422 research outputs found

    Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

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    International audienceCorpus callosum (CC) is the major brain commissure connecting homologous areas of cerebral hemispheres. CC anomalies (CCAs) are the most frequent brain anomalies leading to variable neurodevelopmental outcomes making genetic counseling difficult in the absence of a known etiology that might inform the prognosis. Here, we used whole exome sequencing, and a targeted capture panel of syndromic CCA known causal and candidate genes to screen a cohort of 64 fetuses with CCA observed upon autopsy, and 34 children with CCA and intellectual disability. In one fetus and two patients, we identified three novel de novo mutations in ZBTB20, which was previously shown to be causal in Primrose syndrome. In addition to CCA, all cases presented with additional features of Primrose syndrome including facial dysmorphism and macrocephaly or megalencephaly. All three variations occurred within two out of the five zinc finger domains of the transcriptional repressor ZBTB20. Through homology modeling, these variants are predicted to result in local destabilization of each zinc finger domain suggesting subsequent abnormal repression of ZBTB20 target genes. Neurohistopathological analysis of the fetal case showed abnormal regionalization of the hippocampal formation as well as a reduced density of cortical upper layers where originate most callosal projections. Here, we report novel de novo ZBTB20 mutations in three independent cases with characteristic features of Primrose syndrome including constant CCA. Neurohistopathological findings in fetal case corroborate the observed key role of ZBTB20 during hippocampal and neocortical development. Finally, this study highlights the crucial role of ZBTB20 in CC development in human

    Multiplicity dependence of light (anti-)nuclei production in p–Pb collisions at sNN=5.02 TeV

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    The measurement of the deuteron and anti-deuteron production in the rapidity range −1 < y < 0 as a function of transverse momentum and event multiplicity in p–Pb collisions at √sNN = 5.02 TeV is presented. (Anti-)deuterons are identified via their specific energy loss dE/dx and via their time-of- flight. Their production in p–Pb collisions is compared to pp and Pb–Pb collisions and is discussed within the context of thermal and coalescence models. The ratio of integrated yields of deuterons to protons (d/p) shows a significant increase as a function of the charged-particle multiplicity of the event starting from values similar to those observed in pp collisions at low multiplicities and approaching those observed in Pb–Pb collisions at high multiplicities. The mean transverse particle momenta are extracted from the deuteron spectra and the values are similar to those obtained for p and particles. Thus, deuteron spectra do not follow mass ordering. This behaviour is in contrast to the trend observed for non-composite particles in p–Pb collisions. In addition, the production of the rare 3He and 3He nuclei has been studied. The spectrum corresponding to all non-single diffractive p-Pb collisions is obtained in the rapidity window −1 < y < 0 and the pT-integrated yield dN/dy is extracted. It is found that the yields of protons, deuterons, and 3He, normalised by the spin degeneracy factor, follow an exponential decrease with mass number

    Pseudorapidity densities of charged particles with transverse momentum thresholds in pp collisions at √ s = 5.02 and 13 TeV

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    The pseudorapidity density of charged particles with minimum transverse momentum (pT) thresholds of 0.15, 0.5, 1, and 2 GeV/c is measured in pp collisions at the center of mass energies of √s=5.02 and 13 TeV with the ALICE detector. The study is carried out for inelastic collisions with at least one primary charged particle having a pseudorapidity (η) within 0.8pT larger than the corresponding threshold. In addition, measurements without pT-thresholds are performed for inelastic and nonsingle-diffractive events as well as for inelastic events with at least one charged particle having |η|2GeV/c), highlighting the importance of such measurements for tuning event generators. The new measurements agree within uncertainties with results from the ATLAS and CMS experiments obtained at √s=13TeV.

