| 1. |
- Aad, G., et al.
(författare)
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- 2011
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swepub:Mat__t
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| 2. |
- Aad, G., et al.
(författare)
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- 2011
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swepub:Mat__t (refereegranskat)
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| 3. |
- Aad, G., et al.
(författare)
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- 2011
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swepub:Mat__t (refereegranskat)
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| 4. |
- Aad, G., et al.
(författare)
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- 2011
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swepub:Mat__t (refereegranskat)
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| 5. |
- Aad, G., et al.
(författare)
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- 2012
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swepub:Mat__t (refereegranskat)
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| 6. |
- Aad, G., et al.
(författare)
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- 2012
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Tidskriftsartikel (refereegranskat)
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| 7. |
- Aad, G., et al.
(författare)
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- 2013
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Ingår i: Journal of Instrumentation. - 1748-0221. ; 8
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Tidskriftsartikel (refereegranskat)
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| 8. |
- Aad, G., et al.
(författare)
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Readiness of the ATLAS Tile Calorimeter for LHC collisions
- 2010
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 70:4, s. 1193-1236
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Tidskriftsartikel (refereegranskat)abstract
- The Tile hadronic calorimeter of the ATLAS detector has undergone extensive testing in the experimental hall since its installation in late 2005. The readout, control and calibration systems have been fully operational since 2007 and the detector has successfully collected data from the LHC single beams in 2008 and first collisions in 2009. This paper gives an overview of the Tile Calorimeter performance as measured using random triggers, calibration data, data from cosmic ray muons and single beam data. The detector operation status, noise characteristics and performance of the calibration systems are presented, as well as the validation of the timing and energy calibration carried out with minimum ionising cosmic ray muons data. The calibration systems' precision is well below the design value of 1%. The determination of the global energy scale was performed with an uncertainty of 4%.
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| 9. |
- Aad, G., et al.
(författare)
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The ATLAS Inner Detector commissioning and calibration
- 2010
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 70:3, s. 787-821
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Tidskriftsartikel (refereegranskat)abstract
- The ATLAS Inner Detector is a composite tracking system consisting of silicon pixels, silicon strips and straw tubes in a 2 T magnetic field. Its installation was completed in August 2008 and the detector took part in data-taking with single LHC beams and cosmic rays. The initial detector operation, hardware commissioning and in-situ calibrations are described. Tracking performance has been measured with 7.6 million cosmic-ray events, collected using a tracking trigger and reconstructed with modular pattern-recognition and fitting software. The intrinsic hit efficiency and tracking trigger efficiencies are close to 100%. Lorentz angle measurements for both electrons and holes, specific energy-loss calibration and transition radiation turn-on measurements have been performed. Different alignment techniques have been used to reconstruct the detector geometry. After the initial alignment, a transverse impact parameter resolution of 22.1 +/- 0.9 mu m and a relative momentum resolution sigma (p) /p=(4.83 +/- 0.16)x10(-4) GeV(-1)xp (T) have been measured for high momentum tracks.
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| 10. |
- Aad, G., et al.
(författare)
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The ATLAS Simulation Infrastructure
- 2010
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 70:3, s. 823-874
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Tidskriftsartikel (refereegranskat)abstract
- The simulation software for the ATLAS Experiment at the Large Hadron Collider is being used for large-scale production of events on the LHC Computing Grid. This simulation requires many components, from the generators that simulate particle collisions, through packages simulating the response of the various detectors and triggers. All of these components come together under the ATLAS simulation infrastructure. In this paper, that infrastructure is discussed, including that supporting the detector description, interfacing the event generation, and combining the GEANT4 simulation of the response of the individual detectors. Also described are the tools allowing the software validation, performance testing, and the validation of the simulated output against known physics processes.
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| 11. |
- Aad, G., et al.
(författare)
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- 2013
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Tidskriftsartikel (refereegranskat)
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| 12. |
- Aad, G., et al.
