A specific variation at Sp1 binding site is shown to be associated with increased risk of low bone mass and vertebral fracture, because of the changes the COL1A1 protein produced from one copy of the gene.
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This chain combines with another pro-alpha1(I) chain and also with a pro-alpha2(I) chain (produced by the COL1A2 gene) to make a molecule of type I procollagen.
Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome.
The functions of collagen XXIII are still unknown, although it is believed that they could be similar to other transmembrane proteins, such as collagen XIII.
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Collagens XIII, XVII, and XXV, and related proteins such as class A macrophage scavenger receptors, ectodysplasin A or the MARCO1 receptor, are also part of this group.
7. Characterization of the role of CRTAP, a gene responsible for bone collagen modification, and definition of its role in the osteogenesis imperfecta (Roy Morello and Brendan Lee)
Chemical treatments- anionic detergent: (Sodium dodecyl sulfate (SDS)), enzymatic agent (Trypsin), non-ionic detergent (Triton X-100) are all agents used to remove cells from the ECM scaffold by disrupting cellular proteins, while not affecting the mechanical strength and functional structure of the ECM through the maintenance of the collagen and elastin.
The protons can then serve two functions, namely to protonate basic groups of the collagen and neutralize solution alkali chemicals.
This downregulation sees the removal of post-transcriptional repression of TGF-β1 and TGF-β receptor type II (TGF-βRII), and consequent collagen production.
Staphyloma is marked by a thinning of sclera collagen bundles and decreased number of collagen striations.
The binding of platelets to the sub-endothelial collagen stimulates the secretion of ADP, TXA2, and serotonin present in the platelet granules.
Vitreous membrane, a layer of collagen separating the vitreous humour from the rest of the eye