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1.
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2.
  • Abelev, B., et al. (författare)
  • Charged jet cross sections and properties in proton-proton collisions at root s=7 TeV
  • 2015
  • Ingår i: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 91:11
  • Tidskriftsartikel (refereegranskat)abstract
    • The differential charged jet cross sections, jet fragmentation distributions, and jet shapes are measured in minimum bias proton-proton collisions at center-of-mass energy root s = 7 TeV using the ALICE detector at the LHC. Jets are reconstructed from charged particle momenta in the midrapidity region using the sequential recombination k(T) and anti-k(T) as well as the SISCone jet finding algorithms with several resolution parameters in the range R = 0.2-0.6. Differential jet production cross sections measured with the three jet finders are in agreement in the transverse momentum (p(T)) interval 20 < p(T)(jet,ch) < 100 GeV/c. They are also consistent with prior measurements carried out at the LHC by the ATLAS Collaboration. The jet charged particle multiplicity rises monotonically with increasing jet p(T), in qualitative agreement with prior observations at lower energies. The transverse profiles of leading jets are investigated using radial momentum density distributions as well as distributions of the average radius containing 80% (< R-80 >) of the reconstructed jet p(T). The fragmentation of leading jets with R = 0.4 using scaled p(T) spectra of the jet constituents is studied. The measurements are compared to model calculations from event generators (PYTHIA, PHOJET, HERWIG). The measured radial density distributions and < R-80 > distributions are well described by the PYTHIA model (tune Perugia-2011). The fragmentation distributions are better described by HERWIG.
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3.
  • Abelev, B., et al. (författare)
  • Inclusive photon production at forward rapidities in proton-proton collisions at root s=0.9, 2.76 and 7 TeV
  • 2015
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 75:4
  • Tidskriftsartikel (refereegranskat)abstract
    • The multiplicity and pseudorapidity distributions of inclusive photons have been measured at forward rapidities (2.3 < eta < 3.9) in proton-proton collisions at three center-of-mass energies, root s = 0.9, 2.76 and 7 TeV using the ALICE detector. It is observed that the increase in the average photon multiplicity as a function of beam energy is compatible with both a logarithmic and a power-law dependence. The relative increase in average photon multiplicity produced in inelastic pp collisions at 2.76 and 7 TeV center-of-mass energies with respect to 0.9 TeV are 37.2 +/- 0.3% (stat) +/- 8.8% (sys) and 61.2 +/- 0.3% (stat) +/- 7.6% (sys), respectively. The photon multiplicity distributions for all center-of-mass energies are well described by negative binomial distributions. The multiplicity distributions are also presented in terms of KNO variables. The results are compared to model predictions, which are found in general to underestimate the data at large photon multiplicities, in particular at the highest center-of-mass energy. Limiting fragmentation behavior of photons has been explored with the data, but is not observed in the measured pseudorapidity range.
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4.
  • Abelev, B., et al. (författare)
  • Production of inclusive gamma(1S) and gamma(2S) in p-Pb collisions at, root S-NN=5.02 TeV
  • 2015
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 740, s. 105-117
  • Tidskriftsartikel (refereegranskat)abstract
    • We report on the production of inclusive gamma(1S) and gamma(2S) in p-Pb collisions at root S-NN = 5.02 TeV at the LHC. The measurement is performed with the ALICE detector at backward (-4.46 < ycms < 2.96) and forward (2.03 < ycms <3.53) rapidity down to zero transverse momentum. The production cross sections of the gamma(1S) and gamma(2S) are presented, as well as the nuclear modification factor and the ratio of the forward to backward yields of gamma(1S). A suppression of the inclusive gamma(1S) yield in p-Pb collisions with respect to the yield from pp collisions scaled by the number of binary nucleon-nucleon collisions is observed at forward rapidity but not at backward rapidity. The results are compared to theoretical model calculations including nuclear shadowing or partonic energy loss effects. (C) 2014 The Authors. Published by Elsevier B.V.
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5.
  • Abelev, B., et al. (författare)
  • Production of Sigma (1385)(+/-) and Xi (1530)(0) in proton-proton collisions at root s=7 TeV
  • 2015
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 75:1
  • Tidskriftsartikel (refereegranskat)abstract
    • The production of the strange and double-strange baryon resonances (Sigma (1385)(+/-), Xi (1530)(0)) has been measured at mid-rapidity (vertical bar y vertical bar < 0.5) in proton-proton collisions at root s = 7 TeV with the ALICE detector at the LHC. Transverse momentum spectra for inelastic collisions are compared to QCD-inspired models, which in general underpredict the data. A search for the phi (1860) pentaquark, decaying in the Xi pi channel, has been carried out but no evidence is seen.
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6.
  • Adam, J., et al. (författare)
  • Centrality dependence of high-p(T) D meson suppression in Pb-Pb collisions at root s(NN)=2.76 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :11
  • Tidskriftsartikel (refereegranskat)abstract
    • The nuclear modification factor, R-AA, of the prompt charmed mesons D-0, D+ and D*+, and their antiparticles, was measured with the ALICE detector in Pb-Pb collisions at a centre-of-mass energy root s(NN) = 2 : 76 TeV in two transverse momentum intervals, 5 < p(T) < 8 GeV/c and 8 < p(T) < 16 GeV/c, and in six collision centrality classes. The R-AA shows a maximum suppression of a factor of 5{6 in the 10% most central collisions. The suppression and its centrality dependence are compatible within uncertainties with those of charged pions. A comparison with the R-AA of non-prompt J/psi from B meson decays, measured by the CMS Collaboration, hints at a larger suppression of D mesons in the most central collisions.
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7.
  • Adam, J., et al. (författare)
  • Centrality dependence of inclusive J/psi production in p-Pb collisions at root S-NN=5.02TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :11
  • Tidskriftsartikel (refereegranskat)abstract
    • We present a measurement of inclusive J/psi production in p-Pb collisions at root S-NN = 5.02 TeV as a function of the centrality of the collision, as estimated from the energy deposited in the Zero Degree Calorimeters. The measurement is performed with the ALICE detector down to zero transverse momentum, p(T), in the backward (-4.46 < y(cms) < -2.96) and forward (2.03 < y(cms) < 3.53) rapidity intervals in the dimuon decay channel and in the mid-rapidity region (-1.37 < y(cms) < 0.43) in the dielectron decay channel. The backward and forward rapidity intervals correspond to the Pb-going and p-going direction, respectively. The p(T)-differential J/psi production cross section at backward and forward rapidity is measured for several centrality classes, together with the corresponding average p(T) and p(T)(2) values. The nuclear modification factor is presented as a function of centrality for the three rapidity intervals, and as a function of p(T) for several centrality classes at backward and forward rapidity. At mid-and forward rapidity, the J/psi yield is suppressed up to 40% compared to that in pp interactions scaled by the number of binary collisions. The degree of suppression increases towards central p-Pb collisions at forward rapidity, and with decreasing p(T) of the J/psi. At backward rapidity, the nuclear modification factor is compatible with unity within the total uncertainties, with an increasing trend from peripheral to central p-Pb collisions.
