Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice - Concepedia

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Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice

DOI Full Paper Access

14

Citations

42

References

2023

Year

Bo Sun, Omid M.T. Rouzbehani, Ryan J. Kramer, Rajeshwary Ghosh, Robin M. Perelli, S. Atkins, Amir Nima Fatahian, Kathryn Davis, Marta W. Szulik, Michael A. Goodman,

Circulation Heart Failure

Abstract

Novel loss-of-function <i>PRDM16</i> variant impairs myocardial development resulting in noncompaction cardiomyopathy in humans and mice associated with altered TGF-β signaling.

References

	Year	Citations

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