(författare)
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Studies of the performance of the ATLAS detector using cosmic-ray muons
- 2011
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 71:3
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Tidskriftsartikel (refereegranskat)abstract
- Muons from cosmic-ray interactions in the atmosphere provide a high-statistics source of particles that can be used to study the performance and calibration of the ATLAS detector. Cosmic-ray muons can penetrate to the cavern and deposit energy in all detector subsystems. Such events have played an important role in the commissioning of the detector since the start of the installation phase in 2005 and were particularly important for understanding the detector performance in the time prior to the arrival of the first LHC beams. Global cosmic-ray runs were undertaken in both 2008 and 2009 and these data have been used through to the early phases of collision data-taking as a tool for calibration, alignment and detector monitoring. These large datasets have also been used for detector performance studies, including investigations that rely on the combined performance of different subsystems. This paper presents the results of performance studies related to combined tracking, lepton identification and the reconstruction of jets and missing transverse energy. Results are compared to expectations based on a cosmic-ray event generator and a full simulation of the detector response.
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| 13. |
- Schael, S., et al.
(författare)
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Electroweak measurements in electron positron collisions at W-boson-pair energies at LEP
- 2013
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Ingår i: Physics Reports. - : Elsevier BV. - 0370-1573 .- 1873-6270. ; 532:4, s. 119-244
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Forskningsöversikt (refereegranskat)abstract
- Electroweak measurements performed with data taken at the electron positron collider LEP at CERN from 1995 to 2000 are reported. The combined data set considered in this report corresponds to a total luminosity of about 3 fb(-1) collected by the four LEP experiments ALEPH, DELPHI, 13 and OPAL, at centre-of-mass energies ranging from 130 GeV to 209 GeV. Combining the published results of the four LEP experiments, the measurements include total and differential cross-sections in photon-pair, fermion-pair and four-fermion production, the latter resulting from both double-resonant WW and ZZ production as well as singly resonant production. Total and differential cross-sections are measured precisely, providing a stringent test of the Standard Model at centre-of-mass energies never explored before in electron positron collisions. Final-state interaction effects in four-fermion production, such as those arising from colour reconnection and Bose Einstein correlations between the two W decay systems arising in WW production, are searched for and upper limits on the strength of possible effects are obtained. The data are used to determine fundamental properties of the W boson and the electroweak theory. Among others, the mass and width of the W boson, m(w) and Gamma(w), the branching fraction of W decays to hadrons, B(W -> had), and the trilinear gauge-boson self-couplings g(1)(Z), K-gamma and lambda(gamma), are determined to be: m(w) = 80.376 +/- 0.033 GeV Gamma(w) = 2.195 +/- 0.083 GeV B(W -> had) = 67.41 +/- 0.27% g(1)(Z) = 0.984(-0.020)(+0.018) K-gamma - 0.982 +/- 0.042 lambda(gamma) = 0.022 +/- 0.019. (C) 2013 Elsevier B.V. All rights reserved.
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| 14. |
- Aad, G., et al.
(författare)
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Commissioning of the ATLAS Muon Spectrometer with cosmic rays
- 2010
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 70:3, s. 875-916
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Tidskriftsartikel (refereegranskat)abstract
- The ATLAS detector at the Large Hadron Collider has collected several hundred million cosmic ray events during 2008 and 2009. These data were used to commission the Muon Spectrometer and to study the performance of the trigger and tracking chambers, their alignment, the detector control system, the data acquisition and the analysis programs. We present the performance in the relevant parameters that determine the quality of the muon measurement. We discuss the single element efficiency, resolution and noise rates, the calibration method of the detector response and of the alignment system, the track reconstruction efficiency and the momentum measurement. The results show that the detector is close to the design performance and that the Muon Spectrometer is ready to detect muons produced in high energy proton-proton collisions.
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| 15. |
- Abdallah, J., et al.