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8.
  • Adam, J., et al. (författare)
  • Measurement of jet quenching with semi-inclusive hadron-jet distributions in central Pb-Pb collisions at root s(NN)=2.76 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :9
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the measurement of a new observable of jet quenching in central Pb-Pb collisions at root s(NN) = 2.76 TeV, based on the semi-inclusive rate of charged jets recoiling from a high transverse momentum (high-p T) charged hadron trigger. Jets are measured using collinear-safe jet reconstruction with infrared cutoff for jet constituents of 0.15 GeV, for jet resolution parameters R = 0.2, 0.4 and 0.5. Underlying event background is corrected at the event-ensemble level, without imposing bias on the jet population. Recoil jet spectra are reported in the range 20 < p(T,jet)(ch) < 100 GeV. Reference distributions for pp collisions at root s = 2.76TeV are calculated using Monte Carlo and NLO pQCD methods, which are validated by comparing with measurements in pp collisions at root s = 7TeV. The recoil jet yield in central Pb-Pb collisions is found to be suppressed relative to that in pp collisions. No significant medium-induced broadening of the intra-jet energy profile is observed within 0.5 radians relative to the recoil jet axis. The angular distribution of the recoil jet yield relative to the trigger axis is found to be similar in central Pb-Pb and pp collisions, with no significant medium-induced acoplanarity observed. Large-angle jet deflection, which may provide a direct probe of the nature of the quasi-particles in hot QCD matter, is explored.
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9.
  • Adam, J., et al. (författare)
  • One-dimensional pion, kaon, and proton femtoscopy in Pb-Pb collisions at root(NN)-N-S=2.76 TeV
  • 2015
  • Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 92:5
  • Tidskriftsartikel (refereegranskat)abstract
    • The size of the particle emission region in high-energy collisions can be deduced using the femtoscopic correlations of particle pairs at low relative momentum. Such correlations arise due to quantum statistics and Coulomb and strong final state interactions. In this paper, results are presented from femtoscopic analyses of pi(+/-) pi(+/-), K-+/- K-+/-, K-S(0) K-S(0), pp, and (pp) over bar correlations from Pb-Pb collisions at root s(NN) = 2.76 TeV by the ALICE experiment at the LHC. One-dimensional radii of the system are extracted from correlation functions in terms of the invariant momentum difference of the pair. The comparison of the measured radii with the predictions from a hydrokinetic model is discussed. The pion and kaon source radii display a monotonic decrease with increasing average pair transverse mass m(T) which is consistent with hydrodynamic model predictions for central collisions. The kaon and proton source sizes can be reasonably described by approximate m(T) scaling.
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10.
  • Abelev, B., et al. (författare)
  • Elliptic flow of identified hadrons in Pb-Pb collisions at root(NN)-N-s=2.76 Tev
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :6
  • Tidskriftsartikel (refereegranskat)abstract
    • The elliptic flow coefficient (v(2)) of identified particles in Pb-Pb collisions at root s(NN) = 2.76 TeV was measured with the ALICE detector at the Large Hadron Collider (LHC). The results were obtained with the Scalar Product method, a two-particle correlation technique, using a pseudo-rapidity gap of |Delta eta| > 0.9 between the identified hadron under study and the reference particles. The v (2) is reported for pi(+/-), K-+/-, K-S(0), p+(p) over bar, phi, Lambda+(Lambda) over bar, Xi+(Xi) over bar (+) and Omega(-)+(Omega) over bar (+) in several collision centralities. In the low transverse momentum (p(T)) region, p(T) < 3 GeV/c, v(2)(p(T)) exhibits a particle mass dependence consistent with elliptic flow accompanied by the transverse radial expansion of the system with a common velocity field. The experimental data for pi (+/-) and the combined K-+/- and K-S(0) results, are described fairly well by hydrodynamic calculations coupled to a hadronic cascade model (VISHNU) for central collisions. However, the same calculations fail to reproduce the v(2)(p(T)) for p+(p) over bar, phi, Lambda+(Lambda) over bar, Xi+(Xi) over bar (+). For transverse momentum values larger than about 3 GeV/c, particles tend to group according to their type, i.e. mesons and baryons. The present measurements exhibit deviations from the number of constituent quark (NCQ) scaling at the level of +/- 20% for p(T) > 3 GeV/c.
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11.
  • Abelev, B., et al. (författare)
  • Multiplicity dependence of jet-like two-particle correlation structures in p-Pb collisions at root s(NN)=5.02 TeV
  • 2015
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 741, s. 38-50
  • Tidskriftsartikel (refereegranskat)abstract
    • Two-particle angular correlations between unidentified charged trigger and associated particles are measured by the ALICE detector in p-Pb collisions at a nucleon-nucleon centre-of-mass energy of 5.02 TeV. The transverse-momentum range 0.7 < p(T),(assoc) < p(T),(trig) < 5.0 GeV/c is examined, to include correlations induced by jets originating from low momentum-transfer scatterings (minijets). The correlations expressed as associated yield per trigger particle are obtained in the pseudorapidity range vertical bar eta vertical bar < 0.9. The near-side long-range pseudorapidity correlations observed in high-multiplicity p-Pb collisions are subtracted from both near-side short-range and away-side correlations in order to remove the non-jet-like components. The yields in the jet-like peaks are found to be invariant with event multiplicity with the exception of events with low multiplicity. This invariance is consistent with the particles being produced via the incoherent fragmentation of multiple parton-parton scatterings, while the yield related to the previously observed ridge structures is not jet-related. The number of uncorrelated sources of particle production is found to increase linearly with multiplicity, suggesting no saturation of the number of multi-parton interactions even in the highest multiplicity p-Pb collisions. Further, the number scales only in the intermediate multiplicity region with the number of binary nucleon-nucleon collisions estimated with a Glauber Monte-Carlo simulation. (C) 2014 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/3.0/).
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12.