    Neutron emission in ultraperipheral Pb-Pb collisions at sNN\sqrt {s_{NN}} = 5.02 TeV

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    In ultraperipheral collisions (UPCs) of relativistic nuclei without overlap of nuclear densities, the two nuclei are excited by the Lorentz-contracted Coulomb fields of their collision partners. In these UPCs, the typical nuclear excitation energy is below a few tens of MeV, and a small number of nucleons are emitted in electromagnetic dissociation (EMD) of primary nuclei, in contrast to complete nuclear fragmentation in hadronic interactions. The cross sections of emission of given numbers of neutrons in UPCs of 208^{208}Pb nuclei at sNN=5.02\sqrt{s_{\mathrm{NN}}}=5.02~TeV were measured with the neutron zero degree calorimeters (ZDCs) of the ALICE detector at the LHC, exploiting a similar technique to that used in previous studies performed at sNN=2.76\sqrt{s_{\mathrm{NN}}}=2.76~TeV. In addition, the cross sections for the exclusive emission of 1, 2, 3, 4 and 5 forward neutrons in the EMD, not accompanied by the emission of forward protons, and thus mostly corresponding to the production of 207,206,205,204,203^{207,206,205,204,203}Pb, respectively, were measured for the first time. The predictions from the available models describe the measured cross sections well. These cross sections can be used for evaluating the impact of secondary nuclei on the LHC components, in particular, on superconducting magnets, and also provide useful input for the design of the Future Circular Collider (FCC-hh).In ultraperipheral collisions (UPCs) of relativistic nuclei without overlap of nuclear densities, the two nuclei are excited by the Lorentz-contracted Coulomb fields of their collision partners. In these UPCs, the typical nuclear excitation energy is below a few tens of MeV, and a small number of nucleons are emitted in electromagnetic dissociation (EMD) of primary nuclei, in contrast to complete nuclear fragmentation in hadronic interactions. The cross sections of emission of given numbers of neutrons in UPCs of Pb208 nuclei at sNN=5.02 TeV were measured with the neutron zero degree calorimeters (ZDCs) of the ALICE detector at the LHC, exploiting a similar technique to that used in previous studies performed at sNN=2.76 TeV. In addition, the cross sections for the exclusive emission of one, two, three, four, and five forward neutrons in the EMD, not accompanied by the emission of forward protons, and thus mostly corresponding to the production of Pb207,206,205,204,203, respectively, were measured for the first time. The predictions from the available models describe the measured cross sections well. These cross sections can be used for evaluating the impact of secondary nuclei on the LHC components, in particular, on superconducting magnets, and also provide useful input for the design of the Future Circular Collider (FCC-hh).In ultraperipheral collisions (UPCs) of relativistic nuclei without overlap of nuclear densities, the two nuclei are excited by the Lorentz-contracted Coulomb fields of their collision partners. In these UPCs, the typical nuclear excitation energy is below a few tens of MeV, and a small number of nucleons are emitted in electromagnetic dissociation (EMD) of primary nuclei, in contrast to complete nuclear fragmentation in hadronic interactions. The cross sections of emission of given numbers of neutrons in UPCs of 208^{208}Pb nuclei at sNN=5.02\sqrt{s_{\mathrm{NN}}}=5.02 TeV were measured with the neutron zero degree calorimeters (ZDCs) of the ALICE detector at the LHC, exploiting a similar technique to that used in previous studies performed at sNN=2.76\sqrt{s_{\mathrm{NN}}}=2.76 TeV. In addition, the cross sections for the exclusive emission of one, two, three, four, and five forward neutrons in the EMD, not accompanied by the emission of forward protons, and thus mostly corresponding to the production of 207,206,205,204,203^{207,206,205,204,203}Pb, respectively, were measured for the first time. The predictions from the available models describe the measured cross sections well. These cross sections can be used for evaluating the impact of secondary nuclei on the LHC components, in particular, on superconducting magnets, and also provide useful input for the design of the Future Circular Collider (FCC-hh)

