GJB1 Antibody

1. These "periferal nervous system-only" mutations form gap junction plaques and produce levels of junctional coupling similar to those for wild-type Cx32. In contrast, mutants with central nervous system manifestations either form no morphological gap junction plaques or, if they do, produce little or no detectable junctional coupling. PMID: 28071741
2. Results show that the GJB1 (connexin 32; Cx32) mutants R75P, R75Q and R75W display variable structural conformation and dynamic behavior compared to the native protein. PMID: 29111421
3. Point mutation of GJB1 gene, encoding connexin 32, is associated with X-linked Charcot-Marie-Tooth disease. PMID: 29710024
4. Cx32 regulates the sensitivity of hepatocellular carcinoma cells to doxorubicin via the Src/FAK signaling pathway PMID: 28968929
5. Study verifies that Cx32 exerts an inhibitory effect on extrinsic apoptosis in cervical cancer (CaCx) cells, and suggests that Cx32 may regulate the progression and micro-environment of CaCx cells. PMID: 28901517
6. Cx32 is essential for cell-cell interactions that facilitate driving hESCs through hepatic-lineage maturation. PMID: 27874032
7. Study provides a novel mechanism for Cx32's anti-apoptotic effect and provides a reasonable explanation for the pro-tumor effect of Cx32 in human cervical cancer cells. PMID: 28902345
8. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed. The frequency of CMTX1 was 9.6% of total Korean CMT family and was 14.8% when calculated within genetically identified cases PMID: 28448691
9. PBX1 is one of the determinants in the Cx32 promoter targeting site, preventing further damage of gap junction protein in H. pylori-associated gastric carcinogenesis. PMID: 28839434
10. Study describes a novel mutation deleting entire P2 promoter of GJB1 gene in a single large family with X-linked Charcot-Marie-Tooth disease. Inheritance and phenotype of affected individuals had classical features of X linked peripheral neuropathy. This study affirms the role of P2 promoter being vital for Schwann cell function. PMID: 28601552
11. our results suggest that Cx32 inhibits Hepatocellular carcinoma (HCC) invasion and metastasis through Snail-mediated EMT, Cx32 and this signaling pathway molecules may offer potential targets for HCC cancer therapy PMID: 28498415
12. The study indicated that CNS impairment was not rare in Chinese CMT1X patients. Mutations in the EC2 domain of the GJB1 gene were hotspot in Chinese CMT1X patients. PMID: 28469099
13. Abnormal Cx32 expression/localization in cervical cancer appears to be both a mechanism and biomarker of chemotherapeutic resistance. PMID: 28492539
14. Study reports mutation frequency of GJB1 in 210 Hungarian Charcot-Marie-Tooth neuropathy (CMT) patients and phenotype comparison between male and female CMT X type 1 patients. 13 missense substitutions were found in GJB1; pathogenic alterations were found mainly in males. Statistical analysis of CMT X type 1 patients revealed a significant difference between genders regarding the age of onset, CMT and examination scores. PMID: 27544631
15. In conclusion, mutation screening should be first performed in intermediate Charcot-Marie-Tooth patients, especially those with additional features. The novel GJB1 variants c.5A>G, c.8G>A, c.242T>C and c.269T>C are considered pathogenic, and c.317T>C and c.434T>G are classified as probably pathogenic. PMID: 27804109
16. Certain Golgi-retained Cx32 mutants may interfere with exogenously delivered Cx32. Screening for mutant-wild type Cx32 interactions should be considered prior to planning gene addition therapy for CMT1X. PMID: 28334782
17. Clear clinical/electrophysiological sex differences (intra- and inter family) were shown in patients with hereditary motor-sensory neuropathy 1X with the small es, Cyrillic.259C>G (small er, Cyrillic.P87A) mutation in the GJB1 gene. PMID: 28399101
18. In summary, Cx32 is involved in cisplatin resistance, and cytoplasmic Cx32 plays an important role in chemoresistance. PMID: 28412364
19. Mutations in noncoding DNA of GJB1 are a major cause of CMTX1 and highlight the importance of mutations in noncoding DNA in human disease. PMID: 28283593
20. NMR study of N-terminal mutants of Connexin 26 and Connexin 32 PMID: 27378082
21. Knockdown of Cx32 by shRNA in HepG2 cells induced EMT, while overexpression of Cx32 converted EMT to mesenchymal-epithelial transition (MET) in the HepG2/DOX cells. These results suggest that Cx32 is an important regulator of DOX-induced EMT in hepatocellular carcinoma . Cx32 could be considered as a novel target to reverse DOX resistance in hepatocellular carcinoma PMID: 28260043
22. The three novel missense mutations within the GJB1 gene broaden the mutational diversity of X-linked Charcot-Marie-Tooth Disease type I (CMT1X). PMID: 27098783
