Sclerostin deficiency in humans

被引：69

作者：

van Lierop, Antoon H. ^{[1
]}

Appelman-Dijkstra, Natasha M. ^{[1
]}

Papapoulos, Socrates E. ^{[1
]}

机构：

[1] Leiden Univ, Med Ctr, Ctr Bone Qual, Albinusdreef 2, NL-2333 ZA Leiden, Netherlands

来源：

BONE | 2017年 / 96卷

关键词：

Sclerostin; Sclerosteosis; Van Buchem disease; Bone formation; Bone resorption; VAN-BUCHEM-DISEASE; HYPEROSTOSIS CORTICALIS GENERALISATA; SOST GENE MUTATION; BONE-FORMATION; DENSITY DISTRIBUTION; MINERAL DENSITY; TEMPORAL BONE; FACIAL-NERVE; DELETION; LRP4;

D O I：

10.1016/j.bone.2016.10.010

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2016 Elsevier Inc. All rights reserved.

引用

页码：51 / 62

页数：12

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