  • Adam, J., et al. (författare)
  • Centrality dependence of particle production in p-Pb collisions at root s(NN)=5.02 TeV
  • 2015
  • Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 91:6
  • Tidskriftsartikel (refereegranskat)abstract
    • We report measurements of the primary charged-particle pseudorapidity density and transverse momentum distributions in p-Pb collisions at root s(NN) = 5.02 TeV and investigate their correlation with experimental observables sensitive to the centrality of the collision. Centrality classes are defined by using different event-activity estimators, i.e., charged-particle multiplicities measured in three different pseudorapidity regions as well as the energy measured at beam rapidity (zero degree). The procedures to determine the centrality, quantified by the number of participants (N-part) or the number of nucleon-nucleon binary collisions (N-coll) are described. We show that, in contrast to Pb-Pb collisions, in p-Pb collisions large multiplicity fluctuations together with the small range of participants available generate a dynamical bias in centrality classes based on particle multiplicity. We propose to use the zero-degree energy, which we expect not to introduce a dynamical bias, as an alternative event-centrality estimator. Based on zero-degree energy-centrality classes, the N-part dependence of particle production is studied. Under the assumption that the multiplicity measured in the Pb-going rapidity region scales with the number of Pb participants, an approximate independence of the multiplicity per participating nucleon measured at mid-rapidity of the number of participating nucleons is observed. Furthermore, at high-pT the p-Pb spectra are found to be consistent with the pp spectra scaled by N-coll for all centrality classes. Our results represent valuable input for the study of the event-activity dependence of hard probes in p-Pb collisions and, hence, help to establish baselines for the interpretation of the Pb-Pb data.
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13.
  • Adam, J., et al. (författare)
  • Coherent psi (2S) photo-production in ultra-peripheral Pb-Pb collisions at root s(NN)=2.76TeV
  • 2015
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 751, s. 358-370
  • Tidskriftsartikel (refereegranskat)abstract
    • We have performed the first measurement of the coherent psi(2S) photo-production cross section in ultraperipheral Pb-Pb collisions at the LHC. This charmonium excited state is reconstructed via the psi(2S) -> l(+)l(-) and ->(2S) -> J/psi pi(+)pi(-) decays, where the J/psi decays into two leptons. The analysis is based on an event sample corresponding to an integrated luminosity of about 22 mu b(-1). The cross section for coherent psi(2S) production in the rapidity interval -0.9 < y < 0.9is d sigma(coh)(psi(2S))/dy = 0.83 +/- 0.19 (stat+syst) mb. The psi(2S) to J/psi coherent cross section ratio is 0.34(-0.07)(+0.08)(stat+syst). The obtained results are compared to predictions from theoretical models. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V.
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14.
  • Adam, J., et al. (författare)
  • Coherent rho(0) photoproduction in ultra-peripheral Pb-Pb collisions at root s(NN)=2.76 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :9
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the first measurement at the LHC of coherent photoproduction of rho(0) mesons in ultra-peripheral Pb-Pb collisions. The invariant mass and transverse momentum distributions for rho(0) production are studied in the pi(+)pi(-) decay channel at mid-rapidity. The production cross section in the rapidity range vertical bar y vertical bar < 0.5 is found to be d sigma/dy = 425 +/- 10 (stat.) (+42)(-50) (sys.) mb. Coherent rho(0) production is studied with and without requirement of nuclear breakup, and the fractional yields for various breakup scenarios are presented. The results are compared with those from lower energies and with model predictions.
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15.
  • Adam, J., et al. (författare)
  • Inclusive, prompt and non-prompt J/psi production at mid-rapidity in Pb-Pb collisions at root S-NN=2.76 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :7
  • Tidskriftsartikel (refereegranskat)abstract
    • The transverse momentum (p(T)) dependence of the nuclear modification factor R-AA and the centrality dependence of the average transverse momentum for inclusive J/psi have been measured with ALICE for Pb-Pb collisions at root S-NN = 2.76TeV in the e(+)e(-) decay channel at mid-rapidity (vertical bar y vertical bar < 0.8). The is significantly smaller than the one observed for pp collisions at the same centre-of-mass energy. Consistently, an increase of RAA is observed towards low p(T). These observations might be indicative of a sizable contribution of charm quark coalescence to the J/psi production. Additionally, the fraction of non-prompt J/psi from beauty hadron decays, f(B), has been determined in the region 1.5 < p(T) < 10 GeV/c in three centrality intervals. No significant centrality dependence of fB is observed. Finally, the RAA of non-prompt J/psi is discussed and compared with model predictions. The nuclear modification in the region 4.5 < p(T) < 10 GeV/c is found to be stronger than predicted by most models.
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16.
  • Adam, J., et al. (författare)
  • Measurement of charged jet production cross sections and nuclear modification in p-Pb collisions at root s(NN)=5.02 TeV
  • 2015
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 749, s. 68-81
  • Tidskriftsartikel (refereegranskat)abstract
    • Charged jet production cross sections in p-Pb collisions at root s(NN) = 5.02 TeV measured with the ALICE detector at the LHC are presented. Using the anti-k(T) algorithm, jets have been reconstructed in the central rapidity region from charged particles with resolution parameters R = 0.2 and R = 0.4. The reconstructed jets have been corrected for detector effects and the underlying event background. To calculate the nuclear modification factor, R-pPb, of charged jets in p-Pb collisions, a pp reference was constructed by scaling previously measured charged jet spectra at root s = 7 TeV. In the transverse momentum range 20 <= p(T, chjet) <= 120 GeV/c, R-pPb is found to be consistent with unity, indicating the absence of strong nuclear matter effects on jet production. Major modifications to the radial jet structure are probed via the ratio of jet production cross sections reconstructed with the two different resolution parameters. This ratio is found to be similar to the measurement in pp collisions at root s = 7 TeV and to the expectations from PYTHIA pp simulations and NLO pQCD calculations at root s(NN) = 5.02 TeV. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V.
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17.
  • Adam, J., et al. (författare)
  • Measurement of dijet k(T) in p-Pb collisions at root s(NN)=5.02 TeV
  • 2015
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 746, s. 385-395
  • Tidskriftsartikel (refereegranskat)abstract
    • A measurement of dijet correlations in p-Pb collisions at root s(NN) = 5.02 TeV with the ALICE detector is presented. Jets are reconstructed from charged particles measured in the central tracking detectors and neutral energy deposited in the electromagnetic calorimeter. The transverse momentum of the full jet (clustered from charged and neutral constituents) and charged jet (clustered from charged particles only) is corrected event-by-event for the contribution of the underlying event, while corrections for underlying event fluctuations and finite detector resolution are applied on an inclusive basis. A projection of the dijet transverse momentum, k(Ty) = p(T,jet)(ch+ne) sin(Delta phi(dijet)) with Delta phi(dijet) the azimuthal angle between a full and charged jet and p(T,jet)(ch+ne) the transverse momentum of the full jet, is used to study nuclear matter effects in p-Pb collisions. This observable is sensitive to the acoplanarity of dijet production and its potential modificationin p-Pb collisions with respect to pp collisions. Measurements of the dijet k(Ty) as a function of the transverse momentum of the full and recoil charged jet, and the event multiplicity are presented. No significant modification of k(Ty) due to nuclear matter effects in p-Pb collisions with respect to the event multiplicity or a PYTHIA8 reference is observed. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V.
