Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report.
Zhong S et al.
The Journal of Dermatological Treatment, 2024
Calcium Regulation of Connexin Hemichannels.
Bayraktar E et al.
International Journal of Molecular Sciences, 2024
Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.
Yasarbas SS et al.
Frontiers in Physiology, 2024
Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43.
Zong YJ et al.
International Journal of Molecular Sciences, 2023
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
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
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
Alopecia, nail dystrophy, and palmoplantar keratoderma in a 7-year-old girl.
Jones ME et al.
Pediatric Dermatology, 2021
A novel voltage-clamp/dye uptake assay reveals saturable transport of molecules through CALHM1 and connexin channels.
Gaete PS et al.
The Journal of General Physiology, 2020
A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia.
Zhan Y et al.
Hereditas, 2020
A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.
Kuang Y et al.
Ebiomedicine, 2020
Clouston syndrome with dental anomalies, micropores of hair shafts and absence of palmoplantar keratoderma.
Kantaputra PN et al.
The Journal of Dermatology, 2020
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
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
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
Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.
Mittal R et al.
Gene, 2018
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
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.
Abou Tayoun AN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Connexin channels in congenital skin disorders.
Lilly E et al.
Seminars in Cell & Developmental Biology, 2016
Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.
Pandey N et al.
Annals of Human Genetics, 2016
Connexin hemichannels influence genetically determined inflammatory and hyperproliferative skin diseases.
Levit NA et al.
Pharmacological Research, 2015
Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.
Kutkowska-Kaźmierczak A et al.
Journal of Applied Genetics, 2015
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 2015
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Mutations in GJB6 causing phenotype resembling pachyonychia congenita.
Hale GI et al.
The British Journal of Dermatology, 2015
Diseases associated with leaky hemichannels.
Retamal MA et al.
Frontiers in Cellular Neuroscience, 2015
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.
Svendsen T et al.
Acta Dermato-venereologica, 2014
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
Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel function.
Sun Y et al.
Plos One, 2014
Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.
Fasciani I et al.
Neuropharmacology, 2013
[Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].
Liu N et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013
Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.
Mousumi T et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 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
GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63.
Fujimoto A et al.
Journal of Dermatological Science, 2013
[High-throughout detection and analysis of drug-resistance gene mutation for 2465 cases with chronic hepatitis B in Shenzhen].
Chen YY et al.
Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi = Zhonghua Shiyan He Linchuang Bingduxue Zazhi = Chinese Journal of Experimental and Clinical Virology, 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
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
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
Mutations in connexin genes and disease.
Pfenniger A et al.
European Journal of Clinical Investigation, 2011