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排序方式: 共有86条查询结果,搜索用时 15 毫秒
51.
Greenman C Stephens P Smith R Dalgliesh GL Hunter C Bignell G Davies H Teague J Butler A Stevens C Edkins S O'Meara S Vastrik I Schmidt EE Avis T Barthorpe S Bhamra G Buck G Choudhury B Clements J Cole J Dicks E Forbes S Gray K Halliday K Harrison R Hills K Hinton J Jenkinson A Jones D Menzies A Mironenko T Perry J Raine K Richardson D Shepherd R Small A Tofts C Varian J Webb T West S Widaa S Yates A Cahill DP Louis DN Goldstraw P Nicholson AG Brasseur F Looijenga L Weber BL Chiew YE DeFazio A 《Nature》2007,446(7132):153-158
Cancers arise owing to mutations in a subset of genes that confer growth advantage. The availability of the human genome sequence led us to propose that systematic resequencing of cancer genomes for mutations would lead to the discovery of many additional cancer genes. Here we report more than 1,000 somatic mutations found in 274 megabases (Mb) of DNA corresponding to the coding exons of 518 protein kinase genes in 210 diverse human cancers. There was substantial variation in the number and pattern of mutations in individual cancers reflecting different exposures, DNA repair defects and cellular origins. Most somatic mutations are likely to be 'passengers' that do not contribute to oncogenesis. However, there was evidence for 'driver' mutations contributing to the development of the cancers studied in approximately 120 genes. Systematic sequencing of cancer genomes therefore reveals the evolutionary diversity of cancers and implicates a larger repertoire of cancer genes than previously anticipated. 相似文献
52.
Simpson MA Irving MD Asilmaz E Gray MJ Dafou D Elmslie FV Mansour S Holder SE Brain CE Burton BK Kim KH Pauli RM Aftimos S Stewart H Kim CA Holder-Espinasse M Robertson SP Drake WM Trembath RC 《Nature genetics》2011,43(4):303-305
We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss. The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling. 相似文献
53.
Jaeger E Webb E Howarth K Carvajal-Carmona L Rowan A Broderick P Walther A Spain S Pittman A Kemp Z Sullivan K Heinimann K Lubbe S Domingo E Barclay E Martin L Gorman M Chandler I Vijayakrishnan J Wood W Papaemmanuil E Penegar S Qureshi M;CORGI Consortium Farrington S Tenesa A Cazier JB Kerr D Gray R Peto J Dunlop M Campbell H Thomas H Houlston R Tomlinson I 《Nature genetics》2008,40(1):26-28
We mapped a high-penetrance gene (CRAC1; also known as HMPS) associated with colorectal cancer (CRC) in the Ashkenazi population to a 0.6-Mb region on chromosome 15 containing SCG5 (also known as SGNE1), GREM1 and FMN1. We hypothesized that the CRAC1 locus harbored low-penetrance variants that increased CRC risk in the general population. In a large series of colorectal cancer cases and controls, SNPs near GREM1 and SCG5 were strongly associated with increased CRC risk (for rs4779584, P = 4.44 x 10(-14)). 相似文献
54.
重油和沥青中饱和碳的定量估计 总被引:2,自引:2,他引:2
建立了较完整的估计重油和沥青中饱和碳浓度数方法,其中包括环烷桥头碳、环烷甲基取代碳、环烷烷基(≥C2)取代碳等。基于理论分析,建立了估计环间的桥链和各种平均结构参数的方法,包括平均芳环环核数和环烷环环核数、芳环和环烷环烷工取代度、单元片上芳环和环烷环数。从实验数据出发,提出了烷基链长分布的公式。 相似文献
55.
对 S O2-4 / Zr O2 超强酸体系作为重油催化裂化助剂进行了研究。结果表明,加入适量的 S O2-4 / Zr O2 可提高轻质油收率,并能降低催化剂生焦;在工业催化裂化高温水蒸汽流化的条件下, S O2-4 / Zr O2 超强酸体系中的 B 酸对重油催化裂化起着至关重要的作用。 相似文献
56.
