Publication
Title
Human genetics of sclerosing bone disorders
Author
Abstract
Purpose of Review The group of sclerosing bone disorders encompasses a variety of disorders all marked by increased bone mass. In this review, we give an overview of the genetic causes of this heterogeneous group of disorders and briefly touch upon the value of these findings for the development of novel therapeutic agents. Recent Findings Advances in the next-generation sequencing technologies are accelerating the molecular dissection of the pathogenic mechanisms underlying skeletal dysplasias. Summary Throughout the years, the genetic cause of these disorders has been extensively studied which resulted in the identification of a variety of disease-causing genes and pathways that are involved in bone formation by osteoblasts, bone resorption by osteoclasts, or both processes. Due to this rapidly increasing knowledge, the insights into the regulatory mechanisms of bone metabolism are continuously improving resulting in the identification of novel therapeutic targets for disorders with reduced bone mass and increased bone fragility.
Language
English
Source (journal)
Current Osteoporosis Reports
Publication
New york : Springer , 2018
ISSN
1544-2241
DOI
10.1007/S11914-018-0439-7
Volume/pages
16 :3 (2018) , p. 256-268
ISI
000431895600006
Pubmed ID
29656376
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Project info
Identification and characterization of the gene underlying hyperostosis cranialis interna.
Study on the role of LRP4 in the regulation of Wnt signaling and bone formation.
Systems biology for the functional validation of genetic determinants of skeletal diseases (SYBIL).
Evaluation of the role of LRP4 in the regulation of Wnt/Bcatenin dependent Wnt signalling and bone formation.
Paget's disease of bone: molecular genetic investigation of the NFkB signaling regulating genes CBL, CBLB, and NR4A1 and functional validation in vitro and in Danio rerio.
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identifier
Creation 12.06.2018
Last edited 09.10.2023
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