Key result
Human GATA4 missense mutations (G303E and G296S) disrupt interactions with SMAD4, leading to impaired endocardial cushion development and atrioventricular septal defects.
Population
Preclinical models including mice with endothelial-specific Gata4 and Smad4 compound haploinsufficiency…
Comparison
Genetic manipulation vs Wild-type/normal controls (implied)
Design
Preclinical
Authors
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Animal models link GATA4-SMAD4 disruption to AVSD; leaves open human causality and clinical translation.
GATA4 and SMAD4 cooperatively regulate cardiac valve development via Id2, and mutations disrupting this interaction cause atrioventricular septal defects.
Moskowitz et al. (2011) studied Atrioventricular septal defects and valve abnormalities. GATA4 missense mutations (G303E and G296S) and Smad4 deficiency vs. Wild-type was evaluated on Endocardial cushion development and protein interactions. Human GATA4 missense mutations (G303E and G296S) disrupt interactions with SMAD4, leading to impaired endocardial cushion development and atrioventricular septal defects.
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