Recombinant Human Collagen alpha-1 (XI) chain (COL11A1), partial

1. results suggested that common polymorphisms in these two candidate genes were unlikely to play major roles in the genetic susceptibility to HM. Nevertheless, to avoid filtering real myopia genes, the role of COL11A1 and COL18A1 in the pathogenesis of myopia requires more refinement in both animal models and human genetic epidemiological studies PMID: 29781737
2. These results showed that the frequency distribution of genotypes of the rs2229783 polymorphism in COL11A1 was significantly different between the Kashin-Beck Disease (KBD) and control groups; the expression level of COL11A in cartilage was significantly lower in the KBD group, but no association was found between the rs2229783 and the severity of KBD. PMID: 29773097
3. We confirmed that the rs1676486 of COL11A may be functionally associated with lumbar disc herniation (LDH) in the Chinese population. Extracellular matrix related proteins may play an important role in the pathogenesis of LDH. Our findings shed light on a better understanding of the pathogenesis of LDH, which could be a promising target for a novel treatment modality of LDH. PMID: 29321344
4. Study found one gene significantly associated when looking for associations between multiple common and rare variants with pneumococcal meningitis susceptibility, namely the COL11A1 gene. PMID: 27389768
5. The SNPs rs1337185 in COL11A1 and rs162509 in ADAMTS5 are associated with susceptibility to lumbar disc degeneration. The C allele of rs1337185 is risky for patients who are affected by lumbar pathologies such as disc herniation, stenosis and spondylolisthesis. The G allele of rs16250 represents a risk factor for the development of disc herniation. PMID: 28583914
6. Chondrogenic potential was higher and Wnt/beta-catenin signaling was more potently activated by a GSK-3beta inhibitor in the posterior than in the anterior part of the human infant sclera. PMID: 27336854
7. genetic variants of COL11A1 contribute to adult height in Chinese Han population but not to children height PMID: 27614704
8. proCOL11A1, fibroblast-activated protein, secreted protein acidic and rich in cysteine, and periostin expression was significantly increased in the intratumoral stroma of pancreatic ductal adenocarcinomas compared to paired non-neoplastic pancreata PMID: 29025374
9. we demonstrate how COL11A1 regulates twist family basic helix-loop-helix transcription factor 1-related protein 1 (TWIST1) to induce chemoresistance and inhibit apoptosis in ovarian cancer cells PMID: 28815582
10. the racial differences of COL11A1 were consistent across multiple molecular levels, with higher mutation frequency, higher methylation, and lower expression in White patients. This indicated that COL11A1 might play important roles in ESCC, especially in White population. Additional studies are needed to further explore their functions in esophageal cancer PMID: 28393072
11. Investigated genetic variants in COL11A1 predisposing to primary hip OA in Han Chinese individuals.Two SNPs (rs1241164 and rs4907986) were found to be significantly associated with hip OA risk (adjusted p = 0.000731 and 0.000477). An increased risk of OA was associated with possession of the C allele of rs1241164 and the T allele of rs4907986. PMID: 27936936
12. COL11A1 antibody can assist in distinguishing the cancer-associated desmoplastic stroma from that associated with misplaced adenomatous mucosa. It is particularly helpful when electrocautery artifacts or mucin pools interfere with the diagnosis of invasive carcinoma. However, COL11A1 has limited value in diagnosing superfically invasive carcinomas with very little desmoplastic stroma. PMID: 27021528
13. COL11A1 is overexpressed in gastric cancer tissues and regulates cell proliferation and migration. PMID: 28004111
14. COL11A1 may sever as a biomarker for metastatic NSCLC. PMID: 27373316
15. Familial linkage studies for primary angle-closure glaucoma have been performed and identified MYOC causative primary angle-open-glaucoma disease PMID: 26497787
16. No significant association of PLEKHA7 rs11024102, COL11A1 rs3753841 and PCMTD1-ST18 rs1015213 with primary angle closure glaucoma was found among ethnic Han Chinese from Sichuan PMID: 27455018
17. Analysis of 104 epithelial ovarian carcinoma patients showed that high COL11A1 mRNA levels are significantly associated with poor chemoresponse and clinical outcome. PMID: 26087191
18. These data suggest that pro-COL11A1 expression is a highly sensitive biomarker to predict malignant relapse of intraductal papilloma. PMID: 26448946
19. This meta-analysis suggests that PLEKHA7 rs11024102 is associated with PACG (primary angle closure glaucoma) in Asian population and COL11A1 rs3753841 has a genetic association with the development of PACG both in Caucasian and Asian populations. PMID: 25732101
20. High Col11A1 mRNA expression is associated with Adenocarcinoma of the Papilla of Vater and Pancreas Carcinoma. PMID: 26504042
