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- 2017
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Ingår i: Physical Review D. - 2470-0010 .- 2470-0029. ; 96:2
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Tidskriftsartikel (refereegranskat)
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| 3. |
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| 5. |
- Ramdas, S., et al.
(författare)
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A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
- 2022
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 109:8, s. 1366-1387
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Tidskriftsartikel (refereegranskat)abstract
- A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover regulatory mechanisms underlying lipid associations. We first prioritize lipid-associated genes with expression quantitative trait locus (eQTL) colocalizations and then add chromatin interaction data to narrow the search for functional genes. Polygenic enrichment analysis across 697 annotations from a host of tissues and cell types confirms the central role of the liver in lipid levels and highlights the selective enrichment of adipose-specific chromatin marks in high-density lipoprotein cholesterol and triglycerides. Overlapping transcription factor (TF) binding sites with lipid-associated loci identifies TFs relevant in lipid biology. In addition, we present an integrative framework to prioritize causal variants at GWAS loci, producing a comprehensive list of candidate causal genes and variants with multiple layers of functional evidence. We highlight two of the prioritized genes, CREBRF and RRBP1, which show convergent evidence across functional datasets supporting their roles in lipid biology.
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| 11. |
- Vogt, A., et al.
(författare)
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Isomers and high-spin structures in the N=81 isotones Xe-135 and Ba-137
- 2017
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Ingår i: PHYSICAL REVIEW C. - : AMER PHYSICAL SOC. - 2469-9985. ; 95:2
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Tidskriftsartikel (refereegranskat)abstract
- The high-spin structures and isomers of the N = 81 isotones Xe-135 and Ba-137 are investigated after multinucleon-transfer (MNT) and fusion-evaporation reactions. Both nuclei are populated (i) in Xe-136+ U-238 and (ii) Xe-136+ Pb-208 MNT reactions employing the high-resolution Advanced Gamma Tracking Array (AGATA) coupled to the magnetic spectrometer PRISMA, (iii) in the Xe-136+ Pt-198 MNT reaction employing the gamma-ray array GAMMASPHERE in combination with the gas-detector array CHICO, and (iv) via a B-11+ Te-130 fusion-evaporation reaction with the HORUS gamma-ray array at the University of Cologne. The high-spin level schemes of Xe-135 and Ba-137 are considerably extended to higher energies. The 2058-keV (19/2(-)) state in Xe-135 is identified as an isomer, closing a gap in the systematics along the N = 81 isotones. Its half-life is measured to be 9.0(9) ns, corresponding to a reduced transition probability of B(E2,19/2(-) -> 15/2(-)) = 0.52(6) W.u. The experimentally deduced reduced transition probabilities of the isomeric states are compared to shell-model predictions. Latest shell-model calculations reproduce the experimental findings generally well and provide guidance to the interpretation of the new levels.
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| 12. |
- Vogt, A., et al.
(författare)
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High-spin structure of Xe-134
- 2016
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Ingår i: PHYSICAL REVIEW C. - 2469-9985. ; 93:5
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Tidskriftsartikel (refereegranskat)abstract
- Detailed spectroscopic information on the N similar to 82 nuclei is necessary to benchmark shell-model calculations in the region. The nuclear structure above long-lived isomers in Xe-134 is investigated after multinucleon transfer (MNT) and actinide fission. Xenon-134 was populated as (i) a transfer product in Xe-136 + U-238 and Xe-136 + Pb-208 MNT reactions and (ii) as a fission product in the Xe-136 + U-238 reaction employing the high-resolution Advanced Gamma Tracking Array (AGATA). Trajectory reconstruction has been applied for the complete identification of beamlike transfer products with the magnetic spectrometer PRISMA. The Xe-136 + Pt-198 MNT reaction was studied with the gamma-ray spectrometer GAMMASPHERE in combination with the gas detector array Compact Heavy Ion Counter (CHICO). Several high-spin states in Xe-134 on top of the two long-lived isomers are discovered based on gamma gamma-coincidence relationships and information on the gamma-ray angular distributions as well as excitation energies from the total kinetic energy loss and fission fragments. The revised level scheme of Xe-134 is extended up to an
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| 13. |
- Joss, D. T., et al.
(författare)
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The influence of quasineutron configurations on 161Ta and nearby odd-A nuclei
- 2011
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Ingår i: AIP Conf. Proc.. - : AIP. - 9780735409835 ; , s. 43-48
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Konferensbidrag (refereegranskat)abstract
- Several strongly coupled bands in the neutron-deficient nucleus 161Ta have been identified and quasiparticle configuration assignments have been made on the basis of rotational alignments