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  • Title: Animal models of osteopetrosis: the impact of recent molecular developments on novel strategies for therapeutic intervention.
    Author: Popoff SN, Schneider GB.
    Journal: Mol Med Today; 1996 Aug; 2(8):349-58. PubMed ID: 8796921.
    Abstract:
    Osteopetrosis comprises a group of rare metabolic diseases of skeletal development that are characterized by a generalized increase in skeletal mass resulting from reduced osteoclast-mediated bone resorption. Specific immune regulators and growth factors that influence osteoclast ontogeny and/or activation have been implicated in the pathogenesis of some of the naturally occurring mutations associated with osteopetrosis in animals. Most recently, loss-of-function experiments using transgenic mice with targeted disruptions of the c-src or c-fos proto-oncogenes have resulted in different osteoclast abnormalities that produce osteopetrosis. The information gained from these mutations in animals should continue to provide new understanding of the molecular defects associated with osteopetrosis, and to broader aspects of skeletal pathology; this should result in more effective therapeutic intervention in humans.
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