Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

No abstract is available for this paper.

• Publication year

  2008

• Venue

  Human Genetics

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00439-008-0602-9PMID 19050930PMCID PMC2737700
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Genotypic and Phenotypic Correlations in a Large Cohort of Hearing-Impaired Patients

  2016cited by this paper
• The prevalence of the 235delC GJB2 mutation in a Chinese deaf population

  2007influential reference
• Human connexin26 and connexin30 form functional heteromeric and heterotypic channels.

  2007cited by this paper
• Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.

  2006cited by this paper
• The genetic deafness in Chinese population

  2006cited by this paper
• High Frequency of 35delG GJB2 Mutation and Absence of del(GJB6-D13S1830) in Greek Cypriot Patients with Nonsyndromic Hearing Loss

  2006cited by this paper
• Cochlear gap junctions coassembled from Cx26 and 30 show faster intercellular Ca2+ signaling than homomeric counterparts.

  2005cited by this paper
• A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

  2005influential reference
• Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss

  2004cited by this paper
• Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria.

  2004cited by this paper
• Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele.

  2004cited by this paper
• Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness.

  2004cited by this paper
• Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

  2003cited by this paper
• Mutation analysis of Connexin 31 (GJB3) in sporadic non‐syndromic hearing impairment

  2003cited by this paper
• Loss‐of‐function and residual channel activity of connexin26 mutations associated with non‐syndromic deafness

  2003cited by this paper
• Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis.

  2003cited by this paper
• Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice.

  2003cited by this paper
• Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians

  2003influential reference
• Frequencies of gap‐ and tight‐junction mutations in Turkish families with autosomal‐recessive non‐syndromic hearing loss

  2003cited by this paper
• Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.

  2003cited by this paper
• The 342‐kb deletion in GJB6 is not present in patients with non‐syndromic hearing loss from Austria

  2003cited by this paper
• Gap junctions in the inner ear: Comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals

  2003cited by this paper
• [Mutation analysis of Cx26 gene in Chinese hereditary nonsyndromic deafness sufferers].

  2002cited by this paper
• Connexin26 gene (GJB2): prevalence of mutations in the Chinese population

  2002influential reference
• The prevalence of connexin 26 (GJB2) mutations in the Chinese population

  2002influential reference
• [An analysis of a large hereditary postlingually deaf families and detecting mutation of the deafness genes].

  2002cited by this paper
• Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

  2001influential reference
• Recurrent mutations in the deafness geneGJB2 (connexin 26) in British Asian families

  2001cited by this paper
• Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana

  2001cited by this paper
• Expression of connexin 31 in the developing mouse cochlea

  2000cited by this paper
• Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.

  2000influential reference
• The spectrum of mutations in erythrokeratodermias – novel and de novo mutations in GJB3

  2000cited by this paper
• Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

  2000cited by this paper
• The first extracellular loop domain is a major determinant of charge selectivity in connexin46 channels.

  2000cited by this paper
• Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness.

  1999cited by this paper
• Deafness linked to DFNA2: one locus but how many genes?

  1999cited by this paper
• Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

  1999cited by this paper
• Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

  1999influential reference
• Genetic diseases and gene knockouts reveal diverse connexin functions.

  1999cited by this paper
• Assembly of heteromeric connexons in guinea-pig liver en route to the Golgi apparatus, plasma membrane and gap junctions.

  1999influential reference
• Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

  1998cited by this paper
• Diverse functions of vertebrate gap junctions.

  1998influential reference
• A quantitative analysis of connexin-specific permeability differences of gap junctions expressed in HeLa transfectants and Xenopus oocytes.

  1998cited by this paper
• Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.

  1998cited by this paper
• Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

  1997cited by this paper
• Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.

  1997cited by this paper
• Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.

  1997cited by this paper
• Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

  1997cited by this paper
• Monovalent Cation Permeation through the Connexin40 Gap Junction Channel

  1997cited by this paper
• Altered Trafficking of Mutant Connexin32

  1997cited by this paper
• Size and selectivity of gap junction channels formed from different connexins

  1996cited by this paper
• Synthesis and assembly of human β 1 gap junctions in BHK cells by DNA transfection with the human β 1 cDNA

  1995cited by this paper
• Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells

  1995cited by this paper
• Synthesis and assembly of human beta 1 gap junctions in BHK cells by DNA transfection with the human beta 1 cDNA.

