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Article

Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue.

Journal of molecular and cellular cardiology - 1 Aug 2016

Wijnker Paul J M, Friedrich Felix W, Dutsch Alexander, Reischmann Silke, Eder Alexandra, Mannhardt Ingra, Mearini Giulia, Eschenhagen Thomas, van der Velden Jolanda, Carrier Lucie

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease characterized by left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. The most frequently mutated gene is MYBPC3, encoding cardiac myosin-binding protein-C (cMyBP-C). We compared the pathomechanisms of a truncating mutation (c.2373_2374insG) and a missense mutation (c.1591G>C) in MYBPC3 in engineered heart tissue (EHT). EHTs...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27108529
DOI: 10.1016/j.yjmcc.2016.03.003

Genes

MYBPC3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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