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Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

https://doi.org/10.1038/12612
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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/(sici)1098-1136(19990115)25:2<111::aid-glia2>3.0.co;2-iopenalex-snapshot
Late onset and increasing expression of the gap junction protein connexin30 in adult murine brain and long-term cultured astrocytes
inferredcites →https://doi.org/10.1007/s004410051192openalex-snapshot
Expression of the gap-junction connexins 26 and 30 in the rat cochlea
inferredcites →https://doi.org/10.1016/0076-6879(92)07026-kopenalex-snapshot
[24] Expression of gap junctional proteins in Xenopus oocyte pairs
inferredcites →https://doi.org/10.1016/0896-6273(95)90023-3openalex-snapshot
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel
inferredcites →https://doi.org/10.1016/s0140-6736(97)11124-2openalex-snapshot
Connexin-26 mutations in sporadic and inherited sensorineural deafness
inferredcites →https://doi.org/10.1016/s0196-0709(96)90051-4openalex-snapshot
Hereditary hearing loss and its syndromes
inferredcites →https://doi.org/10.1038/29202openalex-snapshot
Connexin mutations in deafness
inferredcites →https://doi.org/10.1038/30639openalex-snapshot
Connexin 26 gene linked to a dominant deafness
inferredcites →https://doi.org/10.1038/3845openalex-snapshot
Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment
inferredcites →https://doi.org/10.1038/387080a0openalex-snapshot
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
inferredcites →https://doi.org/10.1074/jbc.271.30.17903openalex-snapshot
Molecular Cloning and Functional Expression of Mouse Connexin-30,a Gap Junction Gene Highly Expressed in Adult Brain and Skin
inferredcites →https://doi.org/10.1085/jgp.77.1.77openalex-snapshot
Equilibrium properties of a voltage-dependent junctional conductance.
inferredcites →https://doi.org/10.1085/jgp.77.1.95openalex-snapshot
Kinetic properties of a voltage-dependent junctional conductance.
inferredcites →https://doi.org/10.1093/hmg/6.9.1605openalex-snapshot
Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
inferredcites →https://doi.org/10.1136/jmg.32.9.760openalex-snapshot
Hereditary Hearing Loss and its Syndromes
inferredcites →https://doi.org/10.1212/wnl.52.5.1010openalex-snapshot
Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

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Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
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Connexins
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DFN Genes
inferred← citeshttps://doi.org/10.1002/1096-8628(20000731)93:3<184::aid-ajmg4>3.0.co;2-5openalex-snapshot
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region
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Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
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Deafness
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Gap Junctions and Connexins: The Molecular Genetics of Deafness
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Ectodermal Dysplasias
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Genetics and Genodermatoses
inferred← citeshttps://doi.org/10.1002/9781444345384.ch127openalex-snapshot
Ectodermal Dysplasias
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Sensory Defects Caused by Mutant Motor Proteins
inferred← citeshttps://doi.org/10.1002/adbi.202400193openalex-snapshot
In Utero Gene Therapy and its Application in Genetic Hearing Loss
inferred← citeshttps://doi.org/10.1002/age.70075openalex-snapshot
GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
inferred← citeshttps://doi.org/10.1002/ajmg.10273.absopenalex-snapshot
Further evidence for a third deafness gene within the DFNA2 locus
inferred← citeshttps://doi.org/10.1002/ajmg.a.20210openalex-snapshot
Use of a multiplex PCR/sequencing strategy to detect both connexin 30 ( GJB6 ) 342 kb deletion and connexin 26 ( GJB2 ) mutations in cases of childhood deafness
inferred← citeshttps://doi.org/10.1002/ajmg.a.20588openalex-snapshot
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis
inferred← citeshttps://doi.org/10.1002/ajmg.a.31668openalex-snapshot
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment
inferred← citeshttps://doi.org/10.1002/ajmg.a.31706openalex-snapshot
Additional clinical manifestations in children with sensorineural hearing loss and biallelicGJB2mutations: Who should be offeredGJB2testing?
