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Details on Person Dominant mutations in the fibroblast growth factor receptor ...
| Class:Id | Summation:190974 |
|---|---|
| _displayName | Dominant mutations in the fibroblast growth factor receptor ... |
| _timestamp | 2014-05-28 04:51:59 |
| created | [InstanceEdit:190977] de Bono, B, 2007-01-11 11:10:20 |
| modified | [InstanceEdit:190994] de Bono, B, 2007-01-11 12:23:26 [InstanceEdit:1315493] Rothfels, K, 2011-05-31 [InstanceEdit:5577005] Matthews, Lisa, 2014-05-28 |
| text | Dominant mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified as causes of four phenotypically distinct craniosynostosis syndromes, including Crouzon, Jackson- Weiss, Pfeiffer, and Apert syndromes. FGFR2 binds a number of different FGFs preferentially, as illustrated in this pathway. FGFR is probably activated by NCAM very differently from the way by which it is activated by FGFs, reflecting the different conditions for NCAM-FGFR and FGF-FGFR interactions. The affinity of FGF for FGFR is approximately 10e6 times higher than that of NCAM for FGFR. Moreover, in the brain NCAM is constantly present on the cell surface at a much higher (micromolar) concentration than FGFs, which only appear transiently in the extracellular environment in the nanomolar range. |
| (summation) | [Pathway:190241] FGFR2 ligand binding and activation [Homo sapiens] |
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No pathways have been reviewed or authored by Dominant mutations in the fibroblast growth factor receptor ... (190974)
