title: FGF and ROR2 receptor tyrosine kinase signaling in human skeletal development.
abstract: Skeletal malformations are among the most frequent developmental disturbances in humans. In the past years, progress has been made in unraveling the molecular mechanisms that govern skeletal development by the use of animal models as well as by the identification of numerous mutations that cause human skeletal syndromes. Receptor tyrosine kinases have critical roles in embryonic development. During formation of the skeletal system, the fibroblast growth factor receptor (FGFR) family plays major roles in the formation of cranial, axial, and appendicular bones. Another player of relevance to skeletal development is the unusual receptor tyrosine kinase ROR2, the function of which is as interesting as it is complex. In this chapter, we review the involvement of FGFR signaling in human skeletal disease and provide an update on the growing knowledge of ROR2.
authors.affiliation: Development and Disease Group, Max Planck-Institute for Molecular Genetics, Berlin, Germany.
authors.forename: Sigmar
authors.initials: S
authors.lastname: Stricker
authors.forename: Stefan
authors.initials: S
authors.lastname: Mundlos
mesh_terms: D000818:Animals; D001846:Bone Development / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics / Q000503:physiopathology; D019485:Bone Morphogenetic Proteins / Q000235:genetics / Q000378:metabolism; D005346:Fibroblast Growth Factors / Q000235:genetics / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D053823:Hedgehog Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D051379:Mice; D023421:Models, Animal; D009154:Mutation; D057050:Receptor Tyrosine Kinase-like Orphan Receptors / Q000235:genetics / Q000378:metabolism; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction / Q000502:physiology; D053773:Transforming Growth Factor beta1 / Q000235:genetics / Q000378:metabolism; D060449:Wnt Signaling Pathway / Q000235:genetics*
chemical_list: D019485:Bone Morphogenetic Proteins; D053823:Hedgehog Proteins; D017468:Receptors, Fibroblast Growth Factor; D053773:Transforming Growth Factor beta1; D005346:Fibroblast Growth Factors; D057050:Receptor Tyrosine Kinase-like Orphan Receptors