inferred← citeshttps://doi.org/10.1002/ajmg.a.31838openalex-snapshot
Molecular genetics study of deafness in Brazil: 8‐year experience
inferred← citeshttps://doi.org/10.1002/ajmg.a.32207openalex-snapshot
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls
inferred← citeshttps://doi.org/10.1002/ajmg.a.34198openalex-snapshot
A de novo 2.1‐Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features
inferred← citeshttps://doi.org/10.1002/cne.10916openalex-snapshot
Gap junctions in the inner ear: Comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals
inferred← citeshttps://doi.org/10.1002/cne.21113openalex-snapshot
Distinct and gradient distributions of connexin26 and connexin30 in the cochlear sensory epithelium of guinea pigs
inferred← citeshttps://doi.org/10.1002/cne.22117openalex-snapshot
Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea
inferred← citeshttps://doi.org/10.1002/dneu.22279openalex-snapshot
Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss
inferred← citeshttps://doi.org/10.1002/dvdy.538openalex-snapshot
Recent insights into gap junction biogenesis in the cochlea
inferred← citeshttps://doi.org/10.1002/glia.20315openalex-snapshot
Expression pattern and functional characterization of connexin29 in transgenic mice
inferred← citeshttps://doi.org/10.1002/glia.23591openalex-snapshot
Astroglial Cx30 sustains neuronal population bursts independently of gap‐junction mediated biochemical coupling
inferred← citeshttps://doi.org/10.1002/glia.24229openalex-snapshot
Active role of glia‐like supporting cells in the organ of Corti: Membrane proteins and their roles in hearing
inferred← citeshttps://doi.org/10.1002/glia.24590openalex-snapshot
Connexin 30 locally controls actin cytoskeleton and mechanical remodeling in motile astrocytes
inferred← citeshttps://doi.org/10.1002/humu.1222openalex-snapshot
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews
inferred← citeshttps://doi.org/10.1002/humu.20360openalex-snapshot
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss
inferred← citeshttps://doi.org/10.1002/lary.28646openalex-snapshot
Genetics of Postlingual Sensorineural Hearing Loss
inferred← citeshttps://doi.org/10.1002/mgg3.1171openalex-snapshot
Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families
inferred← citeshttps://doi.org/10.1002/ohn.1002openalex-snapshot
The Role of Connexin26 and Connexin30 in the Mouse Cochlea of Noise‐Induced Hearing Loss
inferred← citeshttps://doi.org/10.1002/pmf2.70280openalex-snapshot
Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians
inferred← citeshttps://doi.org/10.1006/dbio.2000.0148openalex-snapshot
Connexin31-Deficiency in Mice Causes Transient Placental Dysmorphogenesis but Does Not Impair Hearing and Skin Differentiation
inferred← citeshttps://doi.org/10.1006/geno.1999.6003openalex-snapshot
Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay (ARSACS): High-Resolution Physical and Transcript Map of the Candidate Region in Chromosome Region 13q11
inferred← citeshttps://doi.org/10.1007/0-387-21853-x_6openalex-snapshot
Autosomal and X-Linked Auditory Disorders
inferred← citeshttps://doi.org/10.1007/0-387-21853-x_8openalex-snapshot
Mice as Models for Human Hereditary Deafness
inferred← citeshttps://doi.org/10.1007/2506_2013_2openalex-snapshot
Molecular Etiology of Deafness and Cochlear Consequences
inferred← citeshttps://doi.org/10.1007/3-540-28621-7_6openalex-snapshot
Connexins Responsible for Hereditary Deafness — The Tale Unfolds
inferred← citeshttps://doi.org/10.1007/3-540-28621-7_7openalex-snapshot
Human Connexins in Skin Development and Skin Disorders
inferred← citeshttps://doi.org/10.1007/978-0-387-46957-7_13openalex-snapshot
