Brittle Bone Disease (Osteogenesis Imperfecta)
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چکیده
Brittle bone disease (Osteogenesis imperfecta first defined by McKusick in 1956, is a disease that causes extremely fragile bones. It is a (OI)), congenital disease meaning that it is present during birth. It is often caused by a defect in the gene that produces type I collagen an important building block of bone and the most abundant protein found in the body. This gene can be affected in many different ways. Osteogenesis imperfecta "results from mutation involving several genes responsible for synthesis or intercellular processing of type I collagen" (Pillion, Vernick, The severity of OI, however, depends on the of gene defect ( . & Shapiro, 2011, p.1) kind Pillion et al. , 2011, p.1)
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Cortical Tissue Porosity of Brittle Osteogenesis Imperfecta Bone
INTRODUCTION There is currently no cure for the skeletal dysplasia osteogenesis imperfecta (OI), a debilitating disease that occurs in approximately 1 in every 20,000 human births. OI is caused by a genetic mutation that results in brittle bones and many fractures. In a mouse model of the disease, oim, we have characterized bone structure using X-ray microtomography, and found that oim bone has...
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