    Enhanced deuteron coalescence probability in jets

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    The transverse-momentum (pT) spectra and coalescence parameters B2 of (anti)deuterons are measured in pp collisions at s√=13 TeV for the first time in and out of jets. In this measurement, the direction of the leading particle with the highest pT in the event (pleadT>5 GeV/c) is used as an approximation for the jet axis. The event is consequently divided into three azimuthal regions and the jet signal is obtained as the difference between the Toward region, that contains jet fragmentation products in addition to the underlying event (UE), and the Transverse region, which is dominated by the UE. The coalescence parameter in the jet is found to be approximately a factor of 10 larger than that in the underlying event. This experimental observation is consistent with the coalescence picture and can be attributed to the smaller average phase-space distance between nucleons inside the jet cone as compared to the underlying event. The results presented in this Letter are compared to predictions from a simple nucleon coalescence model, where the phase space distributions of nucleons are generated using PYTHIA 8 with the Monash 2013 tuning, and to predictions from a deuteron production model based on ordinary nuclear reactions with parametrized energy-dependent cross sections tuned on data. The latter model is implemented in PYTHIA 8.3. Both models reproduce the observed large difference between in-jet and out-of-jet coalescence parameters, although the almost flat trend of the BJet2 is not reproduced by the models, which instead give a decreasing trend

    Azimuthal correlations of heavy-flavor hadron decay electrons with charged particles in pp and p–Pb collisions at sNN\pmb {\sqrt{s_{\mathrm{{NN}}}}} = 5.02 TeV

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    Inclusive quarkonium production in pp collisions at s=5.02\sqrt{s} = 5.02 TeV

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    This article reports on the inclusive production cross section of several quarkonium states, J/ψ\mathrm{J}/\psi, ψ(2S)\psi {\rm (2S)}, Υ(1S)\Upsilon\rm(1S), Υ(2S)\Upsilon\rm(2S), and Υ(3S)\Upsilon\rm(3S), measured with the ALICE detector at the LHC, in \pp collisions at s=5.02\sqrt{s} = 5.02 TeV. The analysis is performed in the dimuon decay channel at forward rapidity (2.5<y<42.5 < y < 4). The measured cross sections, assuming unpolarized quarkonia, are: σJ/ψ=5.88±0.03±0.34 μ\sigma_{\mathrm{J}/\psi} = 5.88 \pm 0.03 \pm 0.34\ \mub, σψ(2S)=0.87±0.06±0.10 μ\sigma_{\psi {\rm (2S)}} = 0.87 \pm 0.06 \pm 0.10\ \mub, σΥ(1S)=45.5±3.9±3.5\sigma_{\Upsilon\rm(1S)} = 45.5 \pm 3.9 \pm 3.5 nb, σΥ(2S)=22.4±3.2±2.7\sigma_{\Upsilon\rm(2S)} = 22.4 \pm 3.2 \pm 2.7 nb, and σΥ(3S)=4.9±2.2±1.0\sigma_{\Upsilon\rm(3S)} = 4.9 \pm 2.2 \pm 1.0 nb, where the first (second) uncertainty is the statistical (systematic) one. The transverse-momentum (pTp_{\rm T}) and rapidity (yy) differential cross sections for J/ψ\mathrm{J}/\psi, ψ(2S)\psi {\rm (2S)}, Υ(1S)\Upsilon\rm(1S), and the ψ(2S)\psi {\rm (2S)}-to-J/ψ\mathrm{J}/\psi cross section ratios are presented. For the first time, the cross sections of the three Υ\Upsilon states, as well as the ψ(2S)\psi {\rm (2S)} one as a function of pTp_{\rm T} and yy, are measured at s=5.02\sqrt{s} = 5.02 TeV at forward rapidity. These measurements also significantly extend the J/ψ\mathrm{J}/\psipTp_{\rm T} reach with respect to previously published results. A comparison with ALICE measurements in pp collisions at s=2.76\sqrt{s} = 2.76, 7, 8, and 13 TeV is presented and the energy dependence of quarkonium production cross sections is discussed. Finally, the results are compared with the predictions from several production models
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