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References from Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models. Local targets link to admitted publications; unresolved targets remain external evidence.
Cellular and deafness mechanisms underlying connexin mutation-induced hearing loss–a common hereditary deafness
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K+ cycling and the endocochlear potential
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Pathological mechanisms of connexin26-related hearing loss: potassium recycling, ATP-calcium signaling, or energy supply?
10.3389/fnmol.2022.976388 · 2022 · External reference
Impaired permeability to Ins (1, 4, 5) P3 in a mutant connexin underlies recessive hereditary deafness
10.1038/ncb1205 · 2005 · External reference
Timed conditional null of connexin26 in mice reveals temporary requirements of connexin26 in key cochlear developmental events before the onset of hearing
10.1016/j.nbd.2014.09.005 · 2015 · External reference
Targeted connexin26 ablation arrests postnatal development of the organ of Corti
10.1016/j.bbrc.2009.05.023 · 2009 · External reference
Genomic landscape and mutational signatures of deafness-associated genes
10.1016/j.ajhg.2018.08.006 · 2018 · External reference
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family
10.1034/j.1399-0004.2002.620409.x · 2002 · External reference
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria
10.1038/sj.ejhg.5200607 · 2001 · External reference
Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30
10.1016/j.nbd.2010.01.010 · 2010 · External reference
Prediction model for audiological outcomes in patients with GJB2 mutations
10.1097/aud.0000000000000742 · 2020 · External reference
GJB2–associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype
10.1002/lary.24332 · 2014 · External reference
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
10.1038/s41467-019-12438-5 · 2020 · External reference
Prevalent connexin 26 gene (GJB2) mutations in Japanese
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Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity
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The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment
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Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness
10.1097/01.gim.0000066796.11916.94 · 2003 · External reference
The homozygous p.V37I variant of GJB2 is associated with diverse hearing phenotypes
10.1111/cge.12387 · 2015 · External reference
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance
10.1002/ajmg.a.31982 · 2007 · External reference
A large cohort study of GJB2 mutations in Japanese hearing loss patients
10.1111/j.1399-0004.2010.01407.x · 2010 · External reference
The relationship between the p.V37I mutation in GJB2 and hearing phenotypes in Chinese individuals
10.1371/journal.pone.0129662 · 2015 · External reference
Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations
10.1002/ajmg.a.36042 · 2013 · External reference
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss
10.1001/archoto.2009.202 · 2010 · External reference
Newborn genetic screening for hearing impairment: a population-based longitudinal study
10.1038/gim.2016.66 · 2017 · External reference
Critical role of the first transmembrane domain of Cx26 in regulating oligomerization and function
10.1091/mbc.e11-12-1058 · 2012 · External reference
10.1016/j.jmb.2010.10.032
10.1016/j.jmb.2010.10.032 · External reference
Molecular dynamics simulations highlight structural and functional alterations in deafness–related M34T mutation of connexin 26
10.3389/fphys.2014.00085 · 2014 · External reference
10.1006/abbi.2000.1989
10.1006/abbi.2000.1989 · External reference
Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26: implication for key amino acid residues for channel formation and function
10.1074/jbc.m207713200 · 2003 · External reference
10.1016/j.febslet.2014.01.042
10.1016/j.febslet.2014.01.042 · External reference
T8M mutation in connexin-26 impairs the connexon topology and shifts its interaction paradigm with lipid bilayer leading to non-syndromic hearing loss
10.1016/j.molliq.2016.12.018 · 2017 · External reference
10.1085/jgp.201711782
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10.1016/s0014-5793(02)03755-9
10.1016/s0014-5793(02)03755-9 · External reference
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment
10.1016/j.nbd.2005.10.005 · 2006 · External reference
Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene
10.1038/emm.2015.32 · 2015 · External reference
DFNB1 non-syndromic hearing impairment: Diversity of mutations and associated phenotypes
10.3389/fnmol.2017.00428 · 2017 · External reference
10.1021/acs.chemrev.6b00163
10.1021/acs.chemrev.6b00163 · External reference
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10.1093/nar/gku340
10.1093/nar/gku340 · External reference
Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2
10.1038/srep33279 · 2016 · External reference
10.1073/pnas.89.22.10915
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Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice
10.1371/journal.pone.0064906 · 2013 · External reference
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10.1016/j.celrep.2020.03.046
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10.1016/j.bpj.2014.05.037
10.1016/j.bpj.2014.05.037 · External reference
The p.Cys169Tyr variant of connexin 26 is not a polymorphism
10.1093/hmg/ddv026 · 2015 · External reference
Expression of KID syndromic mutation Cx26S17F produces hyperactive hemichannels in supporting cells of the organ of Corti
10.3389/fcell.2022.1071202 · 2023 · External reference
Cues to opening mechanisms from in silico electric field excitation of Cx26 hemichannel and in vitro mutagenesis studies in HeLa transfectans
10.3389/fnmol.2018.00170 · 2018 · External reference
Reduced connexin26 in the mature cochlea increases susceptibility to noise-induced hearing loss in mice
10.3390/ijms17030301 · 2016 · External reference
Analysis of gene polymorphisms associated with K+ Ion circulation in the inner ear of patients susceptible and resistant to noise‐induced hearing loss
10.1111/j.1469-1809.2009.00521.x · 2009 · External reference
Gene-gene interaction of GJB2, SOD2, and CAT on occupational noise-induced hearing loss in Chinese Han population
2014 · External reference
Potassium ion movement in the inner ear: insights from genetic disease and mouse models
10.1152/physiol.00018.2009 · 2009 · External reference
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Connexin26–mediated gap junctional communication reverses the malignant phenotype of MCF‐7 breast cancer cells
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10.1038/s41586-018-0786-7 · External reference
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression
10.1007/s00439-002-0750-2 · 2002 · External reference
Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss
10.3109/00016489.2010.506885 · 2011 · External reference
Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro
10.1098/rsos.191128 · 2019 · External reference
10.1016/j.jsb.2022.107902
10.1016/j.jsb.2022.107902 · External reference
10.1021/acs.biochem.2c00341
10.1021/acs.biochem.2c00341 · External reference
Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort
10.1080/14992020802400654 · 2009 · External reference
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
10.1002/jcla.22592 · 2018 · External reference
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Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31
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Protein structure and function prediction using I‐TASSER
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Establishment of a knock-in mouse model with the SLC26A4c.919-2A>G mutation and characterization of its pathology
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