Article
Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo.
PLoS genetics - 1 Jan 2012
Misra Chaitali, Sachan Nita, McNally Caryn Rothrock, Koenig Sara N, Nichols Haley A, Guggilam Anuradha, Lucchesi Pamela A, Pu William T, Srivastava Deepak, Garg Vidu
Abstract excerpt
Defects of atrial and ventricular septation are the most frequent form of congenital heart disease, accounting for almost 50% of all cases. We previously reported that a heterozygous G296S missense mutation of GATA4 caused atrial and ventricular septal defects and pulmonary valve stenosis in humans. GATA4 encodes a cardiac transcription factor, and when deleted in mice it results in cardiac bifida and lethality...
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