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
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Ozgur Z et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.
Frohne A et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
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
Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.
Tsai CY et al.
Computational and Structural Biotechnology Journal, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA et al.
Journal of Personalized Medicine, 2022
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 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
GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population.
Reis CS et al.
Acta Medica Portuguesa, 2021
Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.
Wang J et al.
Scientific Reports, 2021
Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.
Xie L et al.
Neural Plasticity, 2021
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV et al.
Journal of Personalized Medicine, 2020
Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana.
Adadey SM et al.
Genes, 2020
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.
Wu CC et al.
Genes, 2019
Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.
Naddafnia H et al.
Molecular Genetics & Genomic Medicine, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families.
Sang S et al.
Frontiers in Genetics, 2019
Calcium interactions with Cx26 hemmichannel: Spatial association between MD simulations biding sites and variant pathogenicity.
Albano JMR et al.
Computational Biology and Chemistry, 2018
Settling the score: variant prioritization and Mendelian disease.
Eilbeck K et al.
Nature Reviews. Genetics, 2017
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
A novel dominant GJB2 (DFNA3) mutation in a Chinese family.
Wang H et al.
Scientific Reports, 2017
Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.
Pavithra A et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2017
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 2016
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
Mikstiene V et al.
Bmc Genetics, 2016
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.
Chakchouk I et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
Wu CM et al.
Plos One, 2015
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
A Novel De Novo Dominant Mutation in GJB2 Gene Associated with a Sporadic Case of Nonsyndromic Sensorineural Hearing Loss.
Onsori H et al.
Iranian Journal of Public Health, 2014
[The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype].
Huang S et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2014
R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma.
Jiang SJ et al.
International Journal of Pediatric Otorhinolaryngology, 2014
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.
Bonyadi MJ et al.
International Journal of Pediatric Otorhinolaryngology, 2014
Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.
Riahi Z et al.
International Journal of Pediatric Otorhinolaryngology, 2013
Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.
Huang S et al.
Acta Oto-laryngologica, 2013
Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss.
Battelino S et al.
The Journal of Laryngology and Otology, 2012
De novo dominant mutation of GJB2 in two Chinese families with nonsyndromic hearing loss.
Huang S et al.
International Journal of Pediatric Otorhinolaryngology, 2011
Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.
Zhang J et al.
Molecular and Cellular Neurosciences, 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
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
Causes of hearing impairment in the Norwegian paediatric cochlear implant program.
Siem G et al.
International Journal of Audiology, 2010
Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.
Yum SW et al.
Neurobiology of Disease, 2010
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.
Bonyadi M et al.
Genetic Testing and Molecular Biomarkers, 2009