25 research outputs found
The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment
Full text linkQuality of life in children with osteogenesis imperfecta treated with oral bisphosphonates (Olpadronate): a 2-year randomized placebo-controlled trial
Full text linkChanges in Cartilage Proteoglycan Structure During Ageing: Origin and Effects — A Review
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Differential transactivation of the upstream aggrecan enhancer regulated by PAX1/9 depends on SOX9-driven transactivation
No full textConsortium for osteogeneslis imperfecta mutations in the helical domain of type I collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
No full textConsortium for Osteogenesis Imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
No full textOsteogenesis imperfecta (OI) is a generalized disorder of connective tissue characterized by fragile bones andeasy susceptibility to fracture. Most cases of OI are caused by mutations in type I collagen. We have identifiedand assembled structural mutations in type I collagen genes (COL1A1 and COL1A2, encoding the proa1(I)and proa2(I) chains, respectively) that result in OI
