Sixteen Years and Counting: The Current Understanding of Fibroblast Growth Factor Receptor 3 (FGFR3) Signaling in Skeletal Dysplasias

0375985 - BC 2013 RIV US eng J - Journal Article
Foldynová-Trantírková, Silvie - Wilcox, W. R. - Krejčí, Pavel
Sixteen Years and Counting: The Current Understanding of Fibroblast Growth Factor Receptor 3 (FGFR3) Signaling in Skeletal Dysplasias.
Human Mutation. Roč. 33, č. 1 (2012), s. 29-41. ISSN 1059-7794. E-ISSN 1098-1004
Grant - others:GA CR(CZ) GAP305/11/0752; GA CR(CZ) GA301/09/0587
Program: GA
Institutional research plan: CEZ:AV0Z60220518; CEZ:AV0Z50040507
Keywords : FGFR3 * chondrocyte * skeletal dysplasia * MAP kinase * FGF
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 5.213, year: 2012
http://onlinelibrary.wiley.com/doi/10.1002/humu.21636/pdf

In 1994, the field of bone biology was significantly advanced by the discovery that activating mutations in the fibroblast growth factor receptor 3 (FGFR3) receptor tyrosine kinase (TK) account for the common genetic form of dwarfism in humans, achondroplasia (ACH). Other conditions soon followed, with the list of human disorders caused by FGFR3 mutations now reaching at least 10. An array of vastly different diagnoses is caused by similar mutations in FGFR3. As FGFR3-related skeletal dysplasias are caused by growth attenuation of the cartilage, chondrocytes appear to be unique in their response to FGFR3 activation. The full spectrum of molecular events by which FGFR3 mediates its signaling is just beginning to emerge. This article describes the challenging journey to unravel the mechanisms of FGFR3 function in skeletal dysplasias, the extraordinary cellular manifestations of FGFR3 signaling in chondrocytes, and finally, the progress toward therapy for ACH and cancer.
Permanent Link: http://hdl.handle.net/11104/0208506