Annotation Detail
Information
- Associated Genes
- PARP1
- Associated Variants
-
PARP1 MUTATION
PARP1 MUTATION - Associated Disease
- Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
- Source Database
- DisGeNET
- Description
- Furthermore, using a gain and loss of function approach, we showed that increased hypoxia-inducible factor 1α, which is observed in PAH, triggers this decrease in miR-223 expression and subsequent overexpression of PARP-1 allowing PAH-PASMC proliferation and resistance to apoptosis.
- Pubmed
- 26084306
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs