| 1. |
- Aad, G, et al.
(author)
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- 2015
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swepub:Mat__t
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| 2. |
- Zhou, XP, et al.
(author)
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Non-coding variability at the APOE locus contributes to the Alzheimer's risk
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 3310-
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Journal article (peer-reviewed)abstract
- Alzheimer’s disease (AD) is a leading cause of mortality in the elderly. While the coding change of APOE-ε4 is a key risk factor for late-onset AD and has been believed to be the only risk factor in the APOE locus, it does not fully explain the risk effect conferred by the locus. Here, we report the identification of AD causal variants in PVRL2 and APOC1 regions in proximity to APOE and define common risk haplotypes independent of APOE-ε4 coding change. These risk haplotypes are associated with changes of AD-related endophenotypes including cognitive performance, and altered expression of APOE and its nearby genes in the human brain and blood. High-throughput genome-wide chromosome conformation capture analysis further supports the roles of these risk haplotypes in modulating chromatin states and gene expression in the brain. Our findings provide compelling evidence for additional risk factors in the APOE locus that contribute to AD pathogenesis.
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| 3. |
- Fomalont, E. B., et al.
(author)
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THE 2014 ALMA LONG BASELINE CAMPAIGN: AN OVERVIEW
- 2015
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In: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8213 .- 2041-8205. ; 808:1
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Journal article (peer-reviewed)abstract
- A major goal of the Atacama Large Millimeter/submillimeter Array (ALMA) is to make accurate images with resolutions of tens of milliarcseconds, which at submillimeter (submm) wavelengths requires baselines up to similar to 15 km. To develop and test this capability, a Long Baseline Campaign (LBC) was carried out from 2014 September to late November, culminating in end-to-end observations, calibrations, and imaging of selected Science Verification (SV) targets. This paper presents an overview of the campaign and its main results, including an investigation of the short-term coherence properties and systematic phase errors over the long baselines at the ALMA site, a summary of the SV targets and observations, and recommendations for science observing strategies at long baselines. Deep ALMA images of the quasar 3C 138 at 97 and 241 GHz are also compared to VLA 43 GHz results, demonstrating an agreement at a level of a few percent. As a result of the extensive program of LBC testing, the highly successful SV imaging at long baselines achieved angular resolutions as fine as 19 mas at similar to 350 GHz. Observing with ALMA on baselines of up to 15 km is now possible, and opens up new parameter space for submm astronomy.
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| 4. |
- Ferreira, MA, et al.
(author)
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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1741-
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Journal article (peer-reviewed)abstract
- Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.
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| 5. |
- Marganiec, J, et al.
(author)
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Experimental study of the 15O(2p ,γ)17Ne cross section by Coulomb Dissociation for the rp process
- 2016
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In: Journal of Physics Conference Series. - : IOP Publishing. - 1742-6588 .- 1742-6596.
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Conference paper (peer-reviewed)abstract
- The time-reversed reaction 15O(2p,γ)17Ne has been studied by the Coulomb dissociation technique. Secondary 17Ne ion beams at 500 AMeV have been produced by fragmentation reactions of 20Ne in a beryllium production target and dissociated on a secondary Pb target. The incoming beam and the reaction products have been identified with the kinematically complete LAND-R3B experimental setup at GSI. The excitation energy prior to decay has been reconstructed by using the invariant-mass method. The preliminary differential and integral Coulomb Dissociation cross sections (σCoul) have been calculated, which provide a photoabsorption (σphoto) and a radiative capture cross section (σcap). Additionally, important information about the nuclear structure of the 17Ne nucleus will be obtained. The analysis is in progress.
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| 6. |
- Marganiec, J., et al.
(author)
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Coulomb and nuclear excitations of narrow resonances in 17Ne
- 2016
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In: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 759, s. 200-205
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Journal article (peer-reviewed)abstract
- New experimental data for dissociation of relativistic 17Ne projectiles incident on targets of lead, carbon, and polyethylene targets at GSI are presented. Special attention is paid to the excitation and decay of narrow resonant states in 17Ne. Distributions of internal energy in the O15+p+p three-body system have been determined together with angular and partial-energy correlations between the decay products in different energy regions. The analysis was done using existing experimental data on 17Ne and its mirror nucleus 17N. The isobaric multiplet mass equation is used for assignment of observed resonances and their spins and parities. A combination of data from the heavy and light targets yielded cross sections and transition probabilities for the Coulomb excitations of the narrow resonant states. The resulting transition probabilities provide information relevant for a better understanding of the 17Ne structure.
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| 7. |
- Marganiec, J., et al.
