1. |
- Birney, Ewan, et al.
(författare)
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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 447:7146, s. 799-816
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Tidskriftsartikel (refereegranskat)abstract
- We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.
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2. |
- Aksyutina, Yu, et al.
(författare)
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Lithium isotopes beyond the drip line
- 2008
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693. ; 666:5, s. 430-434
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Tidskriftsartikel (refereegranskat)abstract
- The unbound isotopes 10Li, 12Li and 13Li have been observed after nucleon-knockout reactions at relativistic energies with 11Li and 14Be beams impinging on a liquid hydrogen target. The channels , and were analysed in the ALADIN-LAND setup at GSI. The 10Li data confirm earlier findings, while the 12Li and 13Li nuclei were observed for the first time. The relative-energy spectrum shows that the ground state of 12Li can be described as a virtual s-state with a scattering length of -13.7(1.6) fm. A broad energy spectrum was found for the channel. Based on the assumption that the relative-energy spectrum is dominated by a correlated background presumably stemming from initial correlations in the 14Be ground-state, evidence for a 13Li resonance at 1.47(31) MeV above the threshold with a width around 2 MeV has been found.
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3. |
- Aksyutina, Yuliya, 1983, et al.
(författare)
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Properties of the 7He ground state from 8He neutron knockout
- 2009
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693. ; 679:3, s. 191-196
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Tidskriftsartikel (refereegranskat)abstract
- The unbound nucleus 7He, produced in neutron-knockout reactions with a 240 MeV/u 8He beam in a liquid-hydrogen target, has been studied in an experiment at the ALADIN-LAND setup at GSI. From an R-matrix analysis the resonance parameters for 7He as well as the spectroscopic factor for the 6He(0+) + n configuration in its ground-state have been obtained. The spectroscopic factor is 0.61 confirming that 7He is not a pure single-particle state. An analysis of 5He data from neutron-knockout reactions of 6He in a carbon target reveals the presence of an s-wave component at low energies in the α+n relative energy spectrum. A possible low-lying exited state in 7He observed in neutron knockout data from 8He in a carbon target and tentatively interpreted as a Iπ=1/2− state, could not be observed in the present experiment. Possible explanations of the shape difference between the 7He resonance obtained in the two knockout reactions are discussed in terms of target-dependence or different reaction mechanisms at relativistic energies.
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4. |
- Chulkov, L. V., et al.
(författare)
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Three-body correlations in electromagnetic dissociation of Borromean nuclei: The He-6 case
- 2005
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Ingår i: Nuclear Physics A. - : Elsevier BV. - 0375-9474. ; 759:1-2, s. 23-42
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Tidskriftsartikel (refereegranskat)abstract
- Dissociation of He-6 on a lead target has been studied at 240 MeV/u. The four-momenta of the two neutrons in coincidence with alpha-particles have been measured and used to reconstruct the three-body energy and angular correlations in the final state. For the first time, three-body correlations were included in the analysis of the He-6 dissociation data, and compared with calculations assuming a dipole mode for the electromagnetic dissociation. In addition, the experimental data have been analyzed using a series expansion of the final transition amplitude into hyperspherical functions, showing the importance of both nn and alpha n final-state interactions. It is shown that the dissociation process is governed by a transition of one neutron from the p-shell in the 6He ground state to the s-shell in the continuum further indicating that the role of the transition through an intermediate He-5(3/2(-)) state is more important than expected. (c) 2005 Elsevier B.V. All rights reserved.
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5. |
- Simon, H., et al.
(författare)
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Systematic investigation of the drip-line nuclei 11Li and 14Be and their unbound subsystems 10Li and 13Be
- 2007
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Ingår i: Nuclear Physics A. - : Elsevier BV. - 0375-9474. ; 791:3-4, s. 267-
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Tidskriftsartikel (refereegranskat)abstract
- Fragmentation reactions in a carbon target with beams of 11Li and 14Be at relativistic energies have been studied in a kinematically complete experiment at the ALADIN-LAND setup at GSI. Excited states in 11Li and 14Be were obtained from the data in the inelastic channel. The measured cross sections with the core nucleus in the final state show that in the 14Be case core polarization plays an important role. In the one-neutron knockout channels the measured angular correlations between fragment and neutron are asymmetric, which demonstrates the presence of states with different parities in the 11Li and 14Be ground states. For 10Li a low-lying virtual s-state, a p-state and evidence for a d-state could be extracted from the data, while the 12Be+n system shows resonances with more complicated structure.
