chr9:5073770:G>T Detail (hg38) (JAK2, INSL6)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

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

HGVS

JAK2

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
	NM_001322198.1:c.1849G>T	NP_001309127.1:p.Val617Phe
	NM_001322199.1:c.1849G>T	NP_001309128.1:p.Val617Phe
	NM_001322204.1:c.1849G>T	NP_001309133.1:p.Val617Phe
	NM_004972.3:c.1849G>T	NP_004963.1:p.Val617Phe
Ensemble	ENST00000381652.4:c.1849G>T	ENST00000381652.4:p.Val617Phe

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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

JAK2

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
Pathogenic		other	somatic	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University

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>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>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 >50% represents a risk factor for...	BeFree	20631743	Detail
0.229	myelofibrosis	In conclusion, a JAK2 (V617F) allele burden >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>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>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>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>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>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>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>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

Descrption	Source	Links
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>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>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 >50% represents a risk factor for progression to MF i...	DisGeNET	Detail
In conclusion, a JAK2 (V617F) allele burden >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>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>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>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>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>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>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>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<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: hg38
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

chr9:5073770:G>T Detail (hg38) (JAK2, INSL6)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript