COL11A2 Antibody

1. that the COL11A2 gene, which has previously been associated with familial osteoarthritis, may play a role in pain sensitization after the development of osteoarthritis PMID: 28741447
2. Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. [review] PMID: 27142990
3. Data indicate that Ala37Ser is the missense mutation located in the NC4 domain of the collagen type XI COL11A2 protein. PMID: 25633957
4. A novel mutation in COL11A2 was found in a Japanese family with non-ocular Stickler syndrome. PMID: 25780254
5. Hearing impairment in non-ocular Stickler syndrome is characterized by non-progressive hearing loss, present since childhood, and mostly mild to moderate in severity. Heterozygote mutations in COL11A2 were present in two pedigrees. PMID: 22796475
6. These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2 PMID: 22246659
7. The findings of a significant association between lip and/or palate clefts and two markers in the WNT3 and COL11A2 genes were the most consistent and were observed in all groups analysed and stratified. PMID: 22112025
8. four loci showed the strongest associations with RA (P<0.005): ZNF391, OR2H1, C6orf26-RDBP and HLA-DPB1-COL11A2. PMID: 21293383
9. A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient. PMID: 21204229
10. individuals carrying the C allele at the COL11A2 SNP site, rs2076311, had a lower risk of Kawasaki disease and had a lower probability of developing coronary artery lesions PMID: 20618517
11. differential regulation by EWS/ERG sarcoma fusion protein and wild-type ERG PMID: 12554743
12. Mutation in the COL11A2 gene was found in all affected individuals, which lends molecular support to the clinical notion that autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) and otospondylomegaepiphyseal dysplasia (OSMED)are a single entity. PMID: 15558753
13. mutation type and location are critical determinants in defining the phenotype of COL11A2 associated diseases PMID: 16033917
14. COL11A2 transcription is regulated by Sp1 proteins and by binding to its proximal promoter PMID: 16734381
15. diagnosis ofOtospondylomegaepiphyseal dysplasia was diagnosed by identifying a mutation in the COL11A2 gene that encodes the pre-pro-alpha2(XI) chain of type XI collagen that is involved in type II collagen fibrillogenesis. PMID: 18381781

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HGNC: 2187

OMIM: 120290

KEGG: hsa:1302

UniGene: Hs.390171