Associated Papers
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
Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.
Chen ZR et al.
Journal of Thoracic Disease, 2021
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
Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing.
Volozonoka L et al.
Journal of Assisted Reproduction and Genetics, 2018
ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke.
Cuoco JA et al.
Cerebrovascular Diseases (basel, Switzerland), 2018
Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.
Fang M et al.
Scientific Reports, 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
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
Analysis of ACTA2 in European Moyamoya disease patients.
Roder C et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2011
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).
Disabella E et al.
Heart (british Cardiac Society), 2011
ACTA2 is not a major disease-causing gene for moyamoya disease.
Shimojima K et al.
Journal of Human Genetics, 2009
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).
Morisaki H et al.
Human Mutation, 2009
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
Guo DC et al.
American Journal of Human Genetics, 2009
α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies.
Yuan SM
Brazilian Journal of Cardiovascular Surgery, 0