0.001 Supraventricular tachycardia Interestingly, 46/1 was associated with increased erythropoiesis in JAK2(V617F)-... BeFree 21364191 Detail
0.002 Pruritus As compared to those with less than 25% mutant allele, patients harboring greate... BeFree 17625606 Detail
0.046 Chronic myeloproliferative disorder The JAK2 V617F mutation is highly prevalent in patients with myeloproliferative ... BeFree 24963593 Detail
0.352 Myeloproliferative disease The JAK2(V617F) mutation does not elucidate the phenotypic variability observed ... BeFree 19564637 Detail
0.229 myelofibrosis Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extrame... BeFree 20859081 Detail
0.285 Leukemia, Myelocytic, Acute JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leu... BeFree 22411871 Detail
0.294 Primary myelofibrosis JAK2 exon 14 skipping in patients with primary myelofibrosis: a minor splice var... BeFree 25617626 Detail
0.294 Primary myelofibrosis JAK2 V617F-positive ET/PV and CIMF should be distinguished from wild-type JAK2 E... BeFree 16810614 Detail
0.666 polycythemia vera After a median follow-up of 41 months (range 3-114 months), three out of the 10 ... BeFree 17059429 Detail
0.352 Myeloproliferative disease The V617F mutation in the JAK2 non-receptor tyrosine kinase (JAK2V617F) is prese... BeFree 25288776 Detail
0.666 polycythemia vera Decrease in JAK2 V617F allele burden is not a prerequisite to clinical response ... BeFree 22102708 Detail
0.010 Erythrocytosis Recently, several JAK2 exons 12 and 14 mutations have been detected in V617F-neg... BeFree 19500139 Detail
0.001 thrombocytosis The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count ... BeFree 21350094 Detail
0.352 Myeloproliferative disease Detection of acquired Janus kinase 2 V617F mutation in myeloproliferative disord... BeFree 17022694 Detail
0.666 polycythemia vera The JAK2(V617F) mutation is present in the majority of patients with polycythaem... BeFree 19657484 Detail
0.007 Myeloproliferative disease SOCS1 expression was raised in myeloproliferative disorder granulocytes but the ... BeFree 18815196 Detail
0.003 Thrombocythemia, Essential Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable ... BeFree 19616600 Detail
0.127 Primary myelofibrosis This study revealed that CALR mutant essential thrombocythemia is associated wit... BeFree 25934766 Detail
0.352 Myeloproliferative disease We developed a real-time copy number polymerase chain reaction assay for deletio... BeFree 19047681 Detail
0.001 Supraventricular tachycardia Although investigation for JAK2 V617F mutation is recommended in patients presen... BeFree 23916380 Detail
0.002 Hematological Disease None of the AML patients with the JAK2 V617F mutation had a history of previous ... BeFree 16247455 Detail
0.014 thrombophilia A work-up for JAK2 V617F mutation and thrombophilia was done. BeFree 23941968 Detail
0.352 Myeloproliferative disease Recently, a single gain-of-function point mutation of JAK2 was described in myel... BeFree 20966544 Detail
0.046 Chronic myeloproliferative disorder The main conclusion is that JAK2 V617F is a 100% specific clue to a new distinct... BeFree 16810614 Detail
<0.001 polycythemia Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogeni... BeFree 25825724 Detail
0.046 Chronic myeloproliferative disorder In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CA... BeFree 26071474 Detail
0.666 polycythemia vera We tested 22 patients with high oxygen affinity beta chain variants for the pres... BeFree 16987804 Detail
0.371 Myeloid Leukemia, Chronic Abnormalities of tyrosine kinase proteins are well recognised in myeloid maligna... BeFree 21722956 Detail
<0.001 Craniometaphyseal dysplasia, autosomal dominant A substantial proportion of patients with splanchnic venous thrombosis and a sma... BeFree 17263783 Detail
0.001 Myeloid Leukemia, Chronic Previous studies have reported FLT3 mutation in as many as 9.2% of myeloprolifer... BeFree 23846442 Detail
0.666 polycythemia vera The BCR-ABL-negative myeloproliferative neoplasms (MPNs), polycythemia vera (PV)... BeFree 18769448 Detail
0.666 polycythemia vera Most patients with polycythemia vera have JAK2(V617F) mutation. BeFree 17979493 Detail
0.006 lymphoma Interestingly, one of the patients with SM and the patient with CNL with JAK2 V6... BeFree 15860661 Detail
0.012 Erythrocytosis The objective of the present study was to evaluate the diagnostic accuracy of se... BeFree 25040297 Detail
0.006 Primary myelofibrosis Reliable detection of the JAK2 V617F mutation is a major criterion in the diagno... BeFree 20560681 Detail
0.002 Thrombosis of cerebral veins Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and... BeFree 25042466 Detail
0.294 Primary myelofibrosis Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in se... BeFree 23666689 Detail
0.019 polycythemia The objective of the present study was to evaluate the diagnostic accuracy of se... BeFree 25040297 Detail
0.256 Budd-Chiari syndrome Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. BeFree 18600100 Detail
0.046 Chronic myeloproliferative disorder Prevalence of the JAK2-V617F mutation in Taiwanese patients with chronic myelopr... BeFree 18336541 Detail
0.352 Myeloproliferative disease Correlations of JAK2-V617F mutation with clinical and laboratory findings in pat... BeFree 17045648 Detail
0.046 Chronic myeloproliferative disorder Givinostat and hydroxyurea synergize in vitro to induce apoptosis of cells from ... BeFree 23111067 Detail
0.666 polycythemia vera Genetic or PAD-mediated PP2A reactivation induces Jak2(V617F) inactivation/downr... BeFree 23926298 Detail
0.666 polycythemia vera The V617F mutation of JAK2 is the key molecular event in 90% of polycythaemia ve... BeFree 18575049 Detail
0.294 Primary myelofibrosis The activating mutation of JAK2, V617F, has been found as a frequent mutation in... BeFree 22041374 Detail
0.006 Primary myelofibrosis The BCR-ABL-negative myeloproliferative neoplasms (MPNs), polycythemia vera (PV)... BeFree 18769448 Detail
0.352 Myeloproliferative disease The JAK2 V617F mutation is found in most patients with a myeloproliferative neop... BeFree 20489053 Detail
0.462 Thrombocythemia, Essential Retrospective data have identified JAK2(V617F) as a risk factor for thrombosis i... BeFree 19176988 Detail
0.666 polycythemia vera A JAK2 (V617F) gene dosage effect on both CD34(+) cell counts and granulocyte ac... BeFree 16373657 Detail
0.462 Thrombocythemia, Essential The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thromboc... BeFree 20551270 Detail
0.666 polycythemia vera An acquired V617F JAK2 mutation occurs in patients with polycythemia vera (PV) o... BeFree 16772604 Detail
0.139 thrombocytosis Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
0.462 Thrombocythemia, Essential Strikingly, the JAK2(V617F) mutation is found in nearly all patients suffering f... BeFree 20587663 Detail
0.046 Chronic myeloproliferative disorder Association between thromboembolic events and the JAK2 V617F mutation in myelopr... BeFree 24858412 Detail
0.005 Blast Phase Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor ce... BeFree 16442619 Detail
0.352 Myeloproliferative disease The JAK2(V617F) tyrosine kinase mutation in myeloproliferative disorders: Summar... BeFree 20425335 Detail
0.294 Primary myelofibrosis The recently identified JAK2(V617F) mutation is frequently present in the classi... BeFree 18048969 Detail
0.261 Leukemia, Myelocytic, Acute Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... BeFree 22571758 Detail
0.666 polycythemia vera The specificity of a JAK2 V617F PCR test for the diagnosis of MPD is high (near ... BeFree 16919893 Detail
<0.001 Extramedullary Hematopoiesis (disorder) Janus kinase 2 V617F mutation is detectable in spleen of patients with chronic m... BeFree 17707884 Detail
<0.001 polycythemia vera JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation... BeFree 16239216 Detail
0.006 Primary myelofibrosis Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential t... BeFree 24475114 Detail
0.046 Chronic myeloproliferative disorder Pathogenetic role of JAK2 V617F mutation in chronic myeloproliferative disorders... BeFree 17389152 Detail
0.294 Primary myelofibrosis In conclusion, a simple model which includes: age, JAK2 V617F-status and constit... BeFree 22280409 Detail
0.294 Primary myelofibrosis Clearance of the Janus kinase 2 (JAK2) V617F mutation after allogeneic stem cell... BeFree 17133423 Detail
0.046 Chronic myeloproliferative disorder Recent information regarding disease pathogenesis, including a contribution to t... BeFree 16675707 Detail
<0.001 Myelodysplastic/myeloproliferative neoplasm, unclassifiable Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodyspla... BeFree 16670082 Detail
0.002 Primary myelofibrosis Deregulation of apoptosis-related genes is associated with PRV1 overexpression a... BeFree 22300941 Detail
<0.001 Extramedullary Hematopoiesis (disorder) Thus, JAK2(V617F) is frequently present in splenic EMH cells associated with CMP... BeFree 17643100 Detail
0.666 polycythemia vera A unique activating mutation in JAK2 (V617F) is at the origin of polycythemia ve... BeFree 16304380 Detail
<0.001 polycythemia vera Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic ... BeFree 20013324 Detail
0.015 polycythemia vera These preliminary observations indicate that the Jak2(V617F) mutation in particu... BeFree 17852451 Detail
0.294 Primary myelofibrosis A longitudinal study of the JAK2(V617F) mutation in myelofibrosis with myeloid m... BeFree 16531268 Detail
0.294 Primary myelofibrosis The JAK2 V617F mutation has been implicated in a variety of diseases mainly rela... BeFree 19877761 Detail
0.004 acute leukemia A high JAK2(V617F) allele burden was correlated with the transformation to myelo... BeFree 22818858 Detail
0.164 thrombocytosis Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodyspla... BeFree 16670082 Detail
0.352 Myeloproliferative disease In an MPD with t(9;12)(q13 approximately q21;q22) and JAK2 V617F mutation, array... BeFree 17574970 Detail
0.046 Chronic myeloproliferative disorder We tested 22 patients with high oxygen affinity beta chain variants for the pres... BeFree 16987804 Detail
0.003 polycythemia vera We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
<0.001 Extramedullary Hematopoiesis (disorder) The role of Janus Kinase 2 V617F mutation in extramedullary hematopoiesis of the... BeFree 17643100 Detail
0.462 Thrombocythemia, Essential A 66-year-old man who presented with progressive and marked thrombocytosis but n... BeFree 20633767 Detail
0.002 Primary myelofibrosis Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such ... BeFree 23445613 Detail
0.127 Primary myelofibrosis Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positi... BeFree 25116092 Detail
0.046 Chronic myeloproliferative disorder The present study support the concept of the JAK2 V617F positive chronic myelopr... BeFree 17961178 Detail
0.046 Chronic myeloproliferative disorder JAK2(V617F) was identified in patients previously diagnosed with a myeloprolifer... BeFree 16831057 Detail
0.285 Leukemia, Myelocytic, Acute As his complete blood count included a few myeloid blasts (1% of WBC) and a bone... BeFree 22612514 Detail
0.016 Myeloid Leukemia, Chronic The JAK2 V617F mutation is common in patients with Philadelphia-negative chronic... BeFree 24293258 Detail
0.666 polycythemia vera The detection rate of JAK2 V617F mutants for polycythemia vera, chronic idiopath... BeFree 16741247 Detail
0.229 myelofibrosis The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% ... BeFree 22333011 Detail
0.462 Thrombocythemia, Essential Finally, a significant correlation between JAK2 V617F mutational status and hema... BeFree 18720212 Detail
0.462 Thrombocythemia, Essential The JAK2(V617F) mutation is present in almost all patients with polycythemia ver... BeFree 17145859 Detail
0.014 Chronic myeloproliferative disorder Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative ... BeFree 19466975 Detail
<0.001 Primary myelofibrosis Here we show that NF-E2 expression is also increased in patients with essential ... BeFree 20339092 Detail
0.666 polycythemia vera Discovery of a constitutively activating point mutation of the Janus kinase 2 (J... BeFree 17194663 Detail
0.002 Thrombosis of cerebral veins Patients with MVT and CVT were negative for JAK2 V617F, except one patient with ... BeFree 21893442 Detail
0.006 lymphoma It is hoped that the same will happen in other MPN with specific genetic alterat... BeFree 19175693 Detail
0.006 Blast Phase The fact that all JAK2(V617F)-negative cases remained negative after blast crisi... BeFree 21421540 Detail
0.294 Primary myelofibrosis JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a... BeFree 22234689 Detail
0.666 polycythemia vera Recently, Janus kinase-2 (JAK2) V617F mutation has an important role in the diag... BeFree 20306156 Detail
0.666 polycythemia vera We conclude that development of therapeutic strategies that target the JAK2(V617... BeFree 17198871 Detail
0.002 Constitutional Symptom Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) m... BeFree 25912019 Detail
<0.001 Chronic myeloproliferative disorder SOCS1 expression was raised in myeloproliferative disorder granulocytes but the ... BeFree 18815196 Detail
0.008 Hodgkin Disease JAK2 V617F mutation is uncommon in non-Hodgkin lymphomas. BeFree 16321863 Detail
0.014 Chronic myeloproliferative disorder The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in dive... BeFree 19167611 Detail
0.294 Primary myelofibrosis Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-... BeFree 24957246 Detail
0.002 Primary myelofibrosis The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... BeFree 16919893 Detail
0.462 Thrombocythemia, Essential The objective of the present study was to evaluate the diagnostic accuracy of se... BeFree 25040297 Detail
0.009 polycythemia vera Discovery of a constitutively activating point mutation of the Janus kinase 2 (J... BeFree 17194663 Detail
<0.001 Chronic myeloproliferative disorder Critical roles of Myc-ODC axis in the cellular transformation induced by myelopr... BeFree 23300995 Detail
<0.001 Myeloproliferative disease STAT5 activation is critical for the transformation mediated by myeloproliferati... BeFree 20028972 Detail
0.229 myelofibrosis However, JAK2 inhibitors have limited ability to reduce JAK2 V617F allele burden... BeFree 23313046 Detail
0.462 Thrombocythemia, Essential The JAK2 V617F mutation was strong predictor for thrombosis in essential thrombo... BeFree 24084459 Detail
0.666 polycythemia vera The JAK2-V617F mutation significantly correlated with higher leukocyte count and... BeFree 23213945 Detail
0.229 myelofibrosis An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patie... BeFree 17296581 Detail
<0.001 polycythemia vera AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia... BeFree 20339092 Detail
0.462 Thrombocythemia, Essential Open-label study of oral CEP-701 (lestaurtinib) in patients with polycythaemia v... BeFree 24903629 Detail
0.294 Primary myelofibrosis Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the p... BeFree 16990584 Detail
0.001 Chronic myeloproliferative disorder Increased PRV-1 mRNA expression and the presence of Jak2(V617F) mutation in peri... BeFree 17852451 Detail
0.352 Myeloproliferative disease Givinostat and hydroxyurea synergize in vitro to induce apoptosis of cells from ... BeFree 23111067 Detail
0.002 myelofibrosis Using novel mutation-specific PCR which is a highly sensitive PCR-based assay fo... BeFree 18612778 Detail
0.003 Activated Protein C Resistance These results support a role for platelet turnover, factor V, and aAPCR in the t... BeFree 19105233 Detail
0.002 polycythemia vera JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featur... BeFree 25116092 Detail
<0.001 Idiopathic hypereosinophilic syndrome The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or ... BeFree 18024388 Detail
0.046 Chronic myeloproliferative disorder JAK2 V617F mutation is a molecular marker for myeloproliferative neoplasms (MPNs... BeFree 25015634 Detail
0.294 Primary myelofibrosis The high prevalence of the V617F mutation of Janus kinase 2 and associated mutat... BeFree 18300758 Detail
0.001 Primary myelofibrosis Respective clustering of unfavorable and favorable cytogenetic clones in myelofi... BeFree 16532437 Detail
0.294 Primary myelofibrosis We genotyped 149 myeloproliferative neoplasms patients (69 had polycythemia vera... BeFree 20422415 Detail
0.431 melanoma At clinically informative sites, we identified seven low-frequency point mutatio... BeFree 23382536 Detail
0.004 melanoma At clinically informative sites, we identified seven low-frequency point mutatio... BeFree 23382536 Detail
Annotation

Annotations

DescrptionSourceLinks
JAK2 V617F is not associated with lymphoid leukemia (B-lineage ALL, T-ALL or CLL). CIViC Evidence Detail
In patients with JAK2 V617F, the use of pegylated IFN-alpha-2a leads to reduction in the percentage ... CIViC Evidence Detail
TG101348 effectively inhibits STAT5 signaling in JAK2 V617F cells. CIViC Evidence Detail
JAK2 V617F is associated with myeloid malignanices (AML, MDS, CMML/atypical CML). CIViC Evidence Detail
The SNP rs10974944 in the Jak2 locus is associated with increased predisposition for JAK2 V617F muta... CIViC Evidence Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND Acquired polycythemia vera ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND Primary myelofibrosis ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND Acute myeloid leukemia ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND Budd-Chiari syndrome, susceptibility to, somatic ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND Thrombocythemia 3 ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND Primary familial polycythemia due to EPO receptor muta... ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND Myeloproliferative disorder ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND Subacute lymphoid leukemia ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND multiple conditions ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND multiple conditions ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND multiple conditions ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND multiple conditions ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND multiple conditions ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND multiple conditions ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND multiple conditions ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND Polycythemia ClinVar Detail
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND not provided ClinVar Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK... DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance... DisGeNET Detail
KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance... DisGeNET Detail
We therefore investigated 426 samples from patients with hypereosinophilia of unknown significance i... DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