Gap Junctions
inferred← citeshttps://doi.org/10.1007/978-0-387-73364-7_1openalex-snapshot
Overview: Regeneration and Repair
inferred← citeshttps://doi.org/10.1007/978-0-387-73364-7_6openalex-snapshot
Protection and Repair of Inner Ear Sensory Cells
inferred← citeshttps://doi.org/10.1007/978-1-59745-489-6_20openalex-snapshot
Connexins in the Inner Ear
inferred← citeshttps://doi.org/10.1007/978-3-319-20149-8_13openalex-snapshot
Gap Junction Channels: The Electrical Conduit of the Intercellular World
inferred← citeshttps://doi.org/10.1007/s00018-007-6417-3openalex-snapshot
Hearing molecules: contributions from genetic deafness
inferred← citeshttps://doi.org/10.1007/s00018-010-0551-zopenalex-snapshot
Structure of the gap junction channel and its implications for its biological functions
inferred← citeshttps://doi.org/10.1007/s00106-004-1159-0openalex-snapshot
Kongenitale Schwerhörigkeit
inferred← citeshttps://doi.org/10.1007/s001060170056openalex-snapshot
Angeborene Erkrankungen des Hörvermögens bei Kindern
inferred← citeshttps://doi.org/10.1007/s00114-012-0988-zopenalex-snapshot
Cell-to-cell communication in plants, animals, and fungi: a comparative review
inferred← citeshttps://doi.org/10.1007/s00232-001-0017-1openalex-snapshot
Intracellular Domains of Mouse Connexin26 and -30 Affect Diffusional and Electrical Properties of Gap Junction Channels
inferred← citeshttps://doi.org/10.1007/s00232-005-0832-xopenalex-snapshot
Gap Junctions and Cochlear Homeostasis
inferred← citeshttps://doi.org/10.1007/s00232-011-9353-yopenalex-snapshot
Inhibition of Connexin 26 by the AMP-Activated Protein Kinase
inferred← citeshttps://doi.org/10.1007/s00418-008-0502-zopenalex-snapshot
Roles of gap junctions in glucose transport from glucose transporter 1-positive to -negative cells in the lateral wall of the rat cochlea
inferred← citeshttps://doi.org/10.1007/s00424-016-1815-8openalex-snapshot
ATP-sensitive K+ channels (Kir6.1/SUR1) regulate gap junctional coupling in cochlear-supporting cells
inferred← citeshttps://doi.org/10.1007/s00424-016-1871-0openalex-snapshot
The unique electrical properties in an extracellular fluid of the mammalian cochlea; their functional roles, homeostatic processes, and pathological significance
inferred← citeshttps://doi.org/10.1007/s00439-002-0750-2openalex-snapshot
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
inferred← citeshttps://doi.org/10.1007/s00439-002-0811-6openalex-snapshot
The prevalence of connexin 26 ( GJB2 ) mutations in the Chinese population
inferred← citeshttps://doi.org/10.1007/s00439-008-0556-yopenalex-snapshot
Human hereditary hearing impairment: mouse models can help to solve the puzzle
inferred← citeshttps://doi.org/10.1007/s00439-008-0602-9openalex-snapshot
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31
inferred← citeshttps://doi.org/10.1007/s00439-009-0758-yopenalex-snapshot
A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss
inferred← citeshttps://doi.org/10.1007/s00439-010-0791-xopenalex-snapshot
Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss
inferred← citeshttps://doi.org/10.1007/s00439-010-0856-xopenalex-snapshot
Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation
inferred← citeshttps://doi.org/10.1007/s004390100604openalex-snapshot
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
inferred← citeshttps://doi.org/10.1007/s00441-014-2029-zopenalex-snapshot
Connexins and gap junctions in the inner ear – it’s not just about K+ recycling
inferred← citeshttps://doi.org/10.1007/s00441-016-2359-0openalex-snapshot
Super-resolution structured illumination fluorescence microscopy of the lateral wall of the cochlea: the Connexin26/30 proteins are separately expressed in man
