GJB2 Antibody

1. In triple negative breast cancer, connexin 26 (Cx26) is elevated in self-renewing cancer stem cells (CSCs) and is necessary and sufficient for their maintenance. Cx26 promotes CSC self-renewal by forming a signaling complex with the pluripotency transcription factor NANOG and focal adhesion kinase (FAK), resulting in NANOG stabilization and FAK activation. PMID: 29422613
2. children with GJB2 gene mutations have phenotypic variability in terms of their results of UNHS and their degree and symmetry of hearing loss. Subjects with T/NT mutations of the GJB2 gene were more likely to pass UNHS and had milder hearing loss compared to those with T/T mutations. PMID: 30146550
3. Almost half of the children with sensorineural hearing loss carried a common deafness-related mutation, and nearly one-third carried a pathogenic mutation. At least one mutated allele was detected in 48 patients and 30 patients carried pathogenic mutations. Among all the detected mutations, the most common were GJB2 c.235delC and SLC26A4 c.919-2A>G. PMID: 30036422
4. It was shown that thiol levels increased and disulphide levels decreased in patients with autosomal recessive non-syndromic hearing loss and GJB2 gene mutations. PMID: 30055731
5. The mutation frequencies of GJB2, SLC26A4, GJB3, and mitochondrial genes were 3.04%, 3.51%, 0.16%, and 0.88%, respectively among the Hakka population of Southern China PMID: 30235673
6. In conclusion, a novel missense mutation in GJB2 (DFNA3), affecting the second extracellular domain of the protein, was identified in a family with autosomal dominant non-syndromic hearing loss. PMID: 28102197
7. our present results indicate an association between GJB2 polymorphisms (rs2274084) and NPC susceptibility. The TT genotype of GJB2 may be a risk factor for NPC. PMID: 29103018
8. Mutation in GJB2 gene is associated with deafness. PMID: 29634755
9. The p.Lys22Asn GJB2 mutation causes a dominant form of hearing loss associated with variable expression of palmoplantar keratoderma, representing a model of full penetrance, with an age-dependent effect on the phenotype PMID: 28872160
10. Bi-allelic variations in the GJB2 gene cause up to 50% of cases of newborn hearing loss. PMID: 28821934
11. GJB2 mutation is associated with hearing loss. PMID: 28405014
12. Family study implicating mutations in GJB2 and USH2A in Usher's syndrome with congenital hearing loss PMID: 29151245
13. Compared with previous studies, we found that the c.109G>A mutation allele of GJB2 was relatively lower in the profound Chinese nonsyndromic sensorineural hearing loss population in comparison to the moderate-to-profound ones, and the c.1174A>T mutation allele of SLC26A4 was relatively higher. PMID: 28786104
14. the identification of a previously identified c.100C>T mutation, and a novel homozygous mutation, c.1283C>A in TMC1, in this study supports TMC1 gene as one of the second-tier hearing loss genes, after GJB2 in India. Testing for TMC1 may be considered in all GJB2-negative nonsyndromic hearing loss cases PMID: 28862181
15. our work strongly suggests a pathogenic role for GJB3 p.V37I in various HL phenotypes and provides a quantitative assessment of the risk associated with carriage of this variant and development of HL PMID: 28489599
16. mutations in the GJB2 gene specially c.35delG are important causes of ARNSHL in the center and west of Iran PMID: 29501291
17. For the first time, a p.R75Q mutation shows intra-familial phenotypic variability. Profoundly deaf twins and their deaf maternal grandmother exhibit the p.R75Q mutation with palmoplantar keratoderma while their deaf mother shows absence of skin disorders. The twins also had a a recessive 35delG, which leads to a truncated premature protein inhibiting any action of the dominant p.R75Q mutation. PMID: 27316387
18. DFNB1 locus does not appear to be a major contributor to nonsyndromic sensorineural hearing loss (NSSHL) in Sao Tome and Principe. However, the presence of both pathogenic and likely pathogenic mutations in GJB2 suggests that GJB2-related NSSHL might still occur in this population. PMID: 27501294
19. Given that a previous paper suggested TMPRSS3 and GJB2 genes as responsible for a digenic form of hearing loss, our data support and reinforce this hypothesis. PMID: 28263784
20. a series of molecular dynamics simulations has been performed to investigate the effect of applied static and alternating electric fields on the stability and conformation of human connexin26 hemichannel. PMID: 28259639
21. The homozygous mutation c.35delG was identified as the cause of hearing loss in six participants (12%). The mutation c.506G>A was identified in three affected individuals (6%). The allelic frequency (14%) and low percentage of individuals that were homozygous (12%) and heterozygous (2%) for the c.35delG mutation suggest that there are other genes responsible for nonsyndromic deafness in the UAE population. PMID: 29016196
22. We performed simultaneous hearing screening and genetic screening targeting four common deafness mutations (p.V37I and c.235delC of GJB2, c.919-2A>G of SLC26A4, and the mitochondrial m.1555A>G) in 5173 newborns at a tertiary hospital between 2009 and 2015,We delineated the longitudinal auditory features of the highly prevalent GJB2 p.V37I mutation on a general population basis PMID: 27308839
23. The proportion of carriers for GJB2 gene mutations in patients with hearing loss from southern Zhejiang has reached 21.5%. PMID: 28777850
24. Genotype may affect deafness severity, but environmental and other genetic factors may also modulate the severity and evolution of GJB2-GJB6 deafness PMID: 29106882
25. results suggest that GJB2 and CIB2 are common cause of hearing loss in different Pakistani ethnicities PMID: 29086887
26. GJB2 and ERO1LB are implicated in pancreatic cancer progression and can be used to predict patient survival PMID: 28177904
