Associated Papers
Genotype-Phenotype Correlations, Mortality, and Clinical Insights in Keratitis-Ichthyosis-Deafness Syndrome: A Comprehensive Review and Case Report.
Patrón-Romero L et al.
American Journal of Medical Genetics. Part A, 2025
Mathematical model of voltage gating of unapposed connexin hemichannels.
Snipas M et al.
The Journal of Physiology, 2025
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
Calcium Regulation of Connexin Hemichannels.
Bayraktar E et al.
International Journal of Molecular Sciences, 2024
Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.
Mc Lean K et al.
Ophthalmic Genetics, 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
Keratitis-ichthyosis-deafness syndrome and hidradenitis suppurativa.
Travis L et al.
Jaad Case Reports, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Antibody gene transfer treatment drastically improves epidermal pathology in a keratitis ichthyosis deafness syndrome model using male mice.
Peres C et al.
Ebiomedicine, 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
Keratitis-ichthyosis-deafness syndrome: A comprehensive review of cutaneous and systemic manifestations.
Alsabbagh MM
Pediatric Dermatology, 2023
Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.
Tsai CY et al.
Computational and Structural Biotechnology Journal, 2023
X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels.
Butler J et al.
Frontiers in Cellular Neuroscience, 2023
Conformational changes and CO2-induced channel gating in connexin26.
Brotherton DH et al.
Structure (london, England : 1993), 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
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
Opposing modulation of Cx26 gap junctions and hemichannels by CO2.
Nijjar S et al.
The Journal of Physiology, 2021
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
Clinical, etiopathogenic, and therapeutic aspects of KID syndrome.
Cammarata-Scalisi F et al.
Dermatologic Therapy, 2020
Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome.
Kozhevnikov O et al.
Case Reports in Orthopedics, 2020
Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E.
Lilly E et al.
Journal of Dermatological Science, 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
Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.
Mammano F
Cold Spring Harbor Perspectives in Medicine, 2019
Connexins and Disease.
Delmar M et al.
Cold Spring Harbor Perspectives in Biology, 2018
The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels.
García IE et al.
The Journal of General Physiology, 2018
Human diseases associated with connexin mutations.
Srinivas M et al.
Biochimica Et Biophysica Acta. Biomembranes, 2018
Keratitis-ichthyosis-deafness syndrome accompanied by disseminated cutaneous fungal infection.
Ma H et al.
The Journal of Dermatology, 2017
A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa.
Frew JW et al.
The British Journal of Dermatology, 2017
The NH2 terminus regulates voltage-dependent gating of CALHM ion channels.
Tanis JE et al.
American Journal of Physiology. Cell Physiology, 2017
A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation.
Stanghellini I et al.
Acta Otorhinolaryngologica Italica : Organo Ufficiale Della Societa Italiana Di Otorinolaringologia E Chirurgia Cervico-facciale, 2017
Accessing gap-junction channel structure-function relationships through molecular modeling and simulations.
Villanelo F et al.
Bmc Cell Biology, 2017
Design and Characterization of a Human Monoclonal Antibody that Modulates Mutant Connexin 26 Hemichannels Implicated in Deafness and Skin Disorders.
Xu L et al.
Frontiers in Molecular Neuroscience, 2017
Mechanism of gating by calcium in connexin hemichannels.
Lopez W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
Altered CO2 sensitivity of connexin26 mutant hemichannels in vitro.
de Wolf E et al.
Physiological Reports, 2016
Structural studies of N-terminal mutants of Connexin 26 and Connexin 32 using (1)H NMR spectroscopy.
Batir Y et al.
Archives of Biochemistry and Biophysics, 2016
Syndromic deafness mutations at Asn 14 differentially alter the open stability of Cx26 hemichannels.
Sanchez HA et al.
The Journal of General Physiology, 2016
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.
Dalamón VK et al.
Bmc Medical Genetics, 2016
Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness.
Dalamon V et al.
Pflugers Archiv : European Journal of Physiology, 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
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
Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu.
Rodriguez-Paris J et al.
Peerj, 2016
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
Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine.
Levit NA et al.
The Journal of Investigative Dermatology, 2015