inferred← citeshttps://doi.org/10.1007/s007950070001openalex-snapshot
Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness
inferred← citeshttps://doi.org/10.1007/s100380200098openalex-snapshot
A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree
inferred← citeshttps://doi.org/10.1007/s10048-003-0145-0openalex-snapshot
Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin
inferred← citeshttps://doi.org/10.1007/s10162-026-01034-2openalex-snapshot
The Cochlear Lateral Wall as a Biological Battery: the Mechanisms Underlying K+ Transport and Potential Generation
inferred← citeshttps://doi.org/10.1007/s10528-011-9463-3openalex-snapshot
Molecular Cloning and Evolutionary Analysis of GJB6 in Mammals
inferred← citeshttps://doi.org/10.1007/s11684-022-0933-2openalex-snapshot
A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome
inferred← citeshttps://doi.org/10.1007/s12013-012-9481-8openalex-snapshot
Mechanism of Two Novel Human GJC3 Missense Mutations in Causing Non-Syndromic Hearing Loss
inferred← citeshttps://doi.org/10.1007/s13238-010-0118-7openalex-snapshot
Trafficking abnormality and ER stress underlie functional deficiency of hearing impairmentassociated connexin-31 mutants
inferred← citeshttps://doi.org/10.1016/b978-0-12-383834-6.00150-6openalex-snapshot
Hereditary Hearing Impairment
inferred← citeshttps://doi.org/10.1016/b978-0-12-397267-5.00014-5openalex-snapshot
Sensory Organ Disorders (Retina, Auditory, Olfactory, Gustatory)
inferred← citeshttps://doi.org/10.1016/b978-0-12-408088-1.00004-xopenalex-snapshot
Human Gene Discovery for Understanding Development of the Inner Ear and Hearing Loss
inferred← citeshttps://doi.org/10.1016/b978-0-12-802002-9.00013-3openalex-snapshot
Connexins and Heritable Human Diseases
inferred← citeshttps://doi.org/10.1016/b978-0-12-809324-5.24165-5openalex-snapshot
Development and Deafness
inferred← citeshttps://doi.org/10.1016/b978-0-12-809324-5.24234-xopenalex-snapshot
Physiology and Pharmacology of the Cochlea
inferred← citeshttps://doi.org/10.1016/b978-0-12-811114-7.00015-3openalex-snapshot
Biology of gap junctions
inferred← citeshttps://doi.org/10.1016/b978-0-12-815234-8.00003-3openalex-snapshot
Hereditary Hearing Impairment
inferred← citeshttps://doi.org/10.1016/b978-0-12-816150-0.16001-0openalex-snapshot
References
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Cochlear Transduction and the Molecular Basis of Auditory Pathology
inferred← citeshttps://doi.org/10.1016/b978-0-323-05283-2.00148-8openalex-snapshot
Genetic Sensorineural Hearing Loss
inferred← citeshttps://doi.org/10.1016/b978-012148660-0/50016-0openalex-snapshot
Cell–Cell Communication: An Overview Emphasizing Gap Junctions
inferred← citeshttps://doi.org/10.1016/b978-012370880-9.00014-1openalex-snapshot
Homeostasis of the Inner Ear
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Disorders of Cornification (Ichthyosis)
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Disorders of Cornification (Ichthyosis)
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Alteraciones de la cornificación (ictiosis)
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The role of connexins in ear and skin physiology — Functional insights from disease-associated mutations
inferred← citeshttps://doi.org/10.1016/j.bbamem.2017.04.024openalex-snapshot
Human diseases associated with connexin mutations
inferred← citeshttps://doi.org/10.1016/j.bbrc.2005.09.116openalex-snapshot
Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss
inferred← citeshttps://doi.org/10.1016/j.bbrc.2005.09.193openalex-snapshot
Expression patterns of connexin 29 (GJE1) in mouse and rat cochlea
