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
Dynamical features of smooth muscle actin pathological mutants: The arginine-257(258)-Cysteine cases.
Chiappori F et al.
Computational and Structural Biotechnology Journal, 2025
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
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
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.
Calderan C et al.
European Journal of Human Genetics : Ejhg, 2024
Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy.
Ceron RH et al.
Science Advances, 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
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
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
Nuclear Smooth Muscle α-actin in Vascular Smooth Muscle Cell Differentiation.
Kwartler CS et al.
Research Square, 2023
A solution to the long-standing problem of actin expression and purification.
Ceron RH et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Clinical and neuroimaging features of a familial pathogenic ACTA2 variant as a model of a vascular neurocristopathy.
Prentice DA et al.
Neuroradiology, 2022
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Kaw A et al.
American Journal of Medical Genetics. Part A, 2022
Nonsurgical treatment of cerebral ischemia associated with ACTA2 cerebral arteriopathy: a case report and literature review.
Muroi A et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2022
Resistance of Acta2R149C/+ mice to aortic disease is associated with defective release of mutant smooth muscle α-actin from the chaperonin-containing TCP1 folding complex.
Chen J et al.
The Journal of Biological Chemistry, 2021
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
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.
Kundishora AJ et al.
Jama Neurology, 2021
Letter to the Editor. Cerebral arteriopathy and the ACTA2 mutation.
Larson AS et al.
Journal of Neurosurgery. Pediatrics, 2021
Cerebral arteriopathy in ACTA2 mutations: a spectrum of disease highlighted by a case of variable penetrance in two siblings.
Tschoe C et al.
Journal of Neurosurgery. Pediatrics, 2021
Actin R256 Mono-methylation Is a Conserved Post-translational Modification Involved in Transcription.
Kumar A et al.
Cell Reports, 2020
Pseudo-obstruction-inducing ACTG2R257C alters actin organization and function.
Hashmi SK et al.
Jci Insight, 2020
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
Genetics of Thoracic and Abdominal Aortic Diseases.
Pinard A et al.
Circulation Research, 2019
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
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
ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke.
Cuoco JA et al.
Cerebrovascular Diseases (basel, Switzerland), 2018
Tropomyosin Must Interact Weakly with Actin to Effectively Regulate Thin Filament Function.
Rynkiewicz MJ et al.
Biophysical Journal, 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
Vascular disease-causing mutation, smooth muscle α-actin R258C, dominantly suppresses functions of α-actin in human patient fibroblasts.
Liu Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Loss of Smooth Muscle α-Actin Leads to NF-κB-Dependent Increased Sensitivity to Angiotensin II in Smooth Muscle Cells and Aortic Enlargement.
Chen J et al.
Circulation Research, 2017
Regulation of microRNA expression in vascular smooth muscle by MRTF-A and actin polymerization.
Alajbegovic A et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 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
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 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
Genetics of hereditary large vessel diseases.
Morisaki T et al.
Journal of Human Genetics, 2016
Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure.
Karimi A et al.
The Canadian Journal of Cardiology, 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
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
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
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
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
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