[HTML][HTML] Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome (∗)
KM Neilson, RE Friesel - Journal of Biological Chemistry, 1995 - ASBMB
The fibroblast growth factor receptors (FGFRs) are a family of ligand-activated, membrane-
spanning tyrosine kinases. Mutations in several human FGFR genes have been identified as
playing a role in certain disorders of bone growth and development. One of these, Crouzon
syndrome, an autosomal dominant disorder causing craniosynostosis, has been associated
with mutations in the human FGFR-2 gene. We report here that microinjection of Xenopus
embryos with RNA encoding an FGFR-2 protein bearing a Cys 332® Tyr mutation (FGFR …
spanning tyrosine kinases. Mutations in several human FGFR genes have been identified as
playing a role in certain disorders of bone growth and development. One of these, Crouzon
syndrome, an autosomal dominant disorder causing craniosynostosis, has been associated
with mutations in the human FGFR-2 gene. We report here that microinjection of Xenopus
embryos with RNA encoding an FGFR-2 protein bearing a Cys 332® Tyr mutation (FGFR …