期刊
JOURNAL OF ENDOCRINOLOGY
卷 248, 期 2, 页码 R29-R40出版社
BIOSCIENTIFICA LTD
DOI: 10.1530/JOE-20-0285
关键词
bone diseases; osteoblast; bone formation
资金
- Italian Ministry of Health [RC2019]
This review discusses the impact of rare disorders on bone formation, such as sclerosteosis, van Buchem disease, hypophosphatasia, and Camurati-Engelmann disease. Research on these diseases can help us understand important pathways regulating bone formation, leading to new therapeutic approaches for managing common bone diseases.
Bone remodelling is a complex mechanism regulated by osteoclasts and osteoblasts and perturbation of this process leads to the onset of diseases, which may be characterised by altered bone erosion or formation. In this review, we will describe some bone formation-related disorders as sclerosteosis, van Buchem disease, hypophosphatasia and Camurati-Engelmann disease. In the past decades, the research focused on these rare disorders offered the opportunity to understand important pathways regulating bone formation. Thus, the identification of the molecular defects behind the etiopathology of these diseases will open the way for new therapeutic approaches applicable also to the management of more common bone diseases including osteoporosis.
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