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
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
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
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
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
Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome.
Kozhevnikov O et al.
Case Reports in Orthopedics, 2020
Keratitis-ichthyosis-deafness syndrome accompanied by disseminated cutaneous fungal infection.
Ma H et al.
The Journal of Dermatology, 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
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
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 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
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss.
Sanchez HA et al.
Frontiers in Cellular Neuroscience, 2014
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
Iossa S et al.
Current Genomics, 2011
Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome.
Sánchez HA et al.
The Journal of General Physiology, 2010
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.
Terrinoni A et al.
Biochemical and Biophysical Research Communications, 2010
Analysis of phenotype-genotype connection: the story of dissecting disease pathogenesis in genomic era in China, and beyond.
Shen Y et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2007
Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.
Lazic T et al.
Pediatric Dermatology, 0
Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).
Bousfiha A et al.
Current Research in Translational Medicine, 0