排序方式: 共有5条查询结果,搜索用时 60 毫秒
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Elia J Glessner JT Wang K Takahashi N Shtir CJ Hadley D Sleiman PM Zhang H Kim CE Robison R Lyon GJ Flory JH Bradfield JP Imielinski M Hou C Frackelton EC Chiavacci RM Sakurai T Rabin C Middleton FA Thomas KA Garris M Mentch F Freitag CM Steinhausen HC Todorov AA Reif A Rothenberger A Franke B Mick EO Roeyers H Buitelaar J Lesch KP Banaschewski T Ebstein RP Mulas F Oades RD Sergeant J Sonuga-Barke E Renner TJ Romanos M Romanos J Warnke A Walitza S Meyer J Pálmason H Seitz C Loo SK Smalley SL 《Nature genetics》2012,44(1):78-84
Attention deficit hyperactivity disorder (ADHD) is a common, heritable neuropsychiatric disorder of unknown etiology. We performed a whole-genome copy number variation (CNV) study on 1,013 cases with ADHD and 4,105 healthy children of European ancestry using 550,000 SNPs. We evaluated statistically significant findings in multiple independent cohorts, with a total of 2,493 cases with ADHD and 9,222 controls of European ancestry, using matched platforms. CNVs affecting metabotropic glutamate receptor genes were enriched across all cohorts (P = 2.1 × 10(-9)). We saw GRM5 (encoding glutamate receptor, metabotropic 5) deletions in ten cases and one control (P = 1.36 × 10(-6)). We saw GRM7 deletions in six cases, and we saw GRM8 deletions in eight cases and no controls. GRM1 was duplicated in eight cases. We experimentally validated the observed variants using quantitative RT-PCR. A gene network analysis showed that genes interacting with the genes in the GRM family are enriched for CNVs in ~10% of the cases (P = 4.38 × 10(-10)) after correction for occurrence in the controls. We identified rare recurrent CNVs affecting glutamatergic neurotransmission genes that were overrepresented in multiple ADHD cohorts. 相似文献
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Gonatus onyx is one of the most abundant cephalopods in the Pacific and Atlantic Oceans and is an important prey species for a variety of vertebrate predators, but a full understanding of its life history has been hampered because spawning occurs at great depths, where observation is difficult. Here we describe post-spawning egg care, or brooding, in this deep-sea squid. Our finding is unexpected because this behaviour differs from the reproductive habits of all other known squid species. 相似文献
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Michael M. Robison Robert A. Lucas H. B. MacPhillamy W. Barrett A. J. Plummer 《Cellular and molecular life sciences : CMLS》1961,17(1):14-15
Zusammenfassung Durch Umsetzung des Methyl-Reserpates (Ic) mit Diazomethan in Gegenwart von Fluoborsäure wird 18-O-Methylreserpsäure-methylester (Id) gewonnen. Reaktion des 18-O-p-Brombenzolsulfonylreserpsäure-methylesters (Ie) mit Methanol und Triäthylamin führt dagegen zum isomeren 18-epi-Methyläther (IIa). Diese Produkte, und besonders ihre wasserlöslichen Hydrochloride, besitzen ausgeprägte sedative Eigenschaften mit schnellem Wirkungseintritt; sie sind aber nicht hypotensiv wirksam. 相似文献
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M. M. Robison A. A. Renzi W. E. Barrett 《Cellular and molecular life sciences : CMLS》1967,23(7):513-514
Zusammenfassung Die Synthese von 1-(Pyrrolidino)-3,5-diphenyl-4-(-pyridyl)-cyclohexan, Su-15049, und dessen wasserlöslichen Citrats werden beschrieben. Diese Verbindungen besitzen starke diuretische und natriuretische Eigenschaften; sie sind aber nicht kaliuretisch wirksam. 相似文献
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