27. Significant proportion of children with unilateral sensori-neural hearing loss may have positive genetic testing while the vast majority of these children present with heterozygous mutations of connexin 26 (GJB2) PMID: 27466889
28. WFS1 and GJB2 mutations were identified in eight of 74 cases of Low-Frequency Sensorineural Hearing Loss. Four cases had heterozygous WFS1 mutations; one had a heterozygous WFS1 mutation and a heterozygous GJB2 mutation; and three cases had biallelic GJB2 mutations. Three cases with WFS1 mutations were sporadic; two of them were confirmed to be caused by a de novo mutation based on the genetic analysis of their parents. PMID: 28271504
29. results demonstrate that 19.2% patients with nonsyndromic deafness were caused by mutations in three common deafness genes (GJB2, SLC26A4 and 12S rRNA) in our northern China patient group PMID: 28583500
30. GJB2-related deafness leads to significantly better cochlear implantation outcomes when compared with acquired deafness caused by environmental etiologies. However, GJB2 mutation is not associated with a significantly better prognosis when compared with those whose deafness results from either nonsyndromic hearing loss of unknown origin or other types of genetic mutations in the absence of other neurologic deficits. PMID: 28322114
31. expression of Cx26 (also known as GJB2) in HeLa cells specifically enhances cell motility in scrape wounding and sparse culture models. PMID: 27777264
32. Results found that the contribution of the GJB2 gene pathogenic variants to hearing impairment in the population of the Sakha Republic was the highest among all of the regions of Asia studied previously suggesting that extensive accumulation of the c.-23+1G>A pathogenic variant in the indigenous Yakut population may indicate the possible selective advantage of the c.-23+1G>A carriers living in the subarctic climate. PMID: 27224056
33. These findings suggest that Cx26 mutants that promote cell death or exert transdominant effects on other connexins in keratinocytes will lead to skin diseases and hearing loss PMID: 28428247
34. Cx26-Asp50Asn with the second-site mutations identified in the patient displayed no formation of gap junction channel plaques. We argue that the second-site mutations independently inhibit Cx26-Asp50Asn expression in gap junction channels, reverting the dominant negative effect of the p.Asp50Asn mutation PMID: 28158657
35. Cx26 and Cx30 proteins thus seem not to be co-expressed but to form closely associated assemblies of gap junction plaques. PMID: 26941236
36. We attempted to identify the genetic epidemiology of hereditary hearing loss among the Chinese Han population using next-generation sequencing The entire length of the genes GJB2, SLC26A4, and GJB3 were sequenced from 116 individuals suffering from hearing loss. In our study, SLC26A4 and GJB2 were the most frequently affected genes among the Chinese Han population with hearing loss. PMID: 27610647
37. Deafness associated with G109V could result from decreased GJCs activity, whereas deafness associated to L10P may have a more complex mechanism that involves changes in HC permeability. PMID: 26769242
38. Somatic mutation in GJB2 gene cause nevoid spiny hyperkeratosis. PMID: 27087580
39. There was a high prevalence of IVS1+1G>A mutation in this sample of deaf families in Syria. PMID: 28012540
40. homozygous GJB2 c.109G[A mutation may be a cause of sudden death involving both ears. PMID: 26119842
41. study suggests that the GJB2 235delC polymorphism, but not the 30-35delG variant, contributes to congenital deafness susceptibility in the Chinese population examined PMID: 28198501
42. We report here a non consanguineous assortatively mating hearing impaired family with one of the hearing impaired partners, their hearing impaired sibling and hearing impaired offspring showing compound heterozygosity in the GJB2 gene, involving a dominant mutation p.R184Q and two recessive mutations p.Q124X and c.IVS 1+1G>A in a unique triallelic combination. PMID: 27481527
43. There are more than 39 deafness genes reported to cause non-syndromic hereditary hearing loss (HHL) in Iran, of which the most prevalent causative genes include GJB2, SLC26A4, MYO15A, and MYO7A. In addition, we highlight some of the more common genetic causes of syndromic HHL in Iran. [review] PMID: 27743438
44. Two GJB2 mutations, c.del35G with an allele frequency of 4.7 % and R32C (3.7 %) were detected in Mauritanian children with non-syndromic hearing loss. PMID: 27067584
45. Our results showed that the GJB2 gene is a major contributor to non syndromic hearing loss in Morocco PMID: 27169813
46. Compound heterozygous variants c.94C > T (p.R32C) and c.235delC (p.L79Cfs*3) in the GJB2 gene were identified in the two patients of an autosomal recessive non-syndromic hearing loss family, and the heterozygous GJB2 c.94C > T and c.235delC variants were identified in his unaffected father and mother, respectively. PMID: 27045574
47. mutations detected in 35 of 156 deaf patients PMID: 27066914
48. GJB2 gene mutations are highly prevalent in pre-lingual hearing loss patients from China. 83.64% of the 330 patients carried variations in the GJB2 gene. Seventeen different genotypes were identified. A total of 31.2% of the patients carried 2 confirmed pathogenic mutations. The frequency of c.235delC was higher than that reported previously in the Jiangsu province. PMID: 27534436
49. GJB2 gene mutation is the most common mutation for congenital hearing loss in Chinese newborns. PMID: 25649612
50. 48.67% of the patients were identified with hereditary hearing loss caused by mutations in GJB2, SLC26A4, and mtDNA12SrRNA. PMID: 27247933

显示更多

收起更多

HGNC: 4284

OMIM: 121011

KEGG: hsa:2706

STRING: 9606.ENSP00000372295

UniGene: Hs.524894