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
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
40332002 (PubMed )
Supplement: ijms-26-03509-s001.zip › Table_S1._Medically_ACMG_actionable_findings_and_carrier_status_identified_in_our_study.xlsx › Allele_frequencies
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
38773466 (PubMed )
Supplement: 12920_2024_1908_MOESM2_ESM.xlsx › MYH11_hg19
In reply to the letter to the editor regarding: Cerebral arteriopathy in a pediatric stroke due to mutations in MYH11.
Sanchez S et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2023
Anesthetic Management of a Cesarean Delivery in a Patient With MYH11 Mutation Who Underwent Aortic Replacement.
Kawasaki T et al.
Cureus, 2023
Association of gene polymorphisms in MYH11 and TGF-β signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection.
Chang Y et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2022
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.
Manshaei R et al.
Bmc Medical Genomics, 2022
35180879 (PubMed )
Supplement: 12920_2022_1166_MOESM3_ESM.xlsx › Table_S9
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
Chesneau B et al.
Molecular Genetics & Genomic Medicine, 2021
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.
Reuter MS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang H et al.
Scientific Reports, 2016
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
Renard M et al.
International Journal of Cardiology, 2013
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