Histopathological categories ET and prefibrotic PMF correlate with significant differences in mutant... DisGeNET Detail
When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/... DisGeNET Detail
The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been id... DisGeNET Detail
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myel... DisGeNET Detail
As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent... DisGeNET Detail
As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/... DisGeNET Detail
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myel... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myel... DisGeNET Detail
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myel... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. DisGeNET Detail
The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been id... DisGeNET Detail
Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with PMF according to pre... DisGeNET Detail
Association of V617F Jak2 mutation with the risk of thrombosis among patients with essential thrombo... DisGeNET Detail
Absence of the V617F JAK2 mutation in the lymphoid compartment in a patient with essential thrombocy... DisGeNET Detail
The prevalence of overt MPN and that of JAK2 V617F were lower in Korean patients with SVT than in pr... DisGeNET Detail
The JAK2 V617F mutation was less common on the border of statistical significance (p = 0.08) in Cher... DisGeNET Detail
The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... DisGeNET Detail
Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myelopro... DisGeNET Detail
We recently developed a Janus kinase 2 (Jak2) small molecule inhibitor called G6 and found that it e... DisGeNET Detail
Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 ... DisGeNET Detail
Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis com... DisGeNET Detail
Mutations in the thrombopoietin receptor gene (myeloproliferative leukemia, MPL) have been reported ... DisGeNET Detail
JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustere... DisGeNET Detail
Apoptotic resistance in MMM correlated with anemia (P=0.01) and the JAK2-V617F (P=0.01). DisGeNET Detail
Accordingly, the WHO concept of two distinct entities, ET and prefibrotic IMF, does not seem to fit ... DisGeNET Detail
Recently, it has become clear that patients meeting WHO criteria for RARS-T have clonal JAK2(V617F) ... DisGeNET Detail
Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses of unknown origin b... DisGeNET Detail
Polycythemia vera and the Jak2(V617F) mutation in a case of hereditary spherocytosis. DisGeNET Detail
Atypical chronic myeloid leukemia as defined in the WHO classification is a JAK2 V617F negative neop... DisGeNET Detail
Indeed the mutation mediates a PV-like phenotype but with regard to myelofibrosis JAK2(V617F) does n... DisGeNET Detail
We recently developed a Janus kinase 2 (Jak2) small molecule inhibitor called G6 and found that it e... DisGeNET Detail
A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent m... DisGeNET Detail
The aim of this study was to describe the prevalence of main hereditary thrombophilias, Janus kinase... DisGeNET Detail
The frequency of JAK2-V617F mutation in patients with polycythaemia vera, essential thrombocythaemia... DisGeNET Detail
The JAK2(V617F) mutation is present in the majority of patients with polycythemia vera and one-half ... DisGeNET Detail
A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was... DisGeNET Detail
JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET ... DisGeNET Detail
In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to de... DisGeNET Detail
The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis. DisGeNET Detail
TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 p... DisGeNET Detail
The JAK2 V617F mutational status and allele burden may be related with the risk of venous thromboemb... DisGeNET Detail
In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm ... DisGeNET Detail
We report a case of a 62-year-old black man with progressive abdominal swelling and features of deco... DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. DisGeNET Detail
Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2) V617F mutation in more than ... DisGeNET Detail
Using this assay and serial dilutions of an erythroleukemia cell line harboring the homozygous JAK2 ... DisGeNET Detail
In essential thrombocythemia, 154 (53%) Janus kinase 2 V617F, 96 (33%) calreticulin, 9 (3%) myelopro... DisGeNET Detail
Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extramedullary hematopoiesi... DisGeNET Detail
Comparison of clinicopathologic findings according to JAK2 V617F mutation in patients with essential... DisGeNET Detail
We conclude that megakaryocytes might be the predominant or even the exclusive lineage that acquires... DisGeNET Detail
The JAK2 V617F mutational status and allele burden may be related with the risk of venous thromboemb... DisGeNET Detail
Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of th... DisGeNET Detail
We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c mice induces MPD remi... DisGeNET Detail
A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2... DisGeNET Detail
The MPNs include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (... DisGeNET Detail
JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustere... DisGeNET Detail
In contrast, this same mutation has been detected in only 4 patients with CNL to date, suggesting th... DisGeNET Detail
Dysregulated signaling is a hallmark of chronic myeloproliferative neoplasms (MPNs), as evidenced by... DisGeNET Detail
An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patients with chronic idi... DisGeNET Detail
Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphory... DisGeNET Detail
Fli-1 protein expression by myeloid progenitors was considerably heterogenous in Ph(-) CMPD independ... DisGeNET Detail
In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can... DisGeNET Detail
The Janus-associated Kinase-2 mutation JAK2 V617F in chronic myeloproliferative disorders (CMPDs) ha... DisGeNET Detail
Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV an... DisGeNET Detail
This study revealed that CALR mutant essential thrombocythemia is associated with younger age, highe... DisGeNET Detail
The association of V617F JAK2 expression levels with disease behavior has not been studied in patien... DisGeNET Detail
It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia v... DisGeNET Detail
We found twelve individuals with the JAK2 V617F mutation; five of them had been clinically classifie... DisGeNET Detail
JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (33%) with myelofibros... DisGeNET Detail
Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a charac... DisGeNET Detail
LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17,... DisGeNET Detail
Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a sing... DisGeNET Detail
Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with r... DisGeNET Detail
The frequency of the JAK2 (V617F) mutation varied between the MPD subtypes, with the mutation being ... DisGeNET Detail
The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% for ET, 80% for myel... DisGeNET Detail
The major incentives for this review have been the recent description of an activating JAK2 tyrosine... DisGeNET Detail
Presence of JAK2(V617F) in bone marrow might therefore increase the risk of future MPD development, ... DisGeNET Detail
In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm ... DisGeNET Detail
STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associat... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
The JAK2 V617F mutation frequently occurs in patients with portal and mesenteric venous thrombosis. DisGeNET Detail
The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... DisGeNET Detail
We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acu... DisGeNET Detail
In addition, Bcr/Abl-negative classic myeloproliferative disorders are characterized by recurrent JA... DisGeNET Detail
The aim of this study was to clarify whether JAK2(V617F) PV with thromboembolism is characterised by... DisGeNET Detail
The JAK2-V617F mutation can be frequently detected in the Taiwanese patients with MPD disorders and ... DisGeNET Detail
JAK2(V617F) allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage... DisGeNET Detail
Recent studies have identified a recurrent somatic activating mutation (JAK2 V617F) in majority of p... DisGeNET Detail
Catastrophic intra-abdominal thrombosis can result from a variety of prothrombotic states, including... DisGeNET Detail
Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm... DisGeNET Detail
Correlations are emerging between leukocytosis, JAK2(V617F) mutation, BM fibrosis, and different out... DisGeNET Detail
Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV an... DisGeNET Detail
The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are m... DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
Recently, a single gain-of-function point mutation of JAK2 was described in myeloproliferative disea... DisGeNET Detail
In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MP... DisGeNET Detail
Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis com... DisGeNET Detail
Evaluation of clinical and laboratory findings with JAK2 V617F mutation as an independent variable i... DisGeNET Detail
Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor B... DisGeNET Detail
Molecular mimicry in the chronic myeloproliferative disorders: reciprocity between quantitative JAK2... DisGeNET Detail
JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause... DisGeNET Detail
MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F ... DisGeNET Detail
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which f... DisGeNET Detail
The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia... DisGeNET Detail
Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), ... DisGeNET Detail
The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JA... DisGeNET Detail
Influence of the JAK2 V617F mutation and inherited thrombophilia on the thrombotic risk among patien... DisGeNET Detail
We investigated this question using conditional JAK2(V617F) knock-in mice with constitutive and indu... DisGeNET Detail
The JAK2 V617F mutation is found in most patients with a myeloproliferative neoplasm and is sufficie... DisGeNET Detail
JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not su... DisGeNET Detail
Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: imp... DisGeNET Detail
Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibr... DisGeNET Detail
Recently, it has become clear that patients meeting WHO criteria for RARS-T have clonal JAK2(V617F) ... DisGeNET Detail
Mutations in TET2, RUNX1 and JAK2(V617F) are involved in myelodysplastic and/or myeloproliferative s... DisGeNET Detail
Allele-specific wild-type blocker quantitative PCR for highly sensitive detection of rare JAK2 p.V61... DisGeNET Detail
STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associat... DisGeNET Detail
We could confirm a very high sensitivity, specificity and utility of the Jak2(V617F) mutation for di... DisGeNET Detail
The V617F mutation in the JAK2 gene on chromosome 9p24.1 was identified recently in peripheral blood... DisGeNET Detail
Children and adults with sporadic ET showed a similar proportion of patients with PRV-1 RNA overexpr... DisGeNET Detail
It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia v... DisGeNET Detail
As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive patients had PV-like ... DisGeNET Detail
Mesenteric venous thrombosis secondary to an unsuspected JAK2 V617F-positive myeloproliferative diso... DisGeNET Detail
Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of th... DisGeNET Detail
JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the los... DisGeNET Detail
We recently developed a Janus kinase 2 (Jak2) small molecule inhibitor called G6 and found that it e... DisGeNET Detail
Megakaryocytic morphology and clinical parameters in essential thrombocythemia, polycythemia vera, a... DisGeNET Detail
The development of gastric cancer in a patient with polycythemia Vera, 3P deletion, and JAK2 V617F m... DisGeNET Detail
JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease p... DisGeNET Detail
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which f... DisGeNET Detail
Methods for the detection of the JAK2 V617F mutation in human myeloproliferative disorders. DisGeNET Detail
LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17,... DisGeNET Detail
QuanTAS-PCR is a simple, cost-efficient, closed-tube method for JAK2 V617F mutation quantification t... DisGeNET Detail
Microfluidics-based assays can reduce the assay time and sample/reagent consumption and enhance the ... DisGeNET Detail
Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential thrombocythemia and po... DisGeNET Detail
We studied the sensitivity and reproducibility of LightScanner™ platform in the detection of JAK2 V6... DisGeNET Detail
In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm ... DisGeNET Detail
The association between venous thrombosis outside the splanchnic area as well arterial thromboemboli... DisGeNET Detail
Incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis an... DisGeNET Detail
The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF). DisGeNET Detail
Only the ZNF577 gene showed a differential methylation profile between PV JAK2 V617F positive and co... DisGeNET Detail
JAK2 V617F-positive ET/PV and CIMF should be distinguished from wild-type JAK2 ET, rare cases of PV,... DisGeNET Detail
Presence of the JAK2 V617F mutation in a patient with chronic neutrophilic leukemia and effective re... DisGeNET Detail
These results support a role for platelet turnover, factor V, and aAPCR in the thrombosis of ET as w... DisGeNET Detail
Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a minimal residual di... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
The discovery of an activating somatic mutation in codon 617 of the gene encoding the Janus kinase (... DisGeNET Detail
A longitudinal study of the JAK2(V617F) mutation in myelofibrosis with myeloid metaplasia: analysis ... DisGeNET Detail
TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 p... DisGeNET Detail
Abnormal nuclear megakaryocytic staining for phospho-STAT5 (pSTAT5) correlates with JAK2 V617F mutat... DisGeNET Detail
However it is not so easy, because iPSCs from hematological malignancies have been established only ... DisGeNET Detail
We report the case of an untreated 32-year-old woman with a history of JAK2 V617F-positive ET with c... DisGeNET Detail
The acquired JAK2 V617F mutation is common in patients with myeloproliferative neoplasms. DisGeNET Detail
Patients with PV who were homozygous or heterozygous for JAK2-V617F exhibited higher levels of expre... DisGeNET Detail
The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F. DisGeNET Detail
Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphory... DisGeNET Detail
JAK2 V617F genotype is a strong determinant of blast transformation in primary myelofibrosis. DisGeNET Detail
We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycyth... DisGeNET Detail
Altered gene expression in myeloproliferative disorders correlates with activation of signaling by t... DisGeNET Detail
Thus, mice developing PV secondary to constitutive JAK2(V617F) expression exhibit a bleeding tendenc... DisGeNET Detail
The classical Philadelphia chromosome-negative myeloproliferative neoplasms consist of three main pa... DisGeNET Detail
JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P = 2 × 10(-5) ), thr... DisGeNET Detail
The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or chronic eosinophilic... DisGeNET Detail
An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-negative myeloprolifera... DisGeNET Detail
These changes and the resultant clinical research are discussed in this article where we argue that ... DisGeNET Detail
Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative neoplasm (MPN) patie... DisGeNET Detail
Genetic or PAD-mediated PP2A reactivation induces Jak2(V617F) inactivation/downregulation and impair... DisGeNET Detail
Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable diagnoses, a JAK2(V6... DisGeNET Detail
88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PMF were positive for ... DisGeNET Detail
In a retrospective study, we examined the frequency of MPL and CALR mutations in JAK2 V617F-negative... DisGeNET Detail
Lastly, JAK2 V617F mutant allele burden was found much higher in polycythemia vera (PV) patients [me... DisGeNET Detail
Myeloproliferative disorders (MPDs) are often associated with the presence of the JAK2-V617F mutatio... DisGeNET Detail
Association between thromboembolic events and the JAK2 V617F mutation in myeloproliferative neoplasm... DisGeNET Detail
A molecular fingerprint distinguishes JAK2(V617F)-positive MPN patients without response to HU treat... DisGeNET Detail
The clinical and pathological data on JAK2 V617F-positive MPD patients suggest that the JAK2 V617F m... DisGeNET Detail
Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is assoc... DisGeNET Detail
MPL mutation testing is recommended in patients with suspected primary myelofibrosis or essential th... DisGeNET Detail
In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to de... DisGeNET Detail
The V617F JAK2 mutation was absent within the patients with secondary erythrocytosis or thrombocytos... DisGeNET Detail
Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is assoc... DisGeNET Detail
Finally, we show that IL-27R can functionally replace a homodimeric type I cytokine receptor in the ... DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disor... DisGeNET Detail
JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia. DisGeNET Detail
Children and adults with sporadic ET showed a similar proportion of patients with PRV-1 RNA overexpr... DisGeNET Detail
Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of th... DisGeNET Detail
Circulating endothelial cells in essential thrombocythemia and polycythemia vera: correlation with J... DisGeNET Detail
AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelof... DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to de... DisGeNET Detail
The results of the current clinical study support previous laboratory observations that link JAK2(V6... DisGeNET Detail
These data suggest that erythrocytosis and granulocytosis in JAK2(V617F) mice are the net result of ... DisGeNET Detail
The frequency of JAK2-V617F mutation in patients with polycythaemia vera, essential thrombocythaemia... DisGeNET Detail
The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloprolifer... DisGeNET Detail
Among the patients without overt CMD or thrombophilia and with unprovoked thrombosis, 29.4% (95% CI ... DisGeNET Detail
Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis com... DisGeNET Detail
JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause... DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
The JAK2 V617F mutation has recently been described as an essential oncogenic event associated with ... DisGeNET Detail
Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is assoc... DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative... DisGeNET Detail
The high prevalence of the V617F mutation of Janus kinase 2 and associated mutations in myeloprolife... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
Furthermore, the molecular markers trisomy 8 and JAK2 V617F were found in the grown endothelial cell... DisGeNET Detail
Novel treatment strategies are under investigation, including targeted inhibition of JAK2(V617F), th... DisGeNET Detail
Thus, while JAK2 V617F is uncommon in de novo AML and probably does not occur in lymphoid malignancy... DisGeNET Detail
Activating mutation (V617F) in the tyrosine kinase JAK2 is absent in locally-confined or castration-... DisGeNET Detail
Given that the identical somatic activating mutation in the JAK2 tyrosine kinase gene (JAK2(V617F)) ... DisGeNET Detail
However, compared with their heterozygote counterparts, JAK2(V617F) homozygote patients displayed a ... DisGeNET Detail
Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary ... DisGeNET Detail
The present data suggests the JAK2 V617F allele burden as a key determinant of the degree of myelopr... DisGeNET Detail
The recent discovery of mutations within the CALR gene in up to 80% of JAK2 V617F-negative ET and PM... DisGeNET Detail
These data suggest that erythrocytosis and granulocytosis in JAK2(V617F) mice are the net result of ... DisGeNET Detail
Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patie... DisGeNET Detail
The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3... DisGeNET Detail
We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acu... DisGeNET Detail
Plasma levels of angiogenic factors and circulating endothelial cells in essential thrombocythemia: ... DisGeNET Detail
STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associat... DisGeNET Detail
It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majority of the patients w... DisGeNET Detail
The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3... DisGeNET Detail
JAK2(V617F), a mutant of tyrosine kinase JAK2, is found in most patients with polycythemia vera (PV)... DisGeNET Detail
New insights into the pathogenesis of JAK2 V617F-positive myeloproliferative disorders and consequen... DisGeNET Detail
A new mutation (V617F) affecting the JAK2 gene has been recently described as acquired in patients w... DisGeNET Detail
Therefore, although the presence of JAK2(V617F) in ET appears to promote a PV phenotype, it might no... DisGeNET Detail
The classical Philadelphia chromosome-negative myeloproliferative neoplasms consist of three main pa... DisGeNET Detail
SOCS3 transcript levels were highest in patients with polycythemia vera and other JAK2 V617F positiv... DisGeNET Detail
A somatic mutation (V617F) resulting in enhanced JAK2 kinase activity can be frequently found in pat... DisGeNET Detail
The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and myelofibrosis in acrom... DisGeNET Detail
These data indicate that loss of wild-type clones at the progenitor level is a feature of MF (primar... DisGeNET Detail
A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycytha... DisGeNET Detail
The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloprolifer... DisGeNET Detail
Mutations in TET2, RUNX1 and JAK2(V617F) are involved in myelodysplastic and/or myeloproliferative s... DisGeNET Detail
The JAK2 V617F mutation has been detected in patients with classical myeloproliferative disorders (M... DisGeNET Detail
Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogenei... DisGeNET Detail
The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients... DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... DisGeNET Detail
Platelet turnover, coagulation factors, and soluble markers of platelet and endothelial activation i... DisGeNET Detail
Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 ... DisGeNET Detail
Clinical significance of V617F mutation of the JAK2 gene in patients with chronic myeloproliferative... DisGeNET Detail
Fli-1 mRNA expression was significantly higher in Essential thrombocythaemia (ET) with JAK2 (V617F) ... DisGeNET Detail
After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying th... DisGeNET Detail
In conclusion, constitutive heterozygous expression of JAK2(V617F) in mice is not embryo-lethal but ... DisGeNET Detail
Recurrent refractory arterial thromboembolism associated with the Janus kinase 2 V617F mutation. DisGeNET Detail
However, until the recent description of the constitutively activating V617F point mutation of the J... DisGeNET Detail
In order to explore the correlation between these two biological markers and compare their diagnosti... DisGeNET Detail
The first international meeting on V617F JAK2 mutation and its relevance in Philadelphia-negative my... DisGeNET Detail
Calreticulin mutations (CALR(MUT)) are found in a significant proportion of patients with essential ... DisGeNET Detail
Heterozygous and homozygous JAK2(V617F) states modeled by induced pluripotent stem cells from myelop... DisGeNET Detail
The classical Philadelphia chromosome-negative myeloproliferative neoplasms consist of three main pa... DisGeNET Detail
We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F)... DisGeNET Detail
In a patient with 2 TET2 mutations, the analysis of 5 blood samples at different phases of her disea... DisGeNET Detail
Proteomic study of the impact of the JAK2-V617F mutation on the phenotype of essential thrombocythem... DisGeNET Detail
In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to de... DisGeNET Detail
The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include ess... DisGeNET Detail
Meta-analyses in essential thrombocythemia documented Janus kinase 2 (JAK2) V617F as being associate... DisGeNET Detail
Patients with CALR-mutated ET showed a higher platelet count (P = .017) and a lower cumulative incid... DisGeNET Detail
Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele... DisGeNET Detail
This indicates that JAK2 V617-positive ET patients, diagnosed according to the PVSG criteria, repres... DisGeNET Detail
The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloprolifer... DisGeNET Detail
Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm... DisGeNET Detail
In conclusion, allogeneic stem cell transplantation after dose-reduced conditioning induces high rat... DisGeNET Detail
The JAK2 [V617F] mutation has recently been recognised as critical to the pathogenesis of the myelop... DisGeNET Detail
To evaluate whether risk scores used to classify patients with primary myelofibrosis and JAK-2 V617F... DisGeNET Detail
A recent novel mutation in the Janus activated kinase 2 gene involving a gain-of-function substitute... DisGeNET Detail
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... DisGeNET Detail
Presence of JAK2(V617F) in bone marrow might therefore increase the risk of future MPD development, ... DisGeNET Detail
JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the los... DisGeNET Detail
Furthermore, patients affected by essential thrombocythemia who are carriers of the Janus kinase 2 V... DisGeNET Detail
The detection rate of JAK2 V617F mutants for polycythemia vera, chronic idiopathic myelofibrosis, an... DisGeNET Detail
Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandator... DisGeNET Detail
Heterozygous and homozygous JAK2(V617F) states modeled by induced pluripotent stem cells from myelop... DisGeNET Detail
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. DisGeNET Detail
Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 ... DisGeNET Detail
The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specifici... DisGeNET Detail
The JAK2 V617F tyrosine kinase mutation is present in the great majority of patients with polycythem... DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
Evidence of jak2 val617phe positive essential thrombocythemia with splanchnic thrombosis during estr... DisGeNET Detail
the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that chara... DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
The JAK2(V617F) tyrosine kinase mutation identifies clinically latent myeloproliferative disorders i... DisGeNET Detail
Genetic or PAD-mediated PP2A reactivation induces Jak2(V617F) inactivation/downregulation and impair... DisGeNET Detail
Incidence and significance of the JAK2 V617F mutation in patients with chronic myeloproliferative di... DisGeNET Detail
Polycythemia vera (PV) is characterized by erythrocytosis associated with the presence of the activa... DisGeNET Detail
JAK2 V617F positive essential thrombocythemia developing in a patient with CD5⁻ chronic lymphocytic ... DisGeNET Detail
In this study, we compared the plasma cytokine profiles of polycythemia vera (PV) patients and essen... DisGeNET Detail
JAK2(V617F), a mutant of tyrosine kinase JAK2, is found in most patients with polycythemia vera (PV)... DisGeNET Detail
Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor cells from patients wi... DisGeNET Detail
All of our PV patients with thrombosis and most of our ET patients with thrombosis (76.1%) were JAK2... DisGeNET Detail
Influence of the JAK2 V617F mutation and inherited thrombophilia on the thrombotic risk among patien... DisGeNET Detail
The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... DisGeNET Detail
JAK2 V617F mutations were detected in 6 of the 28 patients with bone marrow fibrosis presenting at t... DisGeNET Detail
We selected the six patients with myelodysplastic syndromes or AML because they carried acquired rea... DisGeNET Detail
Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV an... DisGeNET Detail
The V617F mutation in the JAK2 non-receptor tyrosine kinase (JAK2V617F) is present as an early somat... DisGeNET Detail
An acquired V617F JAK2 mutation occurs in patients with polycythemia vera (PV) or essential thromboc... DisGeNET Detail
In 2005, a point mutation in JAK2 (JAK2-V617F) was identified in a number of neoplastic myeloprolife... DisGeNET Detail
Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of... DisGeNET Detail
In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm ... DisGeNET Detail
The JAK2(V617F) tyrosine kinase mutation identifies clinically latent myeloproliferative disorders i... DisGeNET Detail
Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferat... DisGeNET Detail
Clinically suspected PV with low serum erythropoietin and absent JAK2(V617F), together with the bone... DisGeNET Detail
Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a CALR exon 9 indel, ... DisGeNET Detail
We found an association between JAK2 V617F and thrombotic events in patients with PV and ET. DisGeNET Detail
These findings suggest that, despite the phenotypical difference, the outcome of JAK2 exon 12 mutati... DisGeNET Detail
With the use of an in vitro culture system to generate differentiating erythroid cells, we found tha... DisGeNET Detail
The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause E... DisGeNET Detail
The aim of this study was to describe the prevalence of main hereditary thrombophilias, Janus kinase... DisGeNET Detail
The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative... DisGeNET Detail
One hundred and forty four patients with a clinical indication of suspected polycythemia vera (PV), ... DisGeNET Detail
Although the V617F JAK2 mutation has been described by several groups to be associated with classica... DisGeNET Detail
Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandator... DisGeNET Detail
Mice engrafted with 30% of Jak2(V617F) KI bone marrow (BM) cells developed a polycythemia vera-like ... DisGeNET Detail
We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acu... DisGeNET Detail
We retrospectively analysed laboratory and clinical findings of 106 consecutive patients with ET to ... DisGeNET Detail
Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in several myeloid prolif... DisGeNET Detail
Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a charac... DisGeNET Detail
These data suggest that erlotinib may be used for treatment of JAK2(V617F)-positive PV and other mye... DisGeNET Detail
JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the litera... DisGeNET Detail
The JAK2 c.1849G&gt;T (p.V617F) mutation leads to constitutive activation of Janus kinase (JAK)2 and... DisGeNET Detail
Calreticulin mutations (CALR(MUT)) are found in a significant proportion of patients with essential ... DisGeNET Detail
Reliable detection of the JAK2 V617F mutation is a major criterion in the diagnosis of BCR/ABL-negat... DisGeNET Detail
The JAK2 V617F mutational status and its allele burden correlate with the clinicohematologic phenoty... DisGeNET Detail
The JAK2 V617F somatic mutation is found in most PV patients; however, it is not the disease-initiat... DisGeNET Detail
JAK2 V617F mutation is a molecular marker for myeloproliferative neoplasms (MPNs). DisGeNET Detail
JAK2(V617F) allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage... DisGeNET Detail
JAK2 V617F gene mutation in the laboratory work-up of myeloproliferative disorders: experience of a ... DisGeNET Detail
The JAK2 V617F mutation has been detected in patients with classical myeloproliferative disorders (M... DisGeNET Detail
The role of serum erythropoietin level and JAK2 V617F allele burden in the diagnosis of polycythaemi... DisGeNET Detail
Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid ... DisGeNET Detail
We conclude that the extent of JAK2(V617F) CD34(+) cell clonal dominance is associated with disease ... DisGeNET Detail
The JAK2 V617F mutation is an independent risk factor for MPN and SVT. DisGeNET Detail
It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia v... DisGeNET Detail
Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele... DisGeNET Detail
A molecular fingerprint distinguishes JAK2(V617F)-positive MPN patients without response to HU treat... DisGeNET Detail
Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary ... DisGeNET Detail
The JAK2 V617F mutation is highly prevalent in patients with myeloproliferative neoplasms (MPN). DisGeNET Detail
The JAK2(V617F) mutation is present in almost all patients with polycythemia vera (PV), large propor... DisGeNET Detail
JAK2 V617F tyrosine kinase mutation in cell lines derived from myeloproliferative disorders. DisGeNET Detail
The Janus kinase 2 (JAK2) V617F mutation was present in 34 (85.3%) PV, 2 (50%) IE, 1 (50%) apparent ... DisGeNET Detail
The diagnosis and management of polycythemia vera, essential thrombocythemia, and primary myelofibro... DisGeNET Detail
However, it is very clear that some patients with classical PV lack the JAK2 V617F mutation, while s... DisGeNET Detail
Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a minimal residual di... DisGeNET Detail
JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IG... DisGeNET Detail
The nature of the specific oncogenic mutation(s) is currently being unraveled with the recent discov... DisGeNET Detail
Currently, the occurrence of the JAK2 V617F mutation is well recognized in chronic myeloproliferativ... DisGeNET Detail
The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include ess... DisGeNET Detail
The JAK2/V617F mutation has been noted in essential thrombocytemia. DisGeNET Detail
CD34(+) cell JAK2(V617F) clonal dominance, defined as coherence between the CD34(+) cell and neutrop... DisGeNET Detail
These data also support the hypothesis that level of JAK2(V617F) expression influences the MPN pheno... DisGeNET Detail
The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes towa... DisGeNET Detail
In a second patient positive for JAK2-V617F at transformation, but with JAK2-V617F-negative leukemic... DisGeNET Detail
In conclusion, constitutive heterozygous expression of JAK2(V617F) in mice is not embryo-lethal but ... DisGeNET Detail
We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acu... DisGeNET Detail
The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia... DisGeNET Detail
Megakaryocytes are homozygous in the majority of fibrotic CIMF and PV, whereas JAK2(V617F) heterozyg... DisGeNET Detail
JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET ... DisGeNET Detail
The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specifici... DisGeNET Detail
The incidence of JAK2 V617F mutation in bcr/abl-negative chronic myeloproliferative disorders: asses... DisGeNET Detail
Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of th... DisGeNET Detail
A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm progression. DisGeNET Detail
The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include ess... DisGeNET Detail
Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphory... DisGeNET Detail
Association between thromboembolic events and the JAK2 V617F mutation in myeloproliferative neoplasm... DisGeNET Detail
The gain of function mutation JAK2-V617F is very frequently found in myeloproliferative neoplasms (M... DisGeNET Detail
The V617F JAK2 mutation was absent within the patients with secondary erythrocytosis or thrombocytos... DisGeNET Detail
In AMM, the presence of JAK2(V617F) was associated with an older age at diagnosis and a history of t... DisGeNET Detail
Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary ... DisGeNET Detail
JAK2 V617F distribution was PV 40/45 (89%), ET 30/43 (69%), and IMF 7/15 (47%). DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
The JAK2(V617F) mutation is present in the majority of patients with polycythaemia vera and in appro... DisGeNET Detail
The acquired mutation Val617Phe in the tyrosine kinase JAK2 was recently identified in most but not ... DisGeNET Detail
The V617F mutation in the Janus Kinase 2 gene (JAK2(V617F)) was recently shown to be frequently and ... DisGeNET Detail
We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50... DisGeNET Detail
The BCR-ABL-negative myeloproliferative neoplasms (MPNs), polycythemia vera (PV), essential thromboc... DisGeNET Detail
Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPN... DisGeNET Detail
Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, i... DisGeNET Detail
The 2005 JAK2 V617F discovery and the 2008 WHO diagnostic guideline for the JAK2 V617F mutation coin... DisGeNET Detail
Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor B... DisGeNET Detail
Here we show that NF-E2 expression is also increased in patients with essential thrombocythemia and ... DisGeNET Detail
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disor... DisGeNET Detail
The JAK2 V617F mutation is present in most patients with polycythemia vera, but in fewer patients wi... DisGeNET Detail
We screened 79 acute myeloid leukemia (AML) cell lines and found five positive for JAK2 V617F (HEL, ... DisGeNET Detail
