Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.
Tsai CY et al.
Computational and Structural Biotechnology Journal, 2023
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Buonfiglio P et al.
Genes, 2020
Systematic Review of Pathogenic GJB2 Variants in the Latino Population.
Bouzaher MH et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss.
Martínez-Saucedo M et al.
International Journal of Pediatric Otorhinolaryngology, 2015
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.
Dalamón V et al.
Molecular Biology Reports, 2013
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
del Castillo FJ et al.
Frontiers in Bioscience (landmark Edition), 2011
Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.
Xiao Z et al.
Acta Oto-laryngologica, 2011
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Hoang Dinh E et al.
Brain Research, 2009
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Putcha GV et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
Gardner P et al.
Pediatrics, 2006
Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.
Propst EJ et al.
International Journal of Pediatric Otorhinolaryngology, 2006
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL et al.
American Journal of Human Genetics, 2005
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia.
Gangarossa S et al.
International Journal of Molecular Medicine, 2005
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
Piazza V et al.
Clinical Genetics, 2005
Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.
Beltramello M et al.
Nature Cell Biology, 2005
Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.
Meşe G et al.
Human Genetics, 2004
GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.
Tóth T et al.
Human Mutation, 2004
Molecular epidemiology of DFNB1 deafness in France.
Roux AF et al.
Bmc Medical Genetics, 2004
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A et al.
Human Genetics, 2003
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
Hamelmann C et al.
Human Mutation, 2001
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R et al.
Human Mutation, 2000
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
Kenneson A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0