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Notch is critical for skeletal development and activity of skeletal cells, and dysregulation of Notch signaling is associated with human diseases affecting the skeleton. Inherited or sporadic mutations in components of the Notch signaling pathway are associated with spondylocostal dysostosis, spondylothoracic dysostosis and recessive brachydactyly, diseases characterized by skeletal patterning defects. Inactivating mutations of the Notch ligand<jats:italic>JAG1<\/jats:italic>or of<jats:italic>NOTCH2<\/jats:italic>are associated with Alagille syndrome, and activating mutations in<jats:italic>NOTCH2<\/jats:italic>are associated with Hajdu\u2013Cheney syndrome (HCS). Individuals affected by HCS exhibit osteolysis in distal phalanges and osteoporosis. NOTCH is activated in selected tumors, such as osteosarcoma, and in breast cancer cells that form osteolytic bone metastases. In conclusion, Notch regulates skeletal development and bone remodeling, and gain- or loss-of-function mutations of Notch signaling result in important skeletal diseases.<\/jats:p>","DOI":"10.1530\/eje-13-0115","type":"journal-article","created":{"date-parts":[[2013,4,4]],"date-time":"2013-04-04T06:59:11Z","timestamp":1365058751000},"page":"R95-R103","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":61,"title":["Mechanisms in Endocrinology: Notch signaling in skeletal health and disease"],"prefix":"10.1093","volume":"168","author":[{"given":"Stefano","family":"Zanotti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernesto","family":"Canalis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"issue":"10","key":"1_17839948","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1038\/nrn1221","volume":"4","author":"Santagati","year":"2003","journal-title":"Nature reviews. 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