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FGF10

MIM.602115 5p13-p12

Wednesday 28 March 2007

FGF10 contains 3 exons and spans at least 52.7 kb.

Function

Fibroblast growth factor 10 (FGF10) signaling through FGF receptor 2 (FGFR2) is required for lung initiation. Fgf10 and Fgfr2 are important at later stages of lung development. Both Fgf10 and Fgfr2 are required for a normal branching program and for proper proximal-distal patterning of the lung.

Pathology

- germline mutations of FGF10 in

Mouse models

- Conditional gene inactivation reveals roles for Fgf10 and Fgfr2 in establishing a normal pattern of epithelial branching in the mouse lung. (19618463)

- Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model. (18773495)

References

- Entesarian, M.; Matsson, H.; Klar, J.; Bergendal, B.; Olson, L.; Arakaki, R.; Hayashi, Y.; Ohuchi, H.; Falahat, B.; Bolstad, A. I.; Jonsson, R.; Wahren-Herlenius, M.; Dahl, N. : Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nature Genet. 37: 125-128, 2005. PubMed ID : 15654336

- Hogan, B. L. M. : Morphogenesis. Cell 96: 225-233, 1999. PubMed ID : 9988217

- Milunsky, J. M.; Zhao, G.; Maher, T. A.; Colby, R.; Everman, D. B. : LADD syndrome is caused by FGF10 mutations. Clin. Genet. 69: 349-354, 2006. PubMed ID : 16630169

- Rohmann, E.; Brunner, H. G.; Kayserili, H.; Uyguner, O.; Nurnberg, G.; Lew, E. D.; Dobbie, A.; Eswarakumar, V. P.; Uzumcu, A.; Ulubil-Emeroglu, M.; Leroy, J. G.; Li, Y.; and 9 others : Mutations in different components of FGF signaling in LADD syndrome. Nature Genet. 38: 414-417, 2006. PubMed ID : 16501574

- Conditional gene inactivation reveals roles for Fgf10 and Fgfr2 in establishing a normal pattern of epithelial branching in the mouse lung. Abler LL, Mansour SL, Sun X. Dev Dyn. 2009 Aug;238(8):1999-2013. PMID: 19618463