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18.
  • Adam, J., et al. (författare)
  • Precision measurement of the mass difference between light nuclei and anti-nuclei
  • 2015
  • Ingår i: Nature Physics. - 1745-2473. ; 11:10, s. 120-811
  • Tidskriftsartikel (refereegranskat)abstract
    • The measurement of the mass differences for systems bound by the strong force has reached a very high precision with protons and anti-protons(1,2). The extension of such measurement from (anti-)baryons to (anti-) nuclei allows one to probe any difference in the interactions between nucleons and anti-nucleons encoded in the (anti-) nuclei masses. This force is a remnant of the underlying strong interaction among quarks and gluons and can be described by effective theories(3), but cannot yet be directly derived from quantum chromodynamics. Here we report a measurement of the difference between the ratios of the mass and charge of deuterons (d) and anti-deuterons ((d) over bar), and He-3 and (3)(He) over bar nuclei carried out with the ALICE (A Large Ion Collider Experiment)(4) detector in Pb-Pb collisions at a centre-of-mass energy per nucleon pair of 2.76 TeV. Our direct measurement of the mass-over-charge differences confirms CPT invariance to an unprecedented precision in the sector of light nuclei(5,6). This fundamental symmetry of nature, which exchanges particles with anti-particles, implies that all physics laws are the same under the simultaneous reversal of charge(s) (charge conjugation C), reflection of spatial coordinates (parity transformation P) and time inversion (T).
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19.
  • Adam, J., et al. (författare)
  • Rapidity and transverse-momentum dependence of the inclusive J/psi nuclear modification factor in p-Pb collisions at root s(NN)=5.02 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :6
  • Tidskriftsartikel (refereegranskat)abstract
    • We have studied the transverse-momentum (p(T)) dependence of the inclusive J/psi production in p-Pb collisions at root s(NN) = 5.02 TeV, in three center-of-mass rapidity (y(cms)) regions, down to zero p(T). Results in the forward and backward rapidity ranges (2.03 < y(cms) < 3.53 and -4.46 < y(cms) < -2.96) are obtained by studying the J/psi decay to mu(+)mu(-), while the mid-rapidity region (-1.37 < y(cms) < 0.43) is investigated by measuring the e(+)e(-) decay channel. The p(T) dependence of the J/psi production cross section and nuclear modification factor are presented for each of the rapidity intervals, as well as the J/psi mean p(T) values. Forward and mid-rapidity results show a suppression of the J/psi yield, with respect to pp collisions, which decreases with increasing p(T). At backward rapidity no significant J/psi suppression is observed. Theoretical models including a combination of cold nuclear matter effects such as shadowing and partonic energy loss, are in fair agreement with the data, except at forward rapidity and low transverse momentum. The implications of the p-Pb results for the evaluation of cold nuclear matter effects on J/psi production in Pb-Pb collisions are also discussed.
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20.
  • Abelev, B., et al. (författare)
  • Measurement of electrons from semileptonic heavy-flavor hadron decays in pp collisions at root s=2.76 TeV
  • 2015
  • Ingår i: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 91:1
  • Tidskriftsartikel (refereegranskat)abstract
    • The p(T)-differential production cross section of electrons from semileptonic decays of heavy-flavor hadrons has been measured at midrapidity in proton-proton collisions at root s = 2.76 TeV in the transverse momentum range 0.5 < p(T) < 12 GeV/c with the ALICE detector at the LHC. The analysis was performed using minimum bias events and events triggered by the electromagnetic calorimeter. Predictions from perturbative QCD calculations agree with the data within the theoretical and experimental uncertainties.
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21.
  • Adam, J., et al. (författare)
  • Forward-backward multiplicity correlations in pp collisions at root s=0.9, 2.76 and 7 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :5
  • Tidskriftsartikel (refereegranskat)abstract
    • The strength of forward-backward (FB) multiplicity correlations is measured by the ALICE detector in proton-proton (pp) collisions at = 0.9, 2.76 and 7 TeV. The measurement is performed in the central pseudorapidity region (|eta| < 0.8) for the transverse momentum p (T) > 0.3 GeV/c. Two separate pseudorapidity windows of width (delta eta) ranging from 0.2 to 0.8 are chosen symmetrically around eta = 0. The multiplicity correlation strength (b (corr)) is studied as a function of the pseudorapidity gap (eta (gap)) between the two windows as well as the width of these windows. The correlation strength is found to decrease with increasing eta (gap) and shows a non-linear increase with delta eta. A sizable increase of the correlation strength with the collision energy, which cannot be explained exclusively by the increase of the mean multiplicity inside the windows, is observed. The correlation coefficient is also measured for multiplicities in different configurations of two azimuthal sectors selected within the symmetric FB eta-windows. Two different contributions, the short-range (SR) and the long-range (LR), are observed. The energy dependence of b (corr) is found to be weak for the SR component while it is strong for the LR component. Moreover, the correlation coefficient is studied for particles belonging to various transverse momentum intervals chosen to have the same mean multiplicity. Both SR and LR contributions to b (corr) are found to increase with p (T) in this case. Results are compared to PYTHIA and PHOJET event generators and to a string-based phenomenological model. The observed dependencies of b (corr) add new constraints on phenomenological models.
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22.
  • Adam, J., et al. (författare)
  • Measurement of jet suppression in central Pb-Pb collisions at root s(NN)=2.76 TeV
  • 2015
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 746, s. 1-14
  • Tidskriftsartikel (refereegranskat)abstract
    • The transverse momentum(p(T)) spectrum and nuclear modification factor (R-AA) of reconstructed jets in 0-10% and 10-30% central Pb-Pb collisions at root s(NN) = 2.76 TeV were measured. Jets were reconstructed using the anti-k(T) jet algorithm with a resolution parameter of R = 0.2 from charged and neutral particles, utilizing the ALICE tracking detectors and Electromagnetic Calorimeter (EMCal). The jet p(T) spectra are reported in the pseudorapidity interval of \eta(jet)\ < 0.5 for 40 < p(T), jet < 120 GeV/c in 0-10% and for 30 < p(T), jet < 100 GeV/c in 10-30% collisions. Reconstructed jets were required to contain a leading charged particle with p(T) > 5 GeV/c to suppress jets constructed from the combinatorial background in Pb-Pb collisions. The leading charged particle requirement applied to jet spectra both in pp and Pb-Pb collisions had a negligible effect on the R-AA. The nuclear modification factor R-AA was found to be 0.28 +/- 0.04 in 0-10% and 0.35 +/- 0.04 in 10-30% collisions, independent of p(T), jet within the uncertainties of the measurement. The observed suppression is in fair agreement with expectations from two model calculations with different approaches to jet quenching. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V.
