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
Generation of induced pluripotent stem cell lines from patients with thoracic aortic aneurysm carrying the ACTA2 gene mutation.
Liu TD et al.
Stem Cell Research, 2025
A Dual Challenge: Coxiella burnetii Endocarditis in a Patient with Familial Thoracic Aortic Aneurysm-Case Report and Literature Review.
Cozlac AR et al.
Journal of Clinical Medicine, 2024
Dilated cardiomyopathy-associated skeletal muscle actin (ACTA1) mutation R256H disrupts actin structure and function and causes cardiomyocyte hypocontractility.
Garg A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Asian Screening Array and Next-Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis.
Ren J et al.
Prenatal Diagnosis, 2024
Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines.
Kim SW et al.
Annals of Laboratory Medicine, 2024
Dilated cardiomyopathy-associated skeletal muscle actin (ACTA1) mutation R256H disrupts actin structure and function and causes cardiomyocyte hypocontractility.
Garg A et al.
Biorxiv : the Preprint Server for Biology, 2024
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
A familial missense ACTA2 variant p.Arg198Cys leading to Moyamoya-like arteriopathy with straight course of the intracranial arteries, aortic aneurysm and lethal aortic dissection.
Focke JK et al.
Neurological Research and Practice, 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
Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report.
Zeng Y et al.
Frontiers in Cardiovascular Medicine, 2022
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.
Kundishora AJ et al.
Jama Neurology, 2021
Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD).
Diness BR et al.
Journal of the Neurological Sciences, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke.
Cuoco JA et al.
Cerebrovascular Diseases (basel, Switzerland), 2018
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
Severe Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin.
Lu H et al.
The Journal of Biological Chemistry, 2016
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang H et al.
Scientific Reports, 2016
Genetics of hereditary large vessel diseases.
Morisaki T et al.
Journal of Human Genetics, 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
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).
Tuzovic L et al.
Fetal Diagnosis and Therapy, 2015
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
Thoracic aortic aneurysm (TAAD)-causing mutation in actin affects formin regulation of polymerization.
Malloy LE et al.
The Journal of Biological Chemistry, 2012
Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.
Regalado E et al.
American Journal of Medical Genetics. Part A, 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
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
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
Guo DC et al.
Nature Genetics, 2007
α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies.
Yuan SM
Brazilian Journal of Cardiovascular Surgery, 0