21. Expanded spectrum of mutations in the COL11A1 and COL11A2 genes in Stickler syndrome. PMID: 25240749
22. COL11A1 expression is a promising marker of invasive breast lesions, and may be included in immunohistochemical panels aiming at identifying infiltration in problematic breast lesions. PMID: 25175819
23. The immunodetection of procollagen 11A1 in cancer-associated stromal cells could be a useful biomarker for human colon adenocarcinoma characterisation. PMID: 25417197
24. COL11A1/(pro)collagen 11A1 expression is a remarkable biomarker of human carcinoma-associated stromal cells and carcinoma progression. PMID: 25761876
25. These cases highlight both a novel dominant COL11A1 mutation causing a significant skeletal dysplasia. PMID: 25091507
26. Studies indicate that collagen type XI alpha 1 (colXIalpha1) is overexpressed at mRNA and protein levels in many cancer types. PMID: 25511741
27. proCOL11A1 is a specific marker for pancreatic cancer-associated fibroblasts, and thus, anti-proCOL11A1 is a powerful new tool for cancer research and clinical diagnostics. PMID: 24194920
28. The study demonstrates that some mutations in COL11A1 are recessive, modified by alternative splicing and result in type 2 Stickler syndrome rather than fibrochondrogenesis. PMID: 23922384
29. COL11A1 may promote tumor aggressiveness via the TGF-beta1-MMP3 axis and COL11A1 expression can predict clinical outcome in ovarian cancer patients. PMID: 23934190
30. Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PLEKHA7 are associated with an increased risk of PAC/PACG in the Han Chinese population PMID: 24854855
31. Some studies have shown the association between gene COL11A1 polymorphism c.4603C>T and intervertebral disc disease--{review} PMID: 24636772
32. The three genetic susceptibility loci for primary angle-closure glaucoma did not underlie any major phenotypic diversity in terms of disease severity or progression. PMID: 24474268
33. Axial length, anterior chamber depth and keratometry were not associated with rs3753841 or rs11024102 genotypes including after adjusting for age and sex. PMID: 23505305
34. COL11A1 allelic imbalance is common in osteoarthritis but is not a risk factor for osteoarthritis. PMID: 23497244
35. a TT genotype of COL11A1 polymorphism may be a significant risk factor for limbus vertebra in Japanese collegiate gymnasts. PMID: 22510797
36. our data shall improve the overall understanding of fibrochondrogenesis especially in surviving homozygous patients and, at least partly, explain the phenotypic variability associated with COL11A1 gene mutations. PMID: 21668896
37. study reports the first evidence that adds COL11A1 defect as a cause of Marshall syndrome with a recessive mode of inheritance PMID: 22499343
38. variants detected in COL11A1 in patients with Stickler syndrome PMID: 22189268
39. Characterize mouse monoclonal antibody specific for human procollagen 11A1 and report its use for immunohistochemistry in human breast tumor tissue. PMID: 22322826
40. Common polymorphisms in four candidate genes (COL11A1, COL18A1, FBN1 and PLOD1) were unlikely to play important roles in the genetic susceptibility to high myopia. PMID: 21527992
41. These findings identify COL11A1 as a locus for fibrochondrogenesis and indicate that there might be phenotypic manifestations among carriers. PMID: 21035103
42. Study identified 57 novel mutations including missense changes in both COL2A1 and COL11A1. PMID: 20513134
43. A statistically significant difference has been found in COL11A1 expression between normal tissue and adenomas from a familial adenomatous polyposis patient, and all adenomas give evidence of an active adenomatous polyposis coli/beta-catenin pathway. PMID: 11707154
44. sequence variations in these genes can play a role in the etiology of Robin sequence, cleft palate and micrognathia but are not common causes of these phenotypes. PMID: 12673280
45. CBF/NF-Y proteins regulate the transcription of COL11A1 by directly binding to the ATTGG sequence in the proximal promoter region PMID: 12805369
46. Six pedigrees with type 2 Stickler syndrome with mutations in COL11A1. PMID: 15286167
47. Heterozygous COL11A1 mutations were found in 10 individuals with Stickler or Marshall syndromes. PMID: 17236192
48. Type XI collagen is critical for intervertbral dis metabolism and its decrease is related to lumbar disc herniation. PMID: 17999364
49. This study is the first to show that collagen XI is present in the Golgi apparatus of normal human colon goblet cells and localizes collagen XI in both normal and malignant tissue. PMID: 18040076
50. The data above suggest that focal adhesion pathway may have a role in the pathogenesis of gastric cancer, and the expression profile of collagen genes may be a potential biomarker to distinguish malignant from premalignant lesions in stomach PMID: 19306436

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HGNC: 2186

OMIM: 120280

KEGG: hsa:1301

STRING: 9606.ENSP00000359114

UniGene: Hs.523446