| http://purl.uniprot.org/citations/16990542 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16990542 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16990542 | http://www.w3.org/2000/01/rdf-schema#comment | "The posttranslational modification sumoylation can have multiple effects on its substrate proteins. We studied a patient with isolated cleft lip and palate and a balanced chromosomal translocation that disrupts the SUMO1 (small ubiquitin-related modifier) gene, resulting in haploinsufficiency. In mouse, we found that Sumo1 is expressed in the developing lip and palate and that a Sumo1 hypomorphic allele manifests an incompletely penetrant orofacial clefting phenotype. Products of several genes implicated in clefting are sumoylated, and the Sumo1 hypomorphic allele interacts genetically with a loss-of-function allele for one of these loci. Thus, sumoylation defines a network of genes important for palatogenesis."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.org/dc/terms/identifier | "doi:10.1126/science.1128406"xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.org/dc/terms/identifier | "doi:10.1126/science.1128406"xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/author | "Morton C.C."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/author | "Morton C.C."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/author | "Alkuraya F.S."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/author | "Alkuraya F.S."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/author | "Maas R.L."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/author | "Maas R.L."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/author | "Saadi I."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/author | "Saadi I."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/author | "Turbe-Doan A."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/author | "Turbe-Doan A."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/author | "Lund J.J."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/author | "Lund J.J."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/name | "Science"xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/name | "Science"xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/pages | "1751"xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/pages | "1751"xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/title | "SUMO1 haploinsufficiency leads to cleft lip and palate."xsd:string |
| http://purl.uniprot.org/citations/16990542 | http://purl.uniprot.org/core/title | "SUMO1 haploinsufficiency leads to cleft lip and palate."xsd:string |