Article

Functional and Expression Studies of iPSC-Derived Cardiomyocytes Carrying a Novel HCM-Associated MYPN Genetic Variant

2025-12-22

Abstract excerpt

Variants in MYPN encoding a sarcomeric protein, myopalladin, are associated with different types of cardiomyopathies and myopathies. However, molecular mechanisms of MYPN-associated pathologies are still poorly understood. In this study, we generated induced pluripotent stem cells (iPSCs) from a hypertrophic cardiomyopathy patient carried a novel p.N989I (c.2966A&gt;T) variant in MYPN and used iPSC-derived car...

Topics

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

Identifiers and source

Literature Corpus work: badbde01-0e9a-5888-a8cb-5fba5f979a8a
DOI: 10.20944/preprints202512.1808.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Functional and Expression Studies of iPSC-Derived Cardiomyocytes Carrying a Novel HCM-Associated MYPN Genetic VariantDOI 10.20944/preprints202512.1808.v1Read

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

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.Semantic proximity Read

Distinct molecular features of FLNC mutations, associated with different clinical phenotypes.Semantic proximity Read

Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channelsSemantic proximity Read

Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction.Semantic proximity Read

Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review.Semantic proximity Read

Functional and transcriptomic insights into pathogenesis of R9C phospholamban mutation using human induced pluripotent stem cell-derived cardiomyocytes.Semantic proximity Read

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

Transcriptome and open chromatin analysis reveals the process of myocardial cell development and key pathogenic target proteins in Long QT syndrome type 7.Semantic proximity Read

Induced Pluripotent Stem Cell–Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium PerturbationsSemantic proximity Read

RBM20-variants induce distinct calcium handling and metabolic phenotypes in patient-specific stem cell models of dilated and non-compaction cardiomyopathySemantic proximity Read