| http://purl.uniprot.org/citations/20727876 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20727876 | http://www.w3.org/2000/01/rdf-schema#comment | "The Notch pathway is crucial for a wide variety of developmental processes including the formation of tissue boundaries. That it may function in calvarial suture development and figure in the pathophysiology of craniosynostosis was suggested by the demonstration that heterozygous loss of function of JAGGED1 in humans can cause Alagille syndrome, which has craniosynostosis as a feature. We used conditional gene targeting to examine the role of Jagged1 in the development of the skull vault. We demonstrate that Jagged1 is expressed in a layer of mesoderm-derived sutural cells that lie along the osteogenic-non-osteogenic boundary. We show that inactivation of Jagged1 in the mesodermal compartment of the coronal suture, but not in the neural crest compartment, results in craniosynostosis. Mesodermal inactivation of Jagged1 also results in changes in the identity of sutural cells prior to overt osteogenic differentiation, as well as defects in the boundary between osteogenic and non-osteogenic compartments at the coronal suture. These changes, surprisingly, are associated with increased expression of Notch2 and the Notch effector, Hes1, in the sutural mesenchyme. They are also associated with an increase in nuclear β-catenin. In Twist1 mutants, Jagged1 expression in the suture is reduced substantially, suggesting an epistatic relationship between Twist1 and Jagged1. Consistent with such a relationship, Twist1-Jagged1 double heterozygotes exhibit a substantial increase in the severity of craniosynostosis over individual heterozygotes. Our results thus suggest that Jagged1 is an effector of Twist1 in coronal suture development."xsd:string |
| http://purl.uniprot.org/citations/20727876 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ydbio.2010.08.010"xsd:string |
| http://purl.uniprot.org/citations/20727876 | http://purl.uniprot.org/core/author | "Maxson R.E."xsd:string |
| http://purl.uniprot.org/citations/20727876 | http://purl.uniprot.org/core/author | "Ting M.C."xsd:string |
| http://purl.uniprot.org/citations/20727876 | http://purl.uniprot.org/core/author | "Yen H.Y."xsd:string |
| http://purl.uniprot.org/citations/20727876 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20727876 | http://purl.uniprot.org/core/name | "Dev Biol"xsd:string |
| http://purl.uniprot.org/citations/20727876 | http://purl.uniprot.org/core/pages | "258-270"xsd:string |
| http://purl.uniprot.org/citations/20727876 | http://purl.uniprot.org/core/title | "Jagged1 functions downstream of Twist1 in the specification of the coronal suture and the formation of a boundary between osteogenic and non-osteogenic cells."xsd:string |
| http://purl.uniprot.org/citations/20727876 | http://purl.uniprot.org/core/volume | "347"xsd:string |
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