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Replicating genotype-phenotype associations 总被引:1,自引:0,他引:1
NCI-NHGRI Working Group on Replication in Association Studies Chanock SJ Manolio T Boehnke M Boerwinkle E Hunter DJ Thomas G Hirschhorn JN Abecasis G Altshuler D Bailey-Wilson JE Brooks LD Cardon LR Daly M Donnelly P Fraumeni JF Freimer NB Gerhard DS Gunter C Guttmacher AE Guyer MS Harris EL Hoh J Hoover R Kong CA Merikangas KR Morton CC Palmer LJ Phimister EG Rice JP Roberts J Rotimi C Tucker MA Vogan KJ Wacholder S Wijsman EM Winn DM Collins FS 《Nature》2007,447(7145):655-660
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Nico JS Dewey MS Gentile TR Mumm HP Thompson AK Fisher BM Kremsky I Wietfeldt FE Chupp TE Cooper RL Beise EJ Kiriluk KG Byrne J Coakley KJ 《Nature》2006,444(7122):1059-1062
The theory of quantum electrodynamics (QED) predicts that beta decay of the neutron into a proton, electron and antineutrino should be accompanied by a continuous spectrum of soft photons. While this inner bremsstrahlung branch has been previously measured in nuclear beta and electron capture decay, it has never been observed in free neutron decay. Recently, the photon energy spectrum and branching ratio for neutron radiative decay have been calculated using two approaches: a standard QED framework and heavy baryon chiral perturbation theory (an effective theory of hadrons based on the symmetries of quantum chromodynamics). The QED calculation treats the nucleons as point-like, whereas the latter approach includes the effect of nucleon structure in a systematic way. Here we observe the radiative decay mode of free neutrons, measuring photons in coincidence with both the emitted electron and proton. We determined a branching ratio of (3.13 +/- 0.34) x 10(-3) (68 per cent level of confidence) in the energy region between 15 and 340 keV, where the uncertainty is dominated by systematic effects. The value is consistent with the predictions of both theoretical approaches; the characteristic energy spectrum of the radiated photons, which differs from the uncorrelated background spectrum, is also consistent with the calculated spectrum. This result may provide opportunities for more detailed investigations of the weak interaction processes involved in neutron beta decay. 相似文献
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Ionotropic glutamate receptors mediate fast excitatory synaptic transmission in the central nervous system. Their modulation is believed to affect learning and memory, and their dysfunction has been implicated in the pathogenesis of neurological and psychiatric diseases. Despite a wealth of functional data, little is known about the intact, three-dimensional structure of these ligand-gated ion channels. Here, we present the structure of native AMPA receptors (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid; AMPA-Rs) purified from rat brain, as determined by single-particle electron microscopy. Unlike the homotetrameric recombinant GluR2 (ref. 3), the native heterotetrameric AMPA-R adopted various conformations, which reflect primarily a variable separation of the two dimeric extracellular amino-terminal domains. Members of the stargazin/TARP family of transmembrane proteins co-purified with AMPA-Rs and contributed to the density representing the transmembrane region of the complex. Glutamate and cyclothiazide markedly altered the conformational equilibrium of the channel complex, suggesting that desensitization is related to separation of the N-terminal domains. These data provide a glimpse of the conformational changes of an important ligand-gated ion channel of the brain. 相似文献
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1994年和1995年夏季在加拿大Saskatchewa n省Prince Albert市北部森林测定环境条件对欧洲杨(Populus tremuloides Michx.), 胶杨(Populus balsamifera L.),榛子(Corylus cornuta Marsh.),短叶松(Pin us banksiana Lamb.)和黑云杉(Picea mariana (Mill) BSP)气体交换的影响.气体交换率的测定使用便携式气体交换系统(LI-6200).结果表明光合作用光流动量(PPFD)、气温(Ta)、蒸气压差(VPD)和体内二氧化碳浓度(Ci)均对气体交换有显著影响,但对不同树种影响程度不同.在大气二氧化碳浓度(Ca)和相对稳定的气温和蒸气压差下,欧洲杨比短叶松和黑云杉有较高光饱和点、同化量子产量(Φ)、在饱和PPFD下最高同化率(Pm)和较低的光补偿点(LCP).对欧洲杨树,幼龄树比老龄树有较高光合能力,且生长季早期光合能力比后期高.欧洲杨和短叶松的气孔导度(gs)随PPFD增加而增加.但黑云杉gs不受PPFD影响.在高光强下(PPFD>1 000 μmol*m-2s-1),欧洲杨幼树被光叶片比曝光叶片表现较低的净二氧化碳同化率(A)、gs和暗呼吸(Rd).短叶松和黑云杉Pm、Φ和Rd没有统计上差异.在高光强下,当气温从15℃增至35℃时,欧洲杨A和gs增加,黑云杉的降低,而短叶松没有明显变化.欧洲杨A和gs最高值的适宜的气温是24℃~29℃,短叶松是22℃~28 ℃,黑云杉是21℃~27℃.VPD明显影响欧洲杨、短叶松和黑云杉的气体交换,A和gs 均随VPD降低而增高.短叶松和黑云杉当年生树枝A通常比一年龄和二年龄树枝低.两个针叶树种一年龄和二年龄树枝的气体交换没有明显差异.A-Ci反应的斜率(即羧化效率(CE))取决于PPFD、树种和树龄.一般情况下,CE遵循以下模式:欧洲杨>胶杨>榛子>短叶松, 欧洲杨幼树>老树.总的结果表明尽管Ci、Ta和VPD改变光合作用效率,但光是最主要的因子 .在高光强下,影响气体交换的环境因子是气温和蒸气压差. 相似文献