Moosa, Shahida ORCID: 0000-0002-4463-3067 and Wollnik, Bernd (2016). Altered FGF signalling in congenital craniofacial and skeletal disorders. Semin. Cell Dev. Biol., 53. S. 115 - 126. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 1084-9521

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Abstract

The fibroblast growth factor (FGF) signalling pathway has been the focus of intense genetic and functional research for several decades. The emerging data implicate FGF signalling in diverse regulatory processes, both in the developing embryo as well as in the adult organism. Alterations in this tightly regulated pathway can lead to a number of pathological conditions, ranging from well-recognized congenital disorders to cancer. In order to mediate their cellular processes, FGFs signal through a subfamily of tyrosine kinase receptors, called FGF receptors (FGFRs). In humans, four FGFRs are described, and, to date, mutations in FGFR1, FGFR2, and FGFR3 have been shown to underlie human developmental disorders. FGFs/FGFRs are known to be key players in both endochondral and intramembranous bone development. In this review, we focus on the major developmental craniofacial and skeletal disorders which result from altered FGF signalling. (C) 2015 Published by Elsevier Ltd.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Moosa, ShahidaUNSPECIFIEDorcid.org/0000-0002-4463-3067UNSPECIFIED
Wollnik, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-276704
DOI: 10.1016/j.semcdb.2015.12.005
Journal or Publication Title: Semin. Cell Dev. Biol.
Volume: 53
Page Range: S. 115 - 126
Date: 2016
Publisher: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
Place of Publication: LONDON
ISSN: 1084-9521
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
FIBROBLAST-GROWTH-FACTOR; FACTOR RECEPTOR; ACANTHOSIS NIGRICANS; CROUZON-SYNDROME; CHONDROCYTE PROLIFERATION; THANATOPHORIC DYSPLASIA; CONSTITUTIVE ACTIVATION; DEVELOPMENT SUGGESTS; EXPRESSION PATTERNS; DEVELOPMENTAL DELAYMultiple languages
Cell Biology; Developmental BiologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/27670

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