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23.
  • Adam, J, et al. (författare)
  • Measurement of pion, kaon and proton production in proton-proton collisions at [Formula: see text] TeV.
  • 2015
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 75:5
  • Tidskriftsartikel (refereegranskat)abstract
    • The measurement of primary [Formula: see text], [Formula: see text], [Formula: see text] and [Formula: see text] production at mid-rapidity ([Formula: see text] 0.5) in proton-proton collisions at [Formula: see text][Formula: see text] 7 TeV performed with a large ion collider experiment at the large hadron collider (LHC) is reported. Particle identification is performed using the specific ionisation energy-loss and time-of-flight information, the ring-imaging Cherenkov technique and the kink-topology identification of weak decays of charged kaons. Transverse momentum spectra are measured from 0.1 up to 3 GeV/[Formula: see text] for pions, from 0.2 up to 6 GeV/[Formula: see text] for kaons and from 0.3 up to 6 GeV/[Formula: see text] for protons. The measured spectra and particle ratios are compared with quantum chromodynamics-inspired models, tuned to reproduce also the earlier measurements performed at the LHC. Furthermore, the integrated particle yields and ratios as well as the average transverse momenta are compared with results at lower collision energies.
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24.
  • Abelev, B., et al. (författare)
  • K*(892)(0) and phi(1020) production in Pb-Pb collisions at root s(NN)=2.76 TeV
  • 2015
  • Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 91:2
  • Tidskriftsartikel (refereegranskat)abstract
    • The yields of the K*(892)(0) and phi(1020) resonances are measured in Pb-Pb collisions at root s(NN) = 2.76 TeV through their hadronic decays using the ALICE detector. The measurements are performed in multiple centrality intervals at mid-rapidity (vertical bar y vertical bar < 0.5) in the transverse-momentum ranges 0.3 < p(T) < 5 GeV/c for the K*(892)(0) and 0.5 < p(T) < 5 GeV/c for the phi(1020). The yields of K*(892)(0) are suppressed in central Pb-Pb collisions with respect to pp and peripheral Pb-Pb collisions (perhaps due to rescattering of its decay products in the hadronic medium), while the longer-lived phi(1020) meson is not suppressed. These particles are also used as probes to study the mechanisms of particle production. The shape of the pT distribution of the phi(1020) meson, but not its yield, is reproduced fairly well by hydrodynamic models for central Pb-Pb collisions. In central Pb-Pb collisions at low and intermediate p(T), the p/phi(1020) ratio is flat in p(T), while the p/pi and phi(1020)/pi ratios show a pronounced increase and have similar shapes to each other. These results indicate that the shapes of the p(T) distributions of these particles in central Pb-Pb collisions are determined predominantly by the particle masses and radial flow. Finally, phi(1020) production in Pb-Pb collisions is enhanced, with respect to the yield in pp collisions and the yield of charged pions, by an amount similar to the Lambda and Xi.
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25.
  • Adam, J., et al. (författare)
  • Measurement of charm and beauty production at central rapidity versus charged-particle multiplicity in proton-proton collisions at root s=7 TeV
  • 2015
  • Ingår i: Journal of High Energy Physics. - 1029-8479. ; :9
  • Tidskriftsartikel (refereegranskat)abstract
    • Prompt D meson and non-prompt J/psi yields are studied as a function of the multiplicity of charged particles produced in inelastic proton-proton collisions at a centre-of-mass energy of root s = 7 TeV. The results are reported as a ratio between yields in a given multiplicity interval normalised to the multiplicity-integrated ones (relative yields). They are shown as a function of the multiplicity of charged particles normalised to the average value for inelastic collisions (relative charged-particle multiplicity). D-0, D+ and D*+ mesons are measured in five p(T) intervals from 1 GeV/c to 20 GeV/c and for |y| < 0.5 via their hadronic decays. The D-meson relative yield is found to increase with increasing charged-particle multiplicity. For events with multiplicity six times higher than the average multiplicity of inelastic collisions, a yield enhancement of a factor about 15 relative to the multiplicity-integrated yield in inelastic collisions is observed. The yield enhancement is independent of transverse momentum within the uncertainties of the measurement. The D-0-meson relative yield is also measured as a function of the relative multiplicity at forward pseudo-rapidity. The non-prompt J/psi, i.e. the B hadron, contribution to the inclusive J/psi production is measured in the di-electron decay channel at central rapidity. It is evaluated for p(T) > 1.3 GeV/c and |y| < 0.9, and extrapolated to p(T) > 0. The fraction of non-prompt J/psi the inclusive J/psi yields shows no dependence on the charged-particle multiplicity at central rapidity. Charm and beauty hadron relative yields exhibit a similar increase with increasing charged-particle multiplicity. The measurements are compared to PYTHIA 8, EPOS 3 and percolation calculations.
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26.
  • Adam, J., et al. (författare)
  • Search for weakly decaying (Lambda n)over-bar and Lambda Lambda exotic bound states in central Pb-Pb collisions at root S-NN=2.76 TeV
  • 2016
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 752, s. 267-277
  • Tidskriftsartikel (refereegranskat)abstract
    • We present results of a search for two hypothetical strange dibaryon states, i.e. the H-dibaryon and the possible (Lambda n) over bar bound state. The search is performed with the ALICE detector in central (0-10%) Pb-Pb collisions at root S-NN = 2.76 TeV, by invariant mass analysis in the decay modes (Lambda n) over bar (d) over bar pi(+) and H-dibaryon -> Lambda p pi(-). No evidence for these bound states is observed. Upper limits are determined at 99% confidence level for a wide range of lifetimes and for the full range of branching ratios. The results are compared to thermal, coalescence and hybrid UrQMD model expectations, which describe correctly the production of other loosely bound states, like the deuteron and the hypertriton. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V.
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27.
  • Adam, J., et al. (författare)
  • Two-pion femtoscopy in p-Pb collisions at root(NN)-N-S=5.02 TeV
  • 2015
  • Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 91:3
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the results of the femtoscopic analysis of pairs of identical pions measured in p-Pb collisions at root(NN)-N-S = 5.02 TeV. Femtoscopic radii are determined as a function of event multiplicity and pair momentum in three spatial dimensions. As in the pp collision system, the analysis is complicated by the presence of sizable background correlation structures in addition to the femtoscopic signal. The radii increase with event multiplicity and decrease with pair transverse momentum. When taken at comparable multiplicity, the radii measured in p-Pb collisions, at high multiplicity and low pair transverse momentum, are 10%-20% higher than those observed in pp collisions but below those observed in A-A collisions. The results are compared to hydrodynamic predictions at large event multiplicity as well as discussed in the context of calculations based on gluon saturation.
