Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.
that the COL11A2 gene which has previously been associated with familial osteoarthritis may play a role in pain sensitization after the development of osteoarthritis
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)
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.
Observational study of gene-disease association. (HuGE Navigator); 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
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.
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.
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