Associated Papers
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.
Frohne A et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2024
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
The actin cytoskeleton in hair bundle development and hearing loss.
Park J et al.
Hearing Research, 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
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
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 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
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Distinct functional interactions between actin isoforms and nonsarcomeric myosins.
Müller M et al.
Plos One, 2013
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