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
Structural and functional gastrointestinal abnormalities in ACTA2 R179H mice modeling multisystemic smooth muscle dysfunction syndrome.
Rahman AA et al.
Jci Insight, 2026
Increased plasma fibronectin mirrors intimal phenotypic switching of vascular smooth muscle cells in moyamoya arteriopathy.
Asselman C et al.
Scientific Reports, 2025
Treatment of a severe vascular disease using a bespoke CRISPR-Cas9 base editor in mice.
Alves CRR et al.
Nature Biomedical Engineering, 2025
In vivo Treatment of a Severe Vascular Disease via a Bespoke CRISPR-Cas9 Base Editor.
Alves CRR et al.
Biorxiv : the Preprint Server for Biology, 2024
Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.
Li Q et al.
Frontiers in Pharmacology, 2024
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Kaw A et al.
American Journal of Medical Genetics. Part A, 2022
The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.
Jankovic M et al.
International Journal of Molecular Sciences, 2022
Refractory cerebral infarction in a child with an ACTA2 mutation.
Kanamori K et al.
Brain & Development, 2021
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
Regalado ES et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke.
Cuoco JA et al.
Cerebrovascular Diseases (basel, Switzerland), 2018
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