Recombinant Human Collagen alpha-1(X) chain (COL10A1)

1. Plasma samples from lung cancer patients and healthy heavy-smokers controls were tested for levels of COL11A1 and COL10A1 (n = 57 each) and SPARC (n = 90 each). Higher plasma levels of COL10A1 were detected in patients (p PMID: 30227835
2. All affected individuals are heterozygous for the missense mutation collagen type X alpha 1 chain (COL10A1) rs111033552. PMID: 29234170
3. increased expression of stromal colXalpha1 and low TILs correlate with poor pathologic response in ER+/HER2+ breast tumors. Further studies are needed to confirm their predictive value and impact on long-term outcomes, and to determine whether this collagen exerts a protective effect on the cancer cells or simply reflects other factors within the tumor microenvironment PMID: 27090210
4. a novel sequence variation involving an unusual mutational site of the COL10A1 gene can cause mild metaphyseal chondrodysplasia PMID: 25542771
5. COL10A1 mutation 2005delC in a Chinese pedigree with Schmid type metaphyseal chondrodysplasia is close to the C-terminus of the protein sequence and may result in genetic heterogeneity of the Chinese population PMID: 25974987
6. Concentration of serum collagen type X levels correlated with cartilage degradation in osteoarthritis patients. PMID: 25245039
7. The results show that COL10A1 is a tumor biomarker upregulated in a wide variety of tumors including those of the breast, colon, bladder, stomach, esophagus, lung, testis, ovary and pancreas. PMID: 22894674
8. Yiqi Huayu Bushen Recipe increased the expression of aggrecan, decreased the expression of type X collagen, and promoted cell proliferation in cells from degenerated human intervertebral discs. PMID: 22015197
9. Genetic variation near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. PMID: 21665990
10. MCDS is a rare genetic skeletal disorder caused by a collagen type X defect. Though much is known about the molecular pathology of the causative COL10A1 mutations, causal therapy of the disease is not yet available PMID: 21360259
11. a frameshift mutation leading to elongation of the deduced alpha1(X) chain associated with Metaphyseal Chondrodysplasia type Schmid PMID: 21447328
12. These results indicate that nitrogen-rich plasma polymerized surfaces inhibit COL10A1 expression via the suppression of COX-1. PMID: 20225218
13. speculate that complete loss of mutant transcripts yields COL10A1 haploinsufficiency and late clinical presentation while incomplete loss of mutant transcripts yields dominant-negative effects with early clinical presentation PMID: 20872587
14. The total expression of type X collagen in the concave side growth plates of the lower end vertebrae was higher than that in the same side growth plates of apex. PMID: 20073986
15. methylation-based COL10A1 gene silencing is established in cartilage tissue and human articular chondrocytes during chondrogenesis. PMID: 18759285
16. chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells PMID: 11805116
17. The crystal structure at 2.0 A resolution of the human collagen X NC1 domain reveals an intimate trimeric assembly strengthened by a buried cluster of calcium ions. PMID: 11839302
18. The 4.6 kb promoter is able to drive specific expression of Col10a1 in hypertrophic cartilage. PMID: 15464363
19. exposure of the NC1 thiol may trigger the recognition and degradation of mutant collagen X chains PMID: 15695517
20. The effect of COL10A1 nonsense mutations in cartilage tissue has been examined in two patients, demonstrating that the mutant mRNA is completely removed by nonsense mediated mRNA decay PMID: 15880705
21. retinoids stimulate collagen X transcription IN chondrocytes PMID: 16598786
22. the triple-helical region of collagen X contains a specific DDR2 binding site that is capable of receptor activation PMID: 16806867
23. Type X collagen was not detected in any of atehrosclerotic plaques investigated in crural arteries. PMID: 17335825
24. Investigated a family affected with the Spahr type of metaphyseal chondrodysplasia. Sequencing of RMRP, and a haplotype analysis using highly informative markers around the COL10A1 excluded both genes from being pathogenic in this family. PMID: 18553549
25. HY(hypertrophy) box is the core element responsive to RUNX-2 in human COL10A1 promoter PMID: 19116917

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HGNC: 2185

OMIM: 120110

KEGG: hsa:1300

STRING: 9606.ENSP00000243222

UniGene: Hs.520339