GJA8 Antibody

1. this study identified the genetic susceptibility of GJA8 polymorphisms on ARC and provides new clues for fully understanding the pathological mechanism of GJA8 variants in affecting lens opacity PMID: 30349978
2. The mutation c.139G>A in the GJA8 gene detected in the present study was also previously reported in Caucasian and Chinese families but with different phenotypes, i.e. nuclear and nuclear pulverulent cataracts. Thus, the mutation c.139G>A in GJA8 appears to exhibit marked interfamilial phenotypic variability. PMID: 30262699
3. The p.V44M mutation in the GJA8 gene was the most common mutation and was due to a founder effect within the Chinese congenital cataract cohort studied. PMID: 30078984
4. GJA8 is the newly identified genetic cause of familial congenital cataract. PMID: 29434075
5. Data indicate de novo heterozygous mutations affecting the same codon of gap junction alpha-8 protein (GJA8) p.(Gly94Glu) and p.(Gly94Arg) )in 2 of the probands, in addition to the p.(Asp51Asn) mutation previously identified in the third case. PMID: 28455998
6. Study identified two novel missense mutations within P59 and R76 of Cx50 that are associated with autosomal dominant congenital cataracts (ADCC). Functional analysis showed that Cx50R76H localized at appositional membranes forming gap junctions with enormous cytoplasmic protein accumulation, whereas the Cx50P59A mutation was found inefficient at forming detectable plaques. PMID: 27216975
7. The novel insert mutation in the TM2 domain of Cx50 protein, which impairs its trafficking to the cell membrane and gap-junction function, is associated with the cataract formation in this Chinese pedigree. PMID: 29489419
8. study demonstrates that the mutant protein localized to the plasma membrane and formed functional intercellular channels. These data suggest that GJA8 c.658A>G is most likely a benign rare variant PMID: 28827829
9. The missense mutation c.139G > A in GJA8 gene is associated with autosomal dominant congenital cataract in a six-generation Chinese family. The result of this present study provides further evidence that the p. D47N mutation in CX50 is a hot-spot mutation. PMID: 28526010
10. The c.433G > T (p.G145W) mutation in the GJA8 gene was first reported to our best knowledge. The results of our study would further broaden the mutation spectrum of GJA8 associated with congenital cataract. PMID: 27785597
11. These results indicated that the mutant Cx50 (S276F) might inhibit the function of gap junction channel in a dominant negative manner, but inhibit the hemichannel function in a recessive negative manner. PMID: 26174669
12. GJA8 mutation (p.V44A) is associated with autosomal dominant congenital cataract. PMID: 25517998
13. This is a novel missense mutation [c.829C > T, (p.H277Y)] identified in exon 2 of Cx50. PMID: 25947639
14. We have used trio-based exome sequencing to uncover a recurrent missense mutation in CRYGD and two novel missense mutations in GJA8 associated with autosomal dominant cataract in three nuclear families. PMID: 25403472
15. Tthe molecular consequences of the p.P88T mutation in GJA8 include changes in connexin 50 protein localization patterns. PMID: 24535056
16. A recurrent missense mutation c.773C>T (p.S258F) in exon 2 of the gap junction protein alpha 8 gene (GJA8) was identified in the proband with nuclear cataract. PMID: 25301372
17. structural bases of the varied functional consequences of Cx50 missense mutations, were determined. PMID: 25003127
18. Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. PMID: 24281366
19. The results provide a molecular basis for the formation of various cataract phenotypes in human patients with Cx50 mutations. PMID: 24005045
20. a novel G>A mutation of GJA8 in a three-generation Chinese pedigree was associated with perinuclear opacities of the lens involving the nucleus PMID: 23555834
21. Data indicate that after inhibition of new protein synthesis with cycloheximide, CX50fs disappeared much more rapidly than CX50, suggesting increased degradation of the mutant. PMID: 23720739
22. A novel connexin 50 gene (GJA8) mutation, resulting in the amino substitution p. D47H in a Chinese family with nuclear and zonular pulverulent congenital cataracts, is reported. PMID: 23592913