inferred← citeshttps://doi.org/10.1016/j.bbrc.2009.02.125openalex-snapshot
Mutation in gap and tight junctions in patients with non-syndromic hearing loss
inferred← citeshttps://doi.org/10.1016/j.bbrc.2010.03.098openalex-snapshot
Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss
inferred← citeshttps://doi.org/10.1016/j.bbrc.2011.11.093openalex-snapshot
Early developmental expression of connexin26 in the cochlea contributes to its dominate functional role in the cochlear gap junctions
inferred← citeshttps://doi.org/10.1016/j.brainres.2009.02.008openalex-snapshot
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models
inferred← citeshttps://doi.org/10.1016/j.brainresbull.2021.06.008openalex-snapshot
Efnb2 haploinsufficiency induces early gap junction plaque disassembly and endocytosis in the cochlea
inferred← citeshttps://doi.org/10.1016/j.clindermatol.2004.09.010openalex-snapshot
Connexin disorders of the skin
inferred← citeshttps://doi.org/10.1016/j.ejmg.2009.02.010openalex-snapshot
Clinical and molecular genetic analysis of a family with macrothrombocytopenia and early onset sensorineural hearing loss
inferred← citeshttps://doi.org/10.1016/j.febslet.2014.03.040openalex-snapshot
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice
inferred← citeshttps://doi.org/10.1016/j.gene.2004.12.048openalex-snapshot
Gene structure and promoter analysis of the human GJB6 gene encoding connexin30
inferred← citeshttps://doi.org/10.1016/j.gene.2015.07.050openalex-snapshot
Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India
inferred← citeshttps://doi.org/10.1016/j.gene.2021.146032openalex-snapshot
Genome-wide characterization of gap junction (connexins and pannexins) genes in turbot (Scophthalmus maximus L.): evolution and immune response following Vibrio anguillarum infection
inferred← citeshttps://doi.org/10.1016/j.heares.2004.01.005openalex-snapshot
The cochlear F-box protein OCP1 associates with OCP2 and connexin 26
inferred← citeshttps://doi.org/10.1016/j.heares.2004.03.007openalex-snapshot
Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria
inferred← citeshttps://doi.org/10.1016/j.heares.2004.05.007openalex-snapshot
Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness
inferred← citeshttps://doi.org/10.1016/j.heares.2004.07.001openalex-snapshot
Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria
inferred← citeshttps://doi.org/10.1016/j.heares.2004.07.011openalex-snapshot
Down-regulation of otospiralin mRNA in response to acoustic stress in guinea pig
inferred← citeshttps://doi.org/10.1016/j.heares.2009.01.010openalex-snapshot
Unique expression of connexins in the human cochlea
inferred← citeshttps://doi.org/10.1016/j.heares.2014.04.010openalex-snapshot
The connexin 30.3 of zebrafish homologue of human connexin 26 may play similar role in the inner ear
inferred← citeshttps://doi.org/10.1016/j.heares.2019.01.020openalex-snapshot
Actin-independent Trafficking of Cochlear Connexin 26 to Non-lipid Raft Gap Junction Plaques
inferred← citeshttps://doi.org/10.1016/j.heares.2019.107858openalex-snapshot
Gene therapy for genetic mutations affecting non-sensory cells in the cochlea
inferred← citeshttps://doi.org/10.1016/j.heares.2020.107906openalex-snapshot
Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss
inferred← citeshttps://doi.org/10.1016/j.heares.2020.108137openalex-snapshot
Tricellular Adherens Junctions Provide a Cell Surface Delivery Platform for Connexin 26/30 Oligomers in the Cochlea
inferred← citeshttps://doi.org/10.1016/j.ijporl.2004.12.002openalex-snapshot
Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing
inferred← citeshttps://doi.org/10.1016/j.ijporl.2008.05.007openalex-snapshot
Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients
inferred← citeshttps://doi.org/10.1016/j.ijporl.2010.03.004openalex-snapshot
GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent
inferred← citeshttps://doi.org/10.1016/j.ijporl.2010.12.003openalex-snapshot
Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss
inferred← citeshttps://doi.org/10.1016/j.ijporl.2011.01.029openalex-snapshot
Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population
inferred← citeshttps://doi.org/10.1016/j.ijporl.2013.04.001openalex-snapshot
Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil
inferred← citeshttps://doi.org/10.1016/j.ijporl.2014.08.036openalex-snapshot
Genetics of non-syndromic hearing loss in the Middle East
inferred← citeshttps://doi.org/10.1016/j.ijporl.2017.09.001openalex-snapshot
The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population
inferred← citeshttps://doi.org/10.1016/j.jgg.2012.11.002openalex-snapshot
Clue to a New Deafness Gene: A Large Chinese Nonsyndromic Hearing Loss Family Linked to DFNA4
inferred← citeshttps://doi.org/10.1016/j.jhep.2018.12.023openalex-snapshot
Gap junctions in liver disease: Implications for pathogenesis and therapy
inferred← citeshttps://doi.org/10.1016/j.jmoldx.2018.06.005openalex-snapshot
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants
inferred← citeshttps://doi.org/10.1016/j.mcn.2010.10.002openalex-snapshot
Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26
inferred← citeshttps://doi.org/10.1016/j.mcp.2015.03.008openalex-snapshot
Non-syndromic hearing loss gene identification: A brief history and glimpse into the future
inferred← citeshttps://doi.org/10.1016/j.mcp.2017.03.001openalex-snapshot
Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing
inferred← citeshttps://doi.org/10.1016/j.mod.2018.10.001openalex-snapshot
Cochlear connexin 30 homomeric and heteromeric channels exhibit distinct assembly mechanisms
inferred← citeshttps://doi.org/10.1016/j.mrfmmm.2017.05.001openalex-snapshot
Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families
inferred← citeshttps://doi.org/10.1016/j.nbd.2005.10.005openalex-snapshot
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment
inferred← citeshttps://doi.org/10.1016/j.nbd.2010.01.010openalex-snapshot
Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30
inferred← citeshttps://doi.org/10.1016/j.neuint.2020.104727openalex-snapshot
A roadmap for potassium buffering/dispersion via the glial network of the CNS
inferred← citeshttps://doi.org/10.1016/j.neulet.2008.06.060openalex-snapshot
Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5
inferred← citeshttps://doi.org/10.1016/j.neulet.2017.09.020openalex-snapshot
Connexin hemichannels and cochlear function
inferred← citeshttps://doi.org/10.1016/j.neulet.2019.134527openalex-snapshot
Genetic Therapies for Hearing Loss: Accomplishments and Remaining Challenges
inferred← citeshttps://doi.org/10.1016/j.neuroscience.2011.09.023openalex-snapshot
D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness
inferred← citeshttps://doi.org/10.1016/j.otoeng.2011.02.005openalex-snapshot
Hereditary Hearing Loss: Genetic Counselling
inferred← citeshttps://doi.org/10.1016/j.otorri.2011.02.006openalex-snapshot
Hipoacusias hereditarias: asesoramiento genético
inferred← citeshttps://doi.org/10.1016/j.semcdb.2012.09.004openalex-snapshot
ATP-dependent intercellular Ca2+ signaling in the developing cochlea: Facts, fantasies and perspectives
inferred← citeshttps://doi.org/10.1016/j.spen.2006.11.007openalex-snapshot
Atypical Patterns of Inheritance
inferred← citeshttps://doi.org/10.1016/j.ydbio.2019.02.004openalex-snapshot
