Associated Papers
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.
Dawidziuk M et al.
International Journal of Molecular Sciences, 2022
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.
Sorrentino U et al.
Audiology Research, 2021
Amino acid 118 in the Deafness Causing (DFNA20/26) ACTG1 gene is a Mutational Hot Spot.
Wang L et al.
Gene Reports, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
Wei Q et al.
Journal of Translational Medicine, 2014
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
van Wijk E et al.
Journal of Medical Genetics, 2003
Tropomyosin-binding site(s) on the Dictyostelium actin surface as identified by site-directed mutagenesis.
Saeki K et al.
Biochemistry, 1996
Actomyosin kinetics and in vitro motility of wild-type Drosophila actin and the effects of two mutations in the Act88F gene.
Anson M et al.
Biophysical Journal, 1995
Molecular genetics of actin function.
Hennessey ES et al.
The Biochemical Journal, 1993
The binding of mutant actins to profilin, ATP and DNase I.
Drummond DR et al.
European Journal of Biochemistry, 1992
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