(författare)
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A study of the b-quark fragmentation function with the DELPHI detector at LEP I and an averaged distribution obtained at the Z Pole
- 2011
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 71:2, s. 1557-
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Tidskriftsartikel (refereegranskat)abstract
- The nature of b-quark jet hadronisation has been investigated using data taken at the Z peak by the DELPHI detector at LEP. Two complementary methods are used to reconstruct the energy of weakly decaying b-hadrons, E-B(weak). The average value of x(B)(weak) = E-B(weak)/E-beam is measured to be 0.699 +/- 0.011. The resulting x(B)(weak) distribution is then analysed in the framework of two choices for the perturbative contribution (parton shower and Next to Leading Log QCD calculation) in order to extract measurements of the non-perturbative contribution to be used in studies of b-hadron production in other experimental environments than LEP. In the parton shower framework, data favour the Lund model ansatz and corresponding values of its parameters have been determined within PYTHIA 6.156 from DELPHI data: a = 1.84(-0.21)(+0.23) and b = 0.642(-0.063)(+0.073) GeV-2, with a correlation factor rho = 92.2%. Combining the data on the b-quark fragmentation distributions with those obtained at the Z peak by ALEPH, OPAL and SLD, the average value of x(B)(weak) is found to be 0.7092 +/- 0.0025 and the non-perturbative fragmentation component is extracted. Using the combined distribution, a better determination of the Lund parameters is also obtained: a = 1.48(-0.10)(+0.11) and b = 0.509(-0.023)(+0.024) GeV-2, with a correlation factor rho = 92.6%.
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| 16. |
- Abdallah, J., et al.
(författare)
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Measurement of the electron structure function F-2(e) at LEP energies
- 2014
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 737, s. 39-47
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Tidskriftsartikel (refereegranskat)abstract
- The hadronic part of the electron structure function F-2(e) has been measured for the first time, using e(+)e(-) data collected by the DELPHI experiment at LEP, at centre-of-mass energies of root s = 91.2-209.5 GeV. The data analysis is simpler than that of the measurement of the photon structure function. The electron structure function F-2(e) data are compared to predictions of phenomenological models based on the photon structure function. It is shown that the contribution of large target photon virtualities is significant. The data presented can serve as a cross-check of the photon structure function F-2(gamma) analyses and help in refining existing parameterisations.
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| 17. |
- Abdallah, J., et al.
(författare)
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Measurements of CP-conserving trilinear gauge boson couplings WWV (V gamma, Z) in e(+)e(-) collisions at LEP2
- 2010
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 66:1-2, s. 35-56
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Tidskriftsartikel (refereegranskat)abstract
- The data taken by DELPHI at centre-of-mass energies between 189 and 209 GeV are used to place limits on the CP-conserving trilinear gauge boson couplings Delta g(1)(Z), lambda(gamma) and Delta k(gamma) associated to W+W- and single W production at LEP2. Using data from the jjl nu, jjjj, jjX and lX final states, where j,l and X represent a jet, a lepton and missing four-momentum, respectively, the following limits are set on the couplings when one parameter is allowed to vary and the others are set to their Standard Model values of zero: Delta g(1)(Z) =-0.025-(+0.033)(0.030,), lambda(gamma) = 0.002(-0.035)(+0.035) and Delta k(gamma) = 0.024(-0.081)(+0.077). Results are also presented when two or three parameters are allowed to vary. All observations are consistent with the predictions of the Standard Model and supersede the previous results on these gauge coupling parameters published by DELPHI.
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| 18. |
- Abdallah, J., et al.
(författare)
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Search for single top quark production via contact interactions at LEP2
- 2011
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 71:2, s. 1555-
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Tidskriftsartikel (refereegranskat)abstract
- Single top quark production via four-fermion contact interactions associated to flavour-changing neutral currents was searched for in data taken by the DELPHI detector at LEP2. The data were accumulated at centre-of-mass energies ranging from 189 to 209 GeV, with an integrated luminosity of 598.1 pb(-1). No evidence for a signal was found. Limits on the energy scale Lambda, were set for scalar-, vector- and tensor-like coupling scenarios.
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| 19. |
- Abdallah, J., et al.
(författare)
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Study of the dependence of direct soft photon production on the jet characteristics in hadronic Z (0) decays
- 2010
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 67:3-4, s. 343-366
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Tidskriftsartikel (refereegranskat)abstract
- An analysis of the direct soft photon production rate as a function of the parent jet characteristics is presented, based on hadronic events collected by the DELPHI experiment at LEP1. The dependences of the photon rates on the jet kinematic characteristics (momentum, mass, etc.) and on the jet charged, neutral and total hadron multiplicities are reported. Up to a scale factor of about four, which characterizes the overall value of the soft photon excess, a similarity of the observed soft photon behavior to that of the inner hadronic bremsstrahlung predictions is found for the momentum, mass, and jet charged multiplicity dependences. However for the dependence of the soft photon rate on the jet neutral and total hadron multiplicities a prominent difference is found for the observed soft photon signal as compared to the expected bremsstrahlung from final state hadrons. The observed linear increase of the soft photon production rate with the jet total hadron multiplicity and its strong dependence on the jet neutral multiplicity suggest that the rate is proportional to the number of quark pairs produced in the fragmentation process, with the neutral pairs being more effectively radiating than the charged ones.