Eph/ephrin signalling in the development and function of the mammalian cochlea
inferred← citeshttps://doi.org/10.1016/s0001-6519(02)78349-0openalex-snapshot
Incidencia de las mutaciones a1555g en el adn mitocondrial y 35delg en el gen gjb2 (conexina 26) en familias con hipoacusia neurosensorial postlocutiva no sindrómica en cantabria
inferred← citeshttps://doi.org/10.1016/s0006-291x(02)00929-4openalex-snapshot
Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells
inferred← citeshttps://doi.org/10.1016/s0006-291x(02)02517-2openalex-snapshot
Functional studies of human skin disease- and deafness-associated connexin 30 mutations
inferred← citeshttps://doi.org/10.1016/s0006-291x(03)00868-4openalex-snapshot
Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells
inferred← citeshttps://doi.org/10.1016/s0006-291x(03)01166-5openalex-snapshot
Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice
inferred← citeshttps://doi.org/10.1016/s0006-8993(01)02216-8openalex-snapshot
Expression of connexin 30 in the developing mouse cochlea
inferred← citeshttps://doi.org/10.1016/s0014-5793(02)03755-9openalex-snapshot
Loss‐of‐function and residual channel activity of connexin26 mutations associated with non‐syndromic deafness
inferred← citeshttps://doi.org/10.1016/s0027-5107(00)00106-8openalex-snapshot
Ionizing radiation and genetic risks
inferred← citeshttps://doi.org/10.1016/s0027-5107(00)00107-xopenalex-snapshot
Ionizing radiation and genetic risks
inferred← citeshttps://doi.org/10.1016/s0030-6665(02)00013-0openalex-snapshot
Nonsyndromic hereditary hearing loss
inferred← citeshttps://doi.org/10.1016/s0030-6665(02)00053-1openalex-snapshot
Etiology of syndromic and nonsyndromic sensorineural hearing loss
inferred← citeshttps://doi.org/10.1016/s0065-2660(08)01005-5openalex-snapshot
Chapter 5 Channelopathies of Transepithelial Transport and Vesicular Function
inferred← citeshttps://doi.org/10.1016/s0070-2153(08)00608-xopenalex-snapshot
Chapter 8 Mouse Models for Human Hereditary Deafness
inferred← citeshttps://doi.org/10.1016/s0070-2161(08)61026-6openalex-snapshot
Chapter 22: Molecular Basis of Deafness due to Mutations in the Connexin26 Gene (GJB2)
inferred← citeshttps://doi.org/10.1016/s0140-6736(01)06186-4openalex-snapshot
Advances in hereditary deafness
inferred← citeshttps://doi.org/10.1016/s0169-328x(00)00204-7openalex-snapshot
Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2
inferred← citeshttps://doi.org/10.1016/s0169-328x(02)00397-2openalex-snapshot
Expression of members of Wnt and Frizzled gene families in the postnatal rat cochlea
inferred← citeshttps://doi.org/10.1016/s0378-5955(02)00279-4openalex-snapshot
K+ cycling and the endocochlear potential
inferred← citeshttps://doi.org/10.1016/s0378-5955(03)00346-0openalex-snapshot
Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6
inferred← citeshttps://doi.org/10.1016/s0385-8146(02)00014-7openalex-snapshot
High-throughput screening for GJB2 mutations—its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations
inferred← citeshttps://doi.org/10.1016/s0923-1811(03)00033-1openalex-snapshot
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia
inferred← citeshttps://doi.org/10.1016/s0929-693x(00)00201-3openalex-snapshot
Les surdités génétiques : première cause de surdité de perception de l’enfant
inferred← citeshttps://doi.org/10.1016/s0959-4388(00)00089-1openalex-snapshot
Neurological diseases caused by ion-channel mutations
inferred← citeshttps://doi.org/10.1016/s0959-4388(00)00120-3openalex-snapshot
Modifier genes of hereditary hearing loss
inferred← citeshttps://doi.org/10.1016/s0962-8924(00)01866-3openalex-snapshot
Human diseases: clues to cracking the connexin code?
