COL5A1 Antibody

1. Mutations affecting COL5A1 or COL5A2 are responsible for spectrum of mucocutaneous, ocular and facial features in 62 classical Ehlers-Danlos syndrome patients. PMID: 28485813
2. COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby PMID: 29143592
3. COL5A1 may contribute the metastasis of lung adenocarcinoma. PMID: 29702185
4. sex-specific allele combinations of BGN, COL5A1, and DCN, as well as eight miRNA recognition sequences, were associated with altered susceptibility to anterior cruciate ligament ruptures PMID: 28927971
5. Variants of the COL5A1 gene seem to influence quadriceps muscle-tendon stiffness. PMID: 27717059
6. Both in cell lines and in mouse model, the extracellular matrix receptors including the integrin ( ITGA3 and ITGA2B), collagen ( COL5A1), and laminin ( LAMA5) were significantly inhibited by curcumin at messenger RNA and protein levels. PMID: 28618934
7. Data suggest that, compared with obese white women, obese black women exhibit higher expression of HIF1A (hypoxia inducible factor 1 alpha), COL5A1 (collagen Valpha1), and COL6A1 (collagen VIalpha1) in gluteal but not abdominal subcutaneous adipose tissue depots; up-regulation of expression of these proteins correlates with reduced insulin sensitivity in black women only. PMID: 27628582
8. COL5A1 mutation is associated with Adrenocortical Adenomas. PMID: 27389594
9. Gene expression levels of three randomly selected DEGs, VCAN, COL5A1 and KCNJ16, were examined using RT-PCR in 10 ATC samples.. angiogenesis was activated by the high expression of CTHRC1, VCAN and POSTN, providing necessary nutrition for tumor cells PMID: 27599582
10. COL5A1 rs12722 was found to be associated with severity of musculoskeletal injuries but not with incidence of musculoskeletal injuries in top-level soccer players. PMID: 25583227
11. Data (including data from studies in knockout mice) suggest causative role for collagen(V)alpha1 hypersensitivity/autoimmunity in pathogenesis of atherosclerosis; both immune tolerance and reduction of plaque burden are dependent on interleukin 35. PMID: 26721885
12. Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1 is described in a mother and her two sons, who all died at an early age from arterial ruptures. PMID: 25845371
13. Individuals with the BstUI A1 allele and DpnII B2 allele of the COL5A1 gene have a high likelihood of developing symptoms of the tennis elbow PMID: 25896984
14. In conclusion, the novel main finding of this study was a significant interaction between the COL5A1 rs12722 T/C and COL12A1 rs970547 A/G variants and risk of anterior cruciate ligament injury. PMID: 25073002
15. variants within the functional COL5A1 3'-untranslated region are associated with idiopathic carpal tunnel syndrome PMID: 24966028
16. Running economy, the energy cost or oxygen uptake for a given submaximal running speed, was not associated with variants within the COL5A1gene. PMID: 25188268
17. found down-regulation of COL5A1 in osteo-induced cultures at days 21 and 28, when the mineralized matrix accumulates PMID: 25132375
18. High Collagen type V promotes the malignant phenotype of pancreatic ductal adenocarcinoma. PMID: 25449434
19. COL5A1 mutations led to structural tendon pathology and low tendon stiffness in classic Ehlers-Danlos syndrome PMID: 25122555
20. Tendon properties do not seem to be influenced by the COL5A1 rs12722 gene variant. PMID: 24643429
21. Provide evidence for a relationship between COL5A1, running performance, and joint range of motion. PMID: 24085259
22. data confirm that COL5A1 and COL5A2 are the major, if not the only, genes involved in classic Ehlers-danlos syndrome PMID: 23587214
23. The COL5A1 3'-UTR markers rs71746744, rs16399 and rs1134170 are associated with chronic Achilles tendinopathy. PMID: 23347277
24. study shows that over 90% of patients, which strictly satisfy all major Villefranche criteria for classic Ehlers-Danlos Syndrome (EDS)harbor a type V collagen defect which indicates that this is the major--if not only--cause of classic EDS PMID: 22696272