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| 20. |
- Hedberg, Yolanda, et al.
(författare)
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Surface characterisation of fine inert gas and water atomised stainless steel 316L powders: formation of thermodynamically unstable surface oxide phases
- 2013
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Ingår i: Powder Metallurgy. - 0032-5899 .- 1743-2901. ; 56:2, s. 158-163
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Tidskriftsartikel (refereegranskat)abstract
- New insights are presented on the speciation of surface oxide phases on fine inert gas atomised(GA, ,45 and ,4 mm) and water atomised (WA, ,45 mm) stainless steel AISI 316L powders. Xrayphotoelectron and Auger electron spectroscopy, scanning electron microscopy, Ramanspectroscopy, and cyclic voltammetry were applied for the characterisation. Oxidisedmanganese was strongly enriched in the outermost surface oxide of the GA powders (13 and47 wt-%), an effect increasing with reduced particle size. Manganese and sulphur were enrichedin oxide nanoparticles on the surface. Oxidised silicon (59 wt-%) was enriched on the WA powdersurface. Tri- or tetravalent manganese oxides were observed on the GA particles in addition to a-Fe2O3, and Cr2O3. The oxide of the WA powder revealed in addition the likely presence of asilicate rich phase, mainly consisting of tetravalent Si, di- and/or trivalent Fe, and hexavalent Cr,which was confirmed not present as chromate.
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| 21. |
- Hedberg, Jakob, et al.
(författare)
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Low-dose acetylsalicylic acid and gastrointestinal ulcers or bleeding - a cohort study of the effects of proton pump inhibitor use patterns
- 2013
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Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 274:4, s. 371-380
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Tidskriftsartikel (refereegranskat)abstract
- Objective The aim of this study was to investigate the associations between proton pump inhibitor (PPI) usage patterns and risk of severe gastrointestinal events in patients treated with low-dose acetylsalicylic acid (LDA). Design and setting A nationwide cohort study in Sweden. Patients All Swedish residents 40years of age, without cancer and receiving LDA treatment (80% adherence for 365days between 2005 and 2009) were identified in the Swedish Prescription Register. Continuous PPI use was defined as >60 of 90days covered by daily PPI doses and further divided into high (80%) or moderate (<80) adherence. All other PPI use was defined as intermittent use. Main outcome measures The risk of a combined end-point of gastrointestinal ulcer or bleeding was analysed using Cox proportional hazard models. We also investigated risk of >45days of LDA treatment interruption. Results During a median follow-up of 2.5years, 7880 of 648807 (1.2%) LDA-treated patients experienced gastrointestinal events. In multivariable-adjusted models, both intermittent-PPI and no-PPI use were associated with increased risk of gastrointestinal ulcers or bleeding compared with continuous PPI use with a high level of adherence [hazard ratio (HR) 1.83 (95% CI 1.66-2.02) and 1.14 (95% CI 1.05-1.23), respectively]. Amongst continuous PPI users, moderate adherence also increased the risk of gastrointestinal ulcers or bleeding [HR 1.22 (95% CI 1.07-1.40)]. The risk of LDA treatment interruption was higher with intermittent PPI use [HR 1.16 (95% CI 1.14-1.19)] than continuous PPI use with high adherence. Conclusions In this large cohort of LDA users, intermittent PPI use was associated with higher risk of gastrointestinal ulcers or bleeding and interrupted LDA treatment, compared with continuous PPI use.
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| 22. |
- Hedberg, MM, et al.