inferred← citeshttps://doi.org/10.1016/s1040-0486(02)70009-4openalex-snapshot
Inherited disorders of keratinization
inferred← citeshttps://doi.org/10.1016/s1471-4914(02)02327-4openalex-snapshot
Connexin mutations in hearing loss, dermatological and neurological disorders
inferred← citeshttps://doi.org/10.1016/s1525-1578(10)60522-3openalex-snapshot
Hereditary Non-Syndromic Sensorineural Hearing Loss
inferred← citeshttps://doi.org/10.1016/s1569-2558(03)32008-9openalex-snapshot
Gap junction mutations in human disease
inferred← citeshttps://doi.org/10.1016/s1672-2930(06)50020-0openalex-snapshot
GJB2 mutation spectrum in deaf population in a typical southeastern area of China
inferred← citeshttps://doi.org/10.1016/s1672-2930(07)50018-8openalex-snapshot
GJB2 mutation spectrum in Inner Mongolia and its comparison with other Asian populations
inferred← citeshttps://doi.org/10.1017/s0022215112001119openalex-snapshot
Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss
inferred← citeshttps://doi.org/10.1017/s0022215113003265openalex-snapshot
Non-syndromic hereditary sensorineural hearing loss: review of the genes involved
inferred← citeshttps://doi.org/10.1017/s0033583501003705openalex-snapshot
Emerging issues of connexin channels: biophysics fills the gap
inferred← citeshttps://doi.org/10.1017/s1462399409001276openalex-snapshot
Connexin-26 mutations in deafness and skin disease
inferred← citeshttps://doi.org/10.1021/acsami.3c14680openalex-snapshot
Control of Neuronal Survival and Development Using Conductive Diamond
inferred← citeshttps://doi.org/10.1034/j.1399-0004.2000.570607.xopenalex-snapshot
Mutations ofGJB2in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates
inferred← citeshttps://doi.org/10.1034/j.1399-0004.2002.620101.xopenalex-snapshot
Non‐syndromic autosomal‐dominant deafness
inferred← citeshttps://doi.org/10.1034/j.1399-0004.2003.00079.xopenalex-snapshot
A novel dominant missense mutation – D179N – in the GJB2 gene (Connexin 26) associated with non‐syndromic hearing loss
inferred← citeshttps://doi.org/10.1034/j.1399-0004.2003.00101.xopenalex-snapshot
Frequencies of gap‐ and tight‐junction mutations in Turkish families with autosomal‐recessive non‐syndromic hearing loss
inferred← citeshttps://doi.org/10.1038/35036198openalex-snapshot
Neuronal KCNQ potassium channels:physislogy and role in disease
inferred← citeshttps://doi.org/10.1038/72793openalex-snapshot
Targeted disruption of Otog results in deafness and severe imbalance
inferred← citeshttps://doi.org/10.1038/79851openalex-snapshot
Mutations in GJB6 cause hidrotic ectodermal dysplasia
inferred← citeshttps://doi.org/10.1038/84758openalex-snapshot
A genetic approach to understanding auditory function
inferred← citeshttps://doi.org/10.1038/gim.2015.141openalex-snapshot
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation
inferred← citeshttps://doi.org/10.1038/jhg.2009.4openalex-snapshot
The genetic bases for non-syndromic hearing loss among Chinese
inferred← citeshttps://doi.org/10.1038/mt.2013.62openalex-snapshot
Mouse Otocyst Transuterine Gene Transfer Restores Hearing in Mice With Connexin 30 Deletion-associated Hearing Loss
inferred← citeshttps://doi.org/10.1038/nn.3662openalex-snapshot
Connexin 30 sets synaptic strength by controlling astroglial synapse invasion
inferred← citeshttps://doi.org/10.1038/nrd4533openalex-snapshot
New treatment options for hearing loss
inferred← citeshttps://doi.org/10.1038/s41434-020-0177-1openalex-snapshot
Gene therapy development in hearing research in China
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