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Subject | Predicate | Object |
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http://purl.uniprot.org/citations/20308990 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/20308990 | http://www.w3.org/2000/01/rdf-schema#comment | "Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental syndrome characterized by hyperactivity, inattention and increased impulsivity. To detect micro-deletions and micro-duplications that may have a role in the pathogenesis of ADHD, we carried out a genome-wide screen for copy number variations (CNVs) in a cohort of 99 children and adolescents with severe ADHD. Using high-resolution array comparative genomic hybridization (aCGH), a total of 17 potentially syndrome-associated CNVs were identified. The aberrations comprise 4 deletions and 13 duplications with approximate sizes ranging from 110 kb to 3 Mb. Two CNVs occurred de novo and nine were inherited from a parent with ADHD, whereas five are transmitted by an unaffected parent. Candidates include genes expressing acetylcholine-metabolizing butyrylcholinesterase (BCHE), contained in a de novo chromosome 3q26.1 deletion, and a brain-specific pleckstrin homology domain-containing protein (PLEKHB1), with an established function in primary sensory neurons, in two siblings carrying a 11q13.4 duplication inherited from their affected mother. Other genes potentially influencing ADHD-related psychopathology and involved in aberrations inherited from affected parents are the genes for the mitochondrial NADH dehydrogenase 1 α subcomplex assembly factor 2 (NDUFAF2), the brain-specific phosphodiesterase 4D isoform 6 (PDE4D6) and the neuronal glucose transporter 3 (SLC2A3). The gene encoding neuropeptide Y (NPY) was included in a ∼3 Mb duplication on chromosome 7p15.2-15.3, and investigation of additional family members showed a nominally significant association of this 7p15 duplication with increased NPY plasma concentrations (empirical family-based association test, P=0.023). Lower activation of the left ventral striatum and left posterior insula during anticipation of large rewards or losses elicited by functional magnetic resonance imaging links gene dose-dependent increases in NPY to reward and emotion processing in duplication carriers. These findings implicate CNVs of behaviour-related genes in the pathogenesis of ADHD and are consistent with the notion that both frequent and rare variants influence the development of this common multifactorial syndrome."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.org/dc/terms/identifier | "doi:10.1038/mp.2010.29"xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Nguyen T.T."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Ullmann R."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Ropers H.H."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Schafer H."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Heine M."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Jacob C."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Reif A."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Hahn T."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Walitza S."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Fassnacht M."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Warnke A."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Allolio B."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Lesch K.P."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Shoichet S."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Selch S."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Romanos J."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Dempfle A."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Heinzel S."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Fallgatter A."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Renner T.J."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Wultsch T."xsd:string |
http://purl.uniprot.org/citations/20308990 | http://purl.uniprot.org/core/author | "Romanos M."xsd:string |