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Sixteen Years and Counting: The Current Understanding of Fibroblast Growth Factor Receptor 3 (FGFR3) Signaling in Skeletal Dysplasias
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SYSNO ASEP 0375985 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Článek ve WOS Název Sixteen Years and Counting: The Current Understanding of Fibroblast Growth Factor Receptor 3 (FGFR3) Signaling in Skeletal Dysplasias Tvůrce(i) Foldynová-Trantírková, Silvie (BC-A) RID
Wilcox, W. R. (US)
Krejčí, Pavel (BFU-R)Zdroj.dok. Human Mutation. - : Wiley - ISSN 1059-7794
Roč. 33, č. 1 (2012), s. 29-41Poč.str. 13 s. Jazyk dok. eng - angličtina Země vyd. US - Spojené státy americké Klíč. slova FGFR3 ; chondrocyte ; skeletal dysplasia ; MAP kinase ; FGF Vědní obor RIV EB - Genetika a molekulární biologie Vědní obor RIV – spolupráce Biofyzikální ústav CEZ AV0Z60220518 - PAU-O, BC-A (2005-2011) AV0Z50040507 - BFU-R (2005-2011) UT WOS 000300705300005 DOI 10.1002/humu.21636 Anotace 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. Pracoviště Biologické centrum (od r. 2006) Kontakt Dana Hypšová, eje@eje.cz, Tel.: 387 775 214 Rok sběru 2013 Elektronická adresa http://onlinelibrary.wiley.com/doi/10.1002/humu.21636/pdf
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