| 1. |
- Cordeddu, Viviana, et al.
(författare)
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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
- 2015
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Ingår i: Human Mutation. - : WILEY-BLACKWELL. - 1059-7794 .- 1098-1004. ; 36:11, s. 1080-1087
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Tidskriftsartikel (refereegranskat)abstract
- The RASopathies constitute a family of autosomal-dominant disorders whose major features include facial dysmorphism, cardiac defects, reduced postnatal growth, variable cognitive deficits, ectodermal and skeletal anomalies, and susceptibility to certain malignancies. Noonan syndrome (NS), the commonest RASopathy, is genetically heterogeneous and caused by functional dysregulation of signal transducers and regulatory proteins with roles in the RAS/extracellular signal-regulated kinase (ERK) signal transduction pathway. Mutations in known disease genes account for approximately 80% of affected individuals. Here, we report that missense mutations altering Son of Sevenless, Drosophila, homolog 2 (SOS2), which encodes a RAS guanine nucleotide exchange factor, occur in a small percentage of subjects with NS. Four missense mutations were identified in five unrelated sporadic cases and families transmitting NS. Disease-causing mutations affected three conserved residues located in the Dbl homology (DH) domain, of which two are directly involved in the intramolecular binding network maintaining SOS2 in its autoinhibited conformation. All mutations were found to promote enhanced signaling from RAS to ERK. Similar to NS-causing SOS1 mutations, the phenotype associated with SOS2 defects is characterized by normal development and growth, as well as marked ectodermal involvement. Unlike SOS1 mutations, however, those in SOS2 are restricted to the DH domain.
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| 2. |
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| 3. |
- Tinetti, G., et al.
(författare)
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A chemical survey of exoplanets with ARIEL
- 2018
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Ingår i: Experimental Astronomy. - : Springer Science and Business Media LLC. - 0922-6435 .- 1572-9508. ; 46:1, s. 135-209
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Tidskriftsartikel (refereegranskat)abstract
- Thousands of exoplanets have now been discovered with a huge range of masses, sizes and orbits: from rocky Earth-like planets to large gas giants grazing the surface of their host star. However, the essential nature of these exoplanets remains largely mysterious: there is no known, discernible pattern linking the presence, size, or orbital parameters of a planet to the nature of its parent star. We have little idea whether the chemistry of a planet is linked to its formation environment, or whether the type of host star drives the physics and chemistry of the planet’s birth, and evolution. ARIEL was conceived to observe a large number (~1000) of transiting planets for statistical understanding, including gas giants, Neptunes, super-Earths and Earth-size planets around a range of host star types using transit spectroscopy in the 1.25–7.8 μm spectral range and multiple narrow-band photometry in the optical. ARIEL will focus on warm and hot planets to take advantage of their well-mixed atmospheres which should show minimal condensation and sequestration of high-Z materials compared to their colder Solar System siblings. Said warm and hot atmospheres are expected to be more representative of the planetary bulk composition. Observations of these warm/hot exoplanets, and in particular of their elemental composition (especially C, O, N, S, Si), will allow the understanding of the early stages of planetary and atmospheric formation during the nebular phase and the following few million years. ARIEL will thus provide a representative picture of the chemical nature of the exoplanets and relate this directly to the type and chemical environment of the host star. ARIEL is designed as a dedicated survey mission for combined-light spectroscopy, capable of observing a large and well-defined planet sample within its 4-year mission lifetime. Transit, eclipse and phase-curve spectroscopy methods, whereby the signal from the star and planet are differentiated using knowledge of the planetary ephemerides, allow us to measure atmospheric signals from the planet at levels of 10–100 part per million (ppm) relative to the star and, given the bright nature of targets, also allows more sophisticated techniques, such as eclipse mapping, to give a deeper insight into the nature of the atmosphere. These types of observations require a stable payload and satellite platform with broad, instantaneous wavelength coverage to detect many molecular species, probe the thermal structure, identify clouds and monitor the stellar activity. The wavelength range proposed covers all the expected major atmospheric gases from e.g. H2O, CO2, CH4 NH3, HCN, H2S through to the more exotic metallic compounds, such as TiO, VO, and condensed species. Simulations of ARIEL performance in conducting exoplanet surveys have been performed – using conservative estimates of mission performance and a full model of all significant noise sources in the measurement – using a list of potential ARIEL targets that incorporates the latest available exoplanet statistics. The conclusion at the end of the Phase A study, is that ARIEL – in line with the stated mission objectives – will be able to observe about 1000 exoplanets depending on the details of the adopted survey strategy, thus confirming the feasibility of the main science objectives.
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| 4. |
- Abelev, B., et al.
(författare)
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Charged jet cross sections and properties in proton-proton collisions at root s=7 TeV
- 2015
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Ingår i: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 91:11
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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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| 5. |
- Abelev, B., et al.
(författare)
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Elliptic flow of identified hadrons in Pb-Pb collisions at root(NN)-N-s=2.76 Tev
- 2015
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Ingår i: Journal of High Energy Physics. - 1029-8479. ; :6
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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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| 6. |
- Abelev, B., et al.
(författare)
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Inclusive photon production at forward rapidities in proton-proton collisions at root s=0.9, 2.76 and 7 TeV
- 2015
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 75:4
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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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| 7. |
- Abelev, B., et al.
(författare)
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K*(892)(0) and phi(1020) production in Pb-Pb collisions at root s(NN)=2.76 TeV
- 2015
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 91:2
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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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| 8. |
- Abelev, B., et al.
(författare)
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Measurement of electrons from semileptonic heavy-flavor hadron decays in pp collisions at root s=2.76 TeV
- 2015
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Ingår i: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 91:1
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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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| 9. |
- Abelev, B., et al.
(författare)
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Multiplicity dependence of jet-like two-particle correlation structures in p-Pb collisions at root s(NN)=5.02 TeV
- 2015
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 741, s. 38-50
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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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| 10. |
- Abelev, B., et al.
(författare)
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Production of inclusive gamma(1S) and gamma(2S) in p-Pb collisions at, root S-NN=5.02 TeV
- 2015
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 740, s. 105-117
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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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