(author)
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Coulomb dissociation of P-27 at 500 MeV/u
- 2016
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In: Physical Review C - Nuclear Physics. - 2469-9985 .- 2469-9993. ; 93:4
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Journal article (peer-reviewed)abstract
- The proton-capture reaction Si-26(p,gamma)(27) P was studied via Coulomb dissociation (CD) of P-27 at an incident energy of about 500 MeV/u. The three lowest-lying resonances in P-27 have been populated and their resonance strengths have been measured. In addition, a nonresonant direct-capture component was clearly identified and its astrophysical S factor measured. The experimental results are compared to Monte Carlo simulations of the CD process using a semiclassical model. Our thermonuclear reaction rates show good agreement with the rates from a recent compilation. With respect to the nuclear structure of P-27 we have found evidence for a negative-parity intruder state at 2.88-MeV excitation energy.
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| 8. |
- Marganiec, J., et al.
(author)
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Experimental study of the O-15(2p, gamma) Ne-17 cross section by Coulomb Dissociation for the rp process
- 2016
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In: Journal of Physics: Conference Series. - : IOP Publishing. - 1742-6588 .- 1742-6596. ; 665:1
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Conference paper (peer-reviewed)abstract
- The time-reversed reaction O-15(2p, gamma) Ne-17 has been studied by the Coulomb dissociation technique. Secondary 17Ne ion beams at 500 AMeV have been produced by fragmentation reactions of Ne-20 in a beryllium production target and dissociated on a secondary Pb target. The incoming beam and the reaction products have been identified with the kinematically complete LAND-(RB)-B-3 experimental setup at GSI. The excitation energy prior to decay has been reconstructed by using the invariant-mass method. The preliminary differential and integral Coulomb Dissociation cross sections (sigma(Coul)) have been calculated, which provide a photoabsorption (sigma(photo)) and a radiative capture cross section (sigma(cap)). Additionally, important information about the nuclear structure of the Ne-17 nucleus will be obtained. The analysis is in progress.
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| 9. |
- Marganiec, J., et al.
(author)
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Studies of continuum states in (16) Ne using three-body correlation techniques
- 2015
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In: European Physical Journal A. - : Springer Science and Business Media LLC. - 1434-601X .- 1434-6001. ; 51:1, s. 1-9
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Journal article (peer-reviewed)abstract
- Two-proton decay of the unbound nucleus Ne-16 , produced in one-neutron knockout from a 500 MeV/u Ne-17 beam, has been studied at GSI. The ground state, at a resonance energy 1.388(15) MeV, ( MeV) above the O-14 +p+p threshold, and two narrow resonances at MeV and 7.57(6) MeV have been investigated. A comparison of the energy difference between the first excited 2(+) state and the 0(+) ground state in Ne-16 with its mirror nucleus C-16 reveals a small Thomas-Ehrman shift (TES) of keV. A trend of the TES for the T = 2 quintet is obtained by completing the known data with a prediction for F-16 obtained from an IMME analysis. The decay mechanisms of the observed three resonances were revealed from an analysis of the energy and angular correlations of the O-14 +p+p decay products. The ground state decay can be considered as a genuine three-body (democratic) mode and the excited states decay sequentially via states in the intermediate nucleus F-15 , the 3.22 MeV state predominantly via the F-15 ground-state resonance, while the 7.57 MeV state decays via the 5/2(+) resonance in F-15 at 2.8 MeV above the O-14 +p+p threshold. Further, from an analysis of angular correlations, the spin-parity of the 7.57 MeV state has been determined as and assigned as the third 2(+) state in Ne-16 based on a comparison with C-16.
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| 10. |
- Wamers, F., et al.
(author)
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Comparison of electromagnetic and nuclear dissociation of Ne-17
- 2018
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In: Physical Review C. - : AMER PHYSICAL SOC. - 2469-9985 .- 2469-9993. ; 97:3
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Journal article (peer-reviewed)abstract
- The Borromean drip-line nucleus Ne-17 has been suggested to possess a two-proton halo structure in its ground state. In the astrophysical rp-process, where the two-proton capture reaction O-15(2p,gamma) Ne-17 plays an important role, the calculated reaction rate differs by several orders of magnitude between different theoretical approaches. To add to the understanding of the Ne-17 structure we have studied nuclear and electromagnetic dissociation. A 500 MeV/u Ne-17 beam was directed toward lead, carbon, and polyethylene targets. Oxygen isotopes in the final state were measured in coincidence with one or two protons. Different reaction branches in the dissociation of Ne-17 were disentangled. The relative populations of s and d states in F-16 were determined for light and heavy targets. The differential cross section for electromagnetic dissociation (EMD) shows a continuous internal energy spectrum in the three-body system O-15 + 2p. The Ne-17 EMD data were compared to current theoretical models. None of them, however, yields satisfactory agreement with the experimental data presented here. These new data may facilitate future development of adequate models for description of the fragmentation process.
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