Article

MYBPC3 (c.194CT) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of DCM revealed by hiPSC modeling

2025-09-12

Abstract excerpt

<title>Abstract</title> Dilated cardiomyopathy (DCM) is a leading cause of heart failure and the primary indication for heart transplantation. The intricate and poorly elucidated pathogenesis of genetic DCM, coupled with the paucity of effective therapeutic options, imposes a substantial burden on both patients and their families. In this study, we identified a novel <italic>MYBPC3</italic> mutation (c.194...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4ad0e616-64f8-5e61-bffb-f9411817ed55
DOI: 10.21203/rs.3.rs-7455786/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

MYBPC3 (c.194CT) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of DCM revealed by hiPSC modelingDOI 10.21203/rs.3.rs-7455786/v1Read

MYBPC3(c.194C>T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of dilated cardiomyopathy revealed by hiPSC modelingSemantic proximity Read

MYBPC3 (c.194 C > T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of DCM revealed by HiPSC modeling.Semantic proximity Read

MYBPC3 D389V Variant Induces Hypercontractility in Cardiac OrganoidsSemantic proximity Read

Unveiling cellular mechanisms underlying MYZAP related dilated cardiomyopathy using patient specific hiPSC cardiomyocytes.Semantic proximity Read

Cardiomyopathy phenotypes caused by a heterozygous MYBPC3 mutation revealed in different hiPSC cardiac models.Semantic proximity Read

Modeling structural and functional deficiencies ofRBM20familial dilated cardiomyopathy using human induced pluripotent stem cellsSemantic proximity Read

Dilated cardiomyopathy: a new insight into the rare but common cause of heart failure.Semantic proximity Read

Patient-Specific Induced Pluripotent Stem Cells as a Model for Familial Dilated CardiomyopathySemantic proximity Read

Impaired Relaxation in Induced Pluripotent Stem Cell-Derived Cardiomyocytes with Pathogenic TNNI3 Mutation of Pediatric Restrictive Cardiomyopathy.Semantic proximity Read

Variable cMyBP-C expression from cell to cell in a MYBPC3c.927-2 A>G hiPSC-CM model recapitulates HCM patient phenotype.Semantic proximity Read

Titin-truncating variants in hiPSC cardiomyocytes induce pathogenic proteinopathy and sarcomere defects with preserved core contractile machinerySemantic proximity Read

Multiparametric Assessment of TNNI3 Variant Phenotypes in Human iPSC-Cardiomyocytes Correlates with Disease Severity in PatientsSemantic proximity Read