Spectrum of heart disease associated with murine and human GATA4 mutation.

@article{Rajagopal2007SpectrumOH,
  title={Spectrum of heart disease associated with murine and human GATA4 mutation.},
  author={Satish K. Rajagopal and Qing Ma and Dita Obler and Jie Shen and Ani Manichaikul and Aoy Tomita-Mitchell and Kari Boardman and Christine J. Briggs and Vidu Garg and Deepak Srivastava and Elizabeth Goldmuntz and Karl W. Broman and D. Woodrow Benson and Leslie B. Smoot and William T. Pu},
  journal={Journal of molecular and cellular cardiology},
  year={2007},
  volume={43 6},
  pages={
          677-85
        }
}
The transcription factor GATA4 is essential for heart morphogenesis. Heterozygous mutation of GATA4 causes familial septal defects. However, the phenotypic spectrum of heterozygous GATA4 mutation is not known. In this study, we defined the cardiac phenotypes that result from heterozygous mutation of murine Gata4. We then asked if GATA4 mutation occurs in humans with these forms of congenital heart disease (CHD). In mice, heterozygous Gata4 mutation was associated with atrial and ventricular… CONTINUE READING

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