Associated Papers
GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss.
Cheng H et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Dominant effect of a single amino acid mutation in the motor domain of myosin VI on hearing in mice.
Seki Y et al.
Experimental Animals, 2025
Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.
Perez SM et al.
Journal of Developmental Biology, 2025
Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.
Raghuvanshi R et al.
Genetic Testing and Molecular Biomarkers, 2024
Advances in cochlear gene therapies.
Klimara MJ et al.
Current Opinion in Pediatrics, 2023
Functional and developmental changes in the inner hair cell ribbon synapses caused by Myosin VI knockout and deafness-inducing point mutation.
Yin N et al.
Cell Death Discovery, 2023
Rescue of autosomal dominant hearing loss by in vivo delivery of mini dCas13X-derived RNA base editor.
Xiao Q et al.
Science Translational Medicine, 2022
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
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.
Mutai H et al.
Orphanet Journal of Rare Diseases, 2022
Gene editing in a Myo6 semi-dominant mouse model rescues auditory function.
Xue Y et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2022
High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss.
Frohne A et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2021
Myosins and Disease.
Coluccio LM
Advances in Experimental Medicine and Biology, 2020
A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern.
Wang J et al.
Hearing Research, 2019
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
Kim BJ et al.
The Journal of Gene Medicine, 2018
Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
Sampaio-Silva J et al.
Annals of Human Genetics, 2018
Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature.
Talebi F et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.
Dai Z et al.
European Journal of Medical Genetics, 2017
Loss of cargo binding in the human myosin VI deafness mutant (R1166X) leads to increased actin filament binding.
Arden SD et al.
The Biochemical Journal, 2016
Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics.
Miyagawa M et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.
Cheng J et al.
Annals of Human Genetics, 2014
The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.
Kwon TJ et al.
Open Biology, 2014
Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis.
Oonk AM et al.
Hearing Research, 2013
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
Bonaglia MC et al.
European Journal of Human Genetics : Ejhg, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.
Topsakal V et al.
Audiology & Neuro-otology, 2010
Loss of myosin VI no insert isoform (NoI) induces a defect in clathrin-mediated endocytosis and leads to caveolar endocytosis of transferrin receptor.
Puri C
The Journal of Biological Chemistry, 2009
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.
Hilgert N et al.
European Journal of Human Genetics : Ejhg, 2008
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
Sanggaard KM et al.
American Journal of Medical Genetics. Part A, 2008
Human deafness mutation of myosin VI (C442Y) accelerates the ADP dissociation rate.
Sato O et al.
The Journal of Biological Chemistry, 2004
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6).
Mohiddin SA et al.
Journal of Medical Genetics, 2004
Mutations of MYO6 are associated with recessive deafness, DFNB37.
Ahmed ZM et al.
American Journal of Human Genetics, 2003
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
Melchionda S et al.
American Journal of Human Genetics, 2001