The activating mutation of JAK2, V617F, has been found as a frequent mutation in myeloproliferative ... DisGeNET Detail
Sixty-eight BCR/ABL-negative MPD patients (46.3%) were found harboring JAK2 V617F mutation (PV, 62.5... DisGeNET Detail
An acquired somatic mutation in the JAK2 gene (JAK2-V617F) is present in the majority of patients wi... DisGeNET Detail
The gain-of-function JAK2 V617F mutation shifts the phenotype of essential thrombocythemia and chron... DisGeNET Detail
Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patie... DisGeNET Detail
JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not su... DisGeNET Detail
The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... DisGeNET Detail
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK... DisGeNET Detail
JAK2 V617F also induced leukocytosis and neutrophilia that was much more prominent in Balb/c mice th... DisGeNET Detail
Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2) V617F mutation in more than ... DisGeNET Detail
JAK2(V617F) and leukemic transformation in myelofibrosis with myeloid metaplasia. DisGeNET Detail
Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 ... DisGeNET Detail
Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 w... DisGeNET Detail
A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 ... DisGeNET Detail
Reliable detection of the JAK2 V617F mutation is a major criterion in the diagnosis of BCR/ABL-negat... DisGeNET Detail
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which f... DisGeNET Detail
Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm... DisGeNET Detail
JAK2 V617F mutation is associated with 5q- syndrome in Chinese. DisGeNET Detail
Both patients with familial PV carrying an exon 12 mutation had an affected sibling with JAK2 (V617F... DisGeNET Detail
A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycytha... DisGeNET Detail
Limited efficacy of BMS-911543 in a murine model of Janus kinase 2 V617F myeloproliferative neoplasm... DisGeNET Detail
There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated all... DisGeNET Detail
The JAK2 V617F mutation is absent in patients with erythrocytosis due to high oxygen affinity hemogl... DisGeNET Detail
JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustere... DisGeNET Detail
A somatic activating mutation (V617F) in the JAK2 tyrosine kinase was recently discovered in the maj... DisGeNET Detail
Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, poly... DisGeNET Detail
Further investigations for intracoronary thrombus with no underlying atherosclerotic disease reveale... DisGeNET Detail
Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a sing... DisGeNET Detail
Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandator... DisGeNET Detail
An activating JAK2 mutation (JAK2 V617F) is present in the chronic myeloproliferative disorders (MPD... DisGeNET Detail
Furthermore, patients affected by essential thrombocythemia who are carriers of the Janus kinase 2 V... DisGeNET Detail
A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myelopro... DisGeNET Detail
However, it is very clear that some patients with classical PV lack the JAK2 V617F mutation, while s... DisGeNET Detail
At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were ... DisGeNET Detail
The present report describes two chronic myelogenous leukemia (CML) patients with the JAK2-V617F mut... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
Since the V617F mutation in JAK2 may not be the initiating event in myeloprofilerative disorders (MP... DisGeNET Detail
We conclude that JAK2 V617F mutation is uncommon in the 3q21q26 syndrome and that its presence may i... DisGeNET Detail
HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: cli... DisGeNET Detail
There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated all... DisGeNET Detail
LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17,... DisGeNET Detail
Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. DisGeNET Detail
MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F ... DisGeNET Detail
JAK2 V617F positive essential thrombocythemia developing in a patient with CD5⁻ chronic lymphocytic ... DisGeNET Detail
We report here the first profound and sustained molecular responses with a JAK2 V617F allele burden ... DisGeNET Detail
The V617F activating mutation of janus kinase 2 (JAK2), a kinase essential for cytokine signalling, ... DisGeNET Detail
It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majority of the patients w... DisGeNET Detail
JAK2 V617F mutation is associated with 5q- syndrome in Chinese. DisGeNET Detail
In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MP... DisGeNET Detail
Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in several myeloid prolif... DisGeNET Detail
The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the d... DisGeNET Detail
Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is assoc... DisGeNET Detail
And finally, Will the benefits conferred by current or future JAK2(V617F) inhibitors equal or even s... DisGeNET Detail
The acquired somatic Janus kinase 2 (JAK2) V617F mutation is present in the majority of PV and ET pa... DisGeNET Detail
Given that the identical somatic activating mutation in the JAK2 tyrosine kinase gene (JAK2(V617F)) ... DisGeNET Detail
Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progenitor in polycythemia ... DisGeNET Detail
In the current study, mutation analysis for JAK2(V617F) was performed in peripheral blood mononuclea... DisGeNET Detail
Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a sing... DisGeNET Detail
Only tumor necrosis factor-α and platelet derived growth factor-BB were specifically impacted by the... DisGeNET Detail
Correlation of JAK2 V617F mutant allele quantitation with clinical presentation and type of chronic ... DisGeNET Detail
The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JA... DisGeNET Detail
The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3... DisGeNET Detail
Amplification refractory mutation system, a highly sensitive and simple polymerase chain reaction as... DisGeNET Detail
Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with r... DisGeNET Detail
JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from polycythemia vera. DisGeNET Detail
These results support a role for platelet turnover, factor V, and aAPCR in the thrombosis of ET as w... DisGeNET Detail
Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2) V617F mutation in more than ... DisGeNET Detail
Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myelo... DisGeNET Detail
Sex differences in the JAK2 V617F allele burden in chronic myeloproliferative disorders. DisGeNET Detail
To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis of the 3q21q26 synd... DisGeNET Detail
We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c mice induces MPD remi... DisGeNET Detail
Although the Jak2-V617F mutation has generated strong awareness because of its causative role in mye... DisGeNET Detail
No evidence for JAK2(V617F) mutation in monoclonal B cells in 2 patients with polycythaemia vera and... DisGeNET Detail
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... DisGeNET Detail
Finally, the JAK2-V617F load did not influence serum apolipoprotein A-1 levels in ET, a previously v... DisGeNET Detail
The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibros... DisGeNET Detail
Retrospective data have identified JAK2 V617F as a risk factor for thrombosis in essential thrombocy... DisGeNET Detail
These data suggest that erlotinib may be used for treatment of JAK2(V617F)-positive PV and other mye... DisGeNET Detail
Among patients with PV and ET, methylation of the PRV-1 gene is also inversely correlated with the p... DisGeNET Detail
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... DisGeNET Detail
A single mutation 1849G&gt;T in the JAK2 gene (V617F) has recently been described in classical myelo... DisGeNET Detail
Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid ... DisGeNET Detail
The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3... DisGeNET Detail
In bone marrow reconstitution models based on retroviral transduction, the phenotype induced by JAK2... DisGeNET Detail
A somatic activating mutation (V617F) in the JAK2 tyrosine kinase was recently discovered in the maj... DisGeNET Detail
Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a sing... DisGeNET Detail
Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, i... DisGeNET Detail
We compared the laboratory and clinical findings of 179 patients with essential thrombocythemia (ET)... DisGeNET Detail
We conclude that the extent of JAK2(V617F) CD34(+) cell clonal dominance is associated with disease ... DisGeNET Detail
TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 p... DisGeNET Detail
JAK2 V617F mutations were detected in 6 of the 28 patients with bone marrow fibrosis presenting at t... DisGeNET Detail
Bone marrow phospho-STAT5 expression in non-CML chronic myeloproliferative disorders correlates with... DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
The MPNs include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (... DisGeNET Detail
The role of JAK2 V617F mutation, spontaneous erythropoiesis and megakaryocytopoiesis, hypersensitive... DisGeNET Detail
Our results seem to confirm that CLL cases are negative for JAK2(V617F) mutation in B- and T-lymphoc... DisGeNET Detail
In addition, it provides evidence that despite the fact that angiogenesis is generally independent o... DisGeNET Detail
However, the recent identification of a V617F mutation in the JH2 domain of the JAK2 gene in a high ... DisGeNET Detail
Megakaryocytic morphology also differed between primary myelofibrosis JAK2 V617F and essential throm... DisGeNET Detail
In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
Finally, we show that IL-27R can functionally replace a homodimeric type I cytokine receptor in the ... DisGeNET Detail
JAK2-V617F mutation analysis of granulocytes and platelets from patients with chronic myeloprolifera... DisGeNET Detail
The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative regulation by suppress... DisGeNET Detail
Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patie... DisGeNET Detail
The V617F activating point mutation in Jak2 is associated with a proportion of myeloproliferative di... DisGeNET Detail
The aim of this study was to describe the prevalence of main hereditary thrombophilias, Janus kinase... DisGeNET Detail
Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary ... DisGeNET Detail
Microfluidics-based assays can reduce the assay time and sample/reagent consumption and enhance the ... DisGeNET Detail
The aim of this study was to clarify whether JAK2(V617F) PV with thromboembolism is characterised by... DisGeNET Detail
These data also support the hypothesis that level of JAK2(V617F) expression influences the MPN pheno... DisGeNET Detail
Specifically, five derivative compounds of G6 having structural similarity to the original lead comp... DisGeNET Detail
Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of... DisGeNET Detail
the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that chara... DisGeNET Detail
We found an association between JAK2 V617F and thrombotic events in patients with PV and ET. DisGeNET Detail
Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPN... DisGeNET Detail
Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myelopro... DisGeNET Detail
The high prevalence of the V617F mutation of Janus kinase 2 and associated mutations in myeloprolife... DisGeNET Detail
Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associ... DisGeNET Detail
Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycyth... DisGeNET Detail
In patients with SVT, screening for the JAK2 V617F mutation may be useful in recognising patients wh... DisGeNET Detail
JAK2(V617F), the main mutation involved in MPN, is considered as a risk factor for thrombosis, altho... DisGeNET Detail
Non-reactive platelet counts elevation occurs mainly in myeloproliferative disorders (MPDs), which h... DisGeNET Detail
Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japanese woman with Budd-... DisGeNET Detail
Because 6 out of 2,430 control individuals with no medical history of venous thrombosis, stroke, or ... DisGeNET Detail
We present here a 56-year-old woman with PV harboring a JAK2(V617F) mutation that had a diffuse reti... DisGeNET Detail
The specificity of a JAK2 V617F PCR test for the diagnosis of MPD is high (near 100%), but only half... DisGeNET Detail
Frequency and clinical features of the JAK2 V617F mutation in pediatric patients with sporadic essen... DisGeNET Detail
A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden... DisGeNET Detail
We report two cases of patient with portal vein thrombosis of unknown origin in whom the presence of... DisGeNET Detail
There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated all... DisGeNET Detail
In bone marrow reconstitution models based on retroviral transduction, the phenotype induced by JAK2... DisGeNET Detail
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disor... DisGeNET Detail
V617F JAK-2 mutation in patients with essential thrombocythemia: relation to platelet, granulocyte, ... DisGeNET Detail
Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, i... DisGeNET Detail
However, several unanswered questions regarding the essential role of JAK2(V617F) arose as 1) it is ... DisGeNET Detail
A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myelopro... DisGeNET Detail
We previously showed that JAK2 V617F is also found in coronary patients, most of them affected by co... DisGeNET Detail
V617F JAK2 mutation is a reliable molecular marker of polycythemia vera (PV), potentially useful to ... DisGeNET Detail
Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, i... DisGeNET Detail
An acquired JAK2 V617F mutation is found in most patients with polycythemia vera (PV), and about hal... DisGeNET Detail
The discovery of the Janus kinase 2 (JAK2) V617F mutation has improved our understanding of the path... DisGeNET Detail
The JAK2 V617F somatic mutation is present in the majority of patients with myeloproliferative cance... DisGeNET Detail
Occurrence of the JAK2 V617F mutation in patients with peripheral arterial disease. DisGeNET Detail
Polycythemia vera (PV) is characterized by erythrocytosis associated with the presence of the activa... DisGeNET Detail
Megakaryocytes are homozygous in the majority of fibrotic CIMF and PV, whereas JAK2(V617F) heterozyg... DisGeNET Detail
An acquired V617F mutation in JAK2 occurs in most patients with polycythaemia vera, but is seen in o... DisGeNET Detail
However, compared with their heterozygote counterparts, JAK2(V617F) homozygote patients displayed a ... DisGeNET Detail
The role of screening for the JAK2 V617F mutation in patients presenting with thrombosis without ove... DisGeNET Detail
In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to de... DisGeNET Detail
In this group, 4 out of 7 of the patients with PVT carried the JAK2 V617F mutation with or without o... DisGeNET Detail
We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50... DisGeNET Detail
Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in t... DisGeNET Detail
The JAK2 V617F mutation per se but not the mutational load in patients with ET is associated with a ... DisGeNET Detail
Calreticulin mutations (CALR(MUT)) are found in a significant proportion of patients with essential ... DisGeNET Detail
In conclusion, a JAK2 (V617F) allele burden &gt;50% represents a risk factor for progression to MF i... DisGeNET Detail
In conclusion, a JAK2 (V617F) allele burden &gt;50% represents a risk factor for progression to MF i... DisGeNET Detail
The assay characteristics and our initial evaluation indicate this method can be used for the detect... DisGeNET Detail
A JAK2(V617F) mutation is frequently found in several BCR/ABL-negative myeloproliferative disorders. DisGeNET Detail
JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET ... DisGeNET Detail
This phenotype is quite different from that observed in polycythemia vera (PV) caused by JAK2 V617F,... DisGeNET Detail
Two JAK2 V617F positive patients showed baseline platelet counts indicative for ET and a third patie... DisGeNET Detail
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disor... DisGeNET Detail
The combination of ARMS-PCR and capillary electrophoresis enables quantitative assay of JAK2 V617F m... DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
The activating mutation JAK2 V617F plays a central role in the pathogenesis of polycythemia vera, es... DisGeNET Detail
Early screening of suspected PV patients for JAK2(V617F) rapidly identifies nearly all those with PV... DisGeNET Detail
CD34(+) cell JAK2(V617F) clonal dominance, defined as coherence between the CD34(+) cell and neutrop... DisGeNET Detail
A novel zebrafish jak2a(V581F) model shared features of human JAK2(V617F) polycythemia vera. DisGeNET Detail
JAK2(V617F) is detected in other myeloproliferative neoplasms, does not appear to be the PV-initiati... DisGeNET Detail
Of the 17 individuals with ET, six (35%) had the JAK2 V617F mutation and one (6%) was found to have ... DisGeNET Detail
A point mutation in the Janus tyrosine kinase 2 (JAK2) gene has been described in patients with chro... DisGeNET Detail
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which f... DisGeNET Detail
The acquired JAK2 V617F mutation is common in patients with myeloproliferative neoplasms. DisGeNET Detail
Future work should focus on determining the molecular mechanisms other than V617F mutation of Jak2 r... DisGeNET Detail
In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm ... DisGeNET Detail
The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients... DisGeNET Detail
JAK2(V617F) was identified in patients previously diagnosed with a myeloproliferative disorder or ac... DisGeNET Detail
Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm... DisGeNET Detail
Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycyth... DisGeNET Detail
Half of PVSG/WHO-defined ET patients show low serum erythropoietin levels and carry the JAK2(V617F) ... DisGeNET Detail
Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), ... DisGeNET Detail
A kidney biopsy showed focal segmental glomerulosclerosis (FSGS) with interstitial neutrophil infilt... DisGeNET Detail
Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: identif... DisGeNET Detail
The V617F mutation in the JAK2 gene on chromosome 9p24.1 was identified recently in peripheral blood... DisGeNET Detail
Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogenic JAK2 mutants, as w... DisGeNET Detail
The diagnosis of a myeloproliferative disease could be corroborated by demonstration of the V617F mu... DisGeNET Detail
The V617F JAK2 mutation and the myeloproliferative disorders. DisGeNET Detail
A recent novel mutation in the Janus activated kinase 2 gene involving a gain-of-function substitute... DisGeNET Detail
JAK2-V617F mutation in Moroccan patients with myeloproliferative disorders: contribution, diagnosis ... DisGeNET Detail
TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 p... DisGeNET Detail
In conclusion, constitutive heterozygous expression of JAK2(V617F) in mice is not embryo-lethal but ... DisGeNET Detail
Continued research into how miRNAs impact JAK2(V617F) clonal expansion, differential haematopoiesis ... DisGeNET Detail
CD34(+) cell JAK2(V617F) clonal dominance, defined as coherence between the CD34(+) cell and neutrop... DisGeNET Detail
The nature of the specific oncogenic mutation(s) is currently being unraveled with the recent discov... DisGeNET Detail
Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation. DisGeNET Detail
Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 ... DisGeNET Detail
JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the los... DisGeNET Detail
The presence of JAK2(V617F) mutation should be considered per se a prothrombotic state for cerebral,... DisGeNET Detail
DNA from 161 samples was isolated from peripheral blood granulocytes and formalin-fixed bone marrow ... DisGeNET Detail
Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable diagnoses, a JAK2(V6... DisGeNET Detail
These changes and the resultant clinical research are discussed in this article where we argue that ... DisGeNET Detail
Clinically suspected PV with low serum erythropoietin and absent JAK2(V617F), together with the bone... DisGeNET Detail
Novel treatment strategies are under investigation, including targeted inhibition of JAK2(V617F), th... DisGeNET Detail
In polycythemia vera, JAK2 (V617F) was detected in 23 of 25 subjects at diagnosis and in 16 of 16 pa... DisGeNET Detail
JAK2 V617F positivity in patients with ET was associated with a clear increase in the odds of thromb... DisGeNET Detail
A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 ... DisGeNET Detail
Prevalence of JAK2 V617F mutation in Indian patients with chronic myeloproliferative disorders. DisGeNET Detail
Megakaryocytes are homozygous in the majority of fibrotic CIMF and PV, whereas JAK2(V617F) heterozyg... DisGeNET Detail
JAK2 V617F mutation was found to be positive in 100% of polycythemia vera cases, 68.29% of essential... DisGeNET Detail
A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 ... DisGeNET Detail
This study is the largest hitherto carried out in this setting and shows that the rate of major CV e... DisGeNET Detail
Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linked to myelofibrosis d... DisGeNET Detail
In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to de... DisGeNET Detail
Molecular genetic assays for the detection of the JAK2 V617F (c.1849G&gt;T) and other pathogenetic m... DisGeNET Detail
The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemi... DisGeNET Detail
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which f... DisGeNET Detail
Development and inter-laboratory validation of unlabeled probe melting curve analysis for detection ... DisGeNET Detail
Open-label study of oral CEP-701 (lestaurtinib) in patients with polycythaemia vera or essential thr... DisGeNET Detail
the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that chara... DisGeNET Detail
Peripheral blood mutation screening for JAK2 V617F can be incorporated into the initial work up of p... DisGeNET Detail
The results of the current clinical study support previous laboratory observations that link JAK2(V6... DisGeNET Detail
Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myelopro... DisGeNET Detail
Questions remain regarding the exact contribution of JAK2(V617F) in other myeloproliferative disorde... DisGeNET Detail
Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele... DisGeNET Detail
A general theme is that JAK2 V617F is variably associated with thrombosis and, more consistently, as... DisGeNET Detail
These data suggest that the JAK2(V617F) mutation plays an important role in the biology of PV, yet i... DisGeNET Detail
Although JAK2(V617F) transcript levels did not decrease upon exposure to dasatinib, the drug might s... DisGeNET Detail
Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the presence and the muta... DisGeNET Detail
The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients... DisGeNET Detail
Recently, the JAK2(V617F) mutation was found in patients with myeloproliferative disorders (MPDs), i... DisGeNET Detail
Conventional diagnostic criteria for myeloproliferative disorders and the JAK2 V617F mutation (which... DisGeNET Detail
Early relapse of JAK2 V617F-positive chronic neutrophilic leukemia with central nervous system infil... DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV an... DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
In conclusion, JAK2(V617F) is a myeloid lineage-specific event, its incidence in MMM is significantl... DisGeNET Detail
Patients with cerebral venous thrombosis can carry the JAK2 V617F mutation, irrespective of blood co... DisGeNET Detail
Reliable detection of the JAK2 V617F mutation is a major criterion in the diagnosis of BCR/ABL-negat... DisGeNET Detail
JAK2 V617F mutation frequency in our PMF patients was greater than in previous reports. DisGeNET Detail
88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PMF were positive for ... DisGeNET Detail
However, it is very clear that some patients with classical PV lack the JAK2 V617F mutation, while s... DisGeNET Detail
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disor... DisGeNET Detail
The 2005 JAK2 V617F discovery and the 2008 WHO diagnostic guideline for the JAK2 V617F mutation coin... DisGeNET Detail
Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EB... DisGeNET Detail
HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: cli... DisGeNET Detail
The transformation of MPNs into acute leukemia is by itself a very rare phenomenon, and so is the pe... DisGeNET Detail
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... DisGeNET Detail
JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation ... DisGeNET Detail
JAK2 V617F mutation in essential thrombocythemia: correlation with clinical characteristics, respons... DisGeNET Detail
Absence of the V617F JAK2 mutation in the lymphoid compartment in a patient with essential thrombocy... DisGeNET Detail
Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated by the presence of ... DisGeNET Detail
The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% for ET, 80% for myel... DisGeNET Detail
The V617F activating point mutation in Jak2 has recently been associated with myeloproliferative dis... DisGeNET Detail
JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause... DisGeNET Detail
Treatment with atiprimod, a potent JAK2 inhibitor, caused marked growth inhibition and apoptosis of ... DisGeNET Detail
We report two cases of patient with portal vein thrombosis of unknown origin in whom the presence of... DisGeNET Detail
The somatic activating janus kinase 2 mutation (JAK2)(V617F) is detectable in most patients with pol... DisGeNET Detail
In order to explore the correlation between these two biological markers and compare their diagnosti... DisGeNET Detail
These data suggest that erythrocytosis and granulocytosis in JAK2(V617F) mice are the net result of ... DisGeNET Detail
Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the... DisGeNET Detail
Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a sing... DisGeNET Detail
Multiple iPS cell lines were also generated from peripheral blood CD34(+) cells of 2 patients with m... DisGeNET Detail
Molecular genetic assays for the detection of the JAK2 V617F (c.1849G&gt;T) and other pathogenetic m... DisGeNET Detail
These data indicate that loss of wild-type clones at the progenitor level is a feature of MF (primar... DisGeNET Detail
Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linked to myelofibrosis d... DisGeNET Detail
The recent discovery of mutations within the CALR gene in up to 80% of JAK2 V617F-negative ET and PM... DisGeNET Detail
The gain-of-function JAK2 V617F mutation shifts the phenotype of essential thrombocythemia and chron... DisGeNET Detail
The JAK2 V617F mutation has been detected in patients with classical myeloproliferative disorders (M... DisGeNET Detail
In essential thrombocythemia, 154 (53%) Janus kinase 2 V617F, 96 (33%) calreticulin, 9 (3%) myelopro... DisGeNET Detail
Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in t... DisGeNET Detail
The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloprolifer... DisGeNET Detail
Recently, the JAK2 V617F mutation has been reported in high proportions of chronic myeloproliferativ... DisGeNET Detail
Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, i... DisGeNET Detail
Higher levels of JAK2-V617F in mouse bone marrow by retroviral transduction caused a PV-like phenoty... DisGeNET Detail
JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also pro... DisGeNET Detail
JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia. DisGeNET Detail
Different involvement of the megakaryocytic lineage by the JAK2 V617F mutation in Polycythemia vera,... DisGeNET Detail
The screening for JAK2 V617F mutation in patients with polycythemia vera, essential thrombocythemia,... DisGeNET Detail
LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17,... DisGeNET Detail
The JAK2 V617F mutation in children with PV was significantly less frequent than in adult PV. DisGeNET Detail
Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F mutation: report of... DisGeNET Detail
Although thrombocytosis was only intermittent, analysis of the Janus kinase 2 (JAK2) gene revealed a... DisGeNET Detail
BMS-911543 is a JAK2-selective inhibitor that induces apoptosis in JAK2-dependent cell lines and inh... DisGeNET Detail
High prevalence of arterial thrombosis in JAK2 mutated essential thrombocythaemia: independence of t... DisGeNET Detail
Mesenteric venous thrombosis secondary to an unsuspected JAK2 V617F-positive myeloproliferative diso... DisGeNET Detail
The V617F mutation of JAK2 is the key molecular event in 90% of polycythaemia vera (PV), 50% of esse... DisGeNET Detail
In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MP... DisGeNET Detail
A sensitive assay for the JAK2 V617F mutation has the potential to diagnose atypical MPDs in multipl... DisGeNET Detail
the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that chara... DisGeNET Detail
Bone marrow phospho-STAT5 expression in non-CML chronic myeloproliferative disorders correlates with... DisGeNET Detail
Increased PRV-1 mRNA expression and the presence of Jak2(V617F) mutation in peripheral blood granulo... DisGeNET Detail
The discovery of JAK2 V617F mutation has shed light on understanding of the molecular pathways invol... DisGeNET Detail
JAK2(V617F) mutation was significantly more common in MPD patients (76%) than in non-MPD hematologic... DisGeNET Detail
Disease burden at the progenitor level is a feature of primary myelofibrosis: a multivariable analys... DisGeNET Detail
This report describes the first case of myeloid sarcoma with JAK2 V617F mutation and implication of ... DisGeNET Detail
MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F ... DisGeNET Detail
These standards were used in two JAK2 p.V617F assays, which were used to support clinical studies of... DisGeNET Detail
Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negat... DisGeNET Detail
JAK2 V617F mutation was detected after transformation to CMML in 1 of them; in the other, a novel tr... DisGeNET Detail
It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia v... DisGeNET Detail
An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autos... DisGeNET Detail
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which f... DisGeNET Detail
Janus kinase 2 (JAK2) V617F mutation testing has revolutionized the classification of myeloprolifera... DisGeNET Detail
The JAK2 V617F mutational status and allele burden may be related with the risk of venous thromboemb... DisGeNET Detail
Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the presence and the muta... DisGeNET Detail
The search of the V617F mutation of the Janus Kinase 2 gene has to be performed in all cases of port... DisGeNET Detail
We conclude that JAK2 V617F mutation is uncommon in the 3q21q26 syndrome and that its presence may i... DisGeNET Detail
Limited efficacy of BMS-911543 in a murine model of Janus kinase 2 V617F myeloproliferative neoplasm... DisGeNET Detail
This work demonstrates that JAK2(V617F) is sufficient for polycythemia and fibrosis development and ... DisGeNET Detail
TET2 defects were present in hematopoietic stem cells and preceded the JAK2 V617F mutation in the fi... DisGeNET Detail
Our results seem to confirm that CLL cases are negative for JAK2(V617F) mutation in B- and T-lymphoc... DisGeNET Detail
Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogenic JAK2 mutants, as w... DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from polycythemia vera. DisGeNET Detail
Clinically suspected PV with low serum erythropoietin and absent JAK2(V617F), together with the bone... DisGeNET Detail
JAK2(V617F), the main mutation involved in MPN, is considered as a risk factor for thrombosis, altho... DisGeNET Detail
Most patients with polycythemia vera and half with idiopathic myelofibrosis and essential thrombocyt... DisGeNET Detail
The molecular response rate was 38% in ET and 54% in PV, being complete (undetectable JAK2(V617F)) i... DisGeNET Detail
In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm ... DisGeNET Detail
Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a sing... DisGeNET Detail
We showed that in vitro the concomitant presence of JAK2(V617F) and TET2 mutations favors clonal pol... DisGeNET Detail
Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPN... DisGeNET Detail
The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JA... DisGeNET Detail
The MPNs include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50... DisGeNET Detail
The JAK2 V617F point mutation was found in 3 patients with extrahepatic portal vein thrombosis who h... DisGeNET Detail
We report two cases of ET with Jak 2 V617F in Zap-70+ CLL. DisGeNET Detail
JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from polycythemia vera. DisGeNET Detail
The V617F mutation in the JAK2 non-receptor tyrosine kinase (JAK2V617F) is present as an early somat... DisGeNET Detail
Although the JAK2(V617F) mutation plays an important role in the biologic origins of PV, it is likel... DisGeNET Detail
However, until the recent description of the constitutively activating V617F point mutation of the J... DisGeNET Detail
Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, poly... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
The discovery of the highly prevalent activating JAK (Janus kinase) 2 V617F mutation in myeloprolife... DisGeNET Detail
In a second patient positive for JAK2-V617F at transformation, but with JAK2-V617F-negative leukemic... DisGeNET Detail
Activating mutation (V617F) in the tyrosine kinase JAK2 is absent in locally-confined or castration-... DisGeNET Detail
We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F)... DisGeNET Detail
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which f... DisGeNET Detail
The most consistent relationship was that between PV and the JAK2 V617F mutation (p=0.08). DisGeNET Detail
All idiopathic IAVT patients must be screened for JAK2(V617F) mutation to detect latent MPD. DisGeNET Detail
Strikingly, the JAK2(V617F) mutation is found in nearly all patients suffering from polycythemia ver... DisGeNET Detail
The results indicate that JAK2(V617F) mutation is associated with clinical and morphological feature... DisGeNET Detail
Mesenteric venous thrombosis secondary to an unsuspected JAK2 V617F-positive myeloproliferative diso... DisGeNET Detail
The JAK2(V617F) mutant allele burden contributes to determining the clinical phenotype in patients w... DisGeNET Detail
Frequent detection of the JAK2 V617F mutation in bone marrow core biopsy specimens from chronic myel... DisGeNET Detail
Thus, JAK2 V617F mutant must be able to interact via its intact FERM-SH2 domains with the cytosolic ... DisGeNET Detail
However, JAK2 inhibitors have limited ability to reduce JAK2 V617F allele burden or bone marrow fibr... DisGeNET Detail
The JAK2 V617F mutation is associated with platelet activation, as measured by elevated sP-selectin ... DisGeNET Detail
Future work should focus on determining the molecular mechanisms other than V617F mutation of Jak2 r... DisGeNET Detail
Megakaryopoiesis and platelet function in polycythemia vera and essential thrombocythemia patients w... DisGeNET Detail
We also verified the effect of the same drugs in colony assays of freshly isolated Jak2(V617F) polyc... DisGeNET Detail
JAK2 V617F was found in 38 (64%) of ET cases, 7 (39%) of CIMF cases, and 9 (100%) of PV cases. DisGeNET Detail
In 4 previously reported patients with JAK2(V617F)-positive Ph(-) MPN and B-CLL there was no definit... DisGeNET Detail
JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P = 2 × 10(-5) ), thr... DisGeNET Detail
A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycytha... DisGeNET Detail
A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent m... DisGeNET Detail
In addition, it provides evidence that despite the fact that angiogenesis is generally independent o... DisGeNET Detail
The JAK2-V617F mutation significantly correlated with higher leukocyte count and alkaline phosphatas... DisGeNET Detail
88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PMF were positive for ... DisGeNET Detail
The JAK2-V617F mutation was observed in three lineages of granulocytes, platelets, and BFU-E in almo... DisGeNET Detail
JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I. DisGeNET Detail
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... DisGeNET Detail
An acquired mutation in Janus kinase 2 (JAK2), V617F, has recently been identified in human myelopro... DisGeNET Detail
We aimed to determine the relative sensitivity of four separate molecular assays used to detect the ... DisGeNET Detail
JAK2 V617F-positive latent essential thrombocythemia and splanchnic vein thrombosis: the role of bon... DisGeNET Detail
As expected, WP1066 inhibited the proliferation of peripheral blood hematopoietic progenitors of pat... DisGeNET Detail
Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a sing... DisGeNET Detail
These findings suggest that MPL mutation screening should be performed before JAK2 exons 12 to 14 te... DisGeNET Detail
The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the d... DisGeNET Detail
JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IG... DisGeNET Detail
Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linked to myelofibrosis d... DisGeNET Detail
Dysregulated signaling is a hallmark of chronic myeloproliferative neoplasms (MPNs), as evidenced by... DisGeNET Detail
Modulation of JAK2 V617F allele burden dynamics by hydroxycarbamide in polycythaemia vera and essent... DisGeNET Detail
The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3... DisGeNET Detail
Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycyth... DisGeNET Detail
In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can... DisGeNET Detail
Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is assoc... DisGeNET Detail
We used the thrombin generation assay to evaluate the hypercoagulable state according to JAK2(V617F)... DisGeNET Detail
The present data suggests the JAK2 V617F allele burden as a key determinant of the degree of myelopr... DisGeNET Detail
In order to explore the correlation between these two biological markers and compare their diagnosti... DisGeNET Detail
Is JAK2 V617F mutation more than a diagnostic index? A meta-analysis of clinical outcomes in essenti... DisGeNET Detail
Recently several different JAK2 exon12 mutations have been identified in V617F negative polycythaemi... DisGeNET Detail
Since the description of the JAK2-V617F mutation and its finding in patients with splanchnic vein th... DisGeNET Detail
Although it is in vogue to consider essential thrombocythemia as more than one disease in terms of b... DisGeNET Detail
JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the los... DisGeNET Detail
Treating low-risk essential thrombocythemia and polycythemia vera patients presenting with leukocyto... DisGeNET Detail
Quantitative determination of JAK2 V617F by TaqMan: An absolute measure of averaged copies per cell ... DisGeNET Detail
JAK2 V617F-positive essential thrombocythemia in a patient with Klinefelter syndrome: a case report. DisGeNET Detail
His postoperative management included the examination of his peripheral blood as well as bone marrow... DisGeNET Detail
Long term treatment with IFN2b is able to induce 'minimal residual disease' with very low JAK2 V617F... DisGeNET Detail
The prevalence of overt MPN and that of JAK2 V617F were lower in Korean patients with SVT than in pr... DisGeNET Detail
Among the patients with myelofibrosis, those with ASXL1 lesions were not distinguished from their wi... DisGeNET Detail
Discordant distribution of the JAK2 (V617F) mutation was observed in siblings with polycythemia vera... DisGeNET Detail
A study of JAK2 (V617F) gene mutation in patients with chronic myeloproliferative disorders. DisGeNET Detail
To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis of the 3q21q26 synd... DisGeNET Detail
The production of JAK2 wild-type platelets is not downregulated in patients with JAK2 V617F mutant-p... DisGeNET Detail
We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patien... DisGeNET Detail
Establishing optimal quantitative-polymerase chain reaction assays for routine diagnosis and trackin... DisGeNET Detail
Interestingly, a significant correlation between MYC and hTERT expression could only be established ... DisGeNET Detail
The JAK2 V617F mutation can be found in patients with polycythemia vera, essential thrombocythemia a... DisGeNET Detail
In an MPD with t(9;12)(q13 approximately q21;q22) and JAK2 V617F mutation, array comparative genomic... DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
JAK2 germline genetic variation affects disease susceptibility in primary myelofibrosis regardless o... DisGeNET Detail
Different numbers of cell lineages harboring the JAK2-V617F mutation were found, being the lowest in... DisGeNET Detail
Molecular genetic assays for the detection of the JAK2 V617F (c.1849G&gt;T) and other pathogenetic m... DisGeNET Detail
Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), ... DisGeNET Detail
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK... DisGeNET Detail
Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with r... DisGeNET Detail
As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive patients had PV-like ... DisGeNET Detail
Overall, the incidence of the JAK2 V617F mutation was 87% in PV, 67% in ET, and 66% in CIM. DisGeNET Detail
A somatic point mutation (V617F) in the JAK2 tyrosine kinase was found in a majority of patients wit... DisGeNET Detail
Since the V617F mutation in JAK2 may not be the initiating event in myeloprofilerative disorders (MP... DisGeNET Detail
In the test of blind screening of 223 samples (111 Ph- MPNs, 60 Ph+ chronic myeloid leukemia, and 52... DisGeNET Detail
When present in a heterozygous state the JAK2-V617F mutation preferentially stimulates megakaryopoie... DisGeNET Detail
The discovery of the Janus kinase 2 Val617Phe mutation has brought new insights into the development... DisGeNET Detail
Polycythemia vera is a clonal hematopoietic stem cell disorder in which the JAK2 V617F mutation is o... DisGeNET Detail
Tyk2 mutation homologous to V617F Jak2 is not found in essential thrombocythaemia, although it induc... DisGeNET Detail
We conclude that in vivo expression of JAK2 V617F results in ET-, PMF- and PV-like disease. DisGeNET Detail
The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera... DisGeNET Detail
The current findings indicated that the JAK2 (V617F) mutation represents an acquired somatic mutatio... DisGeNET Detail
This indicates that JAK2 V617-positive ET patients, diagnosed according to the PVSG criteria, repres... DisGeNET Detail
The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemi... DisGeNET Detail
The discovery that many patients with polycythemia vera, essential thrombocythemia, and primary myel... DisGeNET Detail
A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myelopro... DisGeNET Detail
Present findings suggest that, in patients presenting with SVT, the JAK2 V617F mutation is frequentl... DisGeNET Detail
A new potential oncogenic mutation in the FERM domain of JAK2 in BCR/ABL1-negative and V617F-negativ... DisGeNET Detail
A refined diagnostic algorithm for polycythemia vera that incorporates mutation screening for JAK2(V... DisGeNET Detail
Relationship between clotting activity and phosphatidylserine expression on erythrocyte membranes in... DisGeNET Detail
The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both atypical myeloprol... DisGeNET Detail
Determination of the JAK2 V617F mutation may contribute to the search for genetic determinants of PM... DisGeNET Detail
Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japanese woman with Budd-... DisGeNET Detail
After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying th... DisGeNET Detail
Individuals harboring JAK2 V617F mutation, regardless of MPN type, were at higher risk of VTE (OR=5.... DisGeNET Detail
The Janus Kinase 2 (JAK2) V617F mutation in hematological malignancies in México. DisGeNET Detail
JAK2(WT) progenitors were present in ET and PV when the CD34(+) JAK2(V617F) allele burden was lower ... DisGeNET Detail
The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia... DisGeNET Detail
Modulation of JAK2 V617F allele burden dynamics by hydroxycarbamide in polycythaemia vera and essent... DisGeNET Detail
Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor cells from patients wi... DisGeNET Detail
Polycythemia vera (PV) is a chronic myeloproliferative neoplasm associated with JAK2 mutations (V617... DisGeNET Detail
Different numbers of cell lineages harboring the JAK2-V617F mutation were found, being the lowest in... DisGeNET Detail
A JAK2 (V617F) gene dosage effect on both CD34(+) cell counts and granulocyte activation was clearly... DisGeNET Detail
The aim of the present study was to assess the dynamics of the JAK2 V617F allele burden during long-... DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
The JAK2 V617F mutation is responsible for the constitutive activation of the erythropoietin recepto... DisGeNET Detail
The role of serum erythropoietin level and JAK2 V617F allele burden in the diagnosis of polycythaemi... DisGeNET Detail
Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor B... DisGeNET Detail
In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MP... DisGeNET Detail
Eleven JAK2(V617F) mutated patients developed 13 deep splanchnic thromboses in PV and ET. DisGeNET Detail
Third, the slowly progressive myeloid (granulocytic) metaplasia in bone marrow and spleen is complic... DisGeNET Detail
STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associat... DisGeNET Detail
A somatic point mutation (V617F) in the JAK2 tyrosine kinase was found in a majority of patients wit... DisGeNET Detail
Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor B... DisGeNET Detail
PMF with different stages of myelofibrosis all yielded similar JAK2(V617F) allele burden. DisGeNET Detail
Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of... DisGeNET Detail
The classical Philadelphia chromosome-negative myeloproliferative neoplasms consist of three main pa... DisGeNET Detail
Our understanding of the genetic basis of myeloproliferative neoplasms began in 2005, when the JAK2 ... DisGeNET Detail
Such HLA-G5-mediated inhibition constitutes a new parameter to be considered in the design of future... DisGeNET Detail
He was diagnosed with essential thrombocythemia after he tested positive for the JAK2 V617F mutation... DisGeNET Detail
Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a sing... DisGeNET Detail
In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to de... DisGeNET Detail
Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), ... DisGeNET Detail
Similar inhibitory effects were found with the JAK2(V617F)-positive human erythroleukemia HEL cell l... DisGeNET Detail
Analysis of JAK2(V617F) mutation in Chinese patients with myeloproliferative disorders. DisGeNET Detail
These results support a role for platelet turnover, factor V, and aAPCR in the thrombosis of ET as w... DisGeNET Detail
Absence of the V617F JAK2 mutation in the lymphoid compartment in a patient with essential thrombocy... DisGeNET Detail
Occurrence of the JAK2 V617F mutation in patients with peripheral arterial disease. DisGeNET Detail
High prevalence of arterial thrombosis in JAK2 mutated essential thrombocythaemia: independence of t... DisGeNET Detail
Identification of the JAK2 V617F mutation in chronic myeloproliferative disorders using FRET probes ... DisGeNET Detail
The frequency of JAK2 V617F mutation is about 90% in patients with PV, 50-60% in patients with essen... DisGeNET Detail
We investigated the activity of ITF2357, a novel histone deacetylase inhibitor (HDACi) with antitumo... DisGeNET Detail
The JAK2 c.1849G&gt;T (p.V617F) mutation leads to constitutive activation of Janus kinase (JAK)2 and... DisGeNET Detail
JAK2 V617F mutation is associated with 5q- syndrome in Chinese. DisGeNET Detail
Finally, we show that IL-27R can functionally replace a homodimeric type I cytokine receptor in the ... DisGeNET Detail
Because of the clinical importance of this mutation in diagnosing myeloproliferative disorders and i... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
The screening for JAK2 V617F mutation in patients with polycythemia vera, essential thrombocythemia,... DisGeNET Detail
The JAK2 V617F mutational status and its allele burden correlate with the clinicohematologic phenoty... DisGeNET Detail
A somatic mutation (V617F) resulting in enhanced JAK2 kinase activity can be frequently found in pat... DisGeNET Detail
The JAK2 V617F mutation involves B- and T-lymphocyte lineages in a subgroup of patients with Philade... DisGeNET Detail
We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50... DisGeNET Detail
The identification of Jak2(V617F) mutations in more than 90% of patients with polycythemia vera (PV)... DisGeNET Detail
Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated by the presence of ... DisGeNET Detail
We report here that JAK2(V617F)-associated disease is strongly associated with a specific constituti... DisGeNET Detail
Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential thrombocythemia and po... DisGeNET Detail
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... DisGeNET Detail
There was a trend towards an association between SOCS3 methylation and lower SOCS3 expression in JAK... DisGeNET Detail
Laboratory testing for the presence of the V617F mutation in JAK2 has taken on great importance in t... DisGeNET Detail
JAK2 V617F mutation was found to be positive in 100% of polycythemia vera cases, 68.29% of essential... DisGeNET Detail
Somatic mutations were detected in 33 of 221 patients (15%) with JAK2 (V617F)-negative essential thr... DisGeNET Detail
The aim of this study was to describe the prevalence of main hereditary thrombophilias, Janus kinase... DisGeNET Detail
We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acu... DisGeNET Detail
The V617F JAK2 mutation incidence in polycythemia vera, essential thrombocythemia and idiopathic mye... DisGeNET Detail
Increased risk of recurrent thrombosis in patients with essential thrombocythemia carrying the homoz... DisGeNET Detail
The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative... DisGeNET Detail
The data suggest that the JAK2(V617F) mutation is apparently much more common than MPDs. DisGeNET Detail
JAK2 V617F was detected in 31 of 51 patients (60.8%) with essential thrombocythemia, all 16 patients... DisGeNET Detail
Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPN... DisGeNET Detail
Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patie... DisGeNET Detail
Impact of JAK2(V617F) mutation status on treatment response to anagrelide in essential thrombocythem... DisGeNET Detail
Two CML patients who subsequently developed features of essential thrombocythemia with JAK2-V617F mu... DisGeNET Detail
These results show the presence in PV erythroblasts of proliferative and antiapoptotic signals that ... DisGeNET Detail
The prevalence of homozygous JAK2-V617F mutation in RARS-T suggests that this entity is biologically... DisGeNET Detail
Specifically, five derivative compounds of G6 having structural similarity to the original lead comp... DisGeNET Detail
Recent information regarding disease pathogenesis, including a contribution to the myeloproliferativ... DisGeNET Detail
JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustere... DisGeNET Detail
The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... DisGeNET Detail
Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 w... DisGeNET Detail
Risk of thrombosis in patients with essential thrombocythemia and polycythemia vera according to JAK... DisGeNET Detail
the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that chara... DisGeNET Detail
We conclude that in vivo expression of JAK2 V617F results in ET-, PMF- and PV-like disease. DisGeNET Detail
In patients with CMD, the multivariate generalized linear regression model showed that the JAK2 (V61... DisGeNET Detail
Our studies correlating the frequency of JAK2(V617F) mutant allele and clonality, as well as the pre... DisGeNET Detail
Approximately 96% of patients with polycythemia vera (PV) harbors the V617F mutation in JAK2 exon 14... DisGeNET Detail
The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and myelofibrosis in acrom... DisGeNET Detail
Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm... DisGeNET Detail
No evidence for the JAK2 (V617F) or JAK2 exon 12 mutations in primary mediastinal large B-cell lymph... DisGeNET Detail
The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF). DisGeNET Detail
JAK2 V617F was detected in 140 samples (66 PV, 45 ET and 29 PMF). DisGeNET Detail
More recently, we demonstrated that constitutive phosphorylation of Lu/BCAM is also involved in abno... DisGeNET Detail
In order to explore the correlation between these two biological markers and compare their diagnosti... DisGeNET Detail
The recently described JAK2 V617F mutation, present in a substantial proportion of nonchronic myelog... DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
We investigated this question using conditional JAK2(V617F) knock-in mice with constitutive and indu... DisGeNET Detail
The positive rate of JAK2 V617F in polycythaemia vera (PV), essential thrombocythaemia (ET) and prim... DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm progression. DisGeNET Detail
Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of th... DisGeNET Detail
Therefore, by necessity, any discussion of PV must take into consideration these companion myeloprol... DisGeNET Detail
The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include ess... DisGeNET Detail
Because of the clinical importance of this mutation (JAK2 V617F) in diagnosing myeloproliferative di... DisGeNET Detail
In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can... DisGeNET Detail
The presence of JAK2 V617F mutation is a cause of primary thrombocythemia and myelofibrosis in acrom... DisGeNET Detail
Depending on the biological background of individual patients, heterozygous and homozygous JAK2 V617... DisGeNET Detail
Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progenitor in polycythemia ... DisGeNET Detail
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... DisGeNET Detail
Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polyc... DisGeNET Detail
The positive rate of JAK2 V617F in polycythaemia vera (PV), essential thrombocythaemia (ET) and prim... DisGeNET Detail
The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JA... DisGeNET Detail
JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET ... DisGeNET Detail
The activating mutation of JAK2, V617F, has been found as a frequent mutation in myeloproliferative ... DisGeNET Detail
Finally, the JAK2-V617F load did not influence serum apolipoprotein A-1 levels in ET, a previously v... DisGeNET Detail
The aim of this study was to describe the prevalence of main hereditary thrombophilias, Janus kinase... DisGeNET Detail
The modulation of JAK2 V617F allele burden dynamics was prospectively analysed in 47 patients (26 po... DisGeNET Detail
This study is the largest hitherto carried out in this setting and shows that the rate of major CV e... DisGeNET Detail
However it is not so easy, because iPSCs from hematological malignancies have been established only ... DisGeNET Detail
A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2... DisGeNET Detail
Incidence of the JAK2 V617F mutation among patients with splanchnic or cerebral venous thrombosis an... DisGeNET Detail
Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative neoplasm (MPN) patie... DisGeNET Detail
JAK2 V617F mutation was detected after transformation to CMML in 1 of them; in the other, a novel tr... DisGeNET Detail
These findings suggest that MPL mutation screening should be performed before JAK2 exons 12 to 14 te... DisGeNET Detail
Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polyc... DisGeNET Detail
We report a case of a 62-year-old black man with progressive abdominal swelling and features of deco... DisGeNET Detail
The results of the current clinical study support previous laboratory observations that link JAK2(V6... DisGeNET Detail
Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of th... DisGeNET Detail
Fli-1 mRNA expression was significantly higher in Essential thrombocythaemia (ET) with JAK2 (V617F) ... DisGeNET Detail
Recently, a unique and clonal mutation in the JAK homology 2 (JH2) domain of JAK2 that results in a ... DisGeNET Detail
To perform a multivariate analysis by Cox proportional hazard model of the impact of JAK2 V617F muta... DisGeNET Detail
