| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.57949706 |
| RESULTS : We identified a 342 kb deletion in the gene encoding connexin 30 ( GJB 6 ) , a protein that is reported to be expressed with connexin 26 in the inner ear . 0.57949706^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Connexin 26 and connexin 30 were both expressed in the spiral limbus , the spiral ligament , the stria vascularis and between supporting cells of the organ of Corti . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Microinjection of connexin 30 cRNA into Xenopus oocytes induced formation of functional gap junction channels that gated somewhat asymmetrically in response to transjunctional voltage and at significantly lower voltage ( Vo = +38 and 46 mV ) than the closely homologous connexin 26 channels ( Vo = 89 mV ) . ^^^ Heterotypic pairings of connexin 30 with connexin 26 and connexin 32 produced channels with highly asymmetric and rectifying voltage gating , respectively . ^^^ This suggests that the polarity of voltage gating and the cationic selectivity of connexin 30 are similar to those of its closest homologue , connexin 26 . . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Connexin 26 and connexin 30 have been previously shown to be strongly expressed in the inner ear of adult rats and to be mainly colocalized . ^^^ Because intercellular connections by gap junction proteins are crucial for maturation of different tissues , we investigated the developmental expression of connexin 26 and connexin 30 in pre and postnatal rats using immunocytochemistry . ^^^ In the rat otocyst , staining for connexin 26 as well as for connexin 30 appeared at the 17th day of gestation . ^^^ In the cochlea of a 22 week old human embryo , connexin 26 and connexin 30 could be detected in the lateral wall , suggesting that both connexins also play a crucial role in function of the human inner ear . . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Human connexin 26 and connexin 30 are expressed in the same cells of the cochlea . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Among these , three genes , GJB 2 , GJB 3 , and GJB 6 , encode for connexin proteins ( Connexin 26 , Connexin 31 , and Connexin 30 , respectively ) . ^^^ Expression patterns in mouse and rat cochlea indicate that Connexin 26 and Connexin 30 are expressed in the supportive cells of the cochlea , suggesting a potential role in endolymph potassium recycling . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Western blot analysis showed these fractions to be enriched in both neuronal and glial connexins , namely , connexin 26 , connexin 30 , connexin 36 and connexin 43 . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| We have studied 134 patients with severe to profound hearing loss or deafness and 13 patients with mild to moderate nonsyndromic sensorineural hearing loss in order to evaluate the prevalence of connexin 26 and connexin 30 mutations in Germany . ^^^ Mutations in the connexin 26 gene were found in 30 patients ( 22 % ) with profound to severe hearing impairment whereas only one novel single nucleotide polymorphism ( 396G > A ) in the connexin 30 gene was detected . ^^^ Among the 13 patients with mild to moderate hearing loss neither mutations in the connexin 26 nor in the connexin 30 gene could be detected . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| The effect of the deletion mutation could be due to a digenic mode of inheritance of GJB 2 and GJB 6 genes that encode two different connexins ; connexin 26 and connexin 30 , or it may abolish control elements that are important in the expression of the GJB 2 gene in the cochlea . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Connexin 26 in adult rodent central nervous system : demonstration at astrocytic gap junctions and colocalization with connexin 30 and connexin 43 . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Connexin 26 and connexin 30 have been demonstrated in the inner ear by immunohistochemistry and Northern Blot analysis . ^^^ Mutations in the genes for connexin 26 and connexin 30 have been described to be responsible for non syndromic hearing loss . ^^^ METHODS : We investigated the prevalence of connexin 26 and connexin 30 mutations in patients with profound hearing loss or deafness by SSCP analysis and sequencing . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Mutations in the gene for connexin 26 ( GJB 2 ) that cause hearing loss have a dominant negative effect on connexin 30 . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| For example , digenic interactions are now known to be an important cause of deafness in individuals who carry a single mutation at the Connexin 26 locus along with a deletion involving the functionally related Connexin 30 locus . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Transgene expression was associated with loss of Connexin 26 and Connexin 30 from epidermal keratinocyte intercellular junctions and accumulation in cytoplasm . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Connexin 43 and connexin 31 are expressed in the basal and spinous layers of wild type epidermis , whereas connexin 31 and small amounts of connexin 30 , as well as connexin 26 proteins , were found in the granulous layer . ^^^ During wound healing , connexin 30 and connexin 26 proteins were upregulated in all epidermal layers , whereas connexin 43 and connexin 31 protein expression were downregulated . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Frequency and distribution of GJB 2 ( connexin 26 ) and GJB 6 ( connexin 30 ) mutations in a large North American repository of deaf probands . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Connexin 30 deletion analysis in connexin 26 heterozygotes . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Use of a multiplex PCR / sequencing strategy to detect both connexin 30 ( GJB 6 ) 342 kb deletion and connexin 26 ( GJB 2 ) mutations in cases of childhood deafness . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Recently , a deletion truncating the GJB 6 gene ( encoding connexin 30 ) , near GJB 2 on 13q12 , was shown to be the accompanying mutation in approximately 50 % of these deaf GJB 2 heterozygotes in a cohort of Spanish patients , thus becoming second only to 35delG at GJB 2 as the most frequent mutation causing prelingual hearing impairment in Spain . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| It has been shown that patients who are compound heterozygous for a 342 kb deletion ( Delta ( GJB 6 D13S1830 ) ) involving a large portion of the 5 ' part of GJB 6 , encoding connexin 30 , and a GJB 2 mutation develop NSHL due to a trait with a digenic pattern of inheritance . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| In the inner ear , only the cell distributions of connexin 30 and connexin 26 have been well documented . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Among probands diagnosed with nonsyndromic hearing loss not due to mutations of connexin 26 ( GJB 2 ) and / or connexin 30 ( GJB 6 ) , and below the age of 10 , 2 of 20 ( 10 % ) were homozygous for the R245X mutation . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| We aimed at assessing the occurrence of the recently described del ( GIB 6 D13S1830 ) mutation , occurring in the connexin 30 gene , in a group of Italian hearing impaired patients carrying a single GJB 2 mutated allele . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Longitudinal phenotypic analysis in patients with connexin 26 ( GJB 2 ) ( DFNB 1 ) and connexin 30 ( GJB 6 ) mutations . ^^^ In 15 Belgian subjects with prelingual sensorineural hearing impairment , the connexin 26 ( GJB 2 ) gene and the connexin 30 ( GJB 6 ) gene were analyzed for the presence of the 35delG mutation and the delta ( GJB 6 D13S1830 ) deletion first described by del Castillo et al in 2002 . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| To investigate the role of heterozygous Cx 31 variations for a possibly combination allelic disease inheritance with Cx 26 mutations as shown for Connexin 30 and Connexin 26 , patients with Cx 26 variations were tested . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Thirty two genes causing non syndromic hearing impairment ( NSHI ) have been cloned , including GJB 2 and GJB 6 encoding the gap junction subunits connexin 26 and connexin 30 , respectively . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Mutations in the coding sequence of the connexin 26 ( C 10 26 ) and the connexin 30 genes were examined in some of the families . ^^^ Mutations in connexin 26 and the deletion in connexin 30 were diagnosed in 9 / 18 families tested . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| We have also identified in heterocigosity the 342 kb deletion of connexin 30 ( GJB 6 , locus DFNB 1 on 13q12 ) in one family . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Hearing impairment in Dutch patients with connexin 26 ( GJB 2 ) and connexin 30 ( GJB 6 ) mutations . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| A novel deletion involving the connexin 30 gene , del ( GJB 6 d13s1854 ) , found in trans with mutations in the GJB 2 gene ( connexin 26 ) in subjects with DFNB 1 non syndromic hearing impairment . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Here we show that the synthesis of the GJ proteins connexin 26 and connexin 30 ( Cx 26 and Cx 30 ) is induced in keratinocyte derived epithelial skin tumors whereas there is either no change or a downregulation of Cx 43 . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Ethnicity and mutations in GJB 2 ( connexin 26 ) and GJB 6 ( connexin 30 ) in a multi cultural Canadian paediatric Cochlear Implant Program . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Genetic and auditory studies of 731 children with severe to profound hearing loss in US schools for the deaf and 46 additional children receiving clinical services for hearing loss ranging from moderate to profound demonstrated that mutations in the connexin 26 ( GJB 2 ) and connexin 30 ( GJB 6 ) genes explain at least 12 % of those with nonsyndromic sensorineural deafness . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| INTRODUCTION : The most frequent mutations responsible for non syndromic hearing impairment in the Spanish population are the 35delG mutation in the connexin 26 gene ( GJB 2 ) , the del ( GJB 6 D13S1830 ) deletion in the connexin 30 gene ( GJB 6 ) , the Q829X mutation in the otoferlin gene ( OTOF ) , and the A1555G mutation in the 12S rRNA gene of the mitochondrial genome . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| RESULTS : In the involved families three heterozygous mutations could be detected in the connexin 26 ( GJB 2 ) and connexin 30 ( GJB 6 ) genes . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| To elucidate the role of the spiral limbus in glucose transport in the cochlea , we analyzed the expression and localization of GLUT 1 , connexin 26 , connexin 30 , and occludin in the spiral limbus of the rat cochlea . ^^^ GLUT 1 , connexin 26 , connexin 30 , and occludin were also expressed in fibrocytes just basal to the supralimbal lining cells . ^^^ Connexin 26 and connexin 30 were present among not only these GLUT 1 positive fibrocytes but also GLUT 1 negative fibrocytes . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness ( DFNB 1 and DFNA 3 ) and limb girdle muscular dystrophy type 2C ( LGMD2C ) . ^^^ Two forms of inherited childhood nonsyndromic deafness ( DFNB 1 and DFNA 3 ) and a Duchenne like form of progressive muscular dystrophy ( LGMD2C ) have been mapped to the pericentromeric region of chromosome 13 . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Since it has been reported that another gene for dominant non syndromic hearing loss ( DFNA 3 ) has been mapped to the same region as the first gene for recessive hearing loss ( DFNB 1 ) , it is possible that different mutations in the DFNB 2 gene may result in either dominant or recessive hearing loss . . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| During the characterization of TUBA 2 , the gene encoding connexin 26 was proven to be responsible for both DFNB 1 and DFNA 3 ( D . ^^^ This gene is located in the 13q11 region and has been considered a candidate gene for two nonsyndromic deafnesses , DFNB 1 and DFNA 3 . ^^^ Neither rearrangement nor point mutation was found in the coding region of the gene in DFNB 1 and DFNA 3 affected patients . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Mutations in the connexin 26 ( Cx 26 ) gene ( GJB 2 ) at 13q11 q 13 are a major cause of autosomal recessive hearing loss ( DFNB 1 ) , but have also been reported in autosomal dominant deafness ( DFNA 3 ) . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| The gene responsible for DNFB 1 and DFNA 3 , connexin 26 ( GJB 2 ) , was recently identified and more than 20 disease causing mutations have been reported so far . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Mutations in GJB 2 have also been found to be associated with dominant nonsyndromic hearing loss , DFNA 3 . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Cx 26 has been implicated in dominant ( DFNA 3 ) and recessive ( DFNB 1 ) forms of nonsyndromic sensorineural deafness . ^^^ While most homozygous DFNB 1 Cx26 mutations result in a simple loss of channel activity , it is less clear how heterozygous mutations in Cx 26 linked to DFNA 3 cause hearing loss . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| The connexin 26 gene ( GJB 2 ) has been shown to be responsible for DFNB 1 and DFNA 3 ( Autosomal Recessive Hereditary Nonsyndromic Deafness Locus 1 and Autosomal Dominant Hereditary Nonsyndromic Deafness Locus 3 ) . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| The GJB 2 mutation R75Q can cause nonsyndromic hearing loss DFNA 3 or hereditary palmoplantar keratoderma with deafness . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Mutations in GJB 6 cause nonsyndromic autosomal dominant deafness at DFNA 3 locus . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Mutations in four members of the connexin gene family have been shown to underlie distinct genetic forms of deafness , including GJB 2 [ connexin 26 ( Cx 26 ) ] , GJB 3 ( Cx 31 ) , GJB 6 ( Cx 30 ) and GJB 1 ( Cx 32 ) . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Mutations in GJB 1 , GJB 2 , GJB 3 and GJB 6 are involved in hearing impairment . ^^^ GJB 2 , GJB 3 and GJB 6 are also mutated in patients with hyperproliferative skin disorders . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Gap junctions may include GJB 2 , GJB 3 and GJB 6 . ^^^ The importance of K+ cycling is underscored by the fact that mutations of KCNQ 1 , KCNE 1 , KCNQ 4 , GJB 2 , GJB 3 and GJB 6 lead to deafness in humans and that null mutations of KCNQ 1 , KCNE 1 , KCNJ 10 and SLC12A2 lead to deafness in mouse models . . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| The combination of mutations in the GJB 2 and GJB 6 ( Cx 30 ) genes also cause childhood hearing impairment . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Deafness results from mutations of KCNQ 4 , a K ( + ) channel in the sensory hair cells , as well as from mutations of the gap junction proteins GJB 2 , GJB 3 and GJB 6 that may facilitate cell to cell movements of K ( + ) . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| None of them had mutations in exon 1 of GJB 2 and or the 342 kb deletion of GJB 6 . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Several connexin genes ( GJB 1 , GJB 2 , GJB 3 , GJB 6 and GJA 1 ) have been found mutated in patients with non syndromic and / or syndromic deafness indicating an important role of these proteins in the auditory system . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Recently , a 342 kb deletion involving GJB 6 was associated with autosomal recessive non syndromic hearing loss ( NSHL ) and in combination with a GJB 2 mutation with digenic NSHL . ^^^ We screened 393 patients with NSHL being negative or heterozygous for GJB 2 mutations for this GJB 6 deletion using a multiplex PCR . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| The frequency of GJB 2 and GJB 6 mutations in the New York State newborn population : feasibility of genetic screening for hearing defects . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| We present our findings from the molecular diagnostic screening of the GJB 2 and GJB 6 genes over a three year period , together with a population based study of GJB 2 variants . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| At least four connexins are expressed in the ear , and , although there are known mutations at > 100 loci that can cause deafness , those involving DFNB 1 , in the interval 13q11 q 12 containing the GJB 2 and GJB 6 genes coding for connexins 26 and 30 , are the most frequent cause of recessive deafness in many populations . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Genetic heterogeneity of KID syndrome : identification of a Cx 30 gene ( GJB 6 ) mutation in a patient with KID syndrome and congenital atrichia . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| We looked for GJB 2 mutations and GJB 6 deletions in 255 French patients presenting with a phenotype compatible with DFNB 1 . 32 % of the patients had biallelic GJB 2 mutations and 6 % were a heterozygous for a GJB 2 mutation and a GJB 6 deletion . ^^^ Large deletion of the GJB 6 gene in deaf patients heterozygous for the GJB 2 gene mutation : genotypic and phenotypic analysis . ^^^ Recent investigations identified a large deletion of the GJB 6 gene in trans to a mutation of GJB 2 in deaf patients . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Genes such as the gap junction protein beta 2 ( GJB 2 ) encoding for Connexin ( Cx 26 ) and GJB 6 ( Cx 30 ) are known to cause sensorineural deafness . ^^^ Autosomal recessive deafness has been linked both to the monogenetic occurrence of mutated GJB 2 or the GJB 6 deletion del ( GJB 6 D13S1830 ) and digenic GJB2 / del ( GJB 6 D13S1830 ) inheritance . ^^^ Similar to studies in other hard of hearing populations with similar or lower carrier frequencies of single GJB 2 mutations , the presence of del ( GJB 6 D13S1830 ) was not detected in any individual within the patient group . ^^^ Data therefore exclude a digenetic association of del ( GJB 6 D13S1830 ) with heterozygous GJB 2 mutations as a cause of deafness in a representative sample of the population from Eastern Austria . . