title: Sclerostin deficiency in humans.
abstract: Sclerosteosis and van Buchem disease are two rare bone sclerosing dysplasias caused by genetic defects in the synthesis of sclerostin. In this article we review the demographic, clinical, biochemical, radiological, and histological characteristics of patients with sclerosteosis and van Buchem disease that led to a better understanding of the role of sclerostin in bone metabolism in humans and we discuss the relevance of these findings for the development of new therapeutics for the treatment of patients with osteoporosis.
authors.affiliation: Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Antoon H
authors.initials: AH
authors.lastname: van Lierop
authors.affiliation: Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Natasha M
authors.initials: NM
authors.lastname: Appelman-Dijkstra
authors.affiliation: Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: m.v.iken@lumc.nl.
authors.forename: Socrates E
authors.initials: SE
authors.lastname: Papapoulos
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D015415:Biomarkers / Q000378:metabolism; D015519:Bone Density; D019485:Bone Morphogenetic Proteins / Q000172:deficiency*; D001842:Bone and Bones / Q000473:pathology / Q000503:physiopathology; D005819:Genetic Markers; D006801:Humans; D015576:Hyperostosis / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D013576:Syndactyly / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D015415:Biomarkers; D019485:Bone Morphogenetic Proteins; D005819:Genetic Markers; C422903:SOST protein, human
keywords: Bone formation; Bone resorption; Sclerosteosis; Sclerostin; Van Buchem disease