25. SNPs in the COL5A1 region, which regulate normal variation in CCT, may play a role in the thinning associated with keratoconus. PMID: 23513063
26. An large number of hydroxyproline residues were mapped to the X-positions of Gly-X-Y triplets of the alpha1(V) collagen chain. PMID: 23060441
27. Single nucleotide polymorphisms in COL5A1 gene is associated with central corneal thickness in glaucoma. PMID: 22814818
28. collagen V may be expressed in skin as different subtypes with important but distinct roles in matrix organization and stability. PMID: 22437311
29. The association between COL5A1 BstUI RFLP and sit and reach (SR) ROM in an apparently healthy and physically active cohort was investigated. The COL5A1 BstUI RFLP was found to be associated with SR ROM, particularly with increasing age. PMID: 21362053
30. The COL5A1 genotype was found to be significantly associated with performance in a 56 km ultra-endurance run. The COL5A1 gene may alter muscle-tendon stiffness. PMID: 21934170
31. This study suggests a fetal association of COL5A2 and a combined fetal-maternal association of COL5A1 with spontaneous preterm delivery. PMID: 22208904
32. Before bronchiolitis obliterans, lung transplantation patients had antibodies to Col-V,alpha1(V) & alpha2(V) but at clinical diagnosis of BOS, antibodies were restricted to alpha1(V). Lung biopsy indicating that alpha1(V)epitopes are exposed. PMID: 22132895
33. phenotypes associated directly or indirectly with the mechanical properties of musculoskeletal soft tissue [review] PMID: 21697718
34. Tendinopathic phenotype is associated with increased COL5A1 mRNA stability. PMID: 21609763
35. This is the first study to identify the COL5A1 BstUI RFLP as a marker for endurance running performance. PMID: 20798666
36. role of mutations in Ehlers-Danlos syndrome (Review) PMID: 20847697
37. GWAS summary data, COL5A1 was genome-wide significant (beta = 0.13 SD, P = 5.1 x 10(-8)), together with two additional novel loci. The second new locus (defined by rs1034200) was 5 kb from the AVGR8 gene PMID: 20719862
38. The authors found no interaction between the matrix metallopeptidase 3 rs679620 variant, the COL5A1 BstUI restriction fragment length polymorphism and range of motion measurements. PMID: 20359947
39. Investigates the association of sequence variants within COL5A1 and musculotendinous range of motion. Data suggest that the COL5A1 BstUI RFLP is independently associated with lower limb ROM. PMID: 19422640
40. Heterozygous mutations in COL3A1 is associated with arterial rupture in classic Ehlers-Danlos syndrome. PMID: 20635400
41. The formation of [alpha1(V)](3) homotrimers was considerably favored over the heterotrimer [alpha1(V)](2)alpha2(V). PMID: 20625483
42. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20719862
43. Variants within the MMP3 gene are associated with Achilles tendinopathy and the MMP3 gene variant rs679620 and the COL5A1 marker rs12722 interact to modify the risk of tendinopathy. PMID: 19042922
44. The CC genotype of the COL5A1 BstUI RFLP was underrepresented in female participants with anterior cruciate ligament ruptures. PMID: 19654427
45. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. PMID: 12145749
46. Antisense oligonucleotides reduced synthesis of type V procollagen alpha1 chain. In addition, both antisense oligonucleotides partially reduced type V procollagen alpha1 chain mRNA expression. PMID: 14504037
47. analysis of processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer PMID: 15136578
48. Finds the COL5A1 BstUI RFLP associated with Achilles tendon pathology and more specifically, chronic ATP. PMID: 16430677
49. In the eye, COL5A1 and COL5A2 mutations manifest as abnormally thin and steep corneas with floppy eyelids. PMID: 16431952
50. Collagen type V alpha 1 was efficiently cleaved by BMP-1 indicating that the triple helix is not required for enzyme activity. PMID: 17407447

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HGNC: 2209

OMIM: 120215

KEGG: hsa:1289

STRING: 9606.ENSP00000360882

UniGene: Hs.210283