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6. |
- Grigorenko, L. V., et al.
(författare)
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Complete correlation studies of two-proton decays: Be-6 and Fe-45
- 2009
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Ingår i: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 677:1-2, s. 30-35
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Tidskriftsartikel (refereegranskat)abstract
- The complete three-body correlation pictures are experimentally reconstructed for the two-proton decays of the Be-6 and (45)e ground states. We are able to see qualitative similarities and differences between these decays. They demonstrate very good agreement with the predictions of a theoretical three-body cluster model. Validity of the theoretical methods for treatment of the three-body Coulombic decays of this class is thus established by the broad range of lifetimes and nuclear masses spanned by these cases. Implementations for decay dynamics and nuclear structure of 2p emitters are discussed. (C) 2009 Elsevier B.V. All rights reserved.
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7. |
- Alexander, John H., et al.
(författare)
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Apixaban, an oral, direct, selective factor Xa inhibitor, in combination with antiplatelet therapy after acute coronary syndrome : results of the Apixaban for Prevention of Acute Ischemic and Safety Events (APPRAISE) trial
- 2009
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Ingår i: Circulation. - 0009-7322 .- 1524-4539. ; 119:22, s. 2877-2885
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: After an acute coronary syndrome, patients remain at risk of recurrent events. Apixaban, an oral direct factor Xa inhibitor, is a novel anticoagulant that may reduce these events but also poses a risk of bleeding. METHODS AND RESULTS: Apixaban for Prevention of Acute Ischemic and Safety Events (APPRAISE) was a phase 2, double-blind, placebo-controlled, dose-ranging study. Patients (n=1715) with recent ST-elevation or non-ST-elevation acute coronary syndrome were randomized to 6 months of placebo (n=611) or 1 of 4 doses of apixaban: 2.5 mg twice daily (n=317), 10 mg once daily (n=318), 10 mg twice daily (n=248), or 20 mg once daily (n=221). Nearly all patients received aspirin; 76% received clopidogrel. The primary outcome was International Society of Thrombosis and Hemostasis major or clinically relevant nonmajor bleeding. A secondary outcome was cardiovascular death, myocardial infarction, severe recurrent ischemia, or ischemic stroke. At the recommendation of the Data Monitoring Committee, the 2 higher-dose apixaban arms were discontinued because of excess total bleeding. Compared with placebo, apixaban 2.5 mg twice daily (hazard ratio, 1.78; 95% confidence interval, 0.91 to 3.48; P=0.09) and 10 mg once daily (hazard ratio, 2.45; 95% confidence interval, 1.31 to 4.61; P=0.005) resulted in a dose-dependent increase in major or clinically relevant nonmajor bleeding. Apixaban 2.5 mg twice daily (hazard ratio, 0.73; 95% confidence interval, 0.44 to 1.19; P=0.21) and 10 mg once daily (hazard ratio, 0.61; 95% confidence interval, 0.35 to 1.04; P=0.07) resulted in lower rates of ischemic events compared with placebo. The increase in bleeding was more pronounced and the reduction in ischemic events was less evident in patients taking aspirin plus clopidogrel than in those taking aspirin alone. CONCLUSIONS: We observed a dose-related increase in bleeding and a trend toward a reduction in ischemic events with the addition of apixaban to antiplatelet therapy in patients with recent acute coronary syndrome. The safety and efficacy of apixaban may vary depending on background antiplatelet therapy. Further testing of apixaban in patients at risk of recurrent ischemic events is warranted.
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8. |
- Descartes, Maria, et al.
