| http://purl.uniprot.org/citations/16293761 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16293761 | http://www.w3.org/2000/01/rdf-schema#comment | "Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial development is incomplete. We show that GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development, and we implicate another member of the TFII-I transcription factor family, GTF2I, in both aspects. Gtf2ird1-null mice exhibit phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); craniofacial imaging reveals abnormalities in both skull and jaws that may arise through misregulation of goosecoid, a downstream target of Gtf2ird1. In humans, a rare WBS individual with an atypical deletion, including GTF2IRD1, shows facial dysmorphism and cognitive deficits that differ from those of classic WBS cases. We propose a mechanism of cumulative dosage effects of duplicated and diverged genes applicable to other human chromosomal disorders."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.org/dc/terms/identifier | "doi:10.1126/science.1116142"xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Stewart H."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Thompson P."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Popescu N.C."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Donnai D."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Hammond P."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Metcalfe K."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Hutton T."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Read A.P."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Thorgeirsson S.S."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Tassabehji M."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Durkin M.E."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Maconochie M."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Karmiloff-Smith A."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/author | "Rucka A."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/name | "Science"xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/pages | "1184-1187"xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/title | "GTF2IRD1 in craniofacial development of humans and mice."xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://purl.uniprot.org/core/volume | "310"xsd:string |
| http://purl.uniprot.org/citations/16293761 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16293761 |
| http://purl.uniprot.org/citations/16293761 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/16293761 |
| http://purl.uniprot.org/uniprot/#_A0A0J9YTX7-mappedCitation-16293761 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16293761 |