Associated Papers
Methionine metabolite spermidine inhibits tumor pyroptosis by enhancing MYO6-mediated endocytosis.
Wu J et al.
Nature Communications, 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
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 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
Genetic background in late-onset sensorineural hearing loss patients.
Uehara N et al.
Journal of Human Genetics, 2022
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Brunet T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Functional Role of Class III Myosins in Hair Cells.
Cirilo JA et al.
Frontiers in Cell and Developmental Biology, 2021
Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss.
Oka SI et al.
Genes, 2020
Structure of Myosin VI/Tom1 complex reveals a cargo recognition mode of Myosin VI for tethering.
Hu S et al.
Nature Communications, 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
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
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
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
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
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
Mutations of MYO6 are associated with recessive deafness, DFNB37.
Ahmed ZM et al.
American Journal of Human Genetics, 2003