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28.
  • Fitzmauric, C., et al. (författare)
  • Global, Regional, and National Cancer Incidence, Mortality, Years of Life Lost, Years Lived with Disability, and Disability-Adjusted Life-Years for 29 Cancer Groups, 1990 to 2017 : A Systematic Analysis for the Global Burden of Disease Study
  • 2019
  • Ingår i: JAMA Oncology. - : American Medical Association. - 2374-2437 .- 2374-2445. ; 5:12, s. 1749-1768
  • Tidskriftsartikel (refereegranskat)abstract
    • Importance: Cancer and other noncommunicable diseases (NCDs) are now widely recognized as a threat to global development. The latest United Nations high-level meeting on NCDs reaffirmed this observation and also highlighted the slow progress in meeting the 2011 Political Declaration on the Prevention and Control of Noncommunicable Diseases and the third Sustainable Development Goal. Lack of situational analyses, priority setting, and budgeting have been identified as major obstacles in achieving these goals. All of these have in common that they require information on the local cancer epidemiology. The Global Burden of Disease (GBD) study is uniquely poised to provide these crucial data.Objective: To describe cancer burden for 29 cancer groups in 195 countries from 1990 through 2017 to provide data needed for cancer control planning.Evidence Review: We used the GBD study estimation methods to describe cancer incidence, mortality, years lived with disability, years of life lost, and disability-adjusted life-years (DALYs). Results are presented at the national level as well as by Socio-demographic Index (SDI), a composite indicator of income, educational attainment, and total fertility rate. We also analyzed the influence of the epidemiological vs the demographic transition on cancer incidence.Findings: In 2017, there were 24.5 million incident cancer cases worldwide (16.8 million without nonmelanoma skin cancer [NMSC]) and 9.6 million cancer deaths. The majority of cancer DALYs came from years of life lost (97%), and only 3% came from years lived with disability. The odds of developing cancer were the lowest in the low SDI quintile (1 in 7) and the highest in the high SDI quintile (1 in 2) for both sexes. In 2017, the most common incident cancers in men were NMSC (4.3 million incident cases); tracheal, bronchus, and lung (TBL) cancer (1.5 million incident cases); and prostate cancer (1.3 million incident cases). The most common causes of cancer deaths and DALYs for men were TBL cancer (1.3 million deaths and 28.4 million DALYs), liver cancer (572000 deaths and 15.2 million DALYs), and stomach cancer (542000 deaths and 12.2 million DALYs). For women in 2017, the most common incident cancers were NMSC (3.3 million incident cases), breast cancer (1.9 million incident cases), and colorectal cancer (819000 incident cases). The leading causes of cancer deaths and DALYs for women were breast cancer (601000 deaths and 17.4 million DALYs), TBL cancer (596000 deaths and 12.6 million DALYs), and colorectal cancer (414000 deaths and 8.3 million DALYs).Conclusions and Relevance: The national epidemiological profiles of cancer burden in the GBD study show large heterogeneities, which are a reflection of different exposures to risk factors, economic settings, lifestyles, and access to care and screening. The GBD study can be used by policy makers and other stakeholders to develop and improve national and local cancer control in order to achieve the global targets and improve equity in cancer care. 
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29.
  • Waszak, S. M., et al. (författare)
  • Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort
  • 2018
  • Ingår i: Lancet Oncology. - : Elsevier BV. - 1470-2045. ; 19:6, s. 785-798
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines. Methods In this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED). Whole-genome sequences and exome sequences from blood and tumour samples were analysed for rare damaging germline mutations in cancer predisposition genes. DNA methylation profiling was done to determine consensus molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGroup3), and group 4 (MBGroup4). Medulloblastoma predisposition genes were predicted on the basis of rare variant burden tests against controls without a cancer diagnosis from the Exome Aggregation Consortium (ExAC). Previously defined somatic mutational signatures were used to further classify medulloblastoma genomes into two groups, a clock-like group (signatures 1 and 5) and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using previously established criteria. Progression-free survival and overall survival were modelled for patients with a genetic predisposition to medulloblastoma. Findings We included a total of 1022 patients with medulloblastoma from the retrospective cohorts (n=673) and the four prospective studies (n=349), from whom blood samples (n=1022) and tumour samples (n=800) were analysed for germline mutations in 110 cancer predisposition genes. In our rare variant burden analysis, we compared these against 53 105 sequenced controls from ExAC and identified APC, BRCA2, PALB2, PTCH1, SUFU, and TP53 as consensus medulloblastoma predisposition genes according to our rare variant burden analysis and estimated that germline mutations accounted for 6% of medulloblastoma diagnoses in the retrospective cohort. The prevalence of genetic predispositions differed between molecular subgroups in the retrospective cohort and was highest for patients in the MBSHH subgroup (20% in the retrospective cohort). These estimates were replicated in the prospective clinical cohort (germline mutations accounted for 5% of medulloblastoma diagnoses, with the highest prevalence [14%] in the MBSHH subgroup). Patients with germline APC mutations developed MBWNT and accounted for most (five [71%] of seven) cases of MBWNT that had no somatic CTNNB1 exon 3 mutations. Patients with germline mutations in SUFU and PTCH1 mostly developed infant MBSHH. Germline TP53 mutations presented only in childhood patients in the MBSHH subgroup and explained more than half (eight [57%] of 14) of all chromothripsis events in this subgroup. Germline mutations in PALB2 and BRCA2 were observed across the MBSHH, MBGroup3, and MBGroup4 molecular subgroups and were associated with mutational signatures typical of homologous recombination repair deficiency. In patients with a genetic predisposition to medulloblastoma, 5-year progression-free survival was 52% (95% CI 4069) and 5-year overall survival was 65% (95% CI 5281); these survival estimates differed significantly across patients with germline mutations in different medulloblastoma predisposition genes. Interpretation Genetic counselling and testing should be used as a standard-of-care procedure in patients with MBWNT and MBSHH because these patients have the highest prevalence of damaging germline mutations in known cancer predisposition genes. We propose criteria for routine genetic screening for patients with medulloblastoma based on clinical and molecular tumour characteristics. Copyright (c) 2018 The Author(s). Published by Elsevier Ltd.
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30.
