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
A porcine congenital deafness model with unconditional knockout of GJB2 generated by CRISPR/Cas9 genomic editing.
Xie 谢飞 F et al.
Hearing Research, 2026
GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.
Morris JA et al.
International Journal of Molecular Sciences, 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
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.
Gudmundsson S et al.
Nature Communications, 2025
Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea.
Leoncio JC et al.
Human Genetics, 2025
Mathematical model of voltage gating of unapposed connexin hemichannels.
Snipas M et al.
The Journal of Physiology, 2025
Connexin Hemichannel Inhibition and Human Genodermatoses.
Mammano F et al.
The Journal of Investigative Dermatology, 2025
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Ozgur Z et al.
International Journal of Pediatric Otorhinolaryngology, 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
Common genetic etiologies of sensorineural hearing loss in Koreans.
Jang SH et al.
Genomics & Informatics, 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
Mosaic GJB2 mutations in widespread porokeratotic adnexal ostial nevus: Report of two patients.
Zhao A et al.
The Journal of Dermatology, 2024
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.
Gudmundsson S et al.
Biorxiv : the Preprint Server for Biology, 2024
Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss.
Namba K et al.
Bmc Research Notes, 2024
Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.
Tsukada K et al.
Scientific Reports, 2024
Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.
Mc Lean K et al.
Ophthalmic Genetics, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up.
Sakata A et al.
International Journal of Molecular Sciences, 2023
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 2023
Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma.
Letertre O et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 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 with lethal p.Ala88Val variant and severe hypercalcemia.
López-Sundh AE et al.
American Journal of Medical Genetics. Part A, 2023
Keratitis-ichthyosis-deafness syndrome: A comprehensive review of cutaneous and systemic manifestations.
Alsabbagh MM
Pediatric Dermatology, 2023
Research progress in delineating the pathological mechanisms of GJB2-related hearing loss.
Wang Y et al.
Frontiers in Cellular Neuroscience, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
Ichthyosis follicularis syndromes in patients with mutations in GJB2.
Youssefian L et al.
Clinical and Experimental Dermatology, 2022
Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.
Xiang J et al.
Bmc Medical Genomics, 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
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
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Recent advances in connexin gap junction biology.
Lampe PD et al.
Faculty Reviews, 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
Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome.
Sellitto C et al.
Scientific Reports, 2021
Modeling gap junction beta 2 gene-related deafness with human iPSC.
Fukunaga I et al.
Human Molecular Genetics, 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
Generation of two iPSC lines from siblings of a homozygous patient with hearing loss and a heterozygous carrier with normal hearing carrying p.G45E/Y136X mutation in GJB2.
Fukunaga I et al.
Stem Cell Research, 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
Opposing modulation of Cx26 gap junctions and hemichannels by CO2.
Nijjar S et al.
The Journal of Physiology, 2021
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.
Cai L et al.
Frontiers in Genetics, 2021