| http://purl.uniprot.org/citations/16540516 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16540516 | http://www.w3.org/2000/01/rdf-schema#comment | "Boundaries between cellular compartments often serve as signaling interfaces during embryogenesis. The coronal suture is a major growth center of the skull vault and develops at a boundary between cells derived from neural crest and mesodermal origin, forming the frontal and parietal bones, respectively. Premature fusion of these bones, termed coronal synostosis, is a common human developmental anomaly. Known causes of coronal synostosis include haploinsufficiency of TWIST1 and a gain of function mutation in MSX2. In Twist1(+/-) mice with coronal synostosis, we found that the frontal-parietal boundary is defective. Specifically, neural crest cells invade the undifferentiated mesoderm of the Twist1(+/-) mutant coronal suture. This boundary defect is accompanied by an expansion in Msx2 expression and reduction in ephrin-A4 distribution. Reduced dosage of Msx2 in the Twist1 mutant background restores the expression of ephrin-A4, rescues the suture boundary and inhibits craniosynostosis. Underlining the importance of ephrin-A4, we identified heterozygous mutations in the human orthologue, EFNA4, in three of 81 patients with non-syndromic coronal synostosis. This provides genetic evidence that Twist1, Msx2 and Efna4 function together in boundary formation and the pathogenesis of coronal synostosis."xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddl052"xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/author | "Ishii M."xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/author | "Pilz D.T."xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/author | "Lyons K.M."xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/author | "Wall S.A."xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/author | "Wilkie A.O."xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/author | "Merrill A.E."xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/author | "Bochukova E.G."xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/author | "Maxson R.E. Jr."xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/author | "Brugger S.M."xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/pages | "1319-1328"xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/title | "Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis."xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://purl.uniprot.org/core/volume | "15"xsd:string |
| http://purl.uniprot.org/citations/16540516 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16540516 |
| http://purl.uniprot.org/citations/16540516 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/16540516 |
| http://purl.uniprot.org/uniprot/#_A0A087WQW6-mappedCitation-16540516 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16540516 |
| http://purl.uniprot.org/uniprot/#_A0A087WQZ6-mappedCitation-16540516 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16540516 |
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| http://purl.uniprot.org/uniprot/#_P52798-mappedCitation-16540516 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16540516 |
| http://purl.uniprot.org/uniprot/#_P52801-mappedCitation-16540516 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16540516 |
| http://purl.uniprot.org/uniprot/#_Q15672-mappedCitation-16540516 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16540516 |