COL4A3 Antibody

1. Goodpasture antigen peptide alpha3127-148 was identified as a mutual T and B cell epitope in patients with anti-glomerular basement membrane disease. PMID: 28152559
2. Results showed that COL4A4 c.1471C>T and COL4A3 c.3418 + 1G>T variants in cis are pathogenic and co-segregate with the benign familial hematuria. This result suggests that COL4A3 and COL4A4 digenic mutations in cis mimicking an autosomal dominant inheritance should be considered as a novel inheritance pattern of benign familial hematuria. PMID: 29742505
3. In a large Spanish family with Alport sysndrome, carriers of certain mutations in the COL4A3 gene were more severely affected and had earlier onset of the disease compared to non-carriers of these mutations. PMID: 29089023
4. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicitymatched controls and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene. PMID: 28674241
5. Two families showed COL4A3/A4 mutations in cis, mimicking an autosomal dominant inheritance with a more severe phenotype and one showed COL4A3/A4 mutations in trans, mimicking an autosomal recessive inheritance with a less severe phenotype. In a fourth family, a de novo mutation (COL4A5) combined with an inherited mutation (COL4A3) triggered a more severe phenotype PMID: 27859054
6. Alport syndrome is the result of mutations in any of three type IV collagen genes, COL4A3, COL4A4, or COL4A5. Because the three collagen chains form heterotrimers, there is an absence of all three proteins in the basement membranes where they are expressed. (Review) PMID: 27576055
7. These findings indicate that the heterozygous mutations in COL4A3 or COL4A4 may cause ESRD on their own, although secondary factors, such as environmental factors or unknown genetic changes, might also contribute to the phenotype of kidney disease in patients with ADAS. PMID: 27281700
8. This study indicates that in our population, the COL4A3 rs55703767 polymorphism decreased the risk of KC. However, the TIMP-1 rs6609533 polymorphism was associated with an increased risk of KC. PMID: 28197741
9. mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome PMID: 28542346
10. COL4A3 gene expression is negatively regulated by ZEB1 binding to E2 box motifs in the COL4A3 promoter region. PMID: 27537263
11. COL4A3 expression is significantly downregulated in human masticatory mucosa during wound healing PMID: 28005267
12. New COL4A3 mutations among Portuguese patients with collagen IV-related nephropathies were identified in 18 unrelated families. PMID: 25307543
13. The results support the hypothesis that certain hypomorphic podocin variants may act as adverse genetic modifiers when co-inherited with COL4A3 mutations PMID: 26138234
14. Letter/Case Report: novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome. PMID: 26194984
15. we identified seven families with associated mutations in COL4A3 and COL4A4 genes and four families with associated mutations in COL4A4 and COL4A5. We did not find kindreds with digenic inheritance attributable to mutations in COL4A3 and COL4A5 PMID: 25575550
16. Functional studies in cultured podocytes transfected with wild type or mutant COL4A3 chains showed retention of mutant collagens and differential activation of the unfolded protein response cascade. PMID: 25514610
17. We found that 7 out of 70 families (10%) with familial focal segmental glomerulosclerosis in our cohort have rare variants in COL4A3 and COL4A4. PMID: 25229338
18. COL4A3 mutations cause focal segmental glomerulosclerosis. PMID: 25596306
19. A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers PMID: 25450602
20. In family 2, a novel COL4A3 missense mutation c.G2290A (p.Gly997Glu) was identified in all affected family members, who had disease ranging from isolated microscopic hematuria to end stage renal disease. PMID: 25381091
21. 10 mutation in COL4A3 associated with autosomal dominant Alport syndrome. PMID: 24033287
22. We could hypothesize that mutations in COL4A3 and COL4A4 genes are not involved in keratoconus risk in Greek population. PMID: 25083577
23. A homozygous COL4A3 mutation, c.40_63del, was identified in Alport syndrome individuals with mutant alleles inherited from each parent on partially conserved haplotypes. PMID: 23927549
24. Release of recombinant tumstatin in transgenic platelet granules led to antiangiogenic effect of platelets. PMID: 24655355
