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- Zhou, XP, et al.
(författare)
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Non-coding variability at the APOE locus contributes to the Alzheimer's risk
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 3310-
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Tidskriftsartikel (refereegranskat)abstract
- Alzheimer’s disease (AD) is a leading cause of mortality in the elderly. While the coding change of APOE-ε4 is a key risk factor for late-onset AD and has been believed to be the only risk factor in the APOE locus, it does not fully explain the risk effect conferred by the locus. Here, we report the identification of AD causal variants in PVRL2 and APOC1 regions in proximity to APOE and define common risk haplotypes independent of APOE-ε4 coding change. These risk haplotypes are associated with changes of AD-related endophenotypes including cognitive performance, and altered expression of APOE and its nearby genes in the human brain and blood. High-throughput genome-wide chromosome conformation capture analysis further supports the roles of these risk haplotypes in modulating chromatin states and gene expression in the brain. Our findings provide compelling evidence for additional risk factors in the APOE locus that contribute to AD pathogenesis.
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| 6. |
- Edgecock, T. R., et al.
(författare)
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High intensity neutrino oscillation facilities in Europe
- 2013
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Ingår i: Physical Review Special Topics - Accelerators and Beams. - : American Physical Society. - 1098-4402. ; 16:2, s. 021002-
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Tidskriftsartikel (refereegranskat)abstract
- The EUROnu project has studied three possible options for future, high intensity neutrino oscillation facilities in Europe. The first is a Super Beam, in which the neutrinos come from the decay of pions created by bombarding targets with a 4 MW proton beam from the CERN High Power Superconducting Proton Linac. The far detector for this facility is the 500 kt MEMPHYS water Cherenkov, located in the Frejus tunnel. The second facility is the Neutrino Factory, in which the neutrinos come from the decay of mu(+) and mu(-) beams in a storage ring. The far detector in this case is a 100 kt magnetized iron neutrino detector at a baseline of 2000 km. The third option is a Beta Beam, in which the neutrinos come from the decay of beta emitting isotopes, in particular He-6 and Ne-18, also stored in a ring. The far detector is also the MEMPHYS detector in the Frejus tunnel. EUROnu has undertaken conceptual designs of these facilities and studied the performance of the detectors. Based on this, it has determined the physics reach of each facility, in particular for the measurement of CP violation in the lepton sector, and estimated the cost of construction. These have demonstrated that the best facility to build is the Neutrino Factory. However, if a powerful proton driver is constructed for another purpose or if the MEMPHYS detector is built for astroparticle physics, the Super Beam also becomes very attractive.
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- Fridlund, Malcolm, 1952, et al.
(författare)
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The TOI-763 system: Sub-Neptunes orbiting a Sun-like star
- 2020
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 498:3, s. 4503-4517
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Tidskriftsartikel (refereegranskat)abstract
- We report the discovery of a planetary system orbiting TOI-763(aka CD-39 7945), a V = 10.2, high proper motion G-type dwarf star that was photometrically monitored by the TESS space mission in Sector 10. We obtain and model the stellar spectrum and find an object slightly smaller than the Sun, and somewhat older, but with a similar metallicity. Two planet candidates were found in the light curve to be transiting the star. Combining TESS transit photometry with HARPS high-precision radial velocity (RV) follow-up measurements confirm the planetary nature of these transit signals. We determine masses, radii, and bulk densities of these two planets. A third planet candidate was discovered serendipitously in the RV data. The inner transiting planet, TOI-763 b, has an orbital period of Pb = 5.6 d, a mass of Mb = 9.8 ± 0.8 M⊕, and a radius of Rb = 2.37 ± 0.10 R⊕. The second transiting planet, TOI-763 c, has an orbital period of Pc = 12.3 d, a mass of Mc = 9.3 ± 1.0 M⊕, and a radius of Rc = 2.87 ± 0.11 R⊕. We find the outermost planet candidate to orbit the star with a period of ∼48 d. If confirmed as a planet, it would have a minimum mass of Md = 9.5 ± 1.6 M⊕. We investigated the TESS light curve in order to search for a mono transit by planet d without success. We discuss the importance and implications of this planetary system in terms of the geometrical arrangements of planets orbiting G-type stars.
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- Villanueva-Martin, G, et al.
