COL4A5 Antibody

1. Case Reports: female X-linked Alport syndrome patients with somatic mosaic variants in COL4A5. Phenotype severity in females could be affected by modifier gene variants. PMID: 27796712
2. although alpha5 and alpha6 (IV) chains are induced in the glomerular basement membrane in autosomal recessive Alport syndrome, their induction does not seem to play a major compensatory role PMID: 27377778
3. deletion breakpoints in five Alport syndrome-diffuse leiomyomatosis patients and show a contiguous COL4A6/COL4A5 deletion in each case, were characterized. PMID: 28275241
4. variant c.2858G>T, rs78972735, annotated as a pathogenic mutation in dbSNP and human gene mutation database (HGMD), found in four family members with no clinical traits of Alport syndrome PMID: 28827396
5. Missense mutation in exon 28 of the COL4A5 gene is associated with focal segmental glomerulosclerosis. PMID: 28604958
6. We show that collagen IV mutations, including COL4A5, frequently underlie FSGS and should be considered, particularly with a positive family history. Targeted NGS improves diagnostic efficiency by investigating many candidate genes in parallel. PMID: 26346198
7. Synonymous COL4A5 substitution responsible for X-linked Alport syndrome. PMID: 26581810
8. Sanger sequencing of these regions identified a novel splicesite mutation in intron 9 (c.547-3C>A) of the COL4A5 gene. Subsequent cDNA analysis revealed that c.547- 3C>A led to skipping of exon 10, which resulted in an in-frame deletion of 21 amino acids from the a5 chain of type IV collagen. This is the first report of the novel c.547-3C>A splicing mutation in the collagen domain of COL4A5 gene. PMID: 26866448
9. Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease. PMID: 25739341
10. Case Report: subepidermal blistering disease with autoantibodies to multiple laminin subunits which developed autoantibodies to COL4A5 associated with membranous glomerulonephropathy. PMID: 25633161
11. New COL4A5 mutations among Portuguese patients with collagen IV-related nephropathies were identified in unrelated individuals. PMID: 25307721
12. alpha5(IV), but not alpha1(IV), promotes lung cancer cell proliferation and tumor angiogenesis through non-integrin collagen receptor DDR1-mediated ERK activation. PMID: 25992553
13. New deletion in COL4A6/COL4A5 related to diffuse esophageal leiomyomatosis associated with Alport syndrome in a Chinese family. PMID: 26179878
14. We identified a nucleotide change 1226 G>A, causing amino acid substitutions of Gly to Asp at position 409, in hemizygosis in the exon 20 of COL4A5 gene (proband 16 and the 13 in Alport syndrome pedigree PMID: 25572247
15. the intima+media of IPAH vessels, collagens (COL4A5, COL14A1, and COL18A1), matrix metalloproteinase (MMP) 19, and a disintegrin and metalloprotease (ADAM) 33 were higher expressed, whereas MMP10, ADAM17, TIMP1, and TIMP3 were less abundant. PMID: 25840998
16. we report 10 intronic mutations and one exonic mutation that produce aberrant splicing, including four deep intronic mutations that produced cryptic exons. PMID: 25183659
17. 31 mutation in COL4A5 associated with autosomal dominant Alport syndrome. PMID: 24033287
18. These results broadens the mutation spectrum in the COL4A5 gene associated with Alport syndrome. PMID: 25110662
19. A novel missense mutation c.368G>A (p.Gly123Glu) in the collagen type IV alpha-5 gene (COL4A5) was found to be the genetic cause of the Alport syndrome PMID: 24522658
20. Results help to clarify the milder clinical manifestations and molecular characteristics of male X-linked Alport syndrome patients expressing the alpha5(IV) chain. PMID: 24304881
21. Case Report: female with X-linked Alport syndrome with compound heterozygous COL4A5 mutations and germ cell mosaicism. PMID: 24337245
22. The objective of the following study was to record the specificity and sensitivity of alpha5(IV) loss, smoothelin expression and PLAP expression as markers of gastrointestinal smooth muscle neoplasms PMID: 24043717
23. Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5 PMID: 22335431
24. report for the first time revealed that the frameshift mutation in the type IV collagen chain alpha5 causes only renal disease, without extrarenal lesion. PMID: 23085274
