COL9A1 Antibody

1. the COL9A1 rs35470562 variant may contribute to congenital talipes equinovarus susceptibility in the Chinese population examined. PMID:27819742
2. We observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD. PMID:25774918
3. The study demonstrated that hypermethylation is associated with down-regulation of COL9A1 expression in osteoarthritic (OA) cartilage and highlights the pivotal role of epigenetics in OA. PMID:25048791
4. The NC2 domain of type IX collagen determines the chain composition but also the chain register of the triple helix. PMID:23132862
5. Type IX collagen interacts with fibronectin providing an important molecular bridge in articular cartilage PMID:21768108
6. A second, novel mutation was identified in COL9A1, causing autosomal recessive Stickler syndrome together with the previously described nucleotide change in two separate families. PMID:21421862
7. COL9A1 protein is highly expressed in patients with idiopathic congenital talipes equinovarus (ICTEV) and rs1135056, which is located in the coding region of COL9A1 gene, may be associated with the pathogenesis of ICTEV. PMID:21672422
8. NC2 domain of collagen IX provides chain selection and heterotrimerization PMID:20507993
9. This study extends the range of gene-mutations that can cause multiple epiphyseal dysplasia-related myopathy. PMID:20358595
10. Data show that the proximal-promoter region of the human COL9A1 gene can drive expression of a reporter gene in chondrocytic RCS cells, but not in nonchondrocytic cell lines. PMID:12399468
11. the amino-terminal NC4 domain of human collagen IX interacts with glycosaminoglycans and cartilage oligomeric matrix protein PMID:15047691
12. COMP, type IX collagen and MATN3 play important roles in matrix assembly PMID:15694129
13. A search of the microRNA database revealed a highly conserved target sequence for miR-9 immediately preceding the overlapping polyadenylation signals in the novel 3' UTR of COL9A1, suggesting its role in posttranscriptional regulation of COL9A1. PMID:16718610
14. COL9A1 is the fourth identified gene that can cause Stickler syndrome. PMID:16909383
15. analysis of the crystal structure of the N-terminal NC4 domain of collagen IX PMID:17553797
16. the matrilin-3 A-domain appears to bind exclusively to the COL3 domain of type IX collagen and this binding is abolished in the presence of a disease causing mutation in type IX collagen PMID:17881354
17. mutation causes multiple epiphyseal dysplasia; genetic heterogeneity PMID:11565064

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HGNC: 2217

UNIGENE: Hs.590892

KEGG: hsa:1297

STRING: 9606.ENSP00000349790

OMIM: 120210