(författare)
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The Effect of Body Fat Distribution on Systemic Sclerosis
- 2022
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Ingår i: Journal of clinical medicine. - : MDPI AG. - 2077-0383. ; 11:20
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Tidskriftsartikel (refereegranskat)abstract
- Obesity contributes to a chronic proinflammatory state, which is a known risk factor to develop immune-mediated diseases. However, its role in systemic sclerosis (SSc) remains to be elucidated. Therefore, we conducted a two-sample mendelian randomization (2SMR) study to analyze the effect of three body fat distribution parameters in SSc. As instrumental variables, we used the allele effects described for single nucleotide polymorphisms (SNPs) in different genome-wide association studies (GWAS) for SSc, body mass index (BMI), waist-to-hip ratio (WHR) and WHR adjusted for BMI (WHRadjBMI). We performed local (pHESS) and genome-wide (LDSC) genetic correlation analyses between each of the traits and SSc and we applied several Mendelian randomization (MR) methods (i.e., random effects inverse-variance weight, MR-Egger regression, MR pleiotropy residual sum and outlier method and a multivariable model). Our results show no genetic correlation or causal relationship between any of these traits and SSc. Nevertheless, we observed a negative causal association between WHRadjBMI and SSc, which might be due to the effect of gastrointestinal complications suffered by the majority of SSc patients. In conclusion, reverse causality might be an especially difficult confounding factor to define the effect of obesity in the onset of SSc.
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| 9. |
- von Schiller, D., et al.
(författare)
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Sediment Respiration Pulses in Intermittent Rivers and Ephemeral Streams
- 2019
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Ingår i: Global Biogeochemical Cycles. - : American Geophysical Union (AGU). - 0886-6236 .- 1944-9224. ; 33:10, s. 1251-1263
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Tidskriftsartikel (refereegranskat)abstract
- Intermittent rivers and ephemeral streams (IRES) may represent over half the global stream network, but their contribution to respiration and carbon dioxide (CO2) emissions is largely undetermined. In particular, little is known about the variability and drivers of respiration in IRES sediments upon rewetting, which could result in large pulses of CO2. We present a global study examining sediments from 200 dry IRES reaches spanning multiple biomes. Results from standardized assays show that mean respiration increased 32-fold to 66-fold upon sediment rewetting. Structural equation modeling indicates that this response was driven by sediment texture and organic matter quantity and quality, which, in turn, were influenced by climate, land use, and riparian plant cover. Our estimates suggest that respiration pulses resulting from rewetting of IRES sediments could contribute significantly to annual CO2 emissions from the global stream network, with a single respiration pulse potentially increasing emission by 0.2-0.7%. As the spatial and temporal extent of IRES increases globally, our results highlight the importance of recognizing the influence of wetting-drying cycles on respiration and CO2 emissions in stream networks.
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- Aguilar-Vazquez, A, et al.
(författare)
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Impaired muscle strength is associated with ultrastructure damage in myositis
- 2022
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 12:1, s. 17671-
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Tidskriftsartikel (refereegranskat)abstract
- The muscle fiber ultrastructure in Idiopathic Inflammatory Myopathies (IIM) has been scarcely explored, especially in Inclusion Body Myositis. The aim of this study was to implement the Scanning Electron Microscopy (SEM) in a small cohort of IIM patients, together with the characterization of immunological profile for a better understanding of the pathophysiology. For immunological profile characterization, we identified the presence of autoantibodies (Ro-52, OJ, EJ, PL7, PL12, SRP, Jo-1, PMScl75, PMScl100, Ku, SAE1, NXP2, MDA5, TIF1γ, Mi-2α, Mi-2β) and quantified cytokines (IL-1β, IFN-α2, IFN-γ, TNF-α, IL-6, IL-10, IL-12p70, IL-17A, IL-18, IL-23, IL-33) and chemokines (CCL2, CXCL8). The histological analysis was made by hematoxylin–eosin staining while the muscle fiber ultrastructure was characterized by SEM. We observed changes in the morphology and structure of the muscle fiber according to muscle strength and muscle enzymes. We were able to find and describe muscle fiber ultrastructure with marked irregularities, porosities, disruption in the linearity and integrity of the fascicle, more evident in patients with increased serum levels of muscle enzymes and diminished muscle strength. Despite the scarce reports about the use of SEM as a tool in all clinical phenotypes of IIM, our work provides an excellent opportunity to discuss and reframe the clinical usefulness of SEM in the diagnostic approach of IIM.
