Article
Mutation p.S335X in GATA4 reduces its DNA binding affinity and enhances cell apoptosis associated with ventricular septal defect.
Current molecular medicine - 1 Jul 2013
Yang F, Wu M, Li Y, Zheng G-Y, Cao H-Q, Sun W, Yang R, Zhang H, Sheng Y-H, Kong X-Q, Tian X-L, Zhou L
Abstract excerpt
Genetic mutations in GATA4, a transcriptional factor, have been found to cause congenital heart diseases. The underlying mechanism, however, remains largely unknown. We previously reported 7 heterozygous variants in patients with ventricular septal defects (VSD). Here we functionally characterized a de novo mutation p.S335X and demonstrated that this mutation led to the pre-termination of its translation,...
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