排序方式: 共有37条查询结果,搜索用时 15 毫秒
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Chasman DI Schürks M Anttila V de Vries B Schminke U Launer LJ Terwindt GM van den Maagdenberg AM Fendrich K Völzke H Ernst F Griffiths LR Buring JE Kallela M Freilinger T Kubisch C Ridker PM Palotie A Ferrari MD Hoffmann W Zee RY Kurth T 《Nature genetics》2011,43(7):695-698
Migraine is a common, heterogeneous and heritable neurological disorder. Its pathophysiology is incompletely understood, and its genetic influences at the population level are unknown. In a population-based genome-wide analysis including 5,122 migraineurs and 18,108 non-migraineurs, rs2651899 (1p36.32, PRDM16), rs10166942 (2q37.1, TRPM8) and rs11172113 (12q13.3, LRP1) were among the top seven associations (P < 5 × 10(-6)) with migraine. These SNPs were significant in a meta-analysis among three replication cohorts and met genome-wide significance in a meta-analysis combining the discovery and replication cohorts (rs2651899, odds ratio (OR) = 1.11, P = 3.8 × 10(-9); rs10166942, OR = 0.85, P = 5.5 × 10(-12); and rs11172113, OR = 0.90, P = 4.3 × 10(-9)). The associations at rs2651899 and rs10166942 were specific for migraine compared with non-migraine headache. None of the three SNP associations was preferential for migraine with aura or without aura, nor were any associations specific for migraine features. TRPM8 has been the focus of neuropathic pain models, whereas LRP1 modulates neuronal glutamate signaling, plausibly linking both genes to migraine pathophysiology. 相似文献
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Maturation trends indicative of rapid evolution preceded the collapse of northern cod 总被引:1,自引:0,他引:1
Northern cod, comprising populations of Atlantic cod (Gadus morhua) off southern Labrador and eastern Newfoundland, supported major fisheries for hundreds of years. But in the late 1980s and early 1990s, northern cod underwent one of the worst collapses in the history of fisheries. The Canadian government closed the directed fishing for northern cod in July 1992, but even after a decade-long offshore moratorium, population sizes remain historically low. Here we show that, up until the moratorium, the life history of northern cod continually shifted towards maturation at earlier ages and smaller sizes. Because confounding effects of mortality changes and growth-mediated phenotypic plasticity are accounted for in our analyses, this finding strongly suggests fisheries-induced evolution of maturation patterns in the direction predicted by theory. We propose that fisheries managers could use the method described here as a tool to provide warning signals about changes in life history before more overt evidence of population decline becomes manifest. 相似文献
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Kalscheuer VM Freude K Musante L Jensen LR Yntema HG Gécz J Sefiani A Hoffmann K Moser B Haas S Gurok U Haesler S Aranda B Nshedjan A Tzschach A Hartmann N Roloff TC Shoichet S Hagens O Tao J Van Bokhoven H Turner G Chelly J Moraine C Fryns JP Nuber U Hoeltzenbein M Scharff C Scherthan H Lenzner S Hamel BC Schweiger S Ropers HH 《Nature genetics》2003,35(4):313-315
We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder. 相似文献
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A Regensburger C Bersch MA Miri G Onishchukov DN Christodoulides U Peschel 《Nature》2012,488(7410):167-171
The development of new artificial structures and materials is today one of the major research challenges in optics. In most studies so far, the design of such structures has been based on the judicious manipulation of their refractive index properties. Recently, the prospect of simultaneously using gain and loss was suggested as a new way of achieving optical behaviour that is at present unattainable with standard arrangements. What facilitated these quests is the recently developed notion of 'parity-time symmetry' in optical systems, which allows a controlled interplay between gain and loss. Here we report the experimental observation of light transport in large-scale temporal lattices that are parity-time symmetric. In addition, we demonstrate that periodic structures respecting this symmetry can act as unidirectional invisible media when operated near their exceptional points. Our experimental results represent a step in the application of concepts from parity-time symmetry to a new generation of multifunctional optical devices and networks. 相似文献
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Climate change: Acid test for marine biodiversity 总被引:1,自引:0,他引:1
Riebesell U 《Nature》2008,454(7200):46-47
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Ulf Persson 《Foundations of Science》2016,21(3):461-475
This is a response to a claim by Sven Ove Hansson to the effect that Poppers dictum that falsification lies at the heart of all pursuit of science has once and for all been falsified by his study of articles published in Nature during the year 2000. We claim that this is based on a misunderstanding of Poppers philosophy of science interpreting it too literally, and that alternative readings of those papers are fully compliant with falsification. We scrutinize Hansson’s arguments as well as giving an overview of Poppers falsification theory. 相似文献
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van den Bogaart G Meyenberg K Risselada HJ Amin H Willig KI Hubrich BE Dier M Hell SW Grubmüller H Diederichsen U Jahn R 《Nature》2011,479(7374):552-555
Neuronal exocytosis is catalysed by the SNAP receptor protein syntaxin-1A, which is clustered in the plasma membrane at sites where synaptic vesicles undergo exocytosis. However, how syntaxin-1A is sequestered is unknown. Here we show that syntaxin clustering is mediated by electrostatic interactions with the strongly anionic lipid phosphatidylinositol-4,5-bisphosphate (PIP2). Using super-resolution stimulated-emission depletion microscopy on the plasma membranes of PC12 cells, we found that PIP2 is the dominant inner-leaflet lipid in microdomains about 73 nanometres in size. This high accumulation of PIP2 was required for syntaxin-1A sequestering, as destruction of PIP2 by the phosphatase synaptojanin-1 reduced syntaxin-1A clustering. Furthermore, co-reconstitution of PIP2 and the carboxy-terminal part of syntaxin-1A in artificial giant unilamellar vesicles resulted in segregation of PIP2 and syntaxin-1A into distinct domains even when cholesterol was absent. Our results demonstrate that electrostatic protein-lipid interactions can result in the formation of microdomains independently of cholesterol or lipid phases. 相似文献