此书为纪念伦敦中国艺术国际展览会而作,编者为亚士吞L.Ashtor,霍浦孙R.L.Hoson,格雷B.Gray,拉斐尔O.Raphael等,目录中中国政府出品之铜器部分则为叶慈P.Yctts教授所校订,首为目录,出品者凡十五国,总数三千○八十件,世界各国所藏中国艺术精品,略尽于此矣。次为图版,凡一百六十面,所收铜器,玉石器,造象,书画,陶磁,织绣,牙骨器,漆器,文具,家具等,约三百六十余件,而以铜器天石器,书画,陶磁为较多。 会中出品以我国政府为最多,凡一千零二十二件。我国会组织专门委员会选择出品,编撰说明。其说明即商务印书馆出版之参加伦敦中国艺术国际展览… 相似文献
57.
在理论推导和实验验证的基础上提出了文题的分析方法。采用两种折光率不同而分离特性相似的流动相,根据样品在两个流动相中两个谱图联立求解各组分浓度和折光率。对渣油芳香馏分环分布和渣油分子量分布进行了测定。环分布采用苯、萘、蒽、窟苯并芘等标记物质的洗提时间的两两平均值作为分割限。分子量分布采用聚苯乙烯和正构烷烃标样,分子量和淋洗体积在两种流动相中总线性相关系数为0.99。 相似文献
58.
Andrés E Askebjer P Bai X Barouch G Barwick SW Bay RC Becker KH Bergström L Bertrand D Bierenbaum D Biron A Booth J Botner O Bouchta A Boyce MM Carius S Chen A Chirkin D Conrad J Cooley J Costa CG Cowen DF Dailing J Dalberg E DeYoung T Desiati P Dewulf JP Doksus P Edsjö J Ekström P Erlandsson B Feser T Gaug M Goldschmidt A Goobar A Gray L Haase H Hallgren A Halzen F Hanson K Hardtke R He YD Hellwig M Heukenkamp H Hill GC Hulth PO Hundertmark S Jacobsen J Kandhadai V Karle A Kim J Koci B Köpke L 《Nature》2001,410(6827):441-443
Neutrinos are elementary particles that carry no electric charge and have little mass. As they interact only weakly with other particles, they can penetrate enormous amounts of matter, and therefore have the potential to directly convey astrophysical information from the edge of the Universe and from deep inside the most cataclysmic high-energy regions. The neutrino's great penetrating power, however, also makes this particle difficult to detect. Underground detectors have observed low-energy neutrinos from the Sun and a nearby supernova, as well as neutrinos generated in the Earth's atmosphere. But the very low fluxes of high-energy neutrinos from cosmic sources can be observed only by much larger, expandable detectors in, for example, deep water or ice. Here we report the detection of upwardly propagating atmospheric neutrinos by the ice-based Antarctic muon and neutrino detector array (AMANDA). These results establish a technology with which to build a kilometre-scale neutrino observatory necessary for astrophysical observations. 相似文献
59.
60.
Araki T Enomoto S Furuno K Gando Y Ichimura K Ikeda H Inoue K Kishimoto Y Koga M Koseki Y Maeda T Mitsui T Motoki M Nakajima K Ogawa H Ogawa M Owada K Ricol JS Shimizu I Shirai J Suekane F Suzuki A Tada K Takeuchi S Tamae K Tsuda Y Watanabe H Busenitz J Classen T Djurcic Z Keefer G Leonard D Piepke A Yakushev E Berger BE Chan YD Decowski MP Dwyer DA Freedman SJ Fujikawa BK Goldman J Gray F Heeger KM Hsu L Lesko KT Luk KB Murayama H O'Donnell T Poon AW Steiner HM Winslow LA Mauger C McKeown RD 《Nature》2005,436(7050):499-503
The detection of electron antineutrinos produced by natural radioactivity in the Earth could yield important geophysical information. The Kamioka liquid scintillator antineutrino detector (KamLAND) has the sensitivity to detect electron antineutrinos produced by the decay of 238U and 232Th within the Earth. Earth composition models suggest that the radiogenic power from these isotope decays is 16 TW, approximately half of the total measured heat dissipation rate from the Earth. Here we present results from a search for geoneutrinos with KamLAND. Assuming a Th/U mass concentration ratio of 3.9, the 90 per cent confidence interval for the total number of geoneutrinos detected is 4.5 to 54.2. This result is consistent with the central value of 19 predicted by geophysical models. Although our present data have limited statistical power, they nevertheless provide by direct means an upper limit (60 TW) for the radiogenic power of U and Th in the Earth, a quantity that is currently poorly constrained. 相似文献