Condition: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
rs104894401 in
GJB2 gene and
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
PMID 17567887 2007 Molecular genetics study of deafness in Brazil: 8-year experience.
PMID 26397989 2015 Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
PMID 12668604 2003 Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
PMID 12786758 2003 A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.
PMID 10807696 2000 A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
PMID 11438992 2001 Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).
PMID 9620796 1998 Connexin 26 gene linked to a dominant deafness.
PMID 11439000 2001 Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
PMID 11313763 2001 Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
PMID 22991996 2013 Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.
PMID 17666888 2007 A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
PMID 23856378 2013 Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.
PMID 16931589 2006 Detection of mutations in genes associated with hearing loss using a microarray-based approach.
PMID 21040787 2011 Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.
PMID 19715472 2009 Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.
PMID 20096356 2010 Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.
PMID 17485979 2007 High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.
PMID 19384972 2009 Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
PMID 9856479 1998 Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
PMID 11354642 2001 De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.
PMID 26252218 2015 Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.
PMID 25288386 2014 GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
PMID 17041943 2006 DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
PMID 15365987 2004 GJB2: the spectrum of deafness-causing allele variants and their phenotype.
PMID 24774219 2014 Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
PMID 23668481 2013 Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
PMID 17660464 2007 A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
PMID 18472371 2008 A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss.
PMID 16380907 2005 GJB2 mutations and degree of hearing loss: a multicenter study.
PMID 24256046 2014 Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.
PMID 25401782 2014 New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.
PMID 16217030 2005 Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.
PMID 15967879 2005 GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
PMID 20863150 2011 Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.
PMID 11493200 2001 Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
PMID 17935238 2007 M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
PMID 15070423 2004 Molecular epidemiology of DFNB1 deafness in France.
PMID 11584050 2001 Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.
PMID 25388846 2015 Bioinformatic Analysis of GJB2 Gene Missense Mutations.
PMID 15666300 2005 GJB2 mutations: passage through Iran.
PMID 22613756 2012 Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss.
PMID 15617550 2005 Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
PMID 12408072 2002 Clinical presentation of DFNB1.
PMID 19235794 2009 Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations.
PMID 18776652 2008 GJB2 mutations in Baluchi population.
PMID 16222667 2005 Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.
PMID 12865758 2004 Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
PMID 22925408 2012 Unique spectrum of GJB2 mutations in Mexico.
PMID 26444186 2016 Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
PMID 10982180 2000 Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
PMID 26043044 2015 GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.
PMID 12176036 2002 Hearing loss: frequency and functional studies of the most common connexin26 alleles.
PMID 25625422 2015 Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.
PMID 12172394 2002 Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
PMID 24158611 2013 Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.
PMID 21777984 2011 GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China.
PMID 19929407 2010 Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia.
PMID 19371219 2009 Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
PMID 16059934 2005 The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness.
PMID 12189493 2002 Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
PMID 21094651 2011 Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels.
PMID 21465647 2011 Vestibular dysfunction in DFNB1 deafness.
PMID 11102979 2000 Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
PMID 25266519 2014 Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.
PMID 12925341 2003 Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
PMID 16950989 2006 Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
PMID 12910486 2003 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.
PMID 22695344 2012 The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.
PMID 24529908 2014 Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.
PMID 20234132 2010 GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.
PMID 20022641 2010 Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.
PMID 14676473 2004 A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness.
PMID 14985372 2004 A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
PMID 23680645 2013 Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.
PMID 20650534 2010 DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome.
PMID 12792423 2003 Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.
PMID 21094084 2011 Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously.
PMID 24949729 2014 Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
PMID 19567088 2009 [Mutation of Gap junction protein beta 2 gene and treatment outcome of cochlear implantation in cochlear implantation recipients].
PMID 23967136 2013 Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.
PMID 22567861 2012 [Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness].
PMID 9336442 1997 Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
PMID 9328482 1997 Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
PMID 9285800 1997 Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
PMID 12172392 2002 GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
PMID 10376574 1999 Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
PMID 10713883 2000 High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
PMID 18294064 2007 Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
PMID 10501520 1999 Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.
PMID 12352684 2002 Functional study of GJB2 in hereditary hearing loss.
PMID 12505163 2003 Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.