25. A novel COL4A5 mutation (g. 4400_4400+1del), was detected in a Chinese female patient with X-linked Alport syndrome and her son. PMID: 22919268
26. Certain mutations within the COL4A5 gene are associated with heterogeneous phenotypes. PMID: 21332469
27. Mutation analysis of the proband has revealed a novel nonsense mutation (c.1135C>T; Gln379X) in exon 19 of the COL4A5 gene which may lead to a more severe phenotype in affected family members. carrying this mutation PMID: 21848006
28. In this paper we improve the definition of the COL4A5/COL4A6 deletions in three Alport syndrome with diffuse leiomyomatosis. PMID: 21380622
29. expression of collagen type IV alpha5 chain in the smooth muscle BM of the gastrointestinal tract is restricted to the esophagus in humans PMID: 20951201
30. A novel COL4A5 mutation causes rapid progression to end-stage renal disease in males, despite the absence of clinical and biopsy findings associated with Alport syndrome. PMID: 20881942
31. Overexpression of HSP47 decreased the secretion of heterotrimers containing the mutant collagen alpha5(IV) chain. PMID: 21187648
32. A curated disease-specific database containing reported sequence variants in COL4A5, was developed. PMID: 20574986
33. An assay useful for mutations responsible for the most adult type Alport syndrome in the U.S. is recommended for testing individuals from families carrying one of the COL4A5 mutations tested: Cys1564Ser, Leu1649Arg or Arg1677Gln. PMID: 19919694
34. younger age at onset of ESRD associated with mutations at the 5' end of the gene PMID: 20378821
35. Severe mutations in male individuals with X-linked Alport syndrome are associated with the perimacular dot-and-fleck retinopathy. Furthermore, the retinopathy indicates that male individuals are at increased risk for renal failure before the age of 30 PMID: 19965530
36. new point mutation in a Spanish family with X-linked Alport syndrome PMID: 11961405
37. thin basement membrane disease might be caused by an abnormality of the alpha5(IV) antigen along the glomerular basement membrane PMID: 12218303
38. human CA54 protein has a natural tendency towards variants PMID: 12732331
39. This study showed abnormal composition of alpha(IV) chains in the anterior lens capsule of a patient with anterior lenticonus caused by a nonsense mutation in the COL4A5 gene. PMID: 12796257
40. absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity PMID: 14514738
41. there is no correlation between the severity of the glomerular involvement (expressed by proteinuria) and the staining of the alpha 5 chain in the EBM in females with X-linked Alport syndrome. PMID: 14531812
42. We provide a first indication that highly specialized patterns characteristic of COL4A5-COL4A6 expression in vivo arise from effects of distributed cis-acting regulatory elements on a bidirectional proximal promoter, itself transcriptionally competent. PMID: 14592452
43. critical role of COL4A5 gene mutations in the pathogenesis of Alport's syndrome. PMID: 14993485
44. Alport syndrome in French Polynesia is due to a founder mutation, a tandem duplication of 35 exons, that occurred onto a common haplotype PMID: 15149316
45. Collagen chains alpha5(IV) and alpha6(IV) were frequently absent in basement membrane from pancreatic adenocarcinoma, and their absence might be related to the invasion of cancer cells. PMID: 15211113
46. COL4A5 mutations observed in evident X-linked Alport syndrome using genomic DNA. PMID: 15780079
47. both COL12A1 and COL4A5 constitute good candidate target genes in the pathogenesis of subungual exostosis PMID: 16284948
48. The expression of the alpha5(IV)/alpha6(IV) chains was down-regulated in colorectal cancer, and the loss of expression of the alpha5(IV)/alpha6(IV) chains was associated with the hypermethylation of their promoter region. PMID: 16507901
49. analysis of conformational features of a natural break in the type IV collagen Gly-X-Y repeat PMID: 16613845
50. Immunolocalization of alpha5 type (IV)-chain collagen in the kidney may correspond to the severity of the clinical phenotype. PMID: 16940319

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HGNC: 2207

OMIM: 301050

KEGG: hsa:1287

STRING: 9606.ENSP00000331902

UniGene: Hs.369089