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
Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44.
Gong D et al.
The Journal of General Physiology, 2025
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
Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43.
Zong YJ et al.
International Journal of Molecular Sciences, 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 Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.
García IE et al.
The Journal of Investigative Dermatology, 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
The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.
Xu J et al.
Biochimica Et Biophysica Acta, 2013
Critical role of the first transmembrane domain of Cx26 in regulating oligomerization and function.
Jara O et al.
Molecular Biology of the Cell, 2012
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
del Castillo FJ et al.
Frontiers in Bioscience (landmark Edition), 2011
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
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Hoang Dinh E et al.
Brain Research, 2009
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
Primignani P et al.
Genetic Testing and Molecular Biomarkers, 2009
Gap-junction channels dysfunction in deafness and hearing loss.
Martínez AD et al.
Antioxidants & Redox Signaling, 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
A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels.
Stong BC et al.
The Laryngoscope, 2006
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
Tang HY et al.
American Journal of Medical Genetics. Part A, 2006
Deficient membrane integration of the novel p.N14D-GJB2 mutant associated with non-syndromic hearing impairment.
Haack B et al.
Human Mutation, 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