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
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
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
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
Characteristic Cerebrovascular Findings Associated with ACTA2 Gene Mutations.
Zhang A et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2019
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