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
Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.
Yasarbas SS et al.
Frontiers in Physiology, 2024
Novel mutation in cutaneous oncocytoma identified by next-generation sequencing.
Smith SDB et al.
International Journal of Dermatology, 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
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
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
Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case.
Ikeda K et al.
The Journal of 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
Connexin channels in congenital skin disorders.
Lilly E et al.
Seminars in Cell & Developmental Biology, 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
Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.
Kashef A et al.
International Journal of Pediatric Otorhinolaryngology, 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
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
Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis.
Scheinfeld N
Dermatology Online Journal, 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
Connexin 26 (GJB2) mutations in keratitis-ichthyosis-deafness syndrome presenting with squamous cell carcinoma.
Sakabe J et al.
The Journal of Dermatology, 2012
Connexins in epidermal homeostasis and skin disease.
Scott CA et al.
Biochimica Et Biophysica Acta, 2012
G59A mutation in the GJB2 gene in a Taiwanese family with knuckle pads, palmoplantar keratoderma and sensorineural hearing loss.
Chen LH et al.
Clinical and Experimental Dermatology, 2012
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
Iossa S et al.
Current Genomics, 2011
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 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
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.
Nemoto-Hasebe I et al.
The British Journal of Dermatology, 2009
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.
Alexandrino F et al.
American Journal of Medical Genetics. Part A, 2009
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
Connexin 26 mutations in autosomal recessive deafness disorders: a review.
Apps SA et al.
International Journal of Audiology, 2007
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
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.
Alexandrino F et al.
American Journal of Medical Genetics. Part A, 2005
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
Vohwinkel syndrome with de novo heterozygous mutation in the GJB2 gene - c.175G>A (p. Gly59Ser).
Duran-Lemarie MC et al.
Anais Brasileiros De Dermatologia, 0