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排序方式: 共有59条查询结果,搜索用时 15 毫秒
1.
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease 总被引:1,自引:0,他引:1
Trynka G Hunt KA Bockett NA Romanos J Mistry V Szperl A Bakker SF Bardella MT Bhaw-Rosun L Castillejo G de la Concha EG de Almeida RC Dias KR van Diemen CC Dubois PC Duerr RH Edkins S Franke L Fransen K Gutierrez J Heap GA Hrdlickova B Hunt S Izurieta LP Izzo V Joosten LA Langford C Mazzilli MC Mein CA Midah V Mitrovic M Mora B Morelli M Nutland S Núñez C Onengut-Gumuscu S Pearce K Platteel M Polanco I Potter S Ribes-Koninckx C Ricaño-Ponce I Rich SS Rybak A Santiago JL Senapati S Sood A 《Nature genetics》2011,43(12):1193-1201
Using variants from the 1000 Genomes Project pilot European CEU dataset and data from additional resequencing studies, we densely genotyped 183 non-HLA risk loci previously associated with immune-mediated diseases in 12,041 individuals with celiac disease (cases) and 12,228 controls. We identified 13 new celiac disease risk loci reaching genome-wide significance, bringing the number of known loci (including the HLA locus) to 40. We found multiple independent association signals at over one-third of these loci, a finding that is attributable to a combination of common, low-frequency and rare genetic variants. Compared to previously available data such as those from HapMap3, our dense genotyping in a large sample collection provided a higher resolution of the pattern of linkage disequilibrium and suggested localization of many signals to finer scale regions. In particular, 29 of the 54 fine-mapped signals seemed to be localized to single genes and, in some instances, to gene regulatory elements. Altogether, we define the complex genetic architecture of the risk regions of and refine the risk signals for celiac disease, providing the next step toward uncovering the causal mechanisms of the disease. 相似文献
2.
Ruiz-Lapuente P Comeron F Méndez J Canal R Smartt SJ Filippenko AV Kurucz RL Chornock R Foley RJ Stanishev V Ibata R 《Nature》2004,431(7012):1069-1072
The brightness of type Ia supernovae, and their homogeneity as a class, makes them powerful tools in cosmology, yet little is known about the progenitor systems of these explosions. They are thought to arise when a white dwarf accretes matter from a companion star, is compressed and undergoes a thermonuclear explosion. Unless the companion star is another white dwarf (in which case it should be destroyed by the mass-transfer process itself), it should survive and show distinguishing properties. Tycho's supernova is one of only two type Ia supernovae observed in our Galaxy, and so provides an opportunity to address observationally the identification of the surviving companion. Here we report a survey of the central region of its remnant, around the position of the explosion, which excludes red giants as the mass donor of the exploding white dwarf. We found a type G0-G2 star, similar to our Sun in surface temperature and luminosity (but lower surface gravity), moving at more than three times the mean velocity of the stars at that distance, which appears to be the surviving companion of the supernova. 相似文献
3.
Mora JR Bono MR Manjunath N Weninger W Cavanagh LL Rosemblatt M Von Andrian UH 《Nature》2003,424(6944):88-93
Whereas naive T cells migrate only to secondary lymphoid organs, activation by antigen confers to T cells the ability to home to non-lymphoid sites. Activated effector/memory T cells migrate preferentially to tissues that are connected to the secondary lymphoid organs where antigen was first encountered. Thus, oral antigens induce effector/memory cells that express essential receptors for intestinal homing, namely the integrin alpha4beta7 and CCR9, the receptor for the gut-associated chemokine TECK/CCL25 (refs 6, 8, 9). Here we show that this imprinting of gut tropism is mediated by dendritic cells from Peyer's patches. Stimulation of CD8-expressing T cells by dendritic cells from Peyer's patches, peripheral lymph nodes and spleen induced equivalent activation markers and effector activity in T cells, but only Peyer's patch dendritic cells induced high levels of alpha4beta7, responsiveness to TECK and the ability to home to the small intestine. These findings establish that Peyer's patch dendritic cells imprint gut-homing specificity on T cells, and thus license effector/memory cells to access anatomical sites most likely to contain their cognate antigen. 相似文献
4.
Hummingbirds have developed a wealth of intriguing features, such as backwards flight, ultraviolet vision, extremely high metabolic rates, nocturnal hibernation, high brain-to-body size ratio and a remarkable species-specific diversity of vocalizations. Like humans, they have also developed the rare trait of vocal learning, this being the ability to acquire vocalizations through imitation rather than instinct. Here we show, using behaviourally driven gene expression in freely ranging tropical animals, that the forebrain of hummingbirds contains seven discrete structures that are active during singing, providing the first anatomical and functional demonstration of vocal nuclei in hummingbirds. These structures are strikingly similar to seven forebrain regions that are involved in vocal learning and production in songbirds and parrots--the only other avian orders known to be vocal learners. This similarity is surprising, as songbirds, parrots and hummingbirds are thought to have evolved vocal learning and associated brain structures independently, and it indicates that strong constraints may influence the evolution of forebrain vocal nuclei. 相似文献
5.
