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
Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.
Wagner JT et al.
Frontiers in Molecular Biosciences, 2025
41158875 (PubMed )
Supplement: DataSheet1.xlsx › C
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
Actin R256 Mono-methylation Is a Conserved Post-translational Modification Involved in Transcription.
Kumar A et al.
Cell Reports, 2020
32997990 (PubMed )
Supplement: NIHMS1775293-supplement-supplemental_material.pdf
Actin Mutations and Their Role in Disease.
Parker F et al.
International Journal of Molecular Sciences, 2020
32397632 (PubMed )
Supplement: ijms-21-03371-s001.pdf
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