FGFR1 mutant receptor activation

Stable Identifier
Homo sapiens
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The FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on whether these events occur in the germline or arise somatically (reviewed in Webster and Donoghue, 1997; Burke, 1998; Cunningham, 2007; Wesche, 2011; Greulich and Pollock, 2011). Many of the resulting mutant FGFR1 proteins can dimerize and promote signaling in a ligand-independent fashion, although signal transduction may still be amplified in the presence of ligand (reviewed in Turner and Gross, 2010; Greulich and Pollock, 2011; Wesche et al, 2011).

Literature References
PubMed ID Title Journal Year
9154000 FGFR activation in skeletal disorders: too much of a good thing

Webster, MK, Donoghue, DJ

Trends Genet 1997
21367659 Targeting mutant fibroblast growth factor receptors in cancer

Greulich, H, Pollock, PM

Trends Mol Med 2011
17552943 Syndromic craniosynostosis: from history to hydrogen bonds

Cunningham, ML, Seto, ML, Ratisoontorn, C, Heike, CL, Hing, AV

Orthod Craniofac Res 2007
9538690 Fibroblast growth factor receptors: lessons from the genes

Burke, D, Wilkes, D, Blundell, TL, Malcolm, S

Trends Biochem Sci 1998
21711248 Fibroblast growth factors and their receptors in cancer

Wesche, J, Haglund, K, Haugsten, EM

Biochem J 2011
20094046 Fibroblast growth factor signalling: from development to cancer

Turner, N, Grose, RP

Nat Rev Cancer 2010
Name Identifier Synonyms
bone development disease DOID:0080006
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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