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Article

Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

Proceedings of the National Academy of Sciences of the United States of America - 14 Jun 2016

Homburger Julian R, Green Eric M, Caleshu Colleen, Sunitha Margaret S, Taylor Rebecca E, Ruppel Kathleen M, Metpally Raghu Prasad Rao, Colan Steven D, Michels Michelle, Day Sharlene M, Olivotto Iacopo, Bustamante Carlos D, Dewey Frederick E, Ho Carolyn Y, Spudich James A, Ashley Euan A

Abstract excerpt

Myosin motors are the fundamental force-generating elements of muscle contraction. Variation in the human β-cardiac myosin heavy chain gene (MYH7) can lead to hypertrophic cardiomyopathy (HCM), a heritable disease characterized by cardiac hypertrophy, heart failure, and sudden cardiac death. How specific myosin variants alter motor function or clinical expression of disease remains incompletely understood. Here,...

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Share to Cardiac Myosins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Databases, Genetic

Share to Death, Sudden, Cardiac

Share to Genetic Diseases, Inborn

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Source

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Identifiers

PMID: 27247418
DOI: 10.1073/pnas.1606950113
PMCID: PMC4914177

Genes

MYH7

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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