Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis

@article{Ang2016DiseaseMO,
  title={Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis},
  author={Yen-Sin Ang and Renee N. Rivas and Alexandre J.S. Ribeiro and Rohith Kannappan Srivas and Janell Rivera and Nicole R. Stone and Karishma Pratt and Tamer M A Mohamed and Ji-Dong Fu and C. Ian Spencer and Nathaniel D. Tippens and Molong Li and Anil Narasimha and Ethan Radzinsky and Anita Moon-Grady and Haiyuan Yu and Beth L. Pruitt and Michael P. Snyder and Deepak Srivastava},
  journal={Cell},
  year={2016},
  volume={167},
  pages={1734-1749.e22}
}
Mutation of highly conserved residues in transcription factors may affect protein-protein or protein-DNA interactions, leading to gene network dysregulation and human disease. Human mutations in GATA4, a cardiogenic transcription factor, cause cardiac septal defects and cardiomyopathy. Here, iPS-derived cardiomyocytes from subjects with a heterozygous GATA4-G296S missense mutation showed impaired contractility, calcium handling, and metabolic activity. In human cardiomyocytes, GATA4 broadly co… CONTINUE READING

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References

Publications referenced by this paper.
SHOWING 1-10 OF 48 REFERENCES

Gata4 is required for maintenance of postnatal cardiac function and protection from pressure overload-induced heart failure.

  • Proceedings of the National Academy of Sciences of the United States of America
  • 2006
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL

Genetic regulation of cardiogenesis and congenital heart disease

D. Srivastava
  • Annu. Rev. Pathol
  • 2006
VIEW 2 EXCERPTS
HIGHLY INFLUENTIAL