Associated Papers
Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.
Pan X et al.
Journal of Molecular Medicine (berlin, Germany), 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
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
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
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
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.
Buonfiglio PI et al.
Scientific Reports, 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
Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss.
Miyajima H et al.
Scientific Reports, 2020
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
Actin Post-translational Modifications: The Cinderella of Cytoskeletal Control.
Varland S et al.
Trends in Biochemical Sciences, 2019
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
Two Deafness-Causing Actin Mutations (DFNA20/26) Have Allosteric Effects on the Actin Structure.
Jepsen L et al.
Biophysical Journal, 2016
Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.
Yuan Y et al.
Bmc Genetics, 2016
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
Mori K et al.
Plos One, 2016
Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.
Iwasa YI et al.
Plos One, 2016
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
Nishio SY et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
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
Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.
Nishio SY et al.
Genetic Testing and Molecular Biomarkers, 2015
Insights into the effects of disease-causing mutations in human actins.
Rubenstein PA et al.
Cytoskeleton (hoboken, N.j.), 2014
Distinct functional interactions between actin isoforms and nonsarcomeric myosins.
Müller M et al.
Plos One, 2013
Two deafness-causing (DFNA20/26) actin mutations affect Arp2/3-dependent actin regulation.
Kruth KA et al.
The Journal of Biological Chemistry, 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