23. A novel point mutation in GJB1 was detected, expanding the spectrum of GJB1 mutations known to be associated with CMTX. PMID: 25595958
24. Complete loss of connexin32 function is sufficient to produce central nervous system dysfunction with clinical manifestations. PMID: 25771809
25. Transgenic expression of hCx32 in Cx32/Cx47dKO mice resulted in almost complete rescue of behavioral abnormalities in a hypomyelinating leukodystrophy model. PMID: 25524707
26. No mutations were found in GJB1 in a cohort of 38 Italian CMT2 patients. PMID: 24819634
27. findings suggest that the cytoplasmic tail of Cx32 may be involved in regulating the permeability of gap junctions by regulating their size. PMID: 25548281
28. This study reported four novel mutations, c.191G > A, c.508G > T, c.778A > G and c.300C > G of GJB1 in four Greek families with variable clinical features and mild clinical CNS manifestations in three of them. PMID: 24768312
29. Mutations in connexin 32 gene in patients with chronic rhinosinusitis, including recurrent acute rhinosinusitis, appear to be rare PMID: 24119489
30. two different mutations at the same nucleotide position in this Argentinean family represent a finding with a very low probability of occurrence. PMID: 23384994
31. Segregation studies of GJB1 p.P58S with Sanger sequencing confirmed the presence of the variant in all affected individuals and one known carrier, and the absence of the variant in unaffected members. PMID: 23773993
32. Eendothelial Cx32 positively regulates angiogenesis by enhancing endothelial cell tube formation and cell migration. PMID: 24333598
33. This study highlights the pathogenic role of the GJB1 5' non-coding region mutations in CMT, and suggests that their identification should be considered for CMT patients without commonly observed mutations. PMID: 23827825
34. This study showed that mutation of CJB1 in patient with Charcot-Marie-Tooth disease. PMID: 23743332
35. This study demonistrated that GJB1 mutation in patient with Charcot-Marie-Tooth disease in spain. PMID: 24078732
36. Together, these findings show that specific types of connexin channels are targets that may be exploited to enhance radiotherapeutic efficacy and to formulate countermeasures to the harmful effects of specific types of ionizing radiation. PMID: 23139176
37. these results provide a new docking mechanism for the gap junction channels of Cx32 and Cx26, and probably other compatible connexins. PMID: 23687377
38. This study demonistrated that Connexin 32 is involved in mitosis and involev Locomotor impediment. PMID: 22131286
39. The antineoplastic effect of etoposide is reduced in Hela cells with a decreased gap junction intercellular communication and is enhanced in cells with an increased gap junction intercellular communication mediated by Cx26/Cx32. PMID: 22445976
40. we report a novel connexin 32 (CX32) mutation associated with cognitive impairment and a differential degree of peripheral nerve involvement PMID: 23279342
41. Schwann cells and oligodendrocytes express Cx32, and the gap junctions formed by Cx32 play an important role in the homeostasis of myelinated axons--{REVIEW} PMID: 22771394
42. Five CX32 gene mutations were detected in 6 CMT families. The male patients tend to have more serious clinical features and their electrophysiological and pathological changes are intermediate. PMID: 22944031
43. The positive charge at position 75 in Cx32 is required for normal channel function but not for gap junction assembly. PMID: 23209285
44. Mutations in GJB1 gene that cause hereditary motor-sensory neuropathy type 1 X are presented in this article. PMID: 23011429
45. The frequency of mutations in the GJB1 gene in Charcot-Marie-Tooth type 1 patients in the Greek population (4.9%) was similar to frequencies reported in other ethnic populations PMID: 22243284
46. This study suggests differences between CMTX patients with Cx32 mutations and ethnic background. PMID: 21291455
47. two pathogenic mutations in the 5' regulatory sequence of the GJB1 gene (c.-529T>C and -459C>T) PMID: 21918739
48. The influence of Cx32 and the homotypic gap junctional intercellular communication mediated by this Cx on the migration, invasion and intercellular adhesion of transfected HeLa cells, was investigated. PMID: 21687945
49. Asn(175) of Cx32 is a critical residue for heterotypic docking and functional gap junction channel formation between the Cx32 and Cx26 hemichannels. PMID: 21478159
50. We describe two families with X-linked inheritance and a phenotype consistent with CMT1X with upstream exon-splicing variant in the non-coding region of GJB1 PMID: 21504505

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HGNC: 4283

OMIM: 145900

KEGG: hsa:2705

STRING: 9606.ENSP00000354900

UniGene: Hs.333303