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| METHODS : Mutation analysis of the genes for connexin 26 , 30 and 31 ( GJB 2 , GJB 6 and GJB 3 ) was performed in 67 patients with profound hearing loss . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Mutations in a single gene may not only cause autosomal dominant , nonsyndromic HIH , but also autosomal recessive , nonsyndromic HIH ( GJB 2 , GJB 6 , MYO 6 , MYO7A , TECTA , TMC 1 ) , and even syndromic HIH ( CDH 23 , COL11A2 , DPP 1 , DSPP , GJB 2 , GJB 3 , GJB 6 , MYO7A , MYH 9 , PCDH 15 , POU3F4 , SLC26A4 , USH1C , WFS 1 ) . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Prevalence of GJB 2 mutations and the del ( GJB 6 D13S1830 ) in Argentinean non syndromic deaf patients . ^^^ Several mutations in the GJB 2 gene and a deletion of 342 kb in GJB 6 ( delGJB 6 D13S1830 ) have been identified worldwide in patients with hearing impairment . ^^^ Of their 38 chromosomes , 71 % resulted with mutations in the GJB 2 gene and 11 % in GJB 6 . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Double heterozygosity with mutations involving both the GJB 2 and GJB 6 genes is a possible , but very rare , cause of congenital deafness in the Czech population . ^^^ Recently a large 342 kb deletion named Delta ( GJB 6 D13S1830 ) involving the GJB 6 gene was reported in Spanish and French deafness patients , either in a homozygous state or in combination with a monoallelic GJB 2 mutation . ^^^ Thirteen Czech patients with prelingual nonsyndromic sensorineural deafness carrying only one pathogenic mutation in the GJB 2 gene were tested for the presence of the Delta ( GJB 6 D13S1830 ) mutation . ^^^ One patient with a GJB 2 mutation ( 313del14 ) also carried the Delta ( GJB 6 D13S1830 ) . ^^^ This is the first reported Czech case , and probably also the first central European case , of prelingual deafness due to mutations involving both the GJB 2 and GJB 6 genes . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| In this study , we assessed the contributions made by GJB 2 mutations and chromosome 13 g . 1777179 _ 2085947del ( the deletion more commonly known as del ( GJB 6 D13S1830 ) that includes a portion of GJB 6 and is hereafter called Delta ( GJB 6 D13S1830 ) ) to the autosomal recessive non syndromic deafness ( ARNSD ) genetic load in Iran . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Alterations in the gap junction protein beta 2 ( GJB 2 ) and gap junction protein beta 6 ( GJB 6 ) are associated with nonsyndromic hearing impairment and should have a significant impact on genetic counseling . ^^^ STUDY DESIGN : Various cases of nonsyndromic hearing impairment were screened for alterations in GJB 2 and GJB 6 in this clinical study . ^^^ In hearing impaired individuals with heterozygous GJB 2 mutations the recently identified 342 kb deletion truncating GJB 6 called del ( GJB 6 D13S1830 ) as a digenetic component in hearing impairment was excluded by polymerase chain reaction . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Mutations in five gap junction genes , including GJB 2 ( Cx 26 ) , GJB 3 ( Cx 31 ) , GJB 4 ( Cx30 . 3 ) , GJB 6 ( Cx 30 ) and GJA 1 ( Cx 43 ) are known to cause inherited hearing loss and / or disorders of the skin and its appendages , often giving rise to overlapping phenotypes . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| GJB 2 and GJB 6 mutations : genotypic and phenotypic correlations in a large cohort of hearing impaired patients . ^^^ Patients A total of 256 hearing impaired patients selected on the basis of the presence of biallelic mutations in GJB 2 or the association of 1 GJB 2 mutation with the GJB 6 deletion ( GJB 6 D13S1830 ) del . ^^^ MAIN OUTCOME MEASURES : The prevalence of GJB 2 mutations and the GJB 6 deletion and audiometric phenotypes related to the most frequent genotypes . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del ( GJB 6 D13S1830 ) . ^^^ Recently , a large deletion of approximately 342 kb , encompassing the coding region of GJB 6 encoding C 10 30 , but not affecting GJB 2 , was shown to be associated with hearing loss . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Autosomal recessive and sporadic deafness in Morocco : high frequency of the 35delG GJB 2 mutation and absence of the 342 kb GJB 6 variant . ^^^ Further screening for other GJB 2 variants demonstrated the absence of other mutations ; none of these families had mutations in exon 1 of GJB 2 or the 342 kb deletion of GJB 6 . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| So , we have screened three nuclear genes : GJB 2 , GJB 3 , and GJB 6 but we have not found correlation between the phenotypic heterogeneity and variants detected in these genes . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Linkage and sequence mutation analyses of the ADOA candidate genes OPA 1 , OPA 3 , OPA 4 , and OPA 5 , including the genes WFS 1 , GJB 2 , and GJB 6 associated with recessive inherited OA or dominant LFSNHL , were performed . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| OBJECTIVE : To compare performance after cochlear implantation in children with mutations in connexin ( Cx ) 26 ( GJB 2 ) or Cx 30 ( GJB 6 ) and children with deafness of unknown etiology . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| Expression of GJB 2 and GJB 6 is reduced in a novel DFNB 1 allele . ^^^ Qualitative polymerase chain reaction based allele specific expression assays showed that expression of both GJB 2 and GJB 6 from the novel allele is dramatically reduced . ^^^ |
|
| Interacting proteins: O95452 and P29033 |
Pubmed |
SVM Score :0.0 |
| This panel , developed on a microarray , is capable of simultaneous evaluation of multiple mutations in 8 genes ( GJB 2 , GJB 6 , GJB 3 , GJA 1 , SLC26A4 , SLC26A5 and the mitochondrial genes encoding 12S rRNA and tRNA Ser [ UCN ] ) . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.57949706 |