These preliminary observations indicate that the Jak2(V617F) mutation in particular and PRV-1 overex... DisGeNET Detail
The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloprolifer... DisGeNET Detail
Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphory... DisGeNET Detail
Recently, it has become clear that patients meeting WHO criteria for RARS-T have clonal JAK2(V617F) ... DisGeNET Detail
JAK2 V617F mutation testing in polycythemia vera: use and impact in an academic practice. DisGeNET Detail
We conclude that the extent of JAK2(V617F) CD34(+) cell clonal dominance is associated with disease ... DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
These results establish a role for JunB in normal erythropoiesis and indicate that JunB may play a m... DisGeNET Detail
JAK2(V617F) and leukemic transformation in myelofibrosis with myeloid metaplasia. DisGeNET Detail
In light of the findings from previous reports, screening for the JAK2-V617F mutation should be cons... DisGeNET Detail
Thus, targeting the pathway mediated by JAK and its downstream substrate, signal transducer and acti... DisGeNET Detail
A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm progression. DisGeNET Detail
Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EB... DisGeNET Detail
This study revealed that CALR mutant essential thrombocythemia is associated with younger age, highe... DisGeNET Detail
In addition, Bcr/Abl-negative classic myeloproliferative disorders are characterized by recurrent JA... DisGeNET Detail
We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c mice induces MPD remi... DisGeNET Detail
Lastly, JAK2 V617F mutant allele burden was found much higher in polycythemia vera (PV) patients [me... DisGeNET Detail
JAK2 V617F is a rare finding in de novo acute myeloid leukemia, but STAT3 activation is common and r... DisGeNET Detail
The prevalence of homozygous JAK2-V617F mutation in RARS-T suggests that this entity is biologically... DisGeNET Detail
JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the los... DisGeNET Detail
Recently, it has been shown that an activating mutation of JAK2 (V617F) was at the origin of PV. DisGeNET Detail
Specifically, five derivative compounds of G6 having structural similarity to the original lead comp... DisGeNET Detail
Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EB... DisGeNET Detail
We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50... DisGeNET Detail
After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying th... DisGeNET Detail
Association of V617F Jak2 mutation with the risk of thrombosis among patients with essential thrombo... DisGeNET Detail
JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also pro... DisGeNET Detail
Approximately half of the patients with ET harbor a gain-of-function mutation in the JAK2 gene (JAK2... DisGeNET Detail
Individuals harboring JAK2 V617F mutation, regardless of MPN type, were at higher risk of VTE (OR=5.... DisGeNET Detail
The nature of the specific oncogenic mutation(s) is currently being unraveled with the recent discov... DisGeNET Detail
The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), a... DisGeNET Detail
HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: cli... DisGeNET Detail
In this retrospective cohort study, patients with cerebral venous thrombosis were tested for the JAK... DisGeNET Detail
Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated by the presence of ... DisGeNET Detail
To determine the prevalence of JAK2 V617F mutation and its clinical correlation in patients with chr... DisGeNET Detail
Our results indicate that primary myelofibrosis JAK2 V617F and polycythemia vera JAK2 V617F share pa... DisGeNET Detail
the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that chara... DisGeNET Detail
We screened 79 acute myeloid leukemia (AML) cell lines and found five positive for JAK2 V617F (HEL, ... DisGeNET Detail
Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, poly... DisGeNET Detail
The JAK2 c.1849G&gt;T (p.V617F) mutation leads to constitutive activation of Janus kinase (JAK)2 and... DisGeNET Detail
Induction of the JAK2-V617F transgene with the interferon-inducible MxCre resulted in expression of ... DisGeNET Detail
Long-term serial analysis of X-chromosome inactivation patterns and JAK2 V617F mutant levels in pati... DisGeNET Detail
BMS-911543 is a JAK2-selective inhibitor that induces apoptosis in JAK2-dependent cell lines and inh... DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
The frequency of JAK2 V617F mutation is about 90% in patients with PV, 50-60% in patients with essen... DisGeNET Detail
Only the ZNF577 gene showed a differential methylation profile between PV JAK2 V617F positive and co... DisGeNET Detail
More recently, we demonstrated that constitutive phosphorylation of Lu/BCAM is also involved in abno... DisGeNET Detail
The JAK2 c.1849G&gt;T (p.V617F) mutation leads to constitutive activation of Janus kinase (JAK)2 and... DisGeNET Detail
JAK2 V617F mutation frequencies in our PV and ET patients were similar to those reported previously. DisGeNET Detail
The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JA... DisGeNET Detail
Refractory anemia with ringed sideroblasts and marked thrombocytosis (RARS-T) was recently shown to ... DisGeNET Detail
The JAK2(V617F) mutation was detected in 18 patients with ET and 38 patients with PV; sequential mea... DisGeNET Detail
At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were ... DisGeNET Detail
JAK2 V617F was detected in 31 of 51 patients (60.8%) with essential thrombocythemia, all 16 patients... DisGeNET Detail
Eleven JAK2(V617F) mutated patients developed 13 deep splanchnic thromboses in PV and ET. DisGeNET Detail
It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia v... DisGeNET Detail
MPD-specific markers such as serum EPO, endogenous erythroid colony formation (EEC), and JAK2 V617F ... DisGeNET Detail
JAK2 V617F is a very reliable and noninvasive molecular marker for CMPD and should be used as a firs... DisGeNET Detail
We studied the sensitivity and reproducibility of LightScanner™ platform in the detection of JAK2 V6... DisGeNET Detail
The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or chronic eosinophilic... DisGeNET Detail
We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50... DisGeNET Detail
In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can... DisGeNET Detail
Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPN... DisGeNET Detail
The JAK2(V617F) mutation does not elucidate the phenotypic variability observed in myeloproliferativ... DisGeNET Detail
We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patien... DisGeNET Detail
Sequence analysis was subsequently performed in the IE patient showing aberrant bands on allele-spec... DisGeNET Detail
Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, i... DisGeNET Detail
We investigated the activity of ITF2357, a novel histone deacetylase inhibitor (HDACi) with antitumo... DisGeNET Detail
A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 ... DisGeNET Detail
Together, these results support the concept that activating Stat1 in the presence of JAK2-V617F, for... DisGeNET Detail
The discovery of the Janus kinase 2 (JAK2) V617F mutation has improved our understanding of the path... DisGeNET Detail
Long term treatment with IFN2b is able to induce 'minimal residual disease' with very low JAK2 V617F... DisGeNET Detail
Relation between JAK2 (V617F) mutation status, granulocyte activation, and constitutive mobilization... DisGeNET Detail
The role of JAK2 V617F mutation, spontaneous erythropoiesis and megakaryocytopoiesis, hypersensitive... DisGeNET Detail
Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor cells from patients wi... DisGeNET Detail
It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majority of the patients w... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPN... DisGeNET Detail
JAK2 V617F mutation status of 232 patients diagnosed with chronic myeloproliferative neoplasms. DisGeNET Detail
We studied the relationship between granulocyte JAK2 (V617F) mutation status, circulating CD34(+) ce... DisGeNET Detail
Because JAK2 V617F is specific for myeloid neoplasms, and because it can be detected in peripheral b... DisGeNET Detail
GVS inhibited colony formation and proliferation and induced apoptosis at doses two- to threefold lo... DisGeNET Detail
The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative regulation by suppress... DisGeNET Detail
We analyzed Dkk3 serum levels with ELISA in patients with newly diagnosed and untreated MPN, includi... DisGeNET Detail
Since variability in the JAK2(V617F) allele burden is partly responsible for the distinct phenotypes... DisGeNET Detail
We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patien... DisGeNET Detail
The JAK2 V617F mutation is responsible for the constitutive activation of the erythropoietin recepto... DisGeNET Detail
In addition, homozygous JAK2 V617F mutation was detected from the myeloid sarcoma specimen. DisGeNET Detail
The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibros... DisGeNET Detail
The main conclusion is that JAK2 V617F is a 100% specific clue to a new distinct clonal myeloprolife... DisGeNET Detail
Transcription factor Fli-1 expression by bone marrow cells in chronic myeloproliferative disorders i... DisGeNET Detail
However, compared with the PRV-1 assay, mutation screening for JAK2(V617F) displayed greater accurac... DisGeNET Detail
Strikingly, the JAK2(V617F) mutation is found in nearly all patients suffering from polycythemia ver... DisGeNET Detail
Thus, mice developing PV secondary to constitutive JAK2(V617F) expression exhibit a bleeding tendenc... DisGeNET Detail
The high prevalence of the V617F mutation of Janus kinase 2 and associated mutations in myeloprolife... DisGeNET Detail
The observed biological difference in circulating granulocyte involvement by the JAK2 V617F clone ne... DisGeNET Detail
JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (33%) with myelofibros... DisGeNET Detail
The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause E... DisGeNET Detail
Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele... DisGeNET Detail
These standards were used in two JAK2 p.V617F assays, which were used to support clinical studies of... DisGeNET Detail
The JAK2 46/1 haplotype has recently been described as a major contributing factor to the developmen... DisGeNET Detail
The frequency of the JAK2 V617F was 73% (85% in PV, 65% in ET, and 65% in CIMF). DisGeNET Detail
Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a sing... DisGeNET Detail
The identification of Jak2(V617F) mutations in more than 90% of patients with polycythemia vera (PV)... DisGeNET Detail
The V617F mutation in the JAK2 non-receptor tyrosine kinase (JAK2V617F) is present as an early somat... DisGeNET Detail
AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelof... DisGeNET Detail
Multiple iPS cell lines were also generated from peripheral blood CD34(+) cells of 2 patients with m... DisGeNET Detail
Removing sex as a potential confounder, we identified an accurate molecular method for classifying p... DisGeNET Detail
While the clinical phenotype of JAK2 exon 12 lesions in the MPD was predominantly erythroid, there w... DisGeNET Detail
These data indicate that loss of wild-type clones at the progenitor level is a feature of MF (primar... DisGeNET Detail
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. DisGeNET Detail
Catastrophic intra-abdominal thrombosis can result from a variety of prothrombotic states, including... DisGeNET Detail
Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV an... DisGeNET Detail
A new MALDI-TOF-based assay for monitoring JAK2 V617F mutation level in patients undergoing allogene... DisGeNET Detail
A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2... DisGeNET Detail
The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3... DisGeNET Detail
The JAK2 V617F mutation, present in the majority of polycythemia vera (PV) patients, causes constitu... DisGeNET Detail
The JAK2-V617F mutation was observed in three lineages of granulocytes, platelets, and BFU-E in almo... DisGeNET Detail
The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% for ET, 80% for myel... DisGeNET Detail
The JAK2 V617F mutation is absent in patients with erythrocytosis due to high oxygen affinity hemogl... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
Clearance of the Janus kinase 2 (JAK2) V617F mutation after allogeneic stem cell transplantation in ... DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
This report describes the first case of myeloid sarcoma with JAK2 V617F mutation and implication of ... DisGeNET Detail
Different numbers of cell lineages harboring the JAK2-V617F mutation were found, being the lowest in... DisGeNET Detail
The JAK2 46/1 haplotype has recently been described as a major contributing factor to the developmen... DisGeNET Detail
In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm ... DisGeNET Detail
The JAK2(V617F) mutation is present in the majority of patients with polycythemia vera and one-half ... DisGeNET Detail
Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses of unknown origin b... DisGeNET Detail
The JAK2 V617F mutation was detected in 86 per cent of patients with CMPD disorders. DisGeNET Detail
The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera... DisGeNET Detail
In addition, a patient with polycythemia vera diagnosed as being JAK2 V617F-negative by unlabeled pr... DisGeNET Detail
The development of gastric cancer in a patient with polycythemia Vera, 3P deletion, and JAK2 V617F m... DisGeNET Detail
We studied the lineage distribution of JAK2 mutations in peripheral blood of 8 polycythemia vera (PV... DisGeNET Detail
An activating JAK2 mutation (JAK2 V617F) is present in the chronic myeloproliferative disorders (MPD... DisGeNET Detail
STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associat... DisGeNET Detail
The JAK2(V617F) mutation, which has been found in patients with myeloproliferative disorders (MPD), ... DisGeNET Detail
JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V6... DisGeNET Detail
Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associ... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele... DisGeNET Detail
Further investigations for intracoronary thrombus with no underlying atherosclerotic disease reveale... DisGeNET Detail
The evolving evidence that JAK2 V617F is not specific for polycythemia vera pathogenesis and the dev... DisGeNET Detail
In contrast, 68% of essential thrombocythemia (ET) patients have the JAK2-V617F mutation in at least... DisGeNET Detail
In essential thrombocythemia (ET), the JAK2-V617F mutation is usually restricted to a subpopulation ... DisGeNET Detail
These results support a role for platelet turnover, factor V, and aAPCR in the thrombosis of ET as w... DisGeNET Detail
The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V61... DisGeNET Detail
Tyk2 mutation homologous to V617F Jak2 is not found in essential thrombocythaemia, although it induc... DisGeNET Detail
Therefore, a contemporary approach to the diagnosis of polycythemia vera starts with peripheral bloo... DisGeNET Detail
A clear link appears to exist between leukocytosis, JAK2(V617F), and the hemostatic system activatio... DisGeNET Detail
As compared to their JAK2 V617F negative counterparts, the JAK2 V617F positive patients had PV-like ... DisGeNET Detail
PVTL-1 cells may provide a valuable model system to elucidate the molecular mechanisms involved in e... DisGeNET Detail
JAK2(V617F), the main mutation involved in MPN, is considered as a risk factor for thrombosis, altho... DisGeNET Detail
Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogenic JAK2 mutants, as w... DisGeNET Detail
We conclude that a burden of JAK2(V617F) allele greater than 75% at diagnosis points to PV patients ... DisGeNET Detail
The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are m... DisGeNET Detail
Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. DisGeNET Detail
In an MPD with t(9;12)(q13 approximately q21;q22) and JAK2 V617F mutation, array comparative genomic... DisGeNET Detail
Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogenei... DisGeNET Detail
The frequency of JAK2 V617F was 75.9% (249 of 328) in the CMPD group. DisGeNET Detail
SOCS3 transcript levels were highest in patients with polycythemia vera and other JAK2 V617F positiv... DisGeNET Detail
We screened 79 acute myeloid leukemia (AML) cell lines and found five positive for JAK2 V617F (HEL, ... DisGeNET Detail
JAK2 V617F was detected in 31 of 51 patients (60.8%) with essential thrombocythemia, all 16 patients... DisGeNET Detail
We report here that JAK2(V617F)-associated disease is strongly associated with a specific constituti... DisGeNET Detail
However, the molecular basis of JAK2 V617F-negative essential thrombocythemia and primary myelofibro... DisGeNET Detail
In polycythemia vera, JAK2 (V617F) was detected in 23 of 25 subjects at diagnosis and in 16 of 16 pa... DisGeNET Detail
The gain-of-function JAK2 V617F mutation shifts the phenotype of essential thrombocythemia and chron... DisGeNET Detail
The present data suggests the JAK2 V617F allele burden as a key determinant of the degree of myelopr... DisGeNET Detail
TET2 defects were present in hematopoietic stem cells and preceded the JAK2 V617F mutation in the fi... DisGeNET Detail
Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid ... DisGeNET Detail
We conclude that the extent of JAK2(V617F) CD34(+) cell clonal dominance is associated with disease ... DisGeNET Detail
LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17,... DisGeNET Detail
JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P = 2 × 10(-5) ), thr... DisGeNET Detail
Recently, the JAK2 V617F mutation has been reported in high proportions of chronic myeloproliferativ... DisGeNET Detail
JAK2 V617F mutation was found in 43 out of 46 patients (93.5%) with PV. DisGeNET Detail
Expression of the JAK2 V617F mutant renders Ba/F3 cells hypersensitive to insulin-like growth factor... DisGeNET Detail
Detection of the JAK2(V617F) mutation in myeloproliferative disorders by melting curve analysis usin... DisGeNET Detail
We pay particular attention to the newly identified JAK2 V617F mutation in polycythaemia vera, essen... DisGeNET Detail
In polycythemia vera, gender has recently been shown to influence the JAK2(V617F) allele burden, but... DisGeNET Detail
However it is not so easy, because iPSCs from hematological malignancies have been established only ... DisGeNET Detail
JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the los... DisGeNET Detail
The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... DisGeNET Detail
However, compared with the PRV-1 assay, mutation screening for JAK2(V617F) displayed greater accurac... DisGeNET Detail
The V617F mutation of JAK2 is the key molecular event in 90% of polycythaemia vera (PV), 50% of esse... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... DisGeNET Detail
