Article
RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects.
Disease models & mechanisms - 28 Aug 2018
Kim Bum Jun, Zaveri Hitisha P, Jordan Valerie K, Hernandez-Garcia Andres, Jacob Daron J, Zamora Diana L, Yu Wei, Schwartz Robert J, Scott Daryl A
Abstract excerpt
Deletions of chromosome 1p36 are associated with a high incidence of congenital heart defects (CHDs). The arginine-glutamic acid dipeptide repeats gene (RERE) is located in a critical region for CHD on chromosome 1p36 and encodes a cardiac-expressed nuclear receptor co-regulator. Mutations affecting RERE cause atrial and ventricular septal defects (VSDs) in humans, and RERE-deficient mice also develop VSDs....
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