| RESULTS : We identified a 342 kb deletion in the gene encoding connexin 30 ( GJB 6 ) , a protein that is reported to be expressed with connexin 26 in the inner ear . 0.57949706^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Microinjection of connexin 30 cRNA into Xenopus oocytes induced formation of functional gap junction channels that gated somewhat asymmetrically in response to transjunctional voltage and at significantly lower voltage ( Vo = +38 and 46 mV ) than the closely homologous connexin 26 channels ( Vo = 89 mV ) . ^^^ Heterotypic pairings of connexin 30 with connexin 26 and connexin 32 produced channels with highly asymmetric and rectifying voltage gating , respectively . ^^^ This suggests that the polarity of voltage gating and the cationic selectivity of connexin 30 are similar to those of its closest homologue , connexin 26 . . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| During the characterization of TUBA 2 , the gene encoding connexin 26 was proven to be responsible for both DFNB 1 and DFNA 3 ( D . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Connexin 26 and connexin 30 were both expressed in the spiral limbus , the spiral ligament , the stria vascularis and between supporting cells of the organ of Corti . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Mutations in the connexin 26 ( Cx 26 ) gene ( GJB 2 ) at 13q11 q 13 are a major cause of autosomal recessive hearing loss ( DFNB 1 ) , but have also been reported in autosomal dominant deafness ( DFNA 3 ) . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Connexin 26 and connexin 30 have been previously shown to be strongly expressed in the inner ear of adult rats and to be mainly colocalized . ^^^ Because intercellular connections by gap junction proteins are crucial for maturation of different tissues , we investigated the developmental expression of connexin 26 and connexin 30 in pre and postnatal rats using immunocytochemistry . ^^^ In the rat otocyst , staining for connexin 26 as well as for connexin 30 appeared at the 17th day of gestation . ^^^ In the cochlea of a 22 week old human embryo , connexin 26 and connexin 30 could be detected in the lateral wall , suggesting that both connexins also play a crucial role in function of the human inner ear . . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Human connexin 26 and connexin 30 are expressed in the same cells of the cochlea . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| The gene responsible for DNFB 1 and DFNA 3 , connexin 26 ( GJB 2 ) , was recently identified and more than 20 disease causing mutations have been reported so far . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Among these , three genes , GJB 2 , GJB 3 , and GJB 6 , encode for connexin proteins ( Connexin 26 , Connexin 31 , and Connexin 30 , respectively ) . ^^^ Expression patterns in mouse and rat cochlea indicate that Connexin 26 and Connexin 30 are expressed in the supportive cells of the cochlea , suggesting a potential role in endolymph potassium recycling . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Western blot analysis showed these fractions to be enriched in both neuronal and glial connexins , namely , connexin 26 , connexin 30 , connexin 36 and connexin 43 . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| We have studied 134 patients with severe to profound hearing loss or deafness and 13 patients with mild to moderate nonsyndromic sensorineural hearing loss in order to evaluate the prevalence of connexin 26 and connexin 30 mutations in Germany . ^^^ Mutations in the connexin 26 gene were found in 30 patients ( 22 % ) with profound to severe hearing impairment whereas only one novel single nucleotide polymorphism ( 396G > A ) in the connexin 30 gene was detected . ^^^ Among the 13 patients with mild to moderate hearing loss neither mutations in the connexin 26 nor in the connexin 30 gene could be detected . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| The effect of the deletion mutation could be due to a digenic mode of inheritance of GJB 2 and GJB 6 genes that encode two different connexins ; connexin 26 and connexin 30 , or it may abolish control elements that are important in the expression of the GJB 2 gene in the cochlea . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Mutations in four members of the connexin gene family have been shown to underlie distinct genetic forms of deafness , including GJB 2 [ connexin 26 ( Cx 26 ) ] , GJB 3 ( Cx 31 ) , GJB 6 ( Cx 30 ) and GJB 1 ( Cx 32 ) . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Connexin 26 in adult rodent central nervous system : demonstration at astrocytic gap junctions and colocalization with connexin 30 and connexin 43 . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Connexin 26 and connexin 30 have been demonstrated in the inner ear by immunohistochemistry and Northern Blot analysis . ^^^ Mutations in the genes for connexin 26 and connexin 30 have been described to be responsible for non syndromic hearing loss . ^^^ METHODS : We investigated the prevalence of connexin 26 and connexin 30 mutations in patients with profound hearing loss or deafness by SSCP analysis and sequencing . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| The connexin 26 gene ( GJB 2 ) has been shown to be responsible for DFNB 1 and DFNA 3 ( Autosomal Recessive Hereditary Nonsyndromic Deafness Locus 1 and Autosomal Dominant Hereditary Nonsyndromic Deafness Locus 3 ) . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Mutations in the gene for connexin 26 ( GJB 2 ) that cause hearing loss have a dominant negative effect on connexin 30 . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| For example , digenic interactions are now known to be an important cause of deafness in individuals who carry a single mutation at the Connexin 26 locus along with a deletion involving the functionally related Connexin 30 locus . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Transgene expression was associated with loss of Connexin 26 and Connexin 30 from epidermal keratinocyte intercellular junctions and accumulation in cytoplasm . