Associated Papers
Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review.
Caragli V et al.
Genes, 2025
A pore locus in the E1 domain differentially regulates Cx26 and Cx30 hemichannel function.
Sanchez HA et al.
The Journal of General Physiology, 2024
A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome.
Huang H et al.
Frontiers of Medicine, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report.
Liao MY et al.
World Journal of Clinical Cases, 2023
Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation.
Murshidi R et al.
Case Reports in Dermatological Medicine, 2023
A case of hidrotic ectodermal dysplasia with developing eccrine syringofibroadenoma with heterozygous mutation of GJB6 gene.
Nishibu A et al.
The Journal of Dermatology, 2022
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
Alopecia, nail dystrophy, and palmoplantar keratoderma in a 7-year-old girl.
Jones ME et al.
Pediatric Dermatology, 2021
A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia.
Zhan Y et al.
Hereditas, 2020
Clouston syndrome with dental anomalies, micropores of hair shafts and absence of palmoplantar keratoderma.
Kantaputra PN et al.
The Journal of Dermatology, 2020
GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family.
Shi X et al.
International Journal of 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
Novel clinical features associated with Clouston syndrome.
Cammarata-Scalisi F et al.
International Journal of Dermatology, 2019
The connexin 30 A88V mutant reduces cochlear gap junction expression and confers long-term protection against hearing loss.
Kelly JJ et al.
Journal of Cell Science, 2019
Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis.
Lu Y et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2018
Permeant-specific gating of connexin 30 hemichannels.
Nielsen BS et al.
The Journal of Biological Chemistry, 2017
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
Yang R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 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
Novel mutations in GJB6 and GJB2 in Clouston syndrome.
Liu YT et al.
Clinical and Experimental Dermatology, 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
Insights on the mechanisms of Ca(2+) regulation of connexin26 hemichannels revealed by human pathogenic mutations (D50N/Y).
Lopez W et al.
The Journal of General Physiology, 2013
The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity.
Mhaske PV et al.
American Journal of Physiology. Cell Physiology, 2013
Connexins in epidermal homeostasis and skin disease.
Scott CA et al.
Biochimica Et Biophysica Acta, 2012
Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome.
Levit NA et al.
Biochimica Et Biophysica Acta, 2012
Clouston syndrome: first case in Russia.
Marakhonov A et al.
Balkan Journal of Medical Genetics : Bjmg, 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
G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family.
Chen N et al.
The Journal of Dermatology, 2010
Connexin-26 mutations in deafness and skin disease.
Lee JR et al.
Expert Reviews in Molecular Medicine, 2009
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss.
Kelly B et al.
International Journal of Dermatology, 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
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
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
Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.
Di WL et al.
Journal of Cell Science, 2005
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.
Jan AY et al.
The Journal of Investigative Dermatology, 2004
Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.
Yotsumoto S et al.
The British Journal of Dermatology, 2003
Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations.
Sanecka A et al.
Brazilian Journal of Otorhinolaryngology, 0
Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation.
Esmer C et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 0
Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.
Khatter S et al.
Indian Journal of Dermatology, 0