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
Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.
Al-Bustanji R et al.
Medicine, 2025
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
Hypodontia in a child with keratitis-ichthyosis-deafness (KID) syndrome: a case report.
Saleh TS et al.
Journal of Medical Case Reports, 2025
Promotion of Cx26 mutants located in TM4 region for membrane translocation successfully rescued hearing loss.
Zong YJ et al.
Theranostics, 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
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
A possible role for second-hit postzygotic GJB2 mutation in porokeratotic eccrine ostial and dermal duct nevus.
Chang YH et al.
The Journal of Dermatology, 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
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
Conformational changes and CO2-induced channel gating in connexin26.
Brotherton DH et al.
Structure (london, England : 1993), 2022
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 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
Expression of KID syndromic mutation Cx26S17F produces hyperactive hemichannels in supporting cells of the organ of Corti.
Abbott AC et al.
Frontiers in Cell and Developmental Biology, 2022
Unusual cutaneous manifestations and congenital hearing loss in a patient with GJB2 (F142L) mutation.
Cheong SL et al.
Clinical and Experimental Dermatology, 2021
The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.
Bailey RA et al.
International Journal of Molecular Sciences, 2021
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
A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies.
Albuloushi A et al.
Experimental Dermatology, 2020
Clinical, etiopathogenic, and therapeutic aspects of KID syndrome.
Cammarata-Scalisi F et al.
Dermatologic Therapy, 2020
Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg.
Godillot C et al.
Acta Dermato-venereologica, 2019
Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.
Mammano F
Cold Spring Harbor Perspectives in Medicine, 2019
The connexin26 human mutation N14K disrupts cytosolic intersubunit interactions and promotes channel opening.
Valdez Capuccino JM et al.
The Journal of General Physiology, 2019
A novel homozygous mutation of GJB2-A new variant of keratitis-ichthyosis-deafness syndrome?
Hamadah I et al.
Jaad Case Reports, 2019
Calcium interactions with Cx26 hemmichannel: Spatial association between MD simulations biding sites and variant pathogenicity.
Albano JMR et al.
Computational Biology and Chemistry, 2018
Two Cases of Chronic Candidiasis in Keratitis-Ichthyosis-Deafness Syndrome.
Bartenstein D et al.
The American Journal of Dermatopathology, 2018
Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome.
Taki T et al.
Scientific Reports, 2018
The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels.
García IE et al.
The Journal of General Physiology, 2018
Deafness-associated mutation opens the gate to understanding.
Sedwick C
The Journal of General Physiology, 2018
Human diseases associated with connexin mutations.
Srinivas M et al.
Biochimica Et Biophysica Acta. Biomembranes, 2018
Gating of Connexin Channels by transjunctional-voltage: Conformations and models of open and closed states.
Bargiello TA 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
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
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
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.
Del Castillo FJ et al.
Frontiers in Molecular Neuroscience, 2017
Syndromic deafness mutations at Asn 14 differentially alter the open stability of Cx26 hemichannels.
Sanchez HA et al.
The Journal of General Physiology, 2016
Successful treatment of pityriasis lichenoides chronica with narrow-band ultraviolet B therapy in a patient with Keratitis-Ichthyosis-Deafness syndrome: a case report.
Salman A et al.
Dermatology Online Journal, 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