Associated Papers
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.
Kraatari-Tiri M et al.
International Journal of Audiology, 2025
Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing Loss.
Miyanohara I et al.
Genes, 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
Altered Fhod3 expression involved in progressive high-frequency hearing loss via dysregulation of actin polymerization stoichiometry in the cuticular plate.
Boussaty EC et al.
Plos Genetics, 2024
Altered Fhod3 Expression Involved in Progressive High-Frequency Hearing Loss via Dysregulation of Actin Polymerization Stoichiometry in The Cuticular Plate.
Boussaty EC et al.
Biorxiv : the Preprint Server for Biology, 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.
Sorrentino U et al.
Audiology Research, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 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
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
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
Distinct functional interactions between actin isoforms and nonsarcomeric myosins.
Müller M et al.
Plos One, 2013
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