Associated Papers
Molecular insights into genodermatoses: Genetic findings from 43 patients.
Sama AD et al.
Archives of Dermatological Research, 2025
Syndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory Pigmentary Disorders.
Ghosh S et al.
Ear, Nose, & Throat Journal, 2024
A fully human IgG1 antibody targeting connexin 32 extracellular domain blocks CMTX1 hemichannel dysfunction in an in vitro model.
Tettey-Matey A et al.
Cell Communication and Signaling : Ccs, 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
Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank.
Lewis MA et al.
Bmc Biology, 2022
Cellular mechanisms of connexin-based inherited diseases.
Laird DW et al.
Trends in Cell Biology, 2022
Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome.
Sellitto C et al.
Scientific Reports, 2021
Alopecia, nail dystrophy, and palmoplantar keratoderma in a 7-year-old girl.
Jones ME et al.
Pediatric Dermatology, 2021
Mutant Cx30-A88V mice exhibit hydrocephaly and sex-dependent behavioral abnormalities, implicating a functional role for Cx30 in the brain.
Novielli-Kuntz NM et al.
Disease Models & Mechanisms, 2021
Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss.
Hu S et al.
F1000research, 2021
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
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
First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.
Özyılmaz B et al.
Turkish Archives of Otorhinolaryngology, 2019
Novel clinical features associated with Clouston syndrome.
Cammarata-Scalisi F et al.
International Journal of Dermatology, 2019
Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro.
Cook J et al.
Royal Society Open Science, 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
Therapeutic strategies targeting connexins.
Laird DW et al.
Nature Reviews. Drug Discovery, 2018
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
A connexin30 mutation rescues hearing and reveals roles for gap junctions in cochlear amplification and micromechanics.
Lukashkina VA et al.
Nature Communications, 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
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
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
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
Novel mutations in GJB6 and GJB2 in Clouston syndrome.
Liu YT et al.
Clinical and Experimental Dermatology, 2015
Connexin hemichannels influence genetically determined inflammatory and hyperproliferative skin diseases.
Levit NA et al.
Pharmacological Research, 2015
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 2015
Diseases associated with leaky hemichannels.
Retamal MA et al.
Frontiers in Cellular Neuroscience, 2015
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.
Bosen F et al.
Febs Letters, 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
Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.
Sugiura K et al.
Jama Dermatology, 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
[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