Associated Papers
A Rare Heterozygous MYH11 Missense Variant in a Patient With Recurrent Strokes, Intracerebral Arterial Pathology, and Aortic Aneurysm.
Huggins HE et al.
Cureus, 2025
MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload.
Zhou Z et al.
Plos Genetics, 2025
MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload.
Zhou Z et al.
Biorxiv : the Preprint Server for Biology, 2024
Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.
Wei X et al.
Bmc Medical Genomics, 2024
A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.
Pan M et al.
Forensic Science, Medicine, and Pathology, 2024
Early Onset Parkinson Syndrome, Type A Aortic Aneurysm and Noncompaction Associated With the Novel Variant c.2225C>T in MYH11: A Case Report.
Finsterer J et al.
Cureus, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
Gilbert MA et al.
Human Mutation, 2020
Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.
Mariscalco G et al.
Journal of the American Heart Association, 2018
Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections.
Milewicz DM et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2017
The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections.
Zhang L et al.
Clinical Genetics, 2016
Graded effects of unregulated smooth muscle myosin on intestinal architecture, intestinal motility and vascular function in zebrafish.
Abrams J et al.
Disease Models & Mechanisms, 2016
A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigrees.
Imai Y et al.
International Journal of Cardiology, 2015
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Gauthier J et al.
European Journal of Human Genetics : Ejhg, 2015
A deleterious MYH11 mutation causing familial thoracic aortic dissection.
Takeda N et al.
Human Genome Variation, 2015
Non-syndromic thoracic aortic aneurysms and dissections--a genetic review.
Zhang P et al.
Frontiers in Bioscience (landmark Edition), 2013
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.
Pannu H et al.
Human Molecular Genetics, 2007