排序方式: 共有37条查询结果,搜索用时 15 毫秒
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Dissecting DNA repair in adult high grade gliomas for patient stratification in the post-genomic era
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Alanna C Easton Walter Lucchesi Anbarasu Lourdusamy Bernd Lenz Jalal Solati Yulia Golub Piotr Lewczuk Cathy Fernandes Sylvane Desrivieres Ralph R Dawirs Gunther H Moll Johannes Kornhuber Josef Frank Per Hoffmann Michael Soyka Falk Kiefer The GESGA Consortium Gunter Schumann K Peter Giese Christian P Müller 《Neuropsychopharmacology》2013,38(13):2735
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Schumann G Coin LJ Lourdusamy A Charoen P Berger KH Stacey D Desrivières S Aliev FA Khan AA Amin N Aulchenko YS Bakalkin G Bakker SJ Balkau B Beulens JW Bilbao A de Boer RA Beury D Bots ML Breetvelt EJ Cauchi S Cavalcanti-Proença C Chambers JC Clarke TK Dahmen N de Geus EJ Dick D Ducci F Easton A Edenberg HJ Esko T Esk T Fernández-Medarde A Foroud T Freimer NB Girault JA Grobbee DE Guarrera S Gudbjartsson DF Hartikainen AL Heath AC Hesselbrock V Hofman A Hottenga JJ Isohanni MK Kaprio J Khaw KT 《Proceedings of the National Academy of Sciences of the United States of America》2011,108(17):7119-7124
Alcohol consumption is a moderately heritable trait, but the genetic basis in humans is largely unknown, despite its clinical and societal importance. We report a genome-wide association study meta-analysis of ~2.5 million directly genotyped or imputed SNPs with alcohol consumption (gram per day per kilogram body weight) among 12 population-based samples of European ancestry, comprising 26,316 individuals, with replication genotyping in an additional 21,185 individuals. SNP rs6943555 in autism susceptibility candidate 2 gene (AUTS2) was associated with alcohol consumption at genome-wide significance (P = 4 × 10(-8) to P = 4 × 10(-9)). We found a genotype-specific expression of AUTS2 in 96 human prefrontal cortex samples (P = 0.026) and significant (P < 0.017) differences in expression of AUTS2 in whole-brain extracts of mice selected for differences in voluntary alcohol consumption. Down-regulation of an AUTS2 homolog caused reduced alcohol sensitivity in Drosophila (P < 0.001). Our finding of a regulator of alcohol consumption adds knowledge to our understanding of genetic mechanisms influencing alcohol drinking behavior. 相似文献
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Effects of the circadian rhythm gene period 1 (per1) on psychosocial stress-induced alcohol drinking
Dong L Bilbao A Laucht M Henriksson R Yakovleva T Ridinger M Desrivieres S Clarke TK Lourdusamy A Smolka MN Cichon S Blomeyer D Treutlein J Perreau-Lenz S Witt S Leonardi-Essmann F Wodarz N Zill P Soyka M Albrecht U Rietschel M Lathrop M Bakalkin G Spanagel R Schumann G 《The American journal of psychiatry》2011,168(10):1090-1098
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Ependymomas are glial tumors that originate in either intracranial or spinal regions. Although tumors from different regions are histologically similar, they are biologically distinct. We therefore sought to identify molecular characteristics of spinal ependymomas (SEPN) in order to better understand the disease biology of these tumors. Using gene expression profiles of 256 tumor samples, we identified increased expression of 1,866 genes in SEPN when compared to intracranial ependymomas. These genes are mainly related to anterior/posterior pattern specification, response to oxidative stress, glial cell differentiation, DNA repair, and PPAR signalling, and also significantly enriched with cellular senescence genes (P = 5.5 × 10−03). In addition, a high number of significantly down-regulated genes in SEPN are localized to chromosome 22 (81 genes from chr22: 43,325,255 – 135,720,974; FDR = 1.77 × 10−23 and 22 genes from chr22: 324,739 – 32,822,302; FDR = 2.07 × 10−09) including BRD1, EP300, HDAC10, HIRA, HIC2, MKL1, and NF2. Evaluation of NF2 co-expressed genes further confirms the enrichment of chromosome 22 regions. Finally, systematic integration of chromosome 22 genes with interactome and NF2 co-expression data identifies key candidate genes. Our results reveal unique molecular characteristics of SEPN such as altered expression of cellular senescence and chromosome 22 genes. 相似文献
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Paus T Bernard M Chakravarty MM Davey Smith G Gillis J Lourdusamy A Melka MG Leonard G Pavlidis P Perron M Pike GB Richer L Schumann G Timpson N Toro R Veillette S Pausova Z 《Cerebral cortex (New York, N.Y. : 1991)》2012,22(11):2634-2642
The most dramatic growth of the human brain occurs in utero and during the first 2 years of postnatal life. Genesis of the cerebral cortex involves cell proliferation, migration, and apoptosis, all of which may be influenced by prenatal environment. Here, we show that variation in KCTD8 (potassium channel tetramerization domain 8) is associated with brain size in female adolescents (rs716890, P = 5.40 × 10(-09)). Furthermore, we found that the KCTD8 locus interacts with prenatal exposure to maternal cigarette smoking vis-à-vis cortical area and cortical folding: In exposed girls only, the KCTD8 locus explains up to 21% of variance. Using head circumference as a proxy of brain size at 7 years of age, we have replicated this gene-environment interaction in an independent sample. We speculate that KCTD8 might modulate adverse effects of smoking during pregnancy on brain development via apoptosis triggered by low intracellular levels of potassium, possibly reducing the number of progenitor cells. 相似文献