Article
Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2.
Journal of cellular physiology - 1 Jul 1997
Mangasarian K, Li Y, Mansukhani A, Basilico C
Abstract excerpt
FGF signaling is clearly important for proper bone development, and several autosomally dominant forms of genetic bone disorders have been mapped to FGF receptors 1, 2, and 3. We have studied the biological effects of the most commonly mutated cysteine residue in FGFR-2 which is detected in individuals with Crouzon syndrome, an autosomally dominant trait which causes premature fusion of the skull bones...
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