Associated Papers
Loss of Myh11 K1256 Dysregulates the Extracellular Matrix and Focal Adhesion by Inhibiting Zyxin-Activated Transcription.
Tomida S et al.
International Journal of Molecular Sciences, 2025
MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload.
Zhou Z et al.
Plos Genetics, 2025
Prevalence and Influence of Genetic Variants on Follow-Up Results in Patients Surviving Thoracic Aortic Therapy.
Ghazy T et al.
Journal of Clinical Medicine, 2024
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
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 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
Resistance of Acta2R149C/+ mice to aortic disease is associated with defective release of mutant smooth muscle α-actin from the chaperonin-containing TCP1 folding complex.
Chen J et al.
The Journal of Biological Chemistry, 2021
Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.
Burger J et al.
Human Molecular Genetics, 2021
Thoracic aortic aneurysm gene dictionary.
Rohde S et al.
Asian Cardiovascular & Thoracic Annals, 2021
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
Myosins and Disease.
Coluccio LM
Advances in Experimental Medicine and Biology, 2020
99-Case Study of Sporadic Aortic Dissection by Whole Exome Sequencing Indicated Novel Disease-Associated Genes and Variants in Chinese Population.
Wang Z et al.
Biomed Research International, 2020
Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications.
Faggion Vinholo T et al.
Aorta (stamford, Conn.), 2019
Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant "Risk Variants".
Kwartler CS et al.
American Journal of Human Genetics, 2018
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Hocking JC et al.
Plos Genetics, 2018
Genetic approaches to identify pathological limitations in aortic smooth muscle contraction.
Huang J et al.
Plos One, 2018
Comparison of 10 murine models reveals a distinct biomechanical phenotype in thoracic aortic aneurysms.
Bellini C et al.
Journal of the Royal Society, Interface, 2017
Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.
Brownstein AJ et al.
Aorta (stamford, Conn.), 2017
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
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
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.
van de Luijtgaarden KM et al.
Human Genetics, 2015
Myh11(R247C/R247C) mutations increase thoracic aorta vulnerability to intramural damage despite a general biomechanical adaptivity.
Bellini C et al.
Journal of Biomechanics, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Constitutive phosphorylation of myosin phosphatase targeting subunit-1 in smooth muscle.
Tsai MH et al.
The Journal of Physiology, 2014
Tgfbr2 disruption in postnatal smooth muscle impairs aortic wall homeostasis.
Li W et al.
The Journal of Clinical Investigation, 2014
Smooth muscle hyperplasia due to loss of smooth muscle α-actin is driven by activation of focal adhesion kinase, altered p53 localization and increased levels of platelet-derived growth factor receptor-β.
Papke CL et al.
Human Molecular Genetics, 2013
Salt-sensitive hypertension and cardiac hypertrophy in transgenic mice expressing a corin variant identified in blacks.
Wang W et al.
Hypertension (dallas, Tex. : 1979), 2012
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.
Kuang SQ et al.
Circulation Research, 2012