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
Computational structural analysis sheds light on the molecular grammar of gap junction proteins.
Pathak A et al.
Biochimie, 2025
Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea.
Leoncio JC et al.
Human Genetics, 2025
Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.
Yasarbas SS et al.
Frontiers in Physiology, 2024
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 2023
4-octyl itaconate improves the viability of D66H cells by regulating the KEAP1-NRF2-GCLC/HO-1 pathway.
Chen Y et al.
Journal of Cellular and Molecular Medicine, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Low dose TGF-β1 can improve vohwinkel syndrome by promoting the proliferation of keratinocytes.
Ling X et al.
Acta Histochemica, 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
Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness.
Tian X et al.
Frontiers in Genetics, 2022
Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?
Peracchia C
International Journal of Molecular Sciences, 2021
Japanese guidelines for the management of palmoplantar keratoderma.
Yoneda K et al.
The Journal of Dermatology, 2021
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.
Maslova EA et al.
Biomolecules, 2021
Homozygous promoter variant of SLC45A2 causes diverse hair color and patterns.
Hida T et al.
The Journal of Dermatology, 2020
Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case.
Ikeda K et al.
The Journal of Dermatology, 2020
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
Cryo-EM structure of human Cx31.3/GJC3 connexin hemichannel.
Lee HJ et al.
Science Advances, 2020
Connexin 43 Mutations Lead to Increased Hemichannel Functionality in Skin Disease.
Cocozzelli AG et al.
International Journal of Molecular Sciences, 2019
A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
Easton JA et al.
Experimental Dermatology, 2019
Assessment of Gap Junction Protein Beta-2 rs3751385 Gene Polymorphism in Psoriasis Vulgaris.
Stylianaki EA et al.
Journal of Clinical Medicine Research, 2019
Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.
Mammano F
Cold Spring Harbor Perspectives in Medicine, 2019
G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome.
Xie MX et al.
The Journal of Dermatology, 2019
Structure and Function of Cochlear Gap Junctions and Implications for the Translation of Cochlear Gene Therapies.
Wu X et al.
Frontiers in Cellular Neuroscience, 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
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Chen K et al.
Journal of Clinical Laboratory Analysis, 2018
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
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
Gruber R et al.
The Journal of Investigative Dermatology, 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
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
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.
Dalamón VK et al.
Bmc Medical Genetics, 2016
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
Connexin channels in congenital skin disorders.
Lilly E et al.
Seminars in Cell & Developmental Biology, 2016
Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.
Shuja Z et al.
The Journal of Investigative Dermatology, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Connexins and gap junctions in the inner ear--it's not just about K⁺ recycling.
Jagger DJ et al.
Cell and Tissue Research, 2015
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 2015
Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.
Martin PE et al.
Cell and Tissue Research, 2015
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.
Berger AC et al.
Journal of Cell Science, 2014
Overview of skin diseases linked to connexin gene mutations.
Avshalumova L et al.
International Journal of Dermatology, 2014
Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss.
Sanchez HA et al.
Frontiers in Cellular Neuroscience, 2014
Connecting with connexins.
Williams P et al.
The Australasian Journal of Dermatology, 2013
Structural basis for the selective permeability of channels made of communicating junction proteins.
Ek-Vitorin JF et al.
Biochimica Et Biophysica Acta, 2013
The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.
Xu J et al.
Biochimica Et Biophysica Acta, 2013
Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss.
Hashemi SB et al.
Molecular Biology Reports, 2012
Connexin 26 (GJB2) mutations in keratitis-ichthyosis-deafness syndrome presenting with squamous cell carcinoma.
Sakabe J et al.
The Journal of Dermatology, 2012
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.
Easton JA et al.
The Journal of Investigative Dermatology, 2012