(författare)
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Effect of huprine X on β-amyloid, synaptophysin and α7 neuronal nicotinic acetylcholine receptors in the brain of 3xTg-AD and APPswe transgenic mice
- 2010
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Ingår i: Neuro-degenerative diseases. - : S. Karger AG. - 1660-2862 .- 1660-2854. ; 7:6, s. 379-388
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Tidskriftsartikel (refereegranskat)abstract
- <i>Background:</i> Several studies implicate acetylcholinesterase (AChE) in the pathogenesis of Alzheimer’s disease (AD), raising the question of whether inhibitors of AChE also might act in a disease-modifying manner. Huprine X (HX), a reversible AChE inhibitor hybrid of tacrine and huperzine A, has shown to affect the amyloidogenic process in vitro<i>. </i>In this study, the aim was to investigate whether HX could affect the AD-related neuropathology in vivoin two mouse models. <i>Methods:</i>Tg2576 (K670M/N671L) (APPswe) and 3xTg-AD (K670M/N671L, PS1M146V, tauP301L) mice were treated with HX (0.12 µmol/kg, i.p., 21 days) or saline at 6–7 months. Human β-amyloid (Aβ) was measured by ELISA, synaptophysin by Western blot and α7 neuronal nicotinic acetylcholine receptors (nAChRs) were analyzed by [<sup>125</sup>I]α-bungarotoxin autoradiography. <i>Results:</i> Treatment with HX reduced insoluble Aβ1–40 (about 40%) in the hippocampus of 3xTg-AD mice, while showing no effect in APPswe mice. Additionally, HX markedly increased cortical synaptophysin levels (about 140%) and decreased (about 30%) the levels of α7 nAChRs in the caudate nucleus of 3xTg-AD mice, while increasing (about 10%) hippocampal α7 nAChRs in APPswe mice. <i>Conclusion:</i> The two mouse models react differently to HX treatment, possibly due to their differences in brain neuropathology. The modulation of Aβ and synaptophysin by HX in 3xTg-AD mice might be due to its suggested interaction with the peripheral anionic site on AChE, and/or via cholinergic mechanisms involving activation of cholinergic receptors. Our results provide further evidence that drugs targeting AChE affect some of the fundamental processes that contribute to neurodegeneration, but whether HX might act in a disease-modifying manner in AD patients remains to be proven.
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| 23. |
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| 24. |
- Hedberg, Yolanda, et al.
(författare)
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Electrochemical testing of sub-micron sized stainless steel particles
- 2011
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Ingår i: Eur. Corros. Congr., EUROCORR. - 9781618394125
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Konferensbidrag (refereegranskat)abstract
- Electrochemical testing of corrosion properties such as passivity is well established for massive stainless steels but difficult to conduct for sub-micron particles. These particles need to be attached at an inert electrode surface without changing their corrosion properties. In order to electrochemically investigate passivity properties for AISI 316L stainless steel particles sized less than 45 and 4 μm, respectively, several experimental set-ups have been explored. A paraffin impregnated graphite electrode was found to be the most suitable, reliable and reproducible set-up. Differently produced particles (gas- and water-atomized) of varying size were investigated. In addition, the effect of artificial passivation was explored. Chloride-containing media and media of relevance for human exposure, such as artificial body fluids, were used as electrolytes. For comparison, measurements were also carried out with massive 316L stainless steel. The passive properties of stainless steel particles were shown to be significantly different compared to massive 316L. All particles revealed a significantly higher open circuit potential compared with massive 316L and no passivity breakdown up to 1.2 V vs. Ag/AgCl reference electrode in neutral chloride-rich solutions was observed. No or few transient current peaks related to corrosion processes were observed in neutral solutions, but such events were numerous in aggressive acidic solutions such as 0.7% HCl. Particle dissolution effects were dependent on the particle manufacturing process, on artificial passivation, and on particle size. The relatively high open circuit potential determined for these particles (up to 0.6 V vs. Ag/AgCl in neutral saline solution) is assumed to be the consequence of manganese oxides identified on the surface of the 316L particles, which are not present on the surface of massive 316L. The electrochemical results are compared with data from parallel studies assessing metal release and surface compositional properties of the 316L particles.
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| 25. |
- Karlsson, Hanna, et al.
