Article
Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development. [corrected]
Proceedings of the National Academy of Sciences of the United States of America - 8 Mar 2011
Moskowitz Ivan P, Wang Jun, Peterson Michael A, Pu William T, Mackinnon Alexander C, Oxburgh Leif, Chu Gerald C, Sarkar Molly, Berul Charles, Smoot Leslie, Robertson Elizabeth J, Schwartz Robert, Seidman Jonathan G, Seidman Christine E
Abstract excerpt
We report that the dominant human missense mutations G303E and G296S in GATA4, a cardiac-specific transcription factor gene, cause atrioventricular septal defects and valve abnormalities by disrupting a signaling cascade involved in endocardial cushion development. These GATA4 missense mutations, but not a mutation causing secundum atrial septal defects (S52F), demonstrated impaired protein interactions with...
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