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Connexin 43 and connexin 31 are expressed in the basal and spinous layers of wild type epidermis , whereas connexin 31 and small amounts of connexin 30 , as well as connexin 26 proteins , were found in the granulous layer . ^^^ During wound healing , connexin 30 and connexin 26 proteins were upregulated in all epidermal layers , whereas connexin 43 and connexin 31 protein expression were downregulated . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Frequency and distribution of GJB 2 ( connexin 26 ) and GJB 6 ( connexin 30 ) mutations in a large North American repository of deaf probands . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Connexin 30 deletion analysis in connexin 26 heterozygotes . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Use of a multiplex PCR / sequencing strategy to detect both connexin 30 ( GJB 6 ) 342 kb deletion and connexin 26 ( GJB 2 ) mutations in cases of childhood deafness . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| In the inner ear , only the cell distributions of connexin 30 and connexin 26 have been well documented . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Among probands diagnosed with nonsyndromic hearing loss not due to mutations of connexin 26 ( GJB 2 ) and / or connexin 30 ( GJB 6 ) , and below the age of 10 , 2 of 20 ( 10 % ) were homozygous for the R245X mutation . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Longitudinal phenotypic analysis in patients with connexin 26 ( GJB 2 ) ( DFNB 1 ) and connexin 30 ( GJB 6 ) mutations . ^^^ In 15 Belgian subjects with prelingual sensorineural hearing impairment , the connexin 26 ( GJB 2 ) gene and the connexin 30 ( GJB 6 ) gene were analyzed for the presence of the 35delG mutation and the delta ( GJB 6 D13S1830 ) deletion first described by del Castillo et al in 2002 . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| To investigate the role of heterozygous Cx 31 variations for a possibly combination allelic disease inheritance with Cx 26 mutations as shown for Connexin 30 and Connexin 26 , patients with Cx 26 variations were tested . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Thirty two genes causing non syndromic hearing impairment ( NSHI ) have been cloned , including GJB 2 and GJB 6 encoding the gap junction subunits connexin 26 and connexin 30 , respectively . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Mutations in the coding sequence of the connexin 26 ( C 10 26 ) and the connexin 30 genes were examined in some of the families . ^^^ Mutations in connexin 26 and the deletion in connexin 30 were diagnosed in 9 / 18 families tested . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| METHODS : Mutation analysis of the genes for connexin 26 , 30 and 31 ( GJB 2 , GJB 6 and GJB 3 ) was performed in 67 patients with profound hearing loss . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Hearing impairment in Dutch patients with connexin 26 ( GJB 2 ) and connexin 30 ( GJB 6 ) mutations . ^^^ We hereby describe the hearing impairment in Dutch patients with biallelic connexin 26 ( GJB 2 ) and GJB2+connexin 30 ( GJB 6 ) mutations . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| A novel deletion involving the connexin 30 gene , del ( GJB 6 d13s1854 ) , found in trans with mutations in the GJB 2 gene ( connexin 26 ) in subjects with DFNB 1 non syndromic hearing impairment . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Here we show that the synthesis of the GJ proteins connexin 26 and connexin 30 ( Cx 26 and Cx 30 ) is induced in keratinocyte derived epithelial skin tumors whereas there is either no change or a downregulation of Cx 43 . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Ethnicity and mutations in GJB 2 ( connexin 26 ) and GJB 6 ( connexin 30 ) in a multi cultural Canadian paediatric Cochlear Implant Program . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del ( GJB 6 D13S1830 ) . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Genetic and auditory studies of 731 children with severe to profound hearing loss in US schools for the deaf and 46 additional children receiving clinical services for hearing loss ranging from moderate to profound demonstrated that mutations in the connexin 26 ( GJB 2 ) and connexin 30 ( GJB 6 ) genes explain at least 12 % of those with nonsyndromic sensorineural deafness . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| INTRODUCTION : The most frequent mutations responsible for non syndromic hearing impairment in the Spanish population are the 35delG mutation in the connexin 26 gene ( GJB 2 ) , the del ( GJB 6 D13S1830 ) deletion in the connexin 30 gene ( GJB 6 ) , the Q829X mutation in the otoferlin gene ( OTOF ) , and the A1555G mutation in the 12S rRNA gene of the mitochondrial genome . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| RESULTS : In the involved families three heterozygous mutations could be detected in the connexin 26 ( GJB 2 ) and connexin 30 ( GJB 6 ) genes . ^^^ The genes GJB 2 ( Connexin 26 ) , GJB 3 ( connexin 31 ) and GJB 6 ( connexin 31 ) are located on chromosome 13q11 12 . ^^^ METHOD : Each of the exons and flanking splice regions of the connexin 26 , 30 , and 31 genes ( GJB 2 , GJB 3 , and GJB 6 ) have been analysed by direct sequencing . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| To elucidate the role of the spiral limbus in glucose transport in the cochlea , we analyzed the expression and localization of GLUT 1 , connexin 26 , connexin 30 , and occludin in the spiral limbus of the rat cochlea . ^^^ GLUT 1 , connexin 26 , connexin 30 , and occludin were also expressed in fibrocytes just basal to the supralimbal lining cells . ^^^ Connexin 26 and connexin 30 were present among not only these GLUT 1 positive fibrocytes but also GLUT 1 negative fibrocytes . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Mutations in GJB 6 cause nonsyndromic autosomal dominant deafness at DFNA 3 locus . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness ( DFNB 1 and DFNA 3 ) and limb girdle muscular dystrophy type 2C ( LGMD2C ) . ^^^ Two forms of inherited childhood nonsyndromic deafness ( DFNB 1 and DFNA 3 ) and a Duchenne like form of progressive muscular dystrophy ( LGMD2C ) have been mapped to the pericentromeric region of chromosome 13 . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Since it has been reported that another gene for dominant non syndromic hearing loss ( DFNA 3 ) has been mapped to the same region as the first gene for recessive hearing loss ( DFNB 1 ) , it is possible that different mutations in the DFNB 2 gene may result in either dominant or recessive hearing loss . . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Cx 26 has been implicated in dominant ( DFNA 3 ) and recessive ( DFNB 1 ) forms of nonsyndromic sensorineural deafness . ^^^ While most homozygous DFNB 1 Cx26 mutations result in a simple loss of channel activity , it is less clear how heterozygous mutations in Cx 26 linked to DFNA 3 cause hearing loss . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Prevalence and evolutionary origins of the del ( GJB 6 D13S1830 ) mutation in the DFNB 1 locus in hearing impaired subjects : a multicenter study . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| At least four connexins are expressed in the ear , and , although there are known mutations at > 100 loci that can cause deafness , those involving DFNB 1 , in the interval 13q11 q 12 containing the GJB 2 and GJB 6 genes coding for connexins 26 and 30 , are the most frequent cause of recessive deafness in many populations . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| We looked for GJB 2 mutations and GJB 6 deletions in 255 French patients presenting with a phenotype compatible with DFNB 1 . 32 % of the patients had biallelic GJB 2 mutations and 6 % were a heterozygous for a GJB 2 mutation and a GJB 6 deletion . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| We have also identified in heterocigosity the 342 kb deletion of connexin 30 ( GJB 6 , locus DFNB 1 on 13q12 ) in one family . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Expression of GJB 2 and GJB 6 is reduced in a novel DFNB 1 allele . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Mutations in GJB 2 have also been found to be associated with dominant nonsyndromic hearing loss , DFNA 3 . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Mutations in GJB 1 , GJB 2 , GJB 3 and GJB 6 are involved in hearing impairment . ^^^ GJB 2 , GJB 3 and GJB 6 are also mutated in patients with hyperproliferative skin disorders . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Gap junctions may include GJB 2 , GJB 3 and GJB 6 . ^^^ The importance of K+ cycling is underscored by the fact that mutations of KCNQ 1 , KCNE 1 , KCNQ 4 , GJB 2 , GJB 3 and GJB 6 lead to deafness in humans and that null mutations of KCNQ 1 , KCNE 1 , KCNJ 10 and SLC12A2 lead to deafness in mouse models . . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| The combination of mutations in the GJB 2 and GJB 6 ( Cx 30 ) genes also cause childhood hearing impairment . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Deafness results from mutations of KCNQ 4 , a K ( + ) channel in the sensory hair cells , as well as from mutations of the gap junction proteins GJB 2 , GJB 3 and GJB 6 that may facilitate cell to cell movements of K ( + ) . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| None of them had mutations in exon 1 of GJB 2 and or the 342 kb deletion of GJB 6 . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Several connexin genes ( GJB 1 , GJB 2 , GJB 3 , GJB 6 and GJA 1 ) have been found mutated in patients with non syndromic and / or syndromic deafness indicating an important role of these proteins in the auditory system . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Recently , a 342 kb deletion involving GJB 6 was associated with autosomal recessive non syndromic hearing loss ( NSHL ) and in combination with a GJB 2 mutation with digenic NSHL . ^^^ We screened 393 patients with NSHL being negative or heterozygous for GJB 2 mutations for this GJB 6 deletion using a multiplex PCR . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| It has been shown that patients who are compound heterozygous for a 342 kb deletion ( Delta ( GJB 6 D13S1830 ) ) involving a large portion of the 5 ' part of GJB 6 , encoding connexin 30 , and a GJB 2 mutation develop NSHL due to a trait with a digenic pattern of inheritance . ^^^ Phenotypic variability of non syndromic hearing loss in patients heterozygous for both c . 35delG of GJB 2 and the 342 kb deletion involving GJB 6 . ^^^ We have used a mutation specific polymerase chain reaction assay to screen NSHL patients for the presence of Delta ( GJB 6 D13S1830 ) and identified two families segregating both c . 35delG in GJB 2 and Delta ( GJB 6 D13S1830 ) . ^^^ Remarkably , the severity of hearing loss due to heterozygosity for c . 35delG in GJB 2 in conjunction with Delta ( GJB 6 D13S1830 ) is considerably different in members of the two families , ranging from congenital deafness in one to moderate / severe hearing loss with congenital onset in the other case . . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| The frequency of GJB 2 and GJB 6 mutations in the New York State newborn population : feasibility of genetic screening for hearing defects . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| We present our findings from the molecular diagnostic screening of the GJB 2 and GJB 6 genes over a three year period , together with a population based study of GJB 2 variants . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| We aimed at assessing the occurrence of the recently described del ( GIB 6 D13S1830 ) mutation , occurring in the connexin 30 gene , in a group of Italian hearing impaired patients carrying a single GJB 2 mutated allele . