Open AccessA loss‐of‐function mutation p.T256M in NDRG4 is implicated in the pathogenesis of pulmonary atresia with ventricular septal defect (PA/VSD) and tetralogy of Fallot (TOF)
Author(s) -
Peng Jiayu,
Wang Qingjie,
Meng Zhuo,
Wang Jian,
Zhou Yue,
Zhou Shuang,
Song Wenting,
Chen Sun,
Chen Alex F.,
Sun Kun
Publication year - 2021
Publication title -
febs open bio
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.718
H-Index - 31
ISSN - 2211-5463
DOI - 10.1002/2211-5463.13044
Subject(s) - tetralogy of fallot , pathogenesis , pulmonary atresia , ventricle , medicine , cardiology , pulmonary artery , heart disease
N‐myc downstream‐regulated gene (NDRG)4 is widely expressed in human embryonic hearts. The p.T256M variant in NDRG4 resulted in G1 and G2 arrest of human cardiac myocytes, thereby impairing their proliferative ability, which likely contributes towards the pathogenesis of pulmonary atresia with ventricular septal defect and tetralogy of Fallot.