排序方式: 共有76条查询结果,搜索用时 31 毫秒
61.
Yasuda K Miyake K Horikawa Y Hara K Osawa H Furuta H Hirota Y Mori H Jonsson A Sato Y Yamagata K Hinokio Y Wang HY Tanahashi T Nakamura N Oka Y Iwasaki N Iwamoto Y Yamada Y Seino Y Maegawa H Kashiwagi A Takeda J Maeda E Shin HD Cho YM Park KS Lee HK Ng MC Ma RC So WY Chan JC Lyssenko V Tuomi T Nilsson P Groop L Kamatani N Sekine A Nakamura Y Yamamoto K Yoshida T Tokunaga K Itakura M Makino H Nanjo K Kadowaki T Kasuga M 《Nature genetics》2008,40(9):1092-1097
We carried out a multistage genome-wide association study of type 2 diabetes mellitus in Japanese individuals, with a total of 1,612 cases and 1,424 controls and 100,000 SNPs. The most significant association was obtained with SNPs in KCNQ1, and dense mapping within the gene revealed that rs2237892 in intron 15 showed the lowest Pvalue (6.7 x 10(-13), odds ratio (OR) = 1.49). The association of KCNQ1 with type 2 diabetes was replicated in populations of Korean, Chinese and European ancestry as well as in two independent Japanese populations, and meta-analysis with a total of 19,930 individuals (9,569 cases and 10,361 controls) yielded a P value of 1.7 x 10(-42) (OR = 1.40; 95% CI = 1.34-1.47) for rs2237892. Among control subjects, the risk allele of this polymorphism was associated with impairment of insulin secretion according to the homeostasis model assessment of beta-cell function or the corrected insulin response. Our data thus implicate KCNQ1 as a diabetes susceptibility gene in groups of different ancestries. 相似文献
62.
ZnFe2O4与CaCl2氯化反应机理 总被引:1,自引:0,他引:1
利用CaCl2为氯源与含锌冶金粉尘的重要组分ZnFe2O4进行反应,并利用扫描电镜(SEM)和能量色散谱仪(EDS)分析了ZnFe2O4粉体与CaCl2反应面和反应产物微观形貌的变化,讨论了ZnFe2O4与CaCl2的反应机理.认为反应过程包括一个固液反应和气体挥发过程.ZnFe2O4颗粒被熔融CaCl2包裹,在固液界面发生氯化反应,生成的ZnCl2溶解在CaCl2液膜中,并在气液界面挥发逸出,而CaFe2O4的产物层不断增大,同时伴随着多个颗粒间的黏结和融合长大. 相似文献
63.
64.
Khaja R Zhang J MacDonald JR He Y Joseph-George AM Wei J Rafiq MA Qian C Shago M Pantano L Aburatani H Jones K Redon R Hurles M Armengol L Estivill X Mural RJ Lee C Scherer SW Feuk L 《Nature genetics》2006,38(12):1413-1418
Numerous types of DNA variation exist, ranging from SNPs to larger structural alterations such as copy number variants (CNVs) and inversions. Alignment of DNA sequence from different sources has been used to identify SNPs and intermediate-sized variants (ISVs). However, only a small proportion of total heterogeneity is characterized, and little is known of the characteristics of most smaller-sized (<50 kb) variants. Here we show that genome assembly comparison is a robust approach for identification of all classes of genetic variation. Through comparison of two human assemblies (Celera's R27c compilation and the Build 35 reference sequence), we identified megabases of sequence (in the form of 13,534 putative non-SNP events) that were absent, inverted or polymorphic in one assembly. Database comparison and laboratory experimentation further demonstrated overlap or validation for 240 variable regions and confirmed >1.5 million SNPs. Some differences were simple insertions and deletions, but in regions containing CNVs, segmental duplication and repetitive DNA, they were more complex. Our results uncover substantial undescribed variation in humans, highlighting the need for comprehensive annotation strategies to fully interpret genome scanning and personalized sequencing projects. 相似文献
65.