(författare)
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Cell membrane damage and protein interaction induced by copper containing nanoparticles-Importance of the metal release process
- 2013
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Ingår i: Toxicology. - : Elsevier BV. - 0300-483X .- 1879-3185. ; 313:1, s. 59-69
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Tidskriftsartikel (refereegranskat)abstract
- Cu-containing nanoparticles are used in various applications in order to e.g. achieve antimicrobial activities and to increase the conductivity of fluids and polymers. Several studies have reported on toxic effects of such particles but the mechanisms are not completely clear. The aim of this study was to investigate the interactions between cell membranes and well-characterized nanoparticles of CuO, Cu metal, a binary Cu-Zn alloy and micron-sized Cu metal particles. This was conducted via in vitro investigations of the effects of the nanoparticles on (i) cell membrane damage on lung epithelial cells (A549), (ii) membrane rupture of red blood cells (hemolysis), complemented by (iii) nanoparticle interaction studies with a model lipid membrane using quartz crystal microbalance with dissipation monitoring (QCM-D). The results revealed that nanoparticles of the Cu metal and the Cu-Zn alloy were both highly membrane damaging and caused a rapid (within 1 h) increase in membrane damage at a particle mass dose of 20 mu g/mL, whereas the CuO nanoparticles and the micron-sized Cu metal particles showed no such effect. At similar nanoparticle surface area doses, the nano and micron-sized Cu particles showed more similar effects. The commonly used LDH (lactate dehydrogenase) assay for analysis of membrane damage was found impossible to use due to nanoparticle-assay interactions. None of the particles induced any hemolytic effects on red blood cells when investigated up to high particle concentrations (1 mg/mL). However, both Cu and Cu-Zn nanopartides caused hemoglobin aggregation/precipitation, a process that would conceal a possible hemolytic effect. Studies on interactions between the nanoparticles and a model membrane using QCM-D indicated a small difference between the investigated particles. Results of this study suggest that the observed membrane damage is caused by the metal release process at the cell membrane surface and highlight differences in reactivity between metallic nanoparticles of Cu and Cu-Zn and nanoparticles of CuO.
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| 26. |
- Malfatti, Edoardo, et al.
(författare)
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A New Muscle Glycogen Storage Disease Associated with Glycogenin-1 Deficiency
- 2014
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Ingår i: Annals of Neurology. - : Wiley. - 0364-5134. ; 76:6, s. 891-898
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Tidskriftsartikel (refereegranskat)abstract
- We describe a slowly progressive myopathy in 7 unrelated adult patients with storage of polyglucosan in muscle fibers. Genetic investigation revealed homozygous or compound heterozygous deleterious variants in the glycogenin-1 gene (GYG1). Most patients showed depletion of glycogenin-1 in skeletal muscle, whereas 1 showed presence of glycogenin-1 lacking the C-terminal that normally binds glycogen synthase. Our results indicate that either depletion of glycogenin-1 or impaired interaction with glycogen synthase underlies this new form of glycogen storage disease that differs from a previously reported patient with GYG1 mutations who showed profound glycogen depletion in skeletal muscle and accumulation of glycogenin-1. Ann Neurol 2014;76:891-898
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| 27. |
- Müller, Matthias P, et al.
(författare)
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Exploring adenylylation and phosphocholination as post-translational modifications.
- 2014
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Ingår i: ChemBioChem. - : Wiley. - 1439-4227 .- 1439-7633. ; 15:1
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Tidskriftsartikel (refereegranskat)abstract
- Editing the translations: Adenylylation and phosphocholination have recently been found as important post-translational modifications used by pathogenic bacteria during the infection process. This review discusses the combined use of chemical handles and specific antibodies for the identification of previously unknown substrates of these post-translational modifications in infected host cells.
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| 28. |
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| 29. |
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| 30. |
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| 31. |
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| 32. |
- Sällman Almén, Markus, et al.
(författare)
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Determination of the obesity-associated gene variants within the entire FTO gene by ultra-deep targeted sequencing in obese and lean children.