(författare)
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Distal 22q11.2 microduplication encompassing the BCR gene
- 2008
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Ingår i: American journal of medical genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 146A:23, s. 3075-3081
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Tidskriftsartikel (refereegranskat)abstract
- Chromosome 22 band q11.2 has been recognized to be highly susceptible to subtle microdeletions and microduplications, which have been attributed to the presence of several large segmental duplications; also known as low copy repeats (LCRs). These LCRs function as mediators of non-allelic homologous recombination (NAHR), which results in these chromosomal rearrangements as a result of unequal crossover. The four centromeric LCRs at proximal 22q11.2 have been previously implicated in recurrent chromosomal rearrangements including the DiGeorge/Velocardiofacial syndrome (DG/VCFs) microdeletion and its reciprocal microduplication. Recently, we and others have demonstrated that the four telomeric LCRs at distal 22q11.2 are causally implicated in a newly recognized recurrent distal 22q11.2 microdeletion syndrome in the region immediately telomeric to the DG/VCFs typically deleted region. Here we report on the clinical, cytogenetic, and array CGH studies of a 4.5-year-old girl with history of failure to thrive, developmental delay (DD), and relative macrocephaly. She carries a paternally inherited approximately 2.1 Mb microduplication at distal 22q11.2, which spans approximately 34 annotated genes, and is flanked by two of the four telomeric 22q11.2 LCRs. We conclude that the four telomeric LCRs at distal 22q11.2 can mediate both deletions and duplications in this genomic region. Both deletions and duplication of this region present with subtle clinical features including mild to moderate mental retardation, DD, and mild dysmorphic features.
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9. |
- Grigorenko, L. V., et al.
(författare)
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Three-body decay of Be-6
- 2009
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Ingår i: Physical Review C - Nuclear Physics. - 2469-9985 .- 2469-9993. ; 80:3
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Tidskriftsartikel (refereegranskat)abstract
- Three-body correlations for the ground-state decay of the lightest two-proton emitter Be-6 are studied both theoretically and experimentally. Theoretical studies are performed in a three-body hyperspherical-harmonics cluster model. In the experimental studies, the ground state of Be-6 was formed following the alpha decay of a C-10 beam inelastically excited through interactions with Be and C targets. Excellent agreement between theory and experiment is obtained demonstrating the existence of complicated correlation patterns that can elucidate the structure of Be-6 and, possibly, of the A = 6 isobars.
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10. |
- Guineva, V, et al.
(författare)
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Lyman-alpha Detector Designed for Rocket Measurements of the Direct Solar Radiation at 121.5 nm
- 2007
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Ingår i: Bulgarian Journal of Physics. - 1310-0157 .- 1314-2666. ; 34:2, s. 116-127
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Tidskriftsartikel (refereegranskat)abstract
- Rocket measurements of the direct Lyman-alpha radiation penetrating in the atmosphere were planned during the HotPay I rocket experiment, June 2006, Project ASLAF (Attenuation of the Solar Lyman-Alpha Flux), Andøya Rocket Range (ARR), Norway. The basic goal of ASLAF project was the study of the processes in the summer mesosphere and thermosphere (up to 110 km), at high latitudes using the Lyman-alpha measurements. The resonance transition 2P-2S of the atomic hydrogen (Lyman-alpha emission) is the strongest and most conspicuous feature in the solar EUV spectrum. Due to the favorable circumstance, that the Lyman-alpha wavelength (121.5 nm) coincides with a minimum of the O2 absorption spectrum, the direct Lyman-alpha radiation penetrates well in the mesosphere. The Lyman-alpha radiation is the basic agent of the NO molecules ionization, thus generating the ionospheric D-layer, and of the water vapour photolysis, being one of the main H2O loss processes. The Lyman-alpha radiation transfer depends on the resonance scattering from the hydrogen atoms in the atmosphere and on the O2 absorption. Since the Lyman-alpha extinction in the atmosphere is a measure for the column density of the oxygen molecules, the atmospheric temperature profile can be calculated thereof. The detector of solar Lyman-alpha radiation was manufactured in the Stara Zagora Department of the Solar-Terrestrial Influences Laboratory (STIL). Its basic part is an ionization chamber, filled in with NO. A 60 V power supply is applied to the chamber. The produced photoelectric current from the sensor is fed to a 2-channels amplifier, providing an analog signal. The characteristics of the Lyman-alpha detector were studied. It passed successfully all tests and the results showed that the instrument could be used in rocket experiments to measure the Lyman-alpha flux. From the measurements of the detector, the Lyman-alpha vertical profile can be obtained. The forthcoming scientific data analysis will include radiative transfer simulations, O2 density, atmospheric power and temperature profiles retrieval as well as comparison with other parameters, measured near the polar summer mesopause and study of the processes in this region.
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