| http://purl.uniprot.org/citations/15703190 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15703190 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15703190 | http://www.w3.org/2000/01/rdf-schema#comment | "DiGeorge syndrome (DGS) is the most common human chromosomal deletion syndrome and is frequently associated with deletions on chromosome 22q11. Approximately 17% of patients with the phenotypic features of this syndrome have no detectable genomic deletion. Animal studies using mouse models have implicated Tbx1 as a critical gene within the commonly deleted region, and several mutations in TBX1 have been identified recently in non-deleted patients, including missense and frameshift mutations. The mechanisms by which these mutations cause disease have remained unclear. We have identified a previously unrecognized and novel nuclear localization signal (NLS) at the C-terminus of Tbx1 that is deleted by the 1223delC mutation, thus explaining the mechanism of disease in these patients. This NLS is conserved across species, among a subfamily of T-box proteins including Brachyury and Tbx10, and among additional nuclear proteins. By providing functional data to indicate loss-of-function produced by the 1223delC TBX1 mutation, our results provide strong support for the conclusion that TBX1 mutations can cause DGS in humans."xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddi081"xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddi081"xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/author | "Epstein J.A."xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/author | "Epstein J.A."xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/author | "Stoller J.Z."xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/author | "Stoller J.Z."xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/pages | "885-892"xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/pages | "885-892"xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/title | "Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation."xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/title | "Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation."xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/volume | "14"xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://purl.uniprot.org/core/volume | "14"xsd:string |
| http://purl.uniprot.org/citations/15703190 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/15703190 |
| http://purl.uniprot.org/citations/15703190 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/15703190 |
| http://purl.uniprot.org/citations/15703190 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/15703190 |
| http://purl.uniprot.org/citations/15703190 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/15703190 |
| http://purl.uniprot.org/uniprot/P70323 | http://purl.uniprot.org/core/citation | http://purl.uniprot.org/citations/15703190 |
| http://purl.uniprot.org/uniprot/P70323#attribution-1262E81A3E66314D5B309718CBE08BCC | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/15703190 |