| http://purl.uniprot.org/citations/17989066 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17989066 | http://www.w3.org/2000/01/rdf-schema#comment | "Copy number variations (CNVs) account for a substantial proportion of human genomic variation, and have been shown to cause neurodevelopmental disorders. We sought to determine the relevance of CNVs to the aetiology of schizophrenia (SZ). Whole-genome, high-resolution, tiling path BAC array comparative genomic hybridization (array CGH) was employed to test DNA from 93 individuals with DSM-IV SZ. Common DNA copy number changes that are unlikely to be directly pathogenic in SZ were filtered out by comparison to a reference dataset of 372 control individuals analyzed in our laboratory, and a screen against the Database of Genomic Variants. The remaining aberrations were validated with Affymetrix 250K SNP arrays or 244K Agilent oligo-arrays and tested for inheritance from the parents. A total of 13 aberrations satisfied our criteria. Two of them are very likely to be pathogenic. The first one is a deletion at 2p16.3 that was present in an affected sibling and disrupts NRXN1. The second one is a de novo duplication at 15q13.1 spanning APBA2. The proteins of these two genes interact directly and play a role in synaptic development and function. Both genes have been affected by CNVs in patients with autism and mental retardation, but neither has been previously implicated in SZ."xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddm323"xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/author | "Chen W."xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/author | "Ullmann R."xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/author | "Ropers H.H."xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/author | "Owen M.J."xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/author | "O'Donovan M.C."xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/author | "Norton N."xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/author | "Erdogan F."xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/author | "Georgieva L."xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/author | "Kirov G."xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/author | "Sari M."xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/author | "Gumus D."xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/pages | "458-465"xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/title | "Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia."xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://purl.uniprot.org/core/volume | "17"xsd:string |
| http://purl.uniprot.org/citations/17989066 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/17989066 |
| http://purl.uniprot.org/citations/17989066 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/17989066 |
| http://purl.uniprot.org/uniprot/#_A0A0D9SEM5-mappedCitation-17989066 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17989066 |
| http://purl.uniprot.org/uniprot/#_A0A0D9SEQ7-mappedCitation-17989066 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17989066 |
| http://purl.uniprot.org/uniprot/#_A0A1D5RMU6-mappedCitation-17989066 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17989066 |
| http://purl.uniprot.org/uniprot/#_B4DIT5-mappedCitation-17989066 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17989066 |