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
Hearing loss and pathological changes in a mouse model harboring Gjb2 p.D50N variant.
Shi X et al.
Neuroscience, 2025
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
Ophthalmologic management in KID syndrome: Long-term clinical experience.
Estévez-Domínguez R et al.
Archivos De La Sociedad Espanola De Oftalmologia, 2025
Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea.
Leoncio JC et al.
Human Genetics, 2025
Connexin Hemichannel Inhibition and Human Genodermatoses.
Mammano F et al.
The Journal of Investigative Dermatology, 2025
Calcium induced N-terminal gating and pore collapse in connexin-46/50 gap junctions.
Flores JA et al.
Biorxiv : the Preprint Server for Biology, 2025
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Ozgur Z et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review.
Caragli V et al.
Genes, 2025
Promotion of Cx26 mutants located in TM4 region for membrane translocation successfully rescued hearing loss.
Zong YJ et al.
Theranostics, 2025
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
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
A pore locus in the E1 domain differentially regulates Cx26 and Cx30 hemichannel function.
Sanchez HA et al.
The Journal of General Physiology, 2024
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
Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies.
Roshandel D et al.
The Ocular Surface, 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
Cochlear implantation in child with keratitis-ichthyosis-deafness syndrome: A case report.
Wang SP et al.
Asian Journal of Surgery, 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
Palmoplantar keratoderma, pseudo-ainhum and knuckle pads in an African patient: A case report.
Govender KC et al.
Sage Open Medical Case Reports, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome.
Xu Y et al.
Annals of Dermatology, 2022
Gap junctions mediate discrete regulatory steps during fly spermatogenesis.
Pesch YY et al.
Plos Genetics, 2022
Ichthyosis follicularis syndromes in patients with mutations in GJB2.
Youssefian L et al.
Clinical and Experimental Dermatology, 2022
Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the GJB2 Gene in Two Serbian Adult Patients.
Kalezić T et al.
Balkan Journal of Medical Genetics : Bjmg, 2022
Hearing loss in Africa: current genetic profile.
Adadey SM et al.
Human Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Parental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.
Cohen-Barak E et al.
The Journal of Dermatology, 2022
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
Cellular mechanisms of connexin-based inherited diseases.
Laird DW et al.
Trends in Cell Biology, 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
Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome.
Sellitto C et al.
Scientific Reports, 2021
Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?
Peracchia C
International Journal of Molecular Sciences, 2021
KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).
Tang MM et al.
International Journal of Dermatology, 2021
Genetic skin disorders: The value of a multidisciplinary clinic.
Parker JC et al.
American Journal of Medical Genetics. Part A, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Mulitmodal Corneal Imaging of Genetically Confirmed Keratitis-Ichthyosis-Deafness Syndrome.
Lee Lenis T et al.
Cornea, 2020
Bilateral plantar plaques in a patient with Keratitis-ichthyosis-deafness syndrome.
Kubelis-López DE et al.
The Australasian Journal of Dermatology, 2020