  • Matejcic, M, et al. (författare)
  • Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry
  • 2019
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 382-
  • Tidskriftsartikel (refereegranskat)abstract
    • The original version of this Article contained an error in the spelling of the author Manuela Gago-Dominguez, which was incorrectly given as Manuela G. Dominguez. This has now been corrected in both the PDF and HTML versions of the Article.
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31.
  • Mola-Caminal, M., et al. (författare)
  • PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome A Genome-Wide Meta-Analysis
  • 2019
  • Ingår i: Circulation research. - : Ovid Technologies (Wolters Kluwer Health). - 0009-7330 .- 1524-4571. ; 124:1, s. 114-120
  • Tidskriftsartikel (refereegranskat)abstract
    • Rationale: Ischemic stroke is among the leading causes of adult disability. Part of the variability in functional outcome after stroke has been attributed to genetic factors but no locus has been consistently associated with stroke outcome. Objective: Our aim was to identify genetic loci influencing the recovery process using accurate phenotyping to produce the largest GWAS (genome-wide association study) in ischemic stroke recovery to date. Methods and Results: A 12-cohort, 2-phase (discovery-replication and joint) meta-analysis of GWAS included anterior-territory and previously independent ischemic stroke cases. Functional outcome was recorded using 3-month modified Rankin Scale. Analyses were adjusted for confounders such as discharge National Institutes of Health Stroke Scale. A gene-based burden test was performed. The discovery phase (n=1225) was followed by open (n=2482) and stringent joint-analyses (n=1791). Those cohorts with modified Rankin Scale recorded at time points other than 3-month or incomplete data on previous functional status were excluded in the stringent analyses. Novel variants in PATJ (Pals1-associated tight junction) gene were associated with worse functional outcome at 3-month after stroke. The top variant was rs76221407 (G allele, beta=0.40, P=1.70x10-9). Conclusions: Our results identify a set of common variants in PATJ gene associated with 3-month functional outcome at genome-wide significance level. Future studies should examine the role of PATJ in stroke recovery and consider stringent phenotyping to enrich the information captured to unveil additional stroke outcome loci.
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32.
  • Kupers, LK, et al. (författare)
  • Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight
  • 2019
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1893-
  • Tidskriftsartikel (refereegranskat)abstract
    • Birthweight is associated with health outcomes across the life course, DNA methylation may be an underlying mechanism. In this meta-analysis of epigenome-wide association studies of 8,825 neonates from 24 birth cohorts in the Pregnancy And Childhood Epigenetics Consortium, we find that DNA methylation in neonatal blood is associated with birthweight at 914 sites, with a difference in birthweight ranging from −183 to 178 grams per 10% increase in methylation (PBonferroni < 1.06 x 10−7). In additional analyses in 7,278 participants, <1.3% of birthweight-associated differential methylation is also observed in childhood and adolescence, but not adulthood. Birthweight-related CpGs overlap with some Bonferroni-significant CpGs that were previously reported to be related to maternal smoking (55/914, p = 6.12 x 10−74) and BMI in pregnancy (3/914, p = 1.13x10−3), but not with those related to folate levels in pregnancy. Whether the associations that we observe are causal or explained by confounding or fetal growth influencing DNA methylation (i.e. reverse causality) requires further research.
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33.
  • Luterbacher, J., et al. (författare)
  • European summer temperatures since Roman times
  • 2016
  • Ingår i: Environmental Research Letters. - : IOP Publishing. - 1748-9326. ; 11:2
  • Tidskriftsartikel (refereegranskat)abstract
    • The spatial context is criticalwhen assessing present-day climate anomalies, attributing them to potential forcings and making statements regarding their frequency and severity in a long-term perspective. Recent international initiatives have expanded the number of high-quality proxy-records and developed new statistical reconstruction methods. These advances allow more rigorous regional past temperature reconstructions and, in turn, the possibility of evaluating climate models on policy-relevant, spatiotemporal scales. Here we provide a new proxy-based, annually-resolved, spatial reconstruction of the European summer (June-August) temperature fields back to 755 CE based on Bayesian hierarchical modelling (BHM), together with estimates of the European mean temperature variation since 138 BCE based on BHM and composite-plus-scaling (CPS). Our reconstructions compare well with independent instrumental and proxy-based temperature estimates, but suggest a larger amplitude in summer temperature variability than previously reported. Both CPS and BHM reconstructions indicate that the mean 20th century European summer temperature was not significantly different from some earlier centuries, including the 1st, 2nd, 8th and 10th centuries CE. The 1st century (in BHM also the 10th century) may even have been slightly warmer than the 20th century, but the difference is not statistically significant. Comparing each 50 yr period with the 1951-2000 period reveals a similar pattern. Recent summers, however, have been unusually warm in the context of the last two millennia and there are no 30 yr periods in either reconstruction that exceed the mean average European summer temperature of the last 3 decades (1986-2015 CE). A comparison with an ensemble of climate model simulations suggests that the reconstructed European summer temperature variability over the period 850-2000 CE reflects changes in both internal variability and external forcing on multi-decadal time-scales. For pan-European temperatures we find slightly better agreement between the reconstruction and the model simulations with high-end estimates for total solar irradiance. Temperature differences between the medieval period, the recent period and the Little Ice Age are larger in the reconstructions than the simulations. This may indicate inflated variability of the reconstructions, a lack of sensitivity and processes to changes in external forcing on the simulated European climate and/or an underestimation of internal variability on centennial and longer time scales.
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39.
  • Kreins, AY, et al. (författare)
  • Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
  • 2015
  • Ingår i: The Journal of experimental medicine. - : Rockefeller University Press. - 1540-9538 .- 0022-1007. ; 212:10, s. 1641-1662
  • Tidskriftsartikel (refereegranskat)abstract
    • Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families and four different ethnic groups. These patients were homozygous for one of five null mutations, different from that seen in P1. They displayed mycobacterial and/or viral infections, but no HIES. All eight TYK2-deficient patients displayed impaired but not abolished cellular responses to (a) IL-12 and IFN-α/β, accounting for mycobacterial and viral infections, respectively; (b) IL-23, with normal proportions of circulating IL-17+ T cells, accounting for their apparent lack of mucocutaneous candidiasis; and (c) IL-10, with no overt clinical consequences, including a lack of inflammatory bowel disease. Cellular responses to IL-21, IL-27, IFN-γ, IL-28/29 (IFN-λ), and leukemia inhibitory factor (LIF) were normal. The leukocytes and fibroblasts of all seven newly identified TYK2-deficient patients, unlike those of P1, responded normally to IL-6, possibly accounting for the lack of HIES in these patients. The expression of exogenous wild-type TYK2 or the silencing of endogenous TYK2 did not rescue IL-6 hyporesponsiveness, suggesting that this phenotype was not a consequence of the TYK2 genotype. The core clinical phenotype of TYK2 deficiency is mycobacterial and/or viral infections, caused by impaired responses to IL-12 and IFN-α/β. Moreover, impaired IL-6 responses and HIES do not appear to be intrinsic features of TYK2 deficiency in humans.