  1995cited by this paper
• Opposite voltage gating polarities of two closely related onnexins

  1994cited by this paper
• Selective interactions among the multiple connexin proteins expressed in the vertebrate lens: the second extracellular domain is a determinant of compatibility between connexins

  1994influential reference
• Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.

  1994cited by this paper
• Retention of a cis Golgi protein requires polar residues on one face of a predicted alpha-helix in the transmembrane domain.

  1993cited by this paper
• Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occurs after exit from the ER.

  1993cited by this paper
• Role of potentially charged transmembrane residues in targeting proteins for retention and degradation within the endoplasmic reticulum.

  1991cited by this paper
• A novel deletion involving the connexin-30 gene, del( GJB6 - d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

  year unknowncited by this paper

• Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.

  2026cites this paper
• Caste-based genetic diagnosis: evidence from a pathogenic SLC26A4 variant implicated in hereditary hearing loss.

  2026cites this paper
• External quality assessment of genetic testing for hereditary hearing loss in Shanghai and other regions

  2025cites this paper
• Research Progress on the GJB2 Gene 235delC Polymorphism Site

  2025cites this paper
• Sensing molecular carbon dioxide - a translational focus for respiratory disease.

  2025cites this paper
• Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct

  2025cites this paper
• X-Linked Deafness Type 2 and Poor Response to Cochlear Implantation: A Case Report

  2025cites this paper
• Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15

  2025cites this paper
• Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.

  2024cites this paper
• Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

  2024cites this paper
• Engineering APOBEC3A deaminase for highly accurate and efficient base editing

  2024cites this paper
• A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly

  2024cites this paper
• Genetic analysis of 106 sporadic cases with hearing loss in the UAE population

  2024cites this paper
• Digenic or oligogenic mutations in presumed monogenic disorders: A review

  2023cites this paper
• Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models

  2023cites this paper
• Genetic factors contribute to the phenotypic variability in GJB2-related hearing impairment.

  2023cites this paper
• Treatment of monogenic and digenic dominant genetic hearing loss by CRISPR-Cas9 ribonucleoprotein delivery in vivo

  2023cites this paper
• The roles of connexins and gap junctions in the progression of cancer

  2023cites this paper
• Exploring the Heterogeneity of Non-Syndromic Hearing Loss: A Comprehensive Review of Implicated Genes and the Role of Whole Exome Sequencing

  2023cites this paper
• Molecular Genetic Study of the Causes of Nonsyndromic Sensorineural Hearing Loss in Patients from Georgia

  2022cites this paper
• GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION

  2022cites this paper
• A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options

  2022cites this paper
• Insect Gap Junctions Could Be a Potential Target for Pest Management

  2022cites this paper
• Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome

  2021cites this paper
• Late onset of type 2 diabetes is associated with mitochondrial tRNATrp A5514G and tRNASer(AGY) C12237T mutations

  2021cites this paper
• Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell–Cell Communication?

  2021cites this paper
• Hearing impairment with mono-allelic GJB2 variants: a GJB2 cause or non-GJB2 cause?

  2021cites this paper
• Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China

  2021cites this paper
• Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation

  2021cites this paper
• GJB2 Gene Related Nonsyndromic Hearing Loss in Mazandaran Province, North of Iran

  2020cites this paper
• Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations

  2020cites this paper
• Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden

  2020cites this paper
• Efficacy of Connexin testing in detecting Non-syndromic Sensorineural Hearing Loss in an Indian cohort

  2020cites this paper
• Bullous Congenital Ichthyosiform Erythroderma: Management of Otological Manifestations

  2020cites this paper
• A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family.

  2020cites this paper
• Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran

  2020cites this paper
• Gap junctions in liver disease: Implications for pathogenesis and therapy.

  2019cites this paper
• A Mutational Analysis of GJB2, SLC26A4, MT-RNA1, and GJB3 in Children with Nonsyndromic Hearing Loss in the Henan Province of China

  2019influential citation
• References

  2019cites this paper
• Structure and Function of Cochlear Gap Junctions and Implications for the Translation of Cochlear Gene Therapies

  2019cites this paper
• Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

  2019cites this paper
• Unravelling the genetic bases of hearing loss: functional characterisation of pathogenic variants and novel candidate genes identified by whole-exome sequencing

  2019cites this paper
• Prediction Model for Audiological Outcomes in Patients With GJB2 Mutations

  2019cites this paper
• Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.