Fulchignoni M Ferri F Angrilli F Ball AJ Bar-Nun A Barucci MA Bettanini C Bianchini G Borucki W Colombatti G Coradini M Coustenis A Debei S Falkner P Fanti G Flamini E Gaborit V Grard R Hamelin M Harri AM Hathi B Jernej I Leese MR Lehto A Lion Stoppato PF López-Moreno JJ Mäkinen T McDonnell JA McKay CP Molina-Cuberos G Neubauer FM Pirronello V Rodrigo R Saggin B Schwingenschuh K Seiff A Simões F Svedhem H Tokano T Towner MC Trautner R Withers P Zarnecki JC 《Nature》2005,438(7069):785-791
On the basis of previous ground-based and fly-by information, we knew that Titan's atmosphere was mainly nitrogen, with some methane, but its temperature and pressure profiles were poorly constrained because of uncertainties in the detailed composition. The extent of atmospheric electricity ('lightning') was also hitherto unknown. Here we report the temperature and density profiles, as determined by the Huygens Atmospheric Structure Instrument (HASI), from an altitude of 1,400 km down to the surface. In the upper part of the atmosphere, the temperature and density were both higher than expected. There is a lower ionospheric layer between 140 km and 40 km, with electrical conductivity peaking near 60 km. We may also have seen the signature of lightning. At the surface, the temperature was 93.65 +/- 0.25 K, and the pressure was 1,467 +/- 1 hPa. 相似文献
6.
Nearly all protocols requiring shared quantum information--such as quantum teleportation or key distribution--rely on entanglement between distant parties. However, entanglement is difficult to characterize experimentally. All existing techniques for doing so, including entanglement witnesses or Bell inequalities, disclose the entanglement of some quantum states but fail for other states; therefore, they cannot provide satisfactory results in general. Such methods are fundamentally different from entanglement measures that, by definition, quantify the amount of entanglement in any state. However, these measures suffer from the severe disadvantage that they typically are not directly accessible in laboratory experiments. Here we report a linear optics experiment in which we directly observe a pure-state entanglement measure, namely concurrence. Our measurement set-up includes two copies of a quantum state: these 'twin' states are prepared in the polarization and momentum degrees of freedom of two photons, and concurrence is measured with a single, local measurement on just one of the photons. 相似文献
7.
ABSTRACTTwo species of bopyrid isopods of the Bopyrinae subfamily are recorded from new localities and hosts in northeastern Brazil. Parabopyrella lata (Nierstrasz and Brender à Brandis, 1929) was recorded from the state of Ceará, found for the first time parasitising the caridean shrimp Alpheus packardii Kingsley, 1880. In addition, Probopyrus cf. pandalicola (Packard, 1879) is recorded from the state of Bahia, parasitising the palaemonid shrimp Palaemon northropi (Rankin, 1898). Taxonomic comments are provided for each species. 相似文献
8.
Luís Campos Ribeiro 《Annals of science》2020,77(1):50-70
ABSTRACTThis paper explores the rules for the expurgation of texts of astrology in the Iberian Indices of forbidden books. It addresses the prohibitions put forward in Rule IX of the Index of Trent and the bull Coeli et terrae of Sixtus V, and studies its impact on the rules and their interpretation in the Spanish and Portuguese Indices, in particular, those published in the first decades of the seventeenth century: the Spanish Index librorum prohibitorum et expurgatorum of 1612 and the Portuguese Index auctorum damnatae memoriae of 1624. It shows how these indices offer a more meticulous examination of the prohibitions providing not only more detail regarding the different practices of astrology, but also explicitly accept the doctrine of inclinations of Thomas Aquinas as a central rule to deal with astrological judgments on human behaviour. It also highlights some specific details of the practice of censorship of astrological books by examining case studies of censored Portuguese and Spanish astrological publications. These provide new dimensions and highlight significant differences between the theoretical rules, practical guidelines, and actual restriction of astrological content. 相似文献
9.
Snodgrass C Tubiana C Vincent JB Sierks H Hviid S Moissl R Boehnhardt H Barbieri C Koschny D Lamy P Rickman H Rodrigo R Carry B Lowry SC Laird RJ Weissman PR Fitzsimmons A Marchi S;OSIRIS team 《Nature》2010,467(7317):814-816
The peculiar object P/2010?A2 was discovered in January 2010 and given a cometary designation because of the presence of a trail of material, although there was no central condensation or coma. The appearance of this object, in an asteroidal orbit (small eccentricity and inclination) in the inner main asteroid belt attracted attention as a potential new member of the recently recognized class of main-belt comets. If confirmed, this new object would expand the range in heliocentric distance over which main-belt comets are found. Here we report observations of P/2010?A2 by the Rosetta spacecraft. We conclude that the trail arose from a single event, rather than a period of cometary activity, in agreement with independent results. The trail is made up of relatively large particles of millimetre to centimetre size that remain close to the parent asteroid. The shape of the trail can be explained by an initial impact ejecting large clumps of debris that disintegrated and dispersed almost immediately. We determine that this was an asteroid collision that occurred around 10 February 2009. 相似文献
10.