| First Author | Hajihosseini MK | Year | 2009 |
| Journal | Dev Dyn | Volume | 238 |
| Issue | 2 | Pages | 376-85 |
| PubMed ID | 18773495 | Mgi Jnum | J:144432 |
| Mgi Id | MGI:3830925 | Doi | 10.1002/dvdy.21648 |
| Citation | Hajihosseini MK, et al. (2009) Evidence that Fgf10 contributes to the skeletal and visceral defects of an apert syndrome mouse model. Dev Dyn 238(2):376-85 |
| abstractText | Apert syndrome (AS) is a severe congenital disease caused by mutations in fibroblast growth factor receptor-2 (FGFR2), and characterised by craniofacial, limb, visceral, and neural abnormalities. AS-type FGFR2 molecules exert a gain-of-function effect in a ligand-dependent manner, but the causative FGFs and their relative contribution to each of the abnormalities observed in AS remains unknown. We have generated mice that harbour an AS mutation but are deficient in or heterozygous for Fgf10. The genetic knockdown of Fgf10 can rescue the skeletal as well as some of the visceral defects observed in this AS model, and restore a near normal level of FgfR2 signaling involving an apparent switch between ERK(p44/p42) and p38 phosphorylation. Surprisingly, it can also yield de novo cleft palate and blind colon in a subset of the compound mutants. These findings strongly suggest that Fgf10 contributes to AS-like pathologies and highlight a complexity of Fgf10 function in different tissues. Developmental Dynamics 238:376-385, 2009. (c) 2008 Wiley-Liss, Inc. |