A truncating mutation of HDAC2 in human cancers confers resistance to histone deacetylase inhibition 总被引:1,自引:0,他引:1
Ropero S Fraga MF Ballestar E Hamelin R Yamamoto H Boix-Chornet M Caballero R Alaminos M Setien F Paz MF Herranz M Palacios J Arango D Orntoft TF Aaltonen LA Schwartz S Esteller M 《Nature genetics》2006,38(5):566-569
Disruption of histone acetylation patterns is a common feature of cancer cells, but very little is known about its genetic basis. We have identified truncating mutations in one of the primary human histone deacetylases, HDAC2, in sporadic carcinomas with microsatellite instability and in tumors arising in individuals with hereditary nonpolyposis colorectal cancer syndrome. The presence of the HDAC2 frameshift mutation causes a loss of HDAC2 protein expression and enzymatic activity and renders these cells more resistant to the usual antiproliferative and proapoptotic effects of histone deacetylase inhibitors. As such drugs may serve as therapeutic agents for cancer, our findings support the use of HDAC2 mutational status in future pharmacogenetic treatment of these individuals. 相似文献
66.
Hiroyuki Ariyama 《Journal of Natural History》2016,50(35-36):2277-2297
Two new species of eyeless amphipods are described from coastal Japan. Dulzura projecta sp. nov. (Hadziidae) was collected under large stones and in coarse sand from Osaka to Mie Prefectures. Dulzura projecta can be distinguished from the other Dulzura species by the distinct projection on article 1 of the male pleopod 3 inner ramus and the very long carpus of male gnathopod 1. Paraniphargus shiosai sp. nov. (Melitidae) was collected in coarse sand from Mie Prefecture, and can be differentiated from the other two species in the genus by the dorsal teeth on the pleonites, the smaller coxa 4 with shallow excavation and the shorter antenna 1 flagellum. Paraniphargus is reinstated as a distinct genus, following observation of the gnathopods, which revealed sexual monomorphism between males and females. 相似文献
67.
Inkjet printing of single-crystal films 总被引:1,自引:0,他引:1
Minemawari H Yamada T Matsui H Tsutsumi J Haas S Chiba R Kumai R Hasegawa T 《Nature》2011,475(7356):364-367
The use of single crystals has been fundamental to the development of semiconductor microelectronics and solid-state science. Whether based on inorganic or organic materials, the devices that show the highest performance rely on single-crystal interfaces, with their nearly perfect translational symmetry and exceptionally high chemical purity. Attention has recently been focused on developing simple ways of producing electronic devices by means of printing technologies. 'Printed electronics' is being explored for the manufacture of large-area and flexible electronic devices by the patterned application of functional inks containing soluble or dispersed semiconducting materials. However, because of the strong self-organizing tendency of the deposited materials, the production of semiconducting thin films of high crystallinity (indispensable for realizing high carrier mobility) may be incompatible with conventional printing processes. Here we develop a method that combines the technique of antisolvent crystallization with inkjet printing to produce organic semiconducting thin films of high crystallinity. Specifically, we show that mixing fine droplets of an antisolvent and a solution of an active semiconducting component within a confined area on an amorphous substrate can trigger the controlled formation of exceptionally uniform single-crystal or polycrystalline thin films that grow at the liquid-air interfaces. Using this approach, we have printed single crystals of the organic semiconductor 2,7-dioctyl[1]benzothieno[3,2-b][1]benzothiophene (C(8)-BTBT) (ref. 15), yielding thin-film transistors with average carrier mobilities as high as 16.4?cm(2)?V(-1)?s(-1). This printing technique constitutes a major step towards the use of high-performance single-crystal semiconductor devices for large-area and flexible electronics applications. 相似文献
68.
Taoka K Ohki I Tsuji H Furuita K Hayashi K Yanase T Yamaguchi M Nakashima C Purwestri YA Tamaki S Ogaki Y Shimada C Nakagawa A Kojima C Shimamoto K 《Nature》2011,476(7360):332-335
69.
70.
Cadwell K Liu JY Brown SL Miyoshi H Loh J Lennerz JK Kishi C Kc W Carrero JA Hunt S Stone CD Brunt EM Xavier RJ Sleckman BP Li E Mizushima N Stappenbeck TS Virgin HW 《Nature》2008,456(7219):259-263