http://purl.uniprot.org/citations/24507884 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/24507884 | http://www.w3.org/2000/01/rdf-schema#comment | "Schizophrenia has a strong genetic basis, and genome-wide association studies (GWAS) have shown that effect sizes for individual genetic variants which increase disease risk are small, making detection and validation of true disease-associated risk variants extremely challenging. Specifically, we first identify genes with exons showing differential expression between cases and controls, indicating a splicing mechanism that may contribute to variation in disease risk and focus on those showing consistent differential expression between blood and brain tissue. We then perform a genome-wide screen for SNPs associated with both normalised exon intensity of these genes (so called splicing QTLs) as well as association with schizophrenia. We identified a number of significantly associated loci with a biologically plausible role in schizophrenia, including MCPH1, DLG3, ZC3H13, and BICD2, and additional loci that influence splicing of these genes, including YWHAH. Our approach of integrating genome-wide exon intensity with genome-wide polymorphism data has identified a number of plausible SZ associated loci."xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jpsychires.2014.01.011"xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/author | "Wu J."xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/author | "Scott R.J."xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/author | "Evans T.J."xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/author | "Attia J.R."xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/author | "Holliday E.G."xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/author | "Oldmeadow C."xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/author | "Carr V."xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/author | "Tooney P.A."xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/author | "Mossman D."xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/author | "Cairns M.J."xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/name | "J Psychiatr Res"xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/pages | "44-49"xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/title | "Combined analysis of exon splicing and genome wide polymorphism data predict schizophrenia risk loci."xsd:string |
http://purl.uniprot.org/citations/24507884 | http://purl.uniprot.org/core/volume | "52"xsd:string |
http://purl.uniprot.org/citations/24507884 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24507884 |
http://purl.uniprot.org/citations/24507884 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24507884 |
http://purl.uniprot.org/uniprot/#_A0A172QZW0-mappedCitation-24507884 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24507884 |
http://purl.uniprot.org/uniprot/#_A0A7I2V4I5-mappedCitation-24507884 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24507884 |
http://purl.uniprot.org/uniprot/#_A0PJJ2-mappedCitation-24507884 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24507884 |
http://purl.uniprot.org/uniprot/#_A0A1B2M4G2-mappedCitation-24507884 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24507884 |
http://purl.uniprot.org/uniprot/#_B3KMG8-mappedCitation-24507884 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24507884 |