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Curr Top Dev Biol. 2015;115:493-542. doi: 10.1016/bs.ctdb.2015.09.005. Epub 2015 Oct 23.

Signaling Pathways in Craniofacial Development: Insights from Rare Skeletal Disorders.

Author information

1
Department of Biochemistry and Molecular Biology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
2
Department of Biochemistry and Molecular Biology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA; Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, Los Angeles, California, USA. Electronic address: amerrill@usc.edu.

Abstract

In the developing embryo, signaling pathways define how the mesenchymal precursors of bone form individual skeletal elements with the proper size, shape, orientation, and integration. Disruptions to these signaling processes lead to a large variety of congenital conditions categorized as skeletal dysplasias. While individually these skeletal disorders are rare, collectively they represent a significant cause of disability in the United States. Here, we discuss how the study of these rare events in human development reveal novel and unexpected insights into signaling mechanisms that regulate normal skeletal development and, in the process, advance novel molecular-based therapies for treatment of rare and common bone diseases alike.

KEYWORDS:

BMP; Bone formation; Craniofacial development; FGF; Hedgehog; Notch; PTHrP; Skeletal dysplasia; TGFβ; WNT

PMID:
26589936
DOI:
10.1016/bs.ctdb.2015.09.005
[Indexed for MEDLINE]

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