排序方式: 共有6条查询结果,搜索用时 15 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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A single Norway rat released on to a rat-free island was not caught for more than four months, despite intensive efforts to trap it. The rat first explored the 9.5-hectare island and then swam 400 metres across open water to another rat-free island, evading capture for 18 weeks until an aggressive combination of detection and trapping methods were deployed simultaneously. The exceptional difficulty of this capture indicates that methods normally used to eradicate rats in dense populations are unlikely to be effective on small numbers, a finding that could have global implications for conservation on protected islands. 相似文献
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Jirawatnotai S Hu Y Michowski W Elias JE Becks L Bienvenu F Zagozdzon A Goswami T Wang YE Clark AB Kunkel TA van Harn T Xia B Correll M Quackenbush J Livingston DM Gygi SP Sicinski P 《Nature》2011,474(7350):230-234
Cyclin D1 is a component of the core cell cycle machinery. Abnormally high levels of cyclin D1 are detected in many human cancer types. To elucidate the molecular functions of cyclin D1 in human cancers, we performed a proteomic screen for cyclin D1 protein partners in several types of human tumours. Analyses of cyclin D1 interactors revealed a network of DNA repair proteins, including RAD51, a recombinase that drives the homologous recombination process. We found that cyclin D1 directly binds RAD51, and that cyclin D1-RAD51 interaction is induced by radiation. Like RAD51, cyclin D1 is recruited to DNA damage sites in a BRCA2-dependent fashion. Reduction of cyclin D1 levels in human cancer cells impaired recruitment of RAD51 to damaged DNA, impeded the homologous recombination-mediated DNA repair, and increased sensitivity of cells to radiation in vitro and in vivo. This effect was seen in cancer cells lacking the retinoblastoma protein, which do not require D-cyclins for proliferation. These findings reveal an unexpected function of a core cell cycle protein in DNA repair and suggest that targeting cyclin D1 may be beneficial also in retinoblastoma-negative cancers which are currently thought to be unaffected by cyclin D1 inhibition. 相似文献
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O Rozenblatt-Rosen RC Deo M Padi G Adelmant MA Calderwood T Rolland M Grace A Dricot M Askenazi M Tavares SJ Pevzner F Abderazzaq D Byrdsong AR Carvunis AA Chen J Cheng M Correll M Duarte C Fan MC Feltkamp SB Ficarro R Franchi BK Garg N Gulbahce T Hao AM Holthaus R James A Korkhin L Litovchick JC Mar TR Pak S Rabello R Rubio Y Shen S Singh JM Spangle M Tasan S Wanamaker JT Webber J Roecklein-Canfield E Johannsen AL Barabási R Beroukhim E Kieff ME Cusick DE Hill K Münger JA Marto J Quackenbush 《Nature》2012,487(7408):491-495
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