排序方式: 共有36条查询结果,搜索用时 15 毫秒
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Zang ZJ Cutcutache I Poon SL Zhang SL McPherson JR Tao J Rajasegaran V Heng HL Deng N Gan A Lim KH Ong CK Huang D Chin SY Tan IB Ng CC Yu W Wu Y Lee M Wu J Poh D Wan WK Rha SY So J Salto-Tellez M Yeoh KG Wong WK Zhu YJ Futreal PA Pang B Ruan Y Hillmer AM Bertrand D Nagarajan N Rozen S Teh BT Tan P 《Nature genetics》2012,44(5):570-574
Gastric cancer is a major cause of global cancer mortality. We surveyed the spectrum of somatic alterations in gastric cancer by sequencing the exomes of 15 gastric adenocarcinomas and their matched normal DNAs. Frequently mutated genes in the adenocarcinomas included TP53 (11/15 tumors), PIK3CA (3/15) and ARID1A (3/15). Cell adhesion was the most enriched biological pathway among the frequently mutated genes. A prevalence screening confirmed mutations in FAT4, a cadherin family gene, in 5% of gastric cancers (6/110) and FAT4 genomic deletions in 4% (3/83) of gastric tumors. Frequent mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) also occurred in 47% of the gastric cancers. We detected ARID1A mutations in 8% of tumors (9/110), which were associated with concurrent PIK3CA mutations and microsatellite instability. In functional assays, we observed both FAT4 and ARID1A to exert tumor-suppressor activity. Somatic inactivation of FAT4 and ARID1A may thus be key tumorigenic events in a subset of gastric cancers. 相似文献
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Vijaykrishna D Smith GJ Pybus OG Zhu H Bhatt S Poon LL Riley S Bahl J Ma SK Cheung CL Perera RA Chen H Shortridge KF Webby RJ Webster RG Guan Y Peiris JS 《Nature》2011,473(7348):519-522
Swine influenza A viruses (SwIV) cause significant economic losses in animal husbandry as well as instances of human disease and occasionally give rise to human pandemics, including that caused by the H1N1/2009 virus. The lack of systematic and longitudinal influenza surveillance in pigs has hampered attempts to reconstruct the origins of this pandemic. Most existing swine data were derived from opportunistic samples collected from diseased pigs in disparate geographical regions, not from prospective studies in defined locations, hence the evolutionary and transmission dynamics of SwIV are poorly understood. Here we quantify the epidemiological, genetic and antigenic dynamics of SwIV in Hong Kong using a data set of more than 650 SwIV isolates and more than 800 swine sera from 12?years of systematic surveillance in this region, supplemented with data stretching back 34?years. Intercontinental virus movement has led to reassortment and lineage replacement, creating an antigenically and genetically diverse virus population whose dynamics are quantitatively different from those previously observed for human influenza viruses. Our findings indicate that increased antigenic drift is associated with reassortment events and offer insights into the emergence of influenza viruses with epidemic potential in swine and humans. 相似文献
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Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis 总被引:10,自引:0,他引:10
Autosomal dominant distal renal tubular acidosis (ddRTA) is caused by mutations in SLC4A1, which encodes the polytopic chloride-bicarbonate exchanger AE1 that is normally expressed at the basolateral surface of alpha-intercalated cells in the distal nephron. Here we report that, in contrast with many disorders in which mutant membrane proteins are retained intracellularly and degraded, ddRTA can result from aberrant targeting of AE1 to the apical surface. 相似文献
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K. Wiesner E. W. K. Jay C. Demerson T. Kanno J. Křepinský Lizzie Poon T. Y. R. Tsai A. Vilím C. S. Wu 《Cellular and molecular life sciences : CMLS》1970,26(9):1030-1033
Zusammenfassung Die stereoselektive Totalsynthese eines Delphininabbauproduktes wird beschrieben. Dieses Produkt, das 5 Ringe und 5 Substituenten besitzt, ist von Delphinin aus leicht zugänglich und kann deshalb als Relais-Verbindung für die Totalsynthese dieses Alkaloids dienen.
Presented at a seminar at the Organic Chemistry Laboratory, ETH, Zurich, Switzerland on June 24, 1969. 相似文献
Presented at a seminar at the Organic Chemistry Laboratory, ETH, Zurich, Switzerland on June 24, 1969. 相似文献
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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
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Genesis of a highly pathogenic and potentially pandemic H5N1 influenza virus in eastern Asia 总被引:4,自引:0,他引:4
Li KS Guan Y Wang J Smith GJ Xu KM Duan L Rahardjo AP Puthavathana P Buranathai C Nguyen TD Estoepangestie AT Chaisingh A Auewarakul P Long HT Hanh NT Webby RJ Poon LL Chen H Shortridge KF Yuen KY Webster RG Peiris JS 《Nature》2004,430(6996):209-213
A highly pathogenic avian influenza virus, H5N1, caused disease outbreaks in poultry in China and seven other east Asian countries between late 2003 and early 2004; the same virus was fatal to humans in Thailand and Vietnam. Here we demonstrate a series of genetic reassortment events traceable to the precursor of the H5N1 viruses that caused the initial human outbreak in Hong Kong in 1997 (refs 2-4) and subsequent avian outbreaks in 2001 and 2002 (refs 5, 6). These events gave rise to a dominant H5N1 genotype (Z) in chickens and ducks that was responsible for the regional outbreak in 2003-04. Our findings indicate that domestic ducks in southern China had a central role in the generation and maintenance of this virus, and that wild birds may have contributed to the increasingly wide spread of the virus in Asia. Our results suggest that H5N1 viruses with pandemic potential have become endemic in the region and are not easily eradicable. These developments pose a threat to public and veterinary health in the region and potentially the world, and suggest that long-term control measures are required. 相似文献