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
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome.
Prabhu S et al.
World Journal for Pediatric & Congenital Heart Surgery, 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
Molecular Regulation of Arterial Aneurysms: Role of Actin Dynamics and microRNAs in Vascular Smooth Muscle.
Alajbegovic A et al.
Frontiers in Physiology, 2017
MAT2A mutations predispose individuals to thoracic aortic aneurysms.
Guo DC et al.
American Journal of Human Genetics, 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
High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.
Kathiravel U et al.
Molecular and Cellular Probes, 2013
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
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