Associated Papers
Dilated cardiomyopathy-associated skeletal muscle actin (ACTA1) mutation R256H disrupts actin structure and function and causes cardiomyocyte hypocontractility.
Garg A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Structural dynamics of the intrinsically disordered linker region of cardiac troponin T.
Cubuk J et al.
Biorxiv : the Preprint Server for Biology, 2024
Dilated cardiomyopathy-associated skeletal muscle actin (ACTA1) mutation R256H disrupts actin structure and function and causes cardiomyocyte hypocontractility.
Garg A et al.
Biorxiv : the Preprint Server for Biology, 2024
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Hgg Advances, 2023
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
A new mutation in the ACTA1 gene possibly associated with dilated cardiomyopathy without concomitant myopathy.
Díaz Expósito A et al.
Revista Espanola De Cardiologia (english Ed.), 2022
Actin Mutations and Their Role in Disease.
Parker F et al.
International Journal of Molecular Sciences, 2020
Genomic Profiling of Biliary Tract Cancer Cell Lines Reveals Molecular Subtypes and Actionable Drug Targets.
Lau DK et al.
Iscience, 2019
ACTA1 Novel Likely Pathogenic Variant in a Family With Dilated Cardiomyopathy.
Reza N et al.
Circulation. Genomic and Precision Medicine, 2018
Insights into the effects of disease-causing mutations in human actins.
Rubenstein PA et al.
Cytoskeleton (hoboken, N.j.), 2014
Thoracic aortic aneurysm (TAAD)-causing mutation in actin affects formin regulation of polymerization.
Malloy LE et al.
The Journal of Biological Chemistry, 2012
Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene.
Haigh SE et al.
Neuromuscular Disorders : Nmd, 2010
Phenotypes induced by NM causing alpha-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes.
Vandamme D et al.
Bmc Research Notes, 2009
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
Wallgren-Pettersson C et al.
Neuromuscular Disorders : Nmd, 2004
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
Sparrow JC et al.
Neuromuscular Disorders : Nmd, 2003
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak KJ et al.
Nature Genetics, 1999