Associated Papers
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.
Di Donato N et al.
American Journal of Human Genetics, 2026
Immune-related actinopathies at the cross-road of immunodeficiency, autoimmunity and autoinflammation.
Dupré L et al.
Nature Reviews. Immunology, 2025
40931027 (PubMed )
Supplement: 41577_2025_1214_MOESM1_ESM.pdf
Structural and functional mechanisms of actin isoforms.
Heissler SM et al.
The Febs Journal, 2025
Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB.
Tsujimoto T et al.
Human Molecular Genetics, 2024
Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics.
Greve JN et al.
European Journal of Cell Biology, 2022
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