Associated Papers
Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.
Chen L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Characterizing the spectrum and clinical impact of GJB2 mutations in patients with hearing loss: Insights into genetic variability and phenotypic outcomes.
Akhbari E et al.
International Journal of Pediatric Otorhinolaryngology, 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
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.
Maslova EA et al.
Biomolecules, 2021
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
First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.
Özyılmaz B et al.
Turkish Archives of Otorhinolaryngology, 2019
A novel dominant GJB2 (DFNA3) mutation in a Chinese family.
Wang H et al.
Scientific Reports, 2017
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
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
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
Matos TD et al.
International Journal of Audiology, 2013
The anticipation and inheritance pattern of c.487A>G mutation in the GJB2 gene.
Falah M et al.
Archives of Iranian Medicine, 2012
[Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness].
Bliznets EA et al.
Genetika, 2012
Key functions for gap junctions in skin and hearing.
Scott CA et al.
The Biochemical Journal, 2011
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
Bazazzadegan N et al.
American Journal of Medical Genetics. Part A, 2011
Phenotypes of two Dutch DFNA3 families with mutations in GJB2.
Weegerink NJ et al.
The Annals of Otology, Rhinology, and Laryngology, 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
GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.
Dalamón V et al.
Audiology & Neuro-otology, 2010
Connexin-26 mutations in deafness and skin disease.
Lee JR et al.
Expert Reviews in Molecular Medicine, 2009
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Hoang Dinh E et al.
Brain Research, 2009
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
Liu XZ et al.
Human Genetics, 2009
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
de Zwart-Storm EA et al.
The American Journal of Pathology, 2008
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss.
Matos TD et al.
Hearing Research, 2008
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
Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).
Bousfiha A et al.
Current Research in Translational Medicine, 0