Article
A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.
Proceedings of the National Academy of Sciences of the United States of America - 24 Aug 2004
Eswarakumar Veraragavan P, Horowitz Mark C, Locklin Rachel, Morriss-Kay Gillian M, Lonai Peter
Abstract excerpt
The b and c variants of fibroblast growth factor receptor 2 (FGFR2) differ in sequence, binding specificity, and localization. Fgfr2b, expressed in epithelia, is required for limb outgrowth and branching morphogenesis, whereas the mesenchymal Fgfr2c variant is required by the osteocyte lineage for normal skeletogenesis. Gain-of-function mutations in human FGFR2c are associated with craniosynostosis syndromes. To...
Topics
- Animals
- Bone and Bones
- Cell Division
- Core Binding Factor Alpha 1 Subunit
- Cranial Sutures
- Craniofacial Dysostosis
- Humans
- Lung
- Mice
- Neoplasm Proteins
- Osteogenesis
- Phenotype
- Point Mutation