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
Smooth Muscle Dysfunction Drives Cerebrovascular Reserve Failure and End-Organ Brain Injury.
Imai T et al.
Biorxiv : the Preprint Server for Biology, 2026
Structural and functional gastrointestinal abnormalities in ACTA2 R179H mice modeling multisystemic smooth muscle dysfunction syndrome.
Rahman AA et al.
Jci Insight, 2026
Molecular and multimodal biomarkers in Moyamoya disease: from pathogenic mechanisms to clinical translation.
Li J et al.
European Journal of Medical Research, 2026
Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo-obstruction: A case series.
Wolfson S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2026
Expanded noninvasive prenatal screening for dominant single-gene disorders: proof-of-concept, performance, and challenges.
Chen S et al.
American Journal of Obstetrics and Gynecology, 2025
Dysregulated smooth muscle cell proliferation and gene expression underlie ACTA2 variant-associated aortopathy.
Pepin ME et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2025
Treatment of a severe vascular disease using a bespoke CRISPR-Cas9 base editor in mice.
Alves CRR et al.
Nature Biomedical Engineering, 2025
Genomic Editing of a Pathogenic Sequence Variant in ACTA2 Rescues Multisystemic Smooth Muscle Dysfunction Syndrome in Mice.
Ding Q et al.
Circulation, 2025
Immature Acta2R179C/+ smooth muscle cells cause moyamoya-like cerebrovascular lesions in mice prevented by boosting OXPHOS.
Kaw A et al.
Nature Communications, 2025
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