Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice.
Bo SunOmid M T RouzbehaniRyan J KramerRajeshwary GhoshRobin M PerelliSage AtkinsAmir Nima FatahianKathryn DavisMarta W SzulikMichael A GoodmanMarissa A HathawayEllenor ChiTarah A WordHari TunuguntlaSusan W DenfieldXander H T WehrensKevin J WhiteheadHala Y AbdelnasserJunco S WarrenMingfu WuSarah FranklinSihem BoudinaAndrew P LandstromPublished in: Circulation. Heart failure (2023)
variant impairs myocardial development resulting in noncompaction cardiomyopathy in humans and mice associated with altered TGF-β signaling.