Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension.

Conclusions: PAH is the first human disease related to potential TET2 germline mutations. Inherited and acquired abnormalities of TET2 occur in 0.39% of PAH cases. Decreased TET2 expression is ubiquitous and has potential as a PAH biomarker. PMID: 32192357 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32192357?dopt=Abstract

Source: Circulation - March 19, 2020 Category: Cardiology Authors: Potus F, Pauciulo MW, Cook EK, Zhu N, Hsieh A, Welch CL, Shen Y, Tian L, Lima P, Mewburn J, D'Arsigny CL, Lutz KA, Coleman AW, Damico R, Snetsinger B, Martin AY, Hassoun PM, Nichols WC, Chung WK, Rauh MJ, Archer SL Tags: Circulation Source Type: research