Associated Papers
A Survey of Predicted Protein-Protein Interactions Involving Disordered Regions in Humans.
Pei J et al.
Journal of Molecular Biology, 2026
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
Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.
Ghiselli S et al.
Journal of Clinical Medicine, 2024
Responsiveness of the electrically stimulated cochlear nerve in patients with a missense variant in ACTG1: Preliminary Results.
Yuan Y et al.
Frontiers in Audiology and Otology, 2023
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
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
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
Insights into the effects of disease-causing mutations in human actins.
Rubenstein PA et al.
Cytoskeleton (hoboken, N.j.), 2014
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.
Johnston JJ et al.
Human Mutation, 2013
Distinct functional interactions between actin isoforms and nonsarcomeric myosins.
Müller M et al.
Plos One, 2013
Familial visceral myopathies: from symptom-based syndromes to actin-related diseases.
Rubenstein PA et al.
Gastroenterology, 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
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
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
Rendtorff ND et al.
European Journal of Human Genetics : Ejhg, 2006
Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.
Bryan KE et al.
The Journal of Biological Chemistry, 2006