Associated Papers
Exploring the binding sites of VRT534 at Cx26 as a putative chemical chaperone for targeted treatment of hereditary hearing disorders.
Harre J et al.
Frontiers in Medicine, 2025
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 2023
A Chemical Chaperone Restores Connexin 26 Mutant Activity.
Wang D et al.
Acs Pharmacology & Translational Science, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.
Maslova EA et al.
Biomolecules, 2021
Microarray-based screening system identifies temperature-controlled activity of Connexin 26 that is distorted by mutations.
Wang H et al.
Scientific Reports, 2019
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.
Xiao Z et al.
Acta Oto-laryngologica, 2011
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Hoang Dinh E et al.
Brain Research, 2009
Progress in understanding GJB2-linked deafness.
Gualandi F et al.
Community Genetics, 2003
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
Thönnissen E et al.
Human Genetics, 2002
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