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
Mutational landscape of inflammatory breast cancer.
Bertucci F et al.
Journal of Translational Medicine, 2024
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
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
Molecular Regulation of Arterial Aneurysms: Role of Actin Dynamics and microRNAs in Vascular Smooth Muscle.
Alajbegovic A et al.
Frontiers in Physiology, 2017
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang H et al.
Scientific Reports, 2016
The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease.
Georgescu MM et al.
Acta Neuropathologica Communications, 2015
Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin.
Lu H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.
Regalado ES et al.
Circulation. Cardiovascular Genetics, 2015
Acute aortic dissections with pregnancy in women with ACTA2 mutations.
Regalado ES et al.
American Journal of Medical Genetics. Part A, 2014
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
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
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