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| 11. |
- Datry, T., et al.
(författare)
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A global analysis of terrestrial plant litter dynamics in non-perennial waterways
- 2018
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Ingår i: Nature Geoscience. - : Nature Publishing Group. - 1752-0894 .- 1752-0908. ; 11:7, s. 497-503
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Tidskriftsartikel (refereegranskat)abstract
- Perennial rivers and streams make a disproportionate contribution to global carbon (C) cycling. However, the contribution of intermittent rivers and ephemeral streams (IRES), which sometimes cease to flow and can dry completely, is largely ignored although they represent over half the global river network. Substantial amounts of terrestrial plant litter (TPL) accumulate in dry riverbeds and, upon rewetting, this material can undergo rapid microbial processing. We present the results of a global research collaboration that collected and analysed TPL from 212 dry riverbeds across major environmental gradients and climate zones. We assessed litter decomposability by quantifying the litter carbon-to-nitrogen ratio and oxygen (O2) consumption in standardized assays and estimated the potential short-term CO2 emissions during rewetting events. Aridity, cover of riparian vegetation, channel width and dry-phase duration explained most variability in the quantity and decomposability of plant litter in IRES. Our estimates indicate that a single pulse of CO2 emission upon litter rewetting contributes up to 10% of the daily CO2 emission from perennial rivers and stream, particularly in temperate climates. This indicates that the contributions of IRES should be included in global C-cycling assessments.
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| 12. |
- Johnson, M.C., et al.
(författare)
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K2-260 b: A hot Jupiter transiting an F star, and K2-261 b: A warm Saturn around a bright G star
- 2018
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 481:1, s. 596-612
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Tidskriftsartikel (refereegranskat)abstract
- We present the discovery and confirmation of two new transiting giant planets from the Kepler extended mission K2. K2-260 b is a hot Jupiter transiting a V = 12.7 F6V star in K2 Field 13, with a mass and radius of M = 1.39-0.06+0.05M⊙and R = 1.69 ± 0.03 R. The planet has an orbital period of P = 2.627 d, and a mass and radius of MP= 1.42-0.32+0.31MJand RP= 1.552-0.057+0.048RJ. This is the first K2 hot Jupiter with a detected secondary eclipse in the Kepler bandpass, with a depth of 71 ± 15 ppm, which we use to estimate a geometric albedo of Ag~ 0.2. We also detected a candidate stellar companion at 0.6 arcsec from K2-260; we find that it is very likely physically associated with the system, in which case it would be an M5-6V star at a projected separation of ~400 au. K2-261 b is a warm Saturn transiting a bright (V = 10.5) G7IV/V star in K2 Field 14. The host star is a metal rich ([Fe/H] = 0.36 ± 0.06), mildly evolved 1.10-0.02+0.01M⊙star with R = 1.65 ± 0.04 R. Thanks to its location near the main-sequence turn-off, we can measure a relatively precise age of 8.8-0.3+0.4Gyr. The planet has P = 11.633 d, MP= 0.223 ± 0.031 MJ, and RP= 0.850-0.022+0.026RJ, and its orbit is eccentric (e = 0.39 ± 0.15). Its brightness and relatively large transit depth make this one of the best-known warm Saturns for follow-up observations to further characterize the planetary system.
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| 13. |
- Moreno-Garcia, D., et al.
(författare)
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A Resonant Graphene NEMS Vibrometer
- 2022
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Ingår i: Small. - : Wiley. - 1613-6810 .- 1613-6829. ; 18:28
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Tidskriftsartikel (refereegranskat)abstract
- Measuring vibrations is essential to ensuring building structural safety and machine stability. Predictive maintenance is a central internet of things (IoT) application within the new industrial revolution, where sustainability and performance increase over time are going to be paramount. To reduce the footprint and cost of vibration sensors while improving their performance, new sensor concepts are needed. Here, double-layer graphene membranes are utilized with a suspended silicon proof demonstrating their operation as resonant vibration sensors that show outstanding performance for a given footprint and proof mass. The unveiled sensing effect is based on resonant transduction and has important implications for experimental studies involving thin nano and micro mechanical resonators that are excited by an external shaker.
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