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Article

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.

Nature genetics - 1 Mar 2006

Zhu Limin, Vranckx Roger, Khau Van Kien Philippe, Lalande Alain, Boisset Nicolas, Mathieu Flavie, Wegman Mark, Glancy Luke, Gasc Jean-Marie, Brunotte François, Bruneval Patrick, Wolf Jean-Eric, Michel Jean-Baptiste, Jeunemaitre Xavier

Abstract excerpt

We have recently described two kindreds presenting thoracic aortic aneurysm and/or aortic dissection (TAAD) and patent ductus arteriosus (PDA) and mapped the disease locus to 16p12.2-p13.13 (ref. 3). We now demonstrate that the disease is caused by mutations in the MYH11 gene affecting the C-terminal coiled-coil region of the smooth muscle myosin heavy chain, a specific contractile protein of smooth muscle cells...

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Share to Aortic Aneurysm, Thoracic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16444274
DOI: 10.1038/ng1721

Genes

MYH11

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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Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.PMID 16444274Read ↗

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.Semantic proximity Read ↗

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A deleterious MYH11 mutation causing familial thoracic aortic dissectionSemantic proximity Read ↗

Overexpression of Smooth Muscle Myosin Heavy Chain Leads to Activation of the Unfolded Protein Response and Autophagic Turnover of Thick Filament-associated Proteins in Vascular Smooth Muscle CellsSemantic proximity Read ↗

<i>MYH11</i> rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overloadSemantic proximity Read ↗

Rare, nonsynonymous variant in the smooth muscle-specific isoform of myosin heavy chain, MYH11, R247C, alters force generation in the aorta and phenotype of smooth muscle cells.Semantic proximity Read ↗

Congenital ductus arteriosus aneurysm in association with MYH11 mutation: a case report.Semantic proximity Read ↗

A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigreesSemantic proximity Read ↗

Mapping of Familial Thoracic Aortic Aneurysm/Dissection With Patent Ductus Arteriosus to 16p12.2–p13.13Semantic proximity Read ↗

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