- 2013
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Ingår i: International Journal of Obesity. - : Springer Science and Business Media LLC. - 0307-0565 .- 1476-5497. ; 37:3, s. 424-431
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Tidskriftsartikel (refereegranskat)abstract
- Background:The Fat mass and obesity-associated gene (FTO) was the first gene reliably associated with body mass index in genome-wide association studies on a population level. At present, the genetic variations within the FTO gene are still the common variants that have the largest influence on body mass index.Methods:In the current study, we amplified the entire FTO gene, in total 412 Kbp, in over 200 long-range PCR fragments from each individual, from 524 severely obese and 527 lean Swedish children, and sequenced the products as two DNA pools using massive parallel sequencing (SOLiD).Results:The sequencing achieved very high coverage (median 18 000 reads) and we detected and estimated allele frequencies for 705 single nucleotide polymorphisms (SNPs) (19 novel) and 40 indels (24 novel) using a sophisticated statistical approach to remove false-positive SNPs. We identified 19 obesity-associated SNPs within intron one of the FTO gene, and validated our findings with genotyping. Ten of the validated obesity-associated SNPs have a stronger obesity association (P<0.007) than the commonly studied rs9939609 SNP (P<0.012).Conclusions:This study provides a comprehensive obesity-associated variation map of FTO, identifies novel lead SNPs and evaluates putative causative variants. We conclude that intron one is the only region within the FTO gene associated with obesity, and finally, we establish next generation sequencing of pooled DNA as a powerful method to investigate genetic association with complex diseases and traits.
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| 33. |
- Titov, Leonid P., et al.
(författare)
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Evolutionary epidemiology of Neisseria meningitidis strains in Belarus compared to other European countries
- 2013
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Ingår i: Acta Microbiologica et Immunologica Hungarica. - 1217-8950. ; 60:4, s. 397-410
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Tidskriftsartikel (refereegranskat)abstract
- Introduction. Meningococcal infections are major causes of death in children globally. In Belarus, the incidence of cases and fatality rate of meningococcal infections are low and comparable to the levels in other European countries. Aim. In the present study, the molecular and epidemiological traits of Neisseria meningitidis strains circulating in Belarus were characterized and compared to isolates from other European countries. Materials and Methods. Twenty N. meningitidis strains isolated from patients (n = 13) and healthy contacts (n = 7) during 2006-2012 in Belarus were selected for multilocus sequence typing (MLST), genosubtyping and FetA typing. The STs of the Belarusian strains were phylogenetically compared to the STs of 110 selected strains from 22 other European countries. Results. Overall, eleven different genosubtypes were observed, there were seven variants of variable region of the fetA gene detected. The majority of the STs (95%) found in Belarus were novel and all those were submitted to the Neisseria MLST database for assignment. Several newly discovered alleles of fumC (allele 451) and gdh (allele 560 and 621) appeared to be descendants of alleles which are widespread in Europe, and single aroE alleles (602 and 603) occurred as a result of separate evolution. Conclusions. N. meningitidis strains circulating in Belarus are heterogeneous and include sequence types, possibly, locally evolved in Belarus as well as representatives of widespread European hyperinvasive clonal complexes.
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| 34. |
- Törös, B., et al.
(författare)
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Surveillance of invasive Neisseria meningitidis with a serogroup Y update, Sweden 2010 to 2012
- 2014
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Ingår i: Eurosurveillance. - : European Centre for Disease Prevention and Control (ECDC). - 1025-496X .- 1560-7917. ; 19:42, s. 25-33
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Tidskriftsartikel (refereegranskat)abstract
- An increase of invasive meningococcal disease caused by Neisseria meningitidis serogroup Y has been noted in Sweden since 2005, and to a lower extent throughout Europe. The present study describes the epidemiology of invasive N. meningitidis isolates in Sweden in the period between 2010 and 2012, with a focus on serogroup Y. We also aimed to find an optimal molecular typing scheme for both surveillance and outbreak investigations. All invasive N. meningitidis isolates in Sweden during the study period (n=208) were genetically characterised. Serogroup Y predominated with 22/57, 31/61 and 44/90 of all invasive isolates (incidence 0.23, 0.33 and 0.46 per 100,000 population) in 2010, 2011 and 2012 respectively. In each of these years, 15/22, 22/31 and 19/44 of serogroup Y isolates were genetically clonal (Y: P1.5-2,10-1,36-2: F4-1: ST-23(cc23), 'porB allele 3-36, fHbp allele 25 and penA allele 22). Our findings further support those of others that currently recommended FetA typing could be replaced by FHbp. Moreover, in line with a previous study that we conducted, the current results indicate that highly variable multilocus variable-number tandem repeat analysis (HV-MLVA) can be used as a first-hand rapid method for small outbreak investigations.
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