Associated Papers
GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.
Morris JA et al.
International Journal of Molecular Sciences, 2026
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Ozgur Z et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Genetic Basis of Hearing Loss in Mongolian Patients: A Next-Generation Sequencing Study.
Gombojav B et al.
Genes, 2024
Calcium Regulation of Connexin Hemichannels.
Bayraktar E et al.
International Journal of Molecular Sciences, 2024
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
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss.
Xiang J et al.
Human Genetics, 2023
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients.
Le Nabec A et al.
Genes, 2021
Development of in-house genetic screening for pediatric hearing loss.
Doerfer KW et al.
Laryngoscope Investigative Otolaryngology, 2020
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.
Del Castillo FJ et al.
Frontiers in Molecular Neuroscience, 2017
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
Kim HR et al.
Human Genetics, 2016
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.
Qing J et al.
Genetic Testing and Molecular Biomarkers, 2015
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
[Mutation screening in taperin gene in Chinese with prelingual nonsyndromic hearing impairment].
Wang Q et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2014
Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.
Fasciani I et al.
Neuropharmacology, 2013
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
del Castillo FJ et al.
Frontiers in Bioscience (landmark Edition), 2011
GJB2 allele variants and the associated audiologic features identified in Chinese patients with less severe idiopathic hearing loss.
Zhang J et al.
Genetic Testing and Molecular Biomarkers, 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
The controversial p.Arg127His mutation in GJB2: report on three Portuguese hearing loss family cases.
Matos TD et al.
Genetic Testing and Molecular Biomarkers, 2010
GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.
Bartsch O et al.
Audiology & Neuro-otology, 2010
Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.
Todt I et al.
Clinical Genetics, 2009
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
Choi SY et al.
Human Mutation, 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
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
Dai P et al.
Journal of Translational Medicine, 2009
The genetic bases for non-syndromic hearing loss among Chinese.
Ouyang XM et al.
Journal of Human Genetics, 2009
GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.
Guo YF et al.
Acta Oto-laryngologica, 2008
[Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China].
Li Q et al.
Zhonghua Yi Xue Za Zhi, 2007
[Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population].
Tian G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007
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
A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels.
Stong BC et al.
The Laryngoscope, 2006
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
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
Azaiez H et al.
Human Mutation, 2004
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
Tsukamoto K et al.
European Journal of Human Genetics : Ejhg, 2003
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A et al.
Human Genetics, 2003
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.
Ferraris A et al.
Human Mutation, 2002
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
Prasad S 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