Megakaryopoiesis and platelet function in polycythemia vera and essential thrombocythemia patients w... DisGeNET Detail
Impact of common thrombophilias and JAK2 V617F on pregnancy outcomes in unselected Italian women. DisGeNET Detail
JAK2 V617F is found in most patients with polycythemia vera, essential thrombocythemia, or primary m... DisGeNET Detail
Polycythemia vera (PV) is a chronic myeloproliferative neoplasm associated with JAK2 mutations (V617... DisGeNET Detail
Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative neoplasm (MPN) patie... DisGeNET Detail
Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and MPN-VT than in MPN-... DisGeNET Detail
The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis. DisGeNET Detail
Thus, targeting the pathway mediated by JAK and its downstream substrate, signal transducer and acti... DisGeNET Detail
The positive rate of JAK2 V617F in polycythaemia vera (PV), essential thrombocythaemia (ET) and prim... DisGeNET Detail
Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorder... DisGeNET Detail
Conventional diagnostic criteria for myeloproliferative disorders and the JAK2 V617F mutation (which... DisGeNET Detail
An activating JAK2 mutation (JAK2 V617F) is present in the chronic myeloproliferative disorders (MPD... DisGeNET Detail
A short TL correlated with JAK2-V617F allele burden greater than 50% (p = 0.0025), age (p = 0.0132) ... DisGeNET Detail
We report a case of a 62-year-old black man with progressive abdominal swelling and features of deco... DisGeNET Detail
The JAK2 V617F mutation in de novo acute myelogenous leukemias. DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
These data also support the hypothesis that level of JAK2(V617F) expression influences the MPN pheno... DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
In a patient with 2 TET2 mutations, the analysis of 5 blood samples at different phases of her disea... DisGeNET Detail
Recently, Janus kinase-2 (JAK2) V617F mutation has an important role in the diagnosis of myeloprolif... DisGeNET Detail
JAK2(V617F) may assist in prognostic stratification of patients with PV. DisGeNET Detail
JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IG... DisGeNET Detail
SOCS1 expression was raised in myeloproliferative disorder granulocytes but the level was independen... DisGeNET Detail
All four samples were positive for JAK2 V617F, confirming the presence of a clonal hematopoietic dis... DisGeNET Detail
The evolving evidence that JAK2 V617F is not specific for polycythemia vera pathogenesis and the dev... DisGeNET Detail
JAK2(V617F) allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not su... DisGeNET Detail
Recently, several JAK2 exons 12 and 14 mutations have been detected in V617F-negative patients with ... DisGeNET Detail
JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I. DisGeNET Detail
The JAK2 V617F somatic mutation is present in the majority of patients with myeloproliferative cance... DisGeNET Detail
The JAK2(V617F) mutation is present in the majority of patients with polycythemia vera and one-half ... DisGeNET Detail
The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V61... DisGeNET Detail
This study revealed that CALR mutant essential thrombocythemia is associated with younger age, highe... DisGeNET Detail
The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JA... DisGeNET Detail
Involvement of JAK2 in erythroid cell proliferation has been highlighted by the role of JAK2 V617F m... DisGeNET Detail
In this retrospective cohort study, patients with cerebral venous thrombosis were tested for the JAK... DisGeNET Detail
An activating somatic mutation of Janus kinase 2 V617F (JAK2V617F) is present in most polycythemia v... DisGeNET Detail
Molecular genetic assays for the detection of the JAK2 V617F (c.1849G&gt;T) and other pathogenetic m... DisGeNET Detail
The acquired somatic Janus kinase 2 (JAK2) V617F mutation is present in the majority of PV and ET pa... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause E... DisGeNET Detail
An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-negative myeloprolifera... DisGeNET Detail
Patients with MVT and CVT were negative for JAK2 V617F, except one patient with CVT and a diagnosis ... DisGeNET Detail
Interestingly, 46/1 was associated with increased erythropoiesis in JAK2(V617F)-negative SVT patient... DisGeNET Detail
As compared to those with less than 25% mutant allele, patients harboring greater than 75% JAK2(V617... DisGeNET Detail
The JAK2 V617F mutation is highly prevalent in patients with myeloproliferative neoplasms (MPN). DisGeNET Detail
The JAK2(V617F) mutation does not elucidate the phenotypic variability observed in myeloproliferativ... DisGeNET Detail
Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extramedullary hematopoiesi... DisGeNET Detail
JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also pro... DisGeNET Detail
JAK2 exon 14 skipping in patients with primary myelofibrosis: a minor splice variant modulated by th... DisGeNET Detail
JAK2 V617F-positive ET/PV and CIMF should be distinguished from wild-type JAK2 ET, rare cases of PV,... DisGeNET Detail
After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying th... DisGeNET Detail
The V617F mutation in the JAK2 non-receptor tyrosine kinase (JAK2V617F) is present as an early somat... DisGeNET Detail
Decrease in JAK2 V617F allele burden is not a prerequisite to clinical response in patients with pol... DisGeNET Detail
Recently, several JAK2 exons 12 and 14 mutations have been detected in V617F-negative patients with ... DisGeNET Detail
The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3... DisGeNET Detail
Detection of acquired Janus kinase 2 V617F mutation in myeloproliferative disorders by fluorescence ... DisGeNET Detail
The JAK2(V617F) mutation is present in the majority of patients with polycythaemia vera and in appro... DisGeNET Detail
SOCS1 expression was raised in myeloproliferative disorder granulocytes but the level was independen... DisGeNET Detail
Thus, for Ph(-) MPN in which ET and prefibrotic PMF represent the most probable diagnoses, a JAK2(V6... DisGeNET Detail
This study revealed that CALR mutant essential thrombocythemia is associated with younger age, highe... DisGeNET Detail
We developed a real-time copy number polymerase chain reaction assay for deletions on chromosome 20q... DisGeNET Detail
Although investigation for JAK2 V617F mutation is recommended in patients presenting with splanchnic... DisGeNET Detail
None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorder... DisGeNET Detail
A work-up for JAK2 V617F mutation and thrombophilia was done. DisGeNET Detail
Recently, a single gain-of-function point mutation of JAK2 was described in myeloproliferative disea... DisGeNET Detail
The main conclusion is that JAK2 V617F is a 100% specific clue to a new distinct clonal myeloprolife... DisGeNET Detail
Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogenic JAK2 mutants, as w... DisGeNET Detail
In the current study, mutations of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 were analy... DisGeNET Detail
We tested 22 patients with high oxygen affinity beta chain variants for the presence of the JAK2 V61... DisGeNET Detail
Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in t... DisGeNET Detail
A substantial proportion of patients with splanchnic venous thrombosis and a small, but significant,... DisGeNET Detail
Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPN... DisGeNET Detail
The BCR-ABL-negative myeloproliferative neoplasms (MPNs), polycythemia vera (PV), essential thromboc... DisGeNET Detail
Most patients with polycythemia vera have JAK2(V617F) mutation. DisGeNET Detail
Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of... DisGeNET Detail
The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V61... DisGeNET Detail
Reliable detection of the JAK2 V617F mutation is a major criterion in the diagnosis of BCR/ABL-negat... DisGeNET Detail
Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and MPN-VT than in MPN-... DisGeNET Detail
Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in several myeloid prolif... DisGeNET Detail
The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V61... DisGeNET Detail
Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. DisGeNET Detail
Prevalence of the JAK2-V617F mutation in Taiwanese patients with chronic myeloproliferative disorder... DisGeNET Detail
Correlations of JAK2-V617F mutation with clinical and laboratory findings in patients with myeloprol... DisGeNET Detail
Givinostat and hydroxyurea synergize in vitro to induce apoptosis of cells from JAK2(V617F) myelopro... DisGeNET Detail
Genetic or PAD-mediated PP2A reactivation induces Jak2(V617F) inactivation/downregulation and impair... DisGeNET Detail
The V617F mutation of JAK2 is the key molecular event in 90% of polycythaemia vera (PV), 50% of esse... DisGeNET Detail
The activating mutation of JAK2, V617F, has been found as a frequent mutation in myeloproliferative ... DisGeNET Detail
The BCR-ABL-negative myeloproliferative neoplasms (MPNs), polycythemia vera (PV), essential thromboc... DisGeNET Detail
The JAK2 V617F mutation is found in most patients with a myeloproliferative neoplasm and is sufficie... DisGeNET Detail
Retrospective data have identified JAK2(V617F) as a risk factor for thrombosis in ET, and have also ... DisGeNET Detail
A JAK2 (V617F) gene dosage effect on both CD34(+) cell counts and granulocyte activation was clearly... DisGeNET Detail
The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are m... DisGeNET Detail
An acquired V617F JAK2 mutation occurs in patients with polycythemia vera (PV) or essential thromboc... DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
Strikingly, the JAK2(V617F) mutation is found in nearly all patients suffering from polycythemia ver... DisGeNET Detail
Association between thromboembolic events and the JAK2 V617F mutation in myeloproliferative neoplasm... DisGeNET Detail
Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor cells from patients wi... DisGeNET Detail
The JAK2(V617F) tyrosine kinase mutation in myeloproliferative disorders: Summary of published liter... DisGeNET Detail
The recently identified JAK2(V617F) mutation is frequently present in the classic CMPDs polycythemia... DisGeNET Detail
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... DisGeNET Detail
The specificity of a JAK2 V617F PCR test for the diagnosis of MPD is high (near 100%), but only half... DisGeNET Detail
Janus kinase 2 V617F mutation is detectable in spleen of patients with chronic myeloproliferative di... DisGeNET Detail
JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IG... DisGeNET Detail
Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, poly... DisGeNET Detail
Pathogenetic role of JAK2 V617F mutation in chronic myeloproliferative disorders. DisGeNET Detail
In conclusion, a simple model which includes: age, JAK2 V617F-status and constitutional symptoms can... DisGeNET Detail
Clearance of the Janus kinase 2 (JAK2) V617F mutation after allogeneic stem cell transplantation in ... DisGeNET Detail
Recent information regarding disease pathogenesis, including a contribution to the myeloproliferativ... DisGeNET Detail
Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferat... DisGeNET Detail
Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele... DisGeNET Detail
Thus, JAK2(V617F) is frequently present in splenic EMH cells associated with CMPD, but it is rarely ... DisGeNET Detail
A unique activating mutation in JAK2 (V617F) is at the origin of polycythemia vera and allows a new ... DisGeNET Detail
Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycyth... DisGeNET Detail
These preliminary observations indicate that the Jak2(V617F) mutation in particular and PRV-1 overex... DisGeNET Detail
A longitudinal study of the JAK2(V617F) mutation in myelofibrosis with myeloid metaplasia: analysis ... DisGeNET Detail
The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloprolifer... DisGeNET Detail
A high JAK2(V617F) allele burden was correlated with the transformation to myelofibrosis (p&lt;0.000... DisGeNET Detail
Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferat... DisGeNET Detail
In an MPD with t(9;12)(q13 approximately q21;q22) and JAK2 V617F mutation, array comparative genomic... DisGeNET Detail
We tested 22 patients with high oxygen affinity beta chain variants for the presence of the JAK2 V61... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
The role of Janus Kinase 2 V617F mutation in extramedullary hematopoiesis of the spleen in neoplasti... DisGeNET Detail
A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was... DisGeNET Detail
Hemopoietic progenitor cells (HPC) from myeloproliferative neoplasms (MPN) such as myelofibrosis com... DisGeNET Detail
Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 w... DisGeNET Detail
The present study support the concept of the JAK2 V617F positive chronic myeloproliferative disorder... DisGeNET Detail
JAK2(V617F) was identified in patients previously diagnosed with a myeloproliferative disorder or ac... DisGeNET Detail
As his complete blood count included a few myeloid blasts (1% of WBC) and a bone marrow biopsy detec... DisGeNET Detail
The JAK2 V617F mutation is common in patients with Philadelphia-negative chronic myeloproliferative ... DisGeNET Detail
The detection rate of JAK2 V617F mutants for polycythemia vera, chronic idiopathic myelofibrosis, an... DisGeNET Detail
The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% for ET, 80% for myel... DisGeNET Detail
Finally, a significant correlation between JAK2 V617F mutational status and hematocrit (Ht), white b... DisGeNET Detail
The JAK2(V617F) mutation is present in almost all patients with polycythemia vera (PV), large propor... DisGeNET Detail
Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative neoplasm (MPN) patie... DisGeNET Detail
Here we show that NF-E2 expression is also increased in patients with essential thrombocythemia and ... DisGeNET Detail
Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associ... DisGeNET Detail
Patients with MVT and CVT were negative for JAK2 V617F, except one patient with CVT and a diagnosis ... DisGeNET Detail
It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia v... DisGeNET Detail
The fact that all JAK2(V617F)-negative cases remained negative after blast crisis reinforces the the... DisGeNET Detail
JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the los... DisGeNET Detail
Recently, Janus kinase-2 (JAK2) V617F mutation has an important role in the diagnosis of myeloprolif... DisGeNET Detail
We conclude that development of therapeutic strategies that target the JAK2(V617F) clonal cells may ... DisGeNET Detail
Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a charac... DisGeNET Detail
SOCS1 expression was raised in myeloproliferative disorder granulocytes but the level was independen... DisGeNET Detail
JAK2 V617F mutation is uncommon in non-Hodgkin lymphomas. DisGeNET Detail
The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative... DisGeNET Detail
Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is assoc... DisGeNET Detail
The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... DisGeNET Detail
The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V61... DisGeNET Detail
Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associ... DisGeNET Detail
Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm... DisGeNET Detail
STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associat... DisGeNET Detail
However, JAK2 inhibitors have limited ability to reduce JAK2 V617F allele burden or bone marrow fibr... DisGeNET Detail
The JAK2 V617F mutation was strong predictor for thrombosis in essential thrombocytemia patients (re... DisGeNET Detail
The JAK2-V617F mutation significantly correlated with higher leukocyte count and alkaline phosphatas... DisGeNET Detail
An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patients with chronic idi... DisGeNET Detail
AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelof... DisGeNET Detail
Open-label study of oral CEP-701 (lestaurtinib) in patients with polycythaemia vera or essential thr... DisGeNET Detail
Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the presence and the muta... DisGeNET Detail
Increased PRV-1 mRNA expression and the presence of Jak2(V617F) mutation in peripheral blood granulo... DisGeNET Detail
Givinostat and hydroxyurea synergize in vitro to induce apoptosis of cells from JAK2(V617F) myelopro... DisGeNET Detail
Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 ... DisGeNET Detail
These results support a role for platelet turnover, factor V, and aAPCR in the thrombosis of ET as w... DisGeNET Detail
JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustere... DisGeNET Detail
The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or chronic eosinophilic... DisGeNET Detail
JAK2 V617F mutation is a molecular marker for myeloproliferative neoplasms (MPNs). DisGeNET Detail
The high prevalence of the V617F mutation of Janus kinase 2 and associated mutations in myeloprolife... DisGeNET Detail
Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid ... DisGeNET Detail
We genotyped 149 myeloproliferative neoplasms patients (69 had polycythemia vera, 65 had essential t... DisGeNET Detail
At clinically informative sites, we identified seven low-frequency point mutations (0.2%-4.7%), incl... DisGeNET Detail
At clinically informative sites, we identified seven low-frequency point mutations (0.2%-4.7%), incl... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs77375493 dbSNP
Genome
hg19
Position
chr9:5,073,770-5,073,770
Variant Type
snv
Reference Allele
G
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs77375493
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8606
East Asian Allele Counts (ExAC)
5
East Asian Heterozygous Counts (ExAC)
5
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
5.809900069718801E-4
Chromosome Counts in All Race (ExAC)
120882
Allele Counts in All Race (ExAC)
82
Heterozygous Counts in All Race (ExAC)
78
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
6.783474793600371E-4
Variant (CIViC) (CIViC Variant)
V617F
Transcript 1 (CIViC Variant)
ENST00000381652.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/64
Summary (CIViC Variant)
JAK2 V617F is a highly recurrent mutation in myeloproliferative diseases. It is found in around 98% of patients with polycythemia vera, and just over half of the patients with essential thrombocythemia and primary myelofibrosis. While less associated with cancer, when it is seen, it is more likely to be in myeloid leukemias than lymphoid leukemias. The V617F mutation is an activating mutation, resulting in increased kinase activity. The mutation seems to be restricted to hematologic malignancies. Treatment of JAK mutant diseases with ruxolitinib has seen some clinical success.
Genome browser