  2018cites this paper
• Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

  2018cites this paper
• Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations

  2018cites this paper
• Human diseases associated with connexin mutations.

  2018cites this paper
• GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?

  2018cites this paper
• Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family

  2018cites this paper
• The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population.

  2017cites this paper
• Analysis of GJB6 (Сx30) and GJB3 (Сx31) genes in deaf patients with monoallelic mutations in GJB2 (Сx26) gene in the Sakha Republic (Yakutia)

  2017influential citation
• Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?

  2016cites this paper
• Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation

  2016cites this paper
• Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes.

  2016cites this paper
• Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.

  2016influential citation
• SNaPshot Multiplex Assay for Rapid Detection of Mutations Associated with Hereditary Hearing Loss in Palestine

  2016cites this paper
• Non-syndromic hearing loss gene identification: A brief history and glimpse into the future.

  2015cites this paper
• Evidence of digenic inheritance in Alport syndrome

  2015cites this paper
• Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

  2015cites this paper
• Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.

  2015cites this paper
• Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan.

  2015cites this paper
• A Chromosome 17 Locus Engenders Frequency-Specific Non-Progressive Hearing Loss that Contributes to Age-Related Hearing Loss in Mice

  2015cites this paper
• Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

  2014cites this paper
• Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss.

  2014cites this paper
• Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.

  2014influential citation
• Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss

  2014cites this paper
• Connexine als potenzielle Biomarker für den Progress oraler Plattenepithelkarzinome: Analyse der Expressionsmuster von Connexin 26, 43 und 45 und ihres Einflusses auf das Überleben

  2014cites this paper
• 1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay

  2014cites this paper
• Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum

  2014cites this paper
• Molecular Genetic Diagnosis of Deafness: Current and Future

  2014cites this paper
• Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family.

  2014cites this paper
• Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3.

  2013cites this paper
• NON-SYNDROMIC HEARING LOSS AND HIGH-THROUGHPUT STRATEGIES TO DECIPHER ITS GENETIC HETEROGENEITY

  2013cites this paper
• Gastroesophageal Reflux in Children

  2013cites this paper
• Digenic inheritance in medical genetics

  2013cites this paper
• Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.

  2013cites this paper
• Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A

  2013cites this paper
• Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

  2013cites this paper
• Extending the Phenotypic Spectrum of Keratitis‐Ichthyosis‐Deafness Syndrome: Report of a Patient with GJB2 (G12R) Connexin 26 Mutation and Unusual Clinical Findings

  2012cites this paper
• Protein/Peptide Tags

  2012cites this paper
• Tags peptidiques/protéiques

  2012cites this paper
• Hereditary Hearing Loss: Genetic Counselling

  2012cites this paper
• [Hereditary hearing loss: genetic counselling].

  2012cites this paper
• Microarray-based mutation detection of pediatric sporadic nonsyndromic hearing loss in China.

  2012cites this paper
• Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies.

  2012cites this paper
• Autosomal recessive nonsyndromic deafness genes: a review.

  2012cites this paper
• Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling

  2012cites this paper
• Impact of Consanguineous Marriages in GJB2-Related Hearing Loss in the Iranian Population: A Report of a Novel Variant

  2011cites this paper
• Mutations in connexin genes and disease

  2011cites this paper
• Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme

  2011cites this paper
• Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

  2011cites this paper
• Searching for Digenic Inheritance in Deaf Brazilian Individuals Using the Multiplex Ligation-Dependent Probe Amplification Technique

  2011cites this paper
• Functional Evaluation of GJB2 Variants in Nonsyndromic Hearing Loss

  2011cites this paper
• Functional Evaluation of GJB 2 Variants in Nonsyndromic Hearing Loss

  2011cites this paper
• Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.

  2011cites this paper
• Modifiers of Hearing Impairment in Humans and Mice

  2010cites this paper
• Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

  2010cites this paper
• Gap Junctions and Connexins: The Molecular Genetics of Deafness

  2010cites this paper
• Investigation of GJB6 large deletions in Iranian patients using quantitative real-time PCR.

  2010cites this paper
• Saturation of the Human Phenome

  2010cites this paper