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Fibrillar collagens, such as COL27A1, compose one of the most ancient families of extracellular matrix molecules. Additionally we are shipping Collagen, Type XXVII, alpha 1 Kits (9) and and many more products for this protein.
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we conclude that the novel splice-site variant identified in COL27A1 is the most likely cause for Steel syndrome in this family and that the hearing loss is part of this syndrome's phenotype
Genetic analysis between COL27A1 and Tourette syndrome was performed.
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
The results of this study found in rs7868992 on chromosome 9q32 within COL27A1 is releate to Tourette's syndrome.
This study further implicates the genomic region containing the TNC (show TNC Antibodies) and COL27A1 genes in influencing risk of Achilles tendinopathy, and maps the potential risk allele to a genetic interval flanked by rs946053 and rs2104772.
type XXVII collagen has unusual molecular features such as no minor helical domain, a major helical domain that is short and interrupted, and a short chain selection sequence within the NC1 domain
SOX9 (show SOX9 Antibodies) may play an important role in the transcriptional activation of the newest collagen gene, COL27A1.
type XXVII collagen has unusual molecular features such as no minor helical domain, a major helical domain that is short and interrupted, and a short chain selection sequence within the NC1 domain (COLLAGEN TYPE XXVII)
Results suggest that Lc-Maf (show MAF Antibodies) may affect the process of endochondral ossification by participating in the regulation of Col27a1 expression.
Fibrillar collagens, such as COL27A1, compose one of the most ancient families of extracellular matrix molecules. They form major structural elements in extracellular matrices of cartilage, skin, and tendon (Boot-Handford et al., 2003
collagen alpha-1(XXVII) chain
, procollagen, type XXVII, alpha 1
, collagen type XXVII proalpha 1 chain