Associated Papers
Cx31.1 can selectively intermix with co-expressed connexins to facilitate its assembly into gap junctions.
Leighton SE et al.
Journal of Cell Science, 2024
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
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
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
Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China.
Qi M et al.
Birth Defects Research, 2021
Embryology, Malformations, and Rare Diseases of the Cochlea.
Warnecke A et al.
Laryngo- Rhino- Otologie, 2021
Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.
Bedoukian EC et al.
Molecular Genetics & Genomic Medicine, 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
G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome.
Xie MX et al.
The Journal of Dermatology, 2019
Connexin43 mutations linked to skin disease have augmented hemichannel activity.
Srinivas M et al.
Scientific Reports, 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
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
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
[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
Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss.
Sanchez HA et al.
Frontiers in Cellular Neuroscience, 2014
Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis.
Scheinfeld N
Dermatology Online Journal, 2013
Connexins in epidermal homeostasis and skin disease.
Scott CA et al.
Biochimica Et Biophysica Acta, 2012
Differential susceptibility of Cx26 mutations associated with epidermal dysplasias to peptidoglycan derived from Staphylococcus aureus and Staphylococcus epidermidis.
Donnelly S et al.
Experimental Dermatology, 2012
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
Iossa S et al.
Current Genomics, 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
Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
Lee JY et al.
Journal of Korean Medical Science, 2010
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
Birkenhäger R et al.
American Journal of Medical Genetics. Part A, 2010
Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome.
Sánchez HA et al.
The Journal of General Physiology, 2010
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
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.
Iossa S et al.
American Journal of Medical Genetics. Part A, 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
Gap-junction channels dysfunction in deafness and hearing loss.
Martínez AD et al.
Antioxidants & Redox Signaling, 2009
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
de Zwart-Storm EA et al.
The American Journal of Pathology, 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
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
Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).
Bousfiha A et al.
Current Research in Translational Medicine, 0