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41.
  • Warrington, N M, et al. (författare)
  • Maternal and fetal genetic contribution to gestational weight gain.
  • 2018
  • Ingår i: International journal of obesity. - : Springer Science and Business Media LLC. - 1476-5497 .- 0307-0565. ; 42:4, s. 775-84
  • Tidskriftsartikel (refereegranskat)abstract
    • Clinical recommendations to limit gestational weight gain (GWG) imply high GWG is causally related to adverse outcomes in mother or offspring, but GWG is the sum of several inter-related complex phenotypes (maternal fat deposition and vascular expansion, placenta, amniotic fluid and fetal growth). Understanding the genetic contribution to GWG could help clarify the potential effect of its different components on maternal and offspring health. Here we explore the genetic contribution to total, early and late GWG.A genome-wide association study was used to identify maternal and fetal variants contributing to GWG in up to 10543 mothers and 16317 offspring of European origin, with replication in 10660 mothers and 7561 offspring. Additional analyses determined the proportion of variability in GWG from maternal and fetal common genetic variants and the overlap of established genome-wide significant variants for phenotypes relevant to GWG (for example, maternal body mass index (BMI) and glucose, birth weight).Approximately 20% of the variability in GWG was tagged by common maternal genetic variants, and the fetal genome made a surprisingly minor contribution to explain variation in GWG. Variants near the pregnancy-specific beta-1 glycoprotein 5 (PSG5) gene reached genome-wide significance (P=1.71 × 10-8) for total GWG in the offspring genome, but did not replicate. Some established variants associated with increased BMI, fasting glucose and type 2 diabetes were associated with lower early, and higher later GWG. Maternal variants related to higher systolic blood pressure were related to lower late GWG. Established maternal and fetal birth weight variants were largely unrelated to GWG.We found a modest contribution of maternal common variants to GWG and some overlap of maternal BMI, glucose and type 2 diabetes variants with GWG. These findings suggest that associations between GWG and later offspring/maternal outcomes may be due to the relationship of maternal BMI and diabetes with GWG.International Journal of Obesity advance online publication, 21 November 2017; doi:10.1038/ijo.2017.248.
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44.
  • Liu, Xueping, et al. (författare)
  • Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration.
  • 2019
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1
  • Tidskriftsartikel (refereegranskat)abstract
    • The duration of pregnancy is influenced by fetal and maternal genetic and non-genetic factors. Here we report a fetal genome-wide association meta-analysis of gestational duration, and early preterm, preterm, and postterm birth in 84,689 infants. One locus on chromosome 2q13 is associated with gestational duration; the association is replicated in 9,291 additional infants (combined P=3.96×10-14). Analysis of 15,588 mother-child pairs shows that the association is driven by fetal rather than maternal genotype. Functional experiments show that the lead SNP, rs7594852, alters the binding of the HIC1 transcriptional repressor. Genes at the locus include several interleukin 1 family members with roles in pro-inflammatory pathways that are central to the process of parturition. Further understanding of the underlying mechanisms will be of great public health importance, since giving birth either before or after the window of term gestation is associated with increased morbidity and mortality.
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48.
  • Raghavan, Maanasa, et al. (författare)
  • Genomic evidence for the Pleistocene and recent population history of Native Americans
  • 2015
  • Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 349:6250
  • Tidskriftsartikel (refereegranskat)abstract
    • Howand when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we found that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) and after no more than an 8000-year isolation period in Beringia. After their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 ka, one that is now dispersed across North and South America and the other restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative "Paleoamerican" relict populations, including the historical Mexican Pericues and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.
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49.
  • Sikdar, S, et al. (författare)
  • Comparison of smoking-related DNA methylation between newborns from prenatal exposure and adults from personal smoking
  • 2019
  • Ingår i: Epigenomics. - : Future Medicine Ltd. - 1750-192X .- 1750-1911. ; 11:13, s. 1487-1500
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim: Cigarette smoking influences DNA methylation genome wide, in newborns from pregnancy exposure and in adults from personal smoking. Whether a unique methylation signature exists for in utero exposure in newborns is unknown. Materials & methods: We separately meta-analyzed newborn blood DNA methylation (assessed using Illumina450k Beadchip), in relation to sustained maternal smoking during pregnancy (9 cohorts, 5648 newborns, 897 exposed) and adult blood methylation and personal smoking (16 cohorts, 15907 participants, 2433 current smokers). Results & conclusion: Comparing meta-analyses, we identified numerous signatures specific to newborns along with many shared between newborns and adults. Unique smoking-associated genes in newborns were enriched in xenobiotic metabolism pathways. Our findings may provide insights into specific health impacts of prenatal exposure on offspring.
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50.
  • Bustamante, Mariona, et al. (författare)
  • A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways.
  • 2016
  • Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 25:18, s. 4127-4142
  • Tidskriftsartikel (refereegranskat)abstract
    • More than a million childhood diarrhoeal episodes occur worldwide each year, and in developed countries a considerable part of them are caused by viral infections. In this study, we aimed to search for genetic variants associated with diarrhoeal disease in young children by meta-analyzing genome-wide association studies, and to elucidate plausible biological mechanisms. The study was conducted in the context of the Early Genetics and Lifecourse Epidemiology (EAGLE) consortium. Data about diarrhoeal disease in two time windows (around 1 year of age and around 2 years of age) was obtained via parental questionnaires, doctor interviews or medical records. Standard quality control and statistical tests were applied to the 1000 Genomes imputed genotypic data. The meta-analysis (N=5758) followed by replication (N=3784) identified a genome-wide significant association between rs8111874 and diarrhoea at age 1 year. Conditional analysis suggested that the causal variant could be rs601338 (W154X) in the FUT2 gene. Children with the A allele, which results in a truncated FUT2 protein, had lower risk of diarrhoea. FUT2 participates in the production of histo-blood group antigens and has previously been implicated in the susceptibility to infections, including Rotavirus and Norovirus Gene-set enrichment analysis suggested pathways related to the histo-blood group antigen production, and the regulation of ion transport and blood pressure. Among others, the gastrointestinal tract, and the immune and neuro-secretory systems were detected as relevant organs. In summary, this genome-wide association meta-analysis suggests the implication of the FUT2 gene in diarrhoeal disease in young children from the general population.
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