Associated Papers
Analyses of GJB2 status in hereditary and non-syndromic hearing loss cases in Turkey reveal pathogenicity of rare c.247_249delTTC variant.
Tümer S et al.
International Journal of Pediatric Otorhinolaryngology, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Mutation Spectrum of GJB2 in Taiwanese Patients with Sensorineural Hearing Loss: Prevalence, Pathogenicity, and Clinical Implications.
Lin YF et al.
International Journal of Molecular Sciences, 2025
Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.
Rentas S et al.
Human Mutation, 2025
Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.
Zhuri D et al.
The Journal of International Advanced Otology, 2024
Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss.
Namba K et al.
Bmc Research Notes, 2024
Highly efficient, label free, ultrafast plasmonic SERS biosensor (silver nanoarrays/Si) to detect GJB2 gene expressed deafness mutations in real time validated with PCR studies.
A I AlSafadi A et al.
International Journal of Biological Macromolecules, 2024
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 2023
A Chemical Chaperone Restores Connexin 26 Mutant Activity.
Wang D et al.
Acs Pharmacology & Translational Science, 2023
Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.
Aliazami F et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness.
Vila-Sanjurjo A et al.
Frontiers in Physiology, 2023
Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.
Markova T et al.
Journal of Personalized Medicine, 2022
Analysis of Genetic Variations in Connexin 26 ( GJB2 ) Gene among Nonsyndromic Hearing Impairment: Familial Study.
Hegde S et al.
Global Medical Genetics, 2022
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.
Abbaspour Rodbaneh E et al.
Journal of Clinical Laboratory Analysis, 2021
GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population.
Reis CS et al.
Acta Medica Portuguesa, 2021
Molecular alteration in the Gap Junction Beta 2 (GJB2) gene associated with non-syndromic sensorineural hearing impairment.
Hegde S et al.
Intractable & Rare Diseases Research, 2021
Genetics of Hearing Impairment in North-Eastern Romania-A Cost-Effective Improved Diagnosis and Literature Review.
Resmerita I et al.
Genes, 2020
Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.
Aliazami F et al.
Iranian Journal of Public Health, 2020
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Buonfiglio P et al.
Genes, 2020
Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews.
Falah M et al.
Fetal and Pediatric Pathology, 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
Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.
Kumar V et al.
Case Reports in Ophthalmological Medicine, 2020
Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations.
Koohiyan M et al.
Journal of Audiology & Otology, 2019
Microarray-based screening system identifies temperature-controlled activity of Connexin 26 that is distorted by mutations.
Wang H et al.
Scientific Reports, 2019
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
Schrauwen I et al.
European Journal of Human Genetics : Ejhg, 2019
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
Gap Junction Protein Beta 2 Gene Variants and Non-Syndromic Hearing Impairment among Couples Referred For Prenatal Diagnosis in the Northeast of Iran.
Vojdani S et al.
Iranian Journal of Otorhinolaryngology, 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
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.
Amritkumar P et al.
Bmc Medical Genetics, 2018
Spectrum of GJB2 gene variants in Indian children with non-syndromic hearing loss.
Singh PK et al.
The Indian Journal of Medical Research, 2018
GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.
Koohiyan M et al.
International Journal of Pediatric Otorhinolaryngology, 2018
Wan Du et al. - Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. Acta Oto-Laryngol 2014; 134: 373-381.
Hellström S
Acta Oto-laryngologica, 2018
Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.
Shaikh H et al.
Biochemical Genetics, 2017
Research of genetic bases of hereditary non-syndromic hearing loss.
Subaşıoğlu A et al.
Turk Pediatri Arsivi, 2017
Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
Bliznetz EA et al.
Journal of Human Genetics, 2017
The genetic basis of deafness in populations of African descent.
Rudman JR et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 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
Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene.
Wong SH et al.
International Journal of Medical Sciences, 2017
Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran.
Laleh MA et al.
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2017
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.
Del Castillo FJ et al.
Frontiers in Molecular Neuroscience, 2017
Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.
Beheshtian M et al.
Archives of Iranian Medicine, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
Yang R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe: The Role of the DFNB1 Locus?
Caroça C et al.
Omics : a Journal of Integrative Biology, 2016
Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness.
Banjara H et al.
Indian Journal of Otolaryngology and Head and Neck Surgery : Official Publication of the Association of Otolaryngologists of India, 2016