Associated Papers
A novel ACTA2 variant in sudden fatal familial thoracic aortic dissection: literature review and genotype-phenotype expansion.
Lihua L et al.
Legal Medicine (tokyo, Japan), 2026
ACTA2 Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis.
Boerio ML et al.
Circulation. Genomic and Precision Medicine, 2026
Multifocal disease progression and subsequent intervention in patients with actin alpha-2 variants: A single-center experience.
Maigrot JA et al.
The Journal of Thoracic and Cardiovascular Surgery, 2024
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T et al.
Journal of the American Heart Association, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Kaw A et al.
American Journal of Medical Genetics. Part A, 2022
Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.
Li J et al.
Molecular Genetics & Genomic Medicine, 2021
NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.
Gentilini D et al.
Plos One, 2019
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E et al.
Human Mutation, 2018
Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome.
Prabhu S et al.
World Journal for Pediatric & Congenital Heart Surgery, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Molecular Regulation of Arterial Aneurysms: Role of Actin Dynamics and microRNAs in Vascular Smooth Muscle.
Alajbegovic A et al.
Frontiers in Physiology, 2017
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.
Regalado ES et al.
Circulation. Cardiovascular Genetics, 2015
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
Campens L et al.
Orphanet Journal of Rare Diseases, 2015
Acute aortic dissections with pregnancy in women with ACTA2 mutations.
Regalado ES et al.
American Journal of Medical Genetics. Part A, 2014
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
Renard M et al.
International Journal of Cardiology, 2013
Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene.
Imai T et al.
European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery, 2011
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.
Hoffjan S et al.
European Journal of Human Genetics : Ejhg, 2011
α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies.
Yuan SM
Brazilian Journal of Cardiovascular Surgery, 0