Article

Multi-scale models reveal hypertrophic cardiomyopathy MYH7 G256E mutation drives hypercontractility and elevated mitochondrial respiration

2023-06-09

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Rationale</h4> Over 200 mutations in the sarcomeric protein β-myosin heavy chain (MYH7) have been linked to hypertrophic cardiomyopathy (HCM). However, different mutations in MYH7 lead to variable penetrance and clinical severity, and alter myosin function to varying degrees, making it difficult to determine genotype-phenotype relationships, especially when caused by rare gene variants such...

Topics

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

Identifiers and source

Literature Corpus work: 9e3eb53f-4bce-5dae-9411-c6b004649864
DOI: 10.1101/2023.06.08.544276

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Multi-scale models reveal hypertrophic cardiomyopathy MYH7 G256E mutation drives hypercontractility and elevated mitochondrial respirationDOI 10.1101/2023.06.08.544276Read

Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration.Semantic proximity Read

Hypertrophic cardiomyopathy ß-cardiac myosin mutation (P710R) leads to hypercontractility by disrupting super-relaxed stateSemantic proximity Read

Beta-Adrenergic Stimulation and <i>MYH7</i> G256E Mutant Gene Dosage Drive Hypertrophic Cardiomyopathy Phenotype PenetranceSemantic proximity Read

The E525K β-Myosin Mutation Causes Hypocontractility in Cardiomyocytes Without Altering Loaded Crossbridge CyclingSemantic proximity Read

Multi-Omics Profiling of Hypertrophic Cardiomyopathy Reveals Altered Mechanisms in Mitochondrial Dynamics and Excitation-Contraction Coupling.Semantic proximity Read

Hypertrophic cardiomyopathy β-cardiac myosin mutation (P710R) leads to hypercontractility by disrupting super relaxed state.Semantic proximity Read

Human iPSC-CMs and in-silico technologies define mechanisms and accelerate targeted pharmacogenetics in hypertrophic cardiomyopathySemantic proximity Read

Genetic diversity and molecular mechanisms in hypertrophic cardiomyopathy: toward personalized therapy.Semantic proximity Read

Mechanisms of Pathogenicity of Hypertrophic Cardiomyopathy-Associated Troponin T (TNNT2) Variant R278C <sup>+/-</sup> During DevelopmentSemantic proximity Read

Long-term mavacamten exposure reduces force and sarcomere density in a hiPSC model of hypertrophic cardiomyopathySemantic proximity Read

Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic CardiomyopathySemantic proximity Read

Multiplexed functional assessments of <i>MYH7</i> variants in human cardiomyocytes at scaleSemantic proximity Read