23. A PDZ-binding motif and ZO-1 protein are necessary for Cx50 intercellular channel formation PMID: 21965293
24. A missense D47N mutation in GJA8 is associated with autosomal dominant congenital cataract in a Chinese family. PMID: 21921990
25. Mutations in GJA8 and CRYAA were identified in three Chinese families with cataract and microcornea. PMID: 21686328
26. The G46V and W45S mutations of connexin 50 are in adjacent amino acids. W45S inhibits gap junctional channel function while G46V reduces cell viability by forming open hemichannels. PMID: 21228318
27. Two novel nonsynonymous variations and four reported variations in CRYAB, CRYGC, CRYGD, and GJA8, were observed. PMID: 21423869
28. the gap junction protein-alpha 8 polymorphisms may have a role in age-related cataracts PMID: 20582632
29. The D47N mutation of Cx50 causes the hereditary nuclear cataract in this family in an autosomal dominant mode of inheritance with incomplete penetrance. PMID: 21174522
30. This report is the first to relate p.R198W mutation in GJA8 with congenital cataract-microcornea syndrome. PMID: 20806042
31. This study has identified a novel missense mutation located in the carboxyl terminus of GJA8 (S258F) associated with autosomal dominant nuclear cataract. PMID: 20597646
32. A novel mutation in GJA8 was detected in a Chinese family with autosomal dominant congenital nuclear cataract, providing clear evidence of a relationship between the genotype and the corresponding cataract phenotype. PMID: 20019893
33. the C-terminus of human Cx50 is involved in pHi sensitivity, but has little influence over single-channel conductance, voltage dependence, or gating kinetics. PMID: 11944087
34. Study confirmed that GJA8 plays a vital role in the maintenance of human lens transparency and its mutation could be the genetic defect causing autosomal dominant congenital cataract . PMID: 15696487
35. The pulverulent cataract described in this family is associated with a novel GJA8 mutation and has a different clinical phenotype from previously described GJA8 mutants. PMID: 16397066
36. This is the first report of mutations in GJA8 (connexin50) to be associated with autosomal dominant cataract and microcornea. PMID: 16604058
37. Resultsdemonstrated that Cx50 hemichannels gating control can be cooperated by CaM and Ca2+. PMID: 16740131
38. Matched case-control and family study indicate that Cx50 may play a role in the genetic susceptibility to schizophrenia. PMID: 17412882
39. Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. PMID: 17601931
40. Five novel mutations in CRYAA, CRYGD, and GJA8 genes were detected in congenital cataract in association with microcornea PMID: 17724170
41. Pulverulent cataracts present in members of a family are associated with a novel mutation, Cx50D47N, that acts as a loss-of-function mutation. The consequent decrease in lens intercellular communication may contribute to cataract formation. PMID: 18006672
42. A novel disease-causing mutation (D47Y) of GJA8 gene in a Chinese family with ADCC is reported. PMID: 18247306
43. This is a novel mutation identified in the first transmembrane domain (M1) of GJA8. PMID: 18334946
44. A novel GJA8 gene mutation was found to be associated with hereditary cataract in a Chinese congenital cataract family. PMID: 18334966
45. The ins776G mutation most likely causes a recessive triangular cataract with variable expressivity of a weak phenotype in heterozygotes. PMID: 18483562
46. A p.P88Q mutation in GJA8 associated with Y-sutural cataract in a family of Indian origin, is reported. PMID: 18587493
47. The biochemical results indirectly suggest a potential novel mechanism by which connexin mutants could lead to cataracts. PMID: 19684000
48. Direct sequencing of the PCR product produced from lens cDNA showed that the proband was heterozygous for a G>T transition at position 741 of the GJA8 gene, encoding the exchange of methionine for isoleucine at position 247 of CX50. PMID: 19756179

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HGNC: 4281

OMIM: 116200

KEGG: hsa:2703

STRING: 9606.ENSP00000240986

UniGene: Hs.632441