| http://purl.uniprot.org/citations/24549057 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24549057 | http://www.w3.org/2000/01/rdf-schema#comment | "Tourette syndrome is a neurodevelopmental disorder characterized by multiple motor and vocal tics, and the disorder is often accompanied by comorbidities such as attention-deficit hyperactivity-disorder and obsessive compulsive disorder. Tourette syndrome has a complex etiology, but the underlying environmental and genetic factors are largely unknown. IMMP2L (inner mitochondrial membrane peptidase, subunit 2) located on chromosome 7q31 is one of the genes suggested as a susceptibility factor in disease pathogenesis. Through screening of a Danish cohort comprising 188 unrelated Tourette syndrome patients for copy number variations, we identified seven patients with intragenic IMMP2L deletions (3.7%), and this frequency was significantly higher (P=0.0447) compared with a Danish control cohort (0.9%). Four of the seven deletions identified did not include any known exons of IMMP2L, but were within intron 3. These deletions were found to affect a shorter IMMP2L mRNA species with two alternative 5'-exons (one including the ATG start codon). We showed that both transcripts (long and short) were expressed in several brain regions, with a particularly high expression in cerebellum and hippocampus. The current findings give further evidence for the role of IMMP2L as a susceptibility factor in Tourette syndrome and suggest that intronic changes in disease susceptibility genes should be investigated further for presence of alternatively spliced exons."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2014.24"xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/author | "Jensen L.R."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/author | "Tumer Z."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/author | "Brondum-Nielsen K."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/author | "Silahtaroglu A."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/author | "Rizzo R."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/author | "Groth C."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/author | "Melchior L."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/author | "Skov L."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/author | "Paschou P."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/author | "Glenthoj B."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/author | "Bertelsen B."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/author | "Debes N.M."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/name | "Eur J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/pages | "1283-1289"xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/title | "Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome."xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://purl.uniprot.org/core/volume | "22"xsd:string |
| http://purl.uniprot.org/citations/24549057 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24549057 |
| http://purl.uniprot.org/citations/24549057 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24549057 |
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| http://purl.uniprot.org/uniprot/#_A4D0S9-mappedCitation-24549057 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24549057 |
| http://purl.uniprot.org/uniprot/#_Q96T52-mappedCitation-24549057 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24549057 |