Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice
Sun B, Rouzbehani O, Kramer R, Ghosh R, Perelli R, Atkins S, Fatahian A, Davis K, Szulik M, Goodman M, Hathaway M, Chi E, Word T, Tunuguntla H, Denfield S, Wehrens X, Whitehead K, Abdelnasser H, Warren J, Wu M, Franklin S, Boudina S, Landstrom A. Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice. Circulation Heart Failure 2023, 16: e010351. PMID: 38113297, PMCID: PMC10752244, DOI: 10.1161/circheartfailure.122.010351.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisCardiomyopathiesCardiomyopathy, DilatedCell ProliferationCells, CulturedChild, PreschoolDNA-Binding ProteinsFemaleGene Knock-In TechniquesHeart FailureHumansInfant, NewbornIsolated Noncompaction of the Ventricular MyocardiumMaleMiceMyocardiumMyocytes, CardiacSignal TransductionTransforming Growth Factor betaConceptsInduced pluripotent stem cell-derived cardiomyocytesLeft ventricular noncompaction cardiomyopathyPluripotent stem cell-derived cardiomyocytesStem cell-derived cardiomyocytesVentricular noncompaction cardiomyopathyNoncompaction cardiomyopathyCell-derived cardiomyocytesTGF-b signalingMyocardial developmentTGF-bCardiomyopathy developmentTGF-b expressionLoss-of-function variantsKnock-in mouse modelTranscriptional dysregulation of genesStatistically significant impairmentIn vitro modelAge-dependent lossDysregulation of genesMyocyte proliferationVentricular dimensionsHeart failureCardiac maturationCardiomyopathyMouse model
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply