Associated Papers
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
Keratitis-ichthyosis-deafness syndrome: A comprehensive review of cutaneous and systemic manifestations.
Alsabbagh MM
Pediatric Dermatology, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Unusual cutaneous manifestations and congenital hearing loss in a patient with GJB2 (F142L) mutation.
Cheong SL et al.
Clinical and Experimental Dermatology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies.
Albuloushi A et al.
Experimental Dermatology, 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
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.
Guerra L et al.
Acta Dermato-venereologica, 2019
Assessment of Gap Junction Protein Beta-2 rs3751385 Gene Polymorphism in Psoriasis Vulgaris.
Stylianaki EA et al.
Journal of Clinical Medicine Research, 2019
A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation.
Stanghellini I et al.
Acta Otorhinolaryngologica Italica : Organo Ufficiale Della Societa Italiana Di Otorinolaringologia E Chirurgia Cervico-facciale, 2017
From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome.
García IE et al.
The Journal of Investigative Dermatology, 2016
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.
Chen T et al.
Annals of Human Genetics, 2014
Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss.
Sanchez HA et al.
Frontiers in Cellular Neuroscience, 2014
Connexins in epidermal homeostasis and skin disease.
Scott CA et al.
Biochimica Et Biophysica Acta, 2012
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
Iossa S et al.
Current Genomics, 2011
Metastatic squamous cell carcinoma of the oropharynx in a child with a mutation in the Connexin 26 gene.
Rednam S et al.
Journal of Pediatric Hematology/oncology, 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
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
A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma.
Yuan Y et al.
American Journal of Medical Genetics. Part A, 2009
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls.
Tang HY et al.
American Journal of Medical Genetics. Part A, 2008
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
de Zwart-Storm EA et al.
Journal of Medical Genetics, 2008
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
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
Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin.
Bondeson ML et al.
Acta Dermato-venereologica, 2006
A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness.
Brown CW et al.
The Journal of Investigative Dermatology, 2003
Cochlear nerve size evaluation in children with sensorineural hearing loss by high-resolution magnetic resonance imaging.
Russo EE et al.
American Journal of Otolaryngology, 0
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?
Lazic T et al.
Pediatric Dermatology, 0
An unusual mucocutaneous syndrome with sensorineural deafness due to connexin 26 mutations.
Ibáñez MM et al.
Pediatric Dermatology, 0