title: Genetic defects in the development of the skull vault in humans and mice.
abstract: Using a genetic approach, an increasing number of genes has been shown to be important for proper skull vault development. In this review, we discuss the genes involved in disorders of the dermal skull vault in humans, including craniosynostosis and skull ossification defects, and supplement this with data from transgenic and knockout mouse models. These studies have shown the importance of signaling mediated by fibroblast growth factors (FGFs), bone morphogenic proteins (BMPs), and transforming growth factor (TGF)-beta. In addition, some insights into the disease mechanisms leading to skull vault disorders are beginning to be discovered.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: Pieter
authors.initials: P
authors.lastname: Verdyck
authors.forename: Wim
authors.initials: W
authors.lastname: Wuyts
authors.forename: Wim
authors.initials: W
authors.lastname: Van Hul
mesh_terms: D000818:Animals; D019485:Bone Morphogenetic Proteins / Q000235:genetics / Q000378:metabolism; D003398:Craniosynostoses / Q000235:genetics; D005346:Fibroblast Growth Factors / Q000235:genetics / Q000378:metabolism; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008822:Mice, Transgenic; D009154:Mutation; D009999:Ossification, Heterotopic; D010012:Osteogenesis; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D015398:Signal Transduction; D012886:Skull / Q000002:abnormalities* / Q000254:growth & development* / Q000378:metabolism; D016212:Transforming Growth Factor beta / Q000235:genetics / Q000378:metabolism
chemical_list: D019485:Bone Morphogenetic Proteins; D017468:Receptors, Fibroblast Growth Factor; D016212:Transforming Growth Factor beta; D005346:Fibroblast Growth Factors