Associated Papers
The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins.
Greve JN et al.
Elife, 2024
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
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.
Sorrentino U et al.
Audiology Research, 2021
Prevalence of Cytoplasmic Actin Mutations in Diffuse Large B-Cell Lymphoma and Multiple Myeloma: A Functional Assessment Based on Actin Three-Dimensional Structures.
Witjes L et al.
International Journal of Molecular Sciences, 2020
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Lee CG et al.
Molecular Medicine Reports, 2018
Amino acid 118 in the Deafness Causing (DFNA20/26) ACTG1 gene is a Mutational Hot Spot.
Wang L et al.
Gene Reports, 2018
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Di Donato N et al.
American Journal of Medical Genetics. Part A, 2016
Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.
Yuan Y et al.
Bmc Genetics, 2016
Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.
Miyagawa M et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Rapid nucleotide exchange renders Asp-11 mutant actins resistant to depolymerizing activity of cofilin, leading to dominant toxicity in vivo.
Umeki N et al.
The Journal of Biological Chemistry, 2013
Distinct functional interactions between actin isoforms and nonsarcomeric myosins.
Müller M et al.
Plos One, 2013
Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment.
Shearer AE et al.
Bmc Genomics, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Rivière JB et al.
Nature Genetics, 2012
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
Morín M et al.
Human Molecular Genetics, 2009
Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction.
Bryan KE et al.
The Journal of Biological Chemistry, 2009
Edgetic perturbation models of human inherited disorders.
Zhong Q et al.
Molecular Systems Biology, 2009
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.
Liu P et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2008
Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.
Bryan KE et al.
The Journal of Biological Chemistry, 2006
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
Zhu M et al.
American Journal of Human Genetics, 2003