Associated Papers
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 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
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.
Birgmeier J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Calcium interactions with Cx26 hemmichannel: Spatial association between MD simulations biding sites and variant pathogenicity.
Albano JMR et al.
Computational Biology and Chemistry, 2018
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
Gudmundsson S et al.
Human Molecular Genetics, 2017
A novel dominant GJB2 (DFNA3) mutation in a Chinese family.
Wang H et al.
Scientific Reports, 2017
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
Kim HR et al.
Human Genetics, 2016
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Connecting with connexins.
Williams P et al.
The Australasian Journal of Dermatology, 2013
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
Choi SY et al.
Human Mutation, 2009
Functional evaluation of GJB2 variants in nonsyndromic hearing loss.
Choi SY et al.
Molecular Medicine (cambridge, Mass.), 0
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