25. COL4A3 overexpression in podocytes caused chain retention in the endoplasmic reticulum associated with activation of the unfolded protein response. Mutant COL4A3 chains differentially activated the UPR pathway in human and transfected mouse cells. PMID: 24262798
26. Report monoclonal antibody against the collagen type IV alpha3NC1 domain as a marker for glomerular disease. PMID: 23515049
27. Twenty mutation pairs (50%) affected COL4A3 and 20 pairs affected COL4A4 in Alport syndrome. PMID: 24052634
28. Maintained expression of the alpha3(COLIV) chain is an early positive prognostic marker in patients with X-linked Alport symdrome. PMID: 23371956
29. Quaternary epitopes within alpha345NC1 hexamers may initiate alloimmune responses after transplant in X-linked Alport patients. PMID: 23620401
30. present a large consanguineous Turkish family with AS that was found to have a COL4A3 mutation as the cause of the disease PMID: 23297803
31. Intramolecular epitope spreading might occur before the onset of human antiglomerular basement membrane disease; autoimmunity to E(A) and E(B), especially E(B), was crucial for kidney dysfunction. PMID: 23085731
32. study found an association between lower COL4A3 mRNA expression levels and improved survival after treatment with a combination Gem/CDDP regimen for patients with advanced stage non-small cell lung cancer PMID: 23108892
33. COL4A3 expression is negatively associated with a favorable prognosis of overall, advanced, and intestinal-type gastric carcinomas. PMID: 22939955
34. Antibodies against linear epitopes on the Goodpasture autoantigen could be detected in human anti-glomerular basement membrane disease and were associated with kidney injury. PMID: 22461538
35. Tumstatin-mRNA expression level correlates with prognosis, which suggests that tumstatin-mRNA is a new potential independent marker of favorable prognosis in non-small cell lung cancer. PMID: 22473740
36. Circulating anti-GBM antibodies undetectable by ELISA could recognize cryptic and conformation-dependent epitopes restricted on col4a3. PMID: 21854504
37. Identified mutations of the COL4A5 and COL4A3 gene in five Chinese Alport syndrome families. PMID: 21143337
38. The absence of pathogenic mutations in COL4A3 gene in our large number of unrelated keratoconus patients indicates that other genetic factors are involved in the development of this disorder PMID: 20664914
39. a novel heterozygous mutation p.G291E in exon 15 of the COL4A3 in the family who presented with hematuria and mild proteinuria. PMID: 20177710
40. The expression of tumstatin gene was down-regulated in renal carcinoma tissues and cells. PMID: 19688274
41. This is the first mutational screening of COL4A3 and COL4A4 genes in keratoconus patients to establish the status of these genes and compare them to a control population. PMID: 20029656
42. the repetitive nature and relatedness of the alpha3(IV)NC1 antigenic epitopes facilitate cross-linking of pathogenic Ab, in vivo, by allowing both IgG Fab to bind to the basement membrane PMID: 19786737
43. COL4A3 mutation: from familial hematuria to autosomal-dominant or recessive Alport syndrome. PMID: 12028435
44. the quaternary organization of Goodpasture antigen demonstrates the molecular basis for the sequestration of epitopes PMID: 12193605
45. No collagen alpha3(IV) or alpha4(IV) in lens capsules of 54-day human embryos, while collagen alpha3(IV) and alpha4(IV) were detected in adult humans. PMID: 12225806
46. tumstatin binds to alpha v beta 3 integrin in a vitronectin/fibronectin/RGD cyclic peptide independent manner PMID: 12682293
47. COL4A3 gene is associated with Alport's syndrome in which males and females are severely affected. PMID: 12768082
48. In kidney, when expressed onto Col4a3(-/-) background, human alpha3(IV) chain restored expression of and co-assembled with mouse alpha4 and alpha5(IV) chains at sites where human alpha3(IV) was expressed. All three chains required for network assembly. PMID: 14507670
49. Not only nephritogenic epitope itself, but flanking sequences and conformational context of nephritogenic epitope may influence its ability to cause glomerulonephritis. (alpha3(IV)NC1) PMID: 14633133
50. COL4A3 mutations are common in thin basement membrane nephropathy PMID: 14871398

显示更多

收起更多

HGNC: 2204

OMIM: 104200

KEGG: hsa:1285

STRING: 9606.ENSP00000379823

UniGene: Hs.570065