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Genes such as the gap junction protein beta 2 ( GJB 2 ) encoding for Connexin ( Cx 26 ) and GJB 6 ( Cx 30 ) are known to cause sensorineural deafness . ^^^ Autosomal recessive deafness has been linked both to the monogenetic occurrence of mutated GJB 2 or the GJB 6 deletion del ( GJB 6 D13S1830 ) and digenic GJB2 / del ( GJB 6 D13S1830 ) inheritance . ^^^ Similar to studies in other hard of hearing populations with similar or lower carrier frequencies of single GJB 2 mutations , the presence of del ( GJB 6 D13S1830 ) was not detected in any individual within the patient group . ^^^ Data therefore exclude a digenetic association of del ( GJB 6 D13S1830 ) with heterozygous GJB 2 mutations as a cause of deafness in a representative sample of the population from Eastern Austria . . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Double heterozygosity with mutations involving both the GJB 2 and GJB 6 genes is a possible , but very rare , cause of congenital deafness in the Czech population . ^^^ Recently a large 342 kb deletion named Delta ( GJB 6 D13S1830 ) involving the GJB 6 gene was reported in Spanish and French deafness patients , either in a homozygous state or in combination with a monoallelic GJB 2 mutation . ^^^ Thirteen Czech patients with prelingual nonsyndromic sensorineural deafness carrying only one pathogenic mutation in the GJB 2 gene were tested for the presence of the Delta ( GJB 6 D13S1830 ) mutation . ^^^ One patient with a GJB 2 mutation ( 313del14 ) also carried the Delta ( GJB 6 D13S1830 ) . ^^^ This is the first reported Czech case , and probably also the first central European case , of prelingual deafness due to mutations involving both the GJB 2 and GJB 6 genes . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| In this study , we assessed the contributions made by GJB 2 mutations and chromosome 13 g . 1777179 _ 2085947del ( the deletion more commonly known as del ( GJB 6 D13S1830 ) that includes a portion of GJB 6 and is hereafter called Delta ( GJB 6 D13S1830 ) ) to the autosomal recessive non syndromic deafness ( ARNSD ) genetic load in Iran . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Alterations in the gap junction protein beta 2 ( GJB 2 ) and gap junction protein beta 6 ( GJB 6 ) are associated with nonsyndromic hearing impairment and should have a significant impact on genetic counseling . ^^^ STUDY DESIGN : Various cases of nonsyndromic hearing impairment were screened for alterations in GJB 2 and GJB 6 in this clinical study . ^^^ In hearing impaired individuals with heterozygous GJB 2 mutations the recently identified 342 kb deletion truncating GJB 6 called del ( GJB 6 D13S1830 ) as a digenetic component in hearing impairment was excluded by polymerase chain reaction . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Mutations in five gap junction genes , including GJB 2 ( Cx 26 ) , GJB 3 ( Cx 31 ) , GJB 4 ( Cx30 . 3 ) , GJB 6 ( Cx 30 ) and GJA 1 ( Cx 43 ) are known to cause inherited hearing loss and / or disorders of the skin and its appendages , often giving rise to overlapping phenotypes . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Mutations in a single gene may not only cause autosomal dominant , nonsyndromic HIH , but also autosomal recessive , nonsyndromic HIH ( GJB 2 , GJB 6 , MYO 6 , MYO7A , TECTA , TMC 1 ) , and even syndromic HIH ( CDH 23 , COL11A2 , DPP 1 , DSPP , GJB 2 , GJB 3 , GJB 6 , MYO7A , MYH 9 , PCDH 15 , POU3F4 , SLC26A4 , USH1C , WFS 1 ) . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Prevalence of GJB 2 mutations and the del ( GJB 6 D13S1830 ) in Argentinean non syndromic deaf patients . ^^^ Several mutations in the GJB 2 gene and a deletion of 342 kb in GJB 6 ( delGJB 6 D13S1830 ) have been identified worldwide in patients with hearing impairment . ^^^ Of their 38 chromosomes , 71 % resulted with mutations in the GJB 2 gene and 11 % in GJB 6 . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| The GJB 2 mutation R75Q can cause nonsyndromic hearing loss DFNA 3 or hereditary palmoplantar keratoderma with deafness . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Autosomal recessive and sporadic deafness in Morocco : high frequency of the 35delG GJB 2 mutation and absence of the 342 kb GJB 6 variant . ^^^ Further screening for other GJB 2 variants demonstrated the absence of other mutations ; none of these families had mutations in exon 1 of GJB 2 or the 342 kb deletion of GJB 6 . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| So , we have screened three nuclear genes : GJB 2 , GJB 3 , and GJB 6 but we have not found correlation between the phenotypic heterogeneity and variants detected in these genes . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Linkage and sequence mutation analyses of the ADOA candidate genes OPA 1 , OPA 3 , OPA 4 , and OPA 5 , including the genes WFS 1 , GJB 2 , and GJB 6 associated with recessive inherited OA or dominant LFSNHL , were performed . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| OBJECTIVE : To compare performance after cochlear implantation in children with mutations in connexin ( Cx ) 26 ( GJB 2 ) or Cx 30 ( GJB 6 ) and children with deafness of unknown etiology . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| This panel , developed on a microarray , is capable of simultaneous evaluation of multiple mutations in 8 genes ( GJB 2 , GJB 6 , GJB 3 , GJA 1 , SLC26A4 , SLC26A5 and the mitochondrial genes encoding 12S rRNA and tRNA Ser [ UCN ] ) . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| GJB 2 and GJB 6 mutations : genotypic and phenotypic correlations in a large cohort of hearing impaired patients . ^^^ Patients A total of 256 hearing impaired patients selected on the basis of the presence of biallelic mutations in GJB 2 or the association of 1 GJB 2 mutation with the GJB 6 deletion ( GJB 6 D13S1830 ) del . ^^^ MAIN OUTCOME MEASURES : The prevalence of GJB 2 mutations and the GJB 6 deletion and audiometric phenotypes related to the most frequent genotypes . ^^^ |
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| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| Genetic heterogeneity of KID syndrome : identification of a Cx 30 gene ( GJB 6 ) mutation in a patient with KID syndrome and congenital atrichia . ^^^ |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P29033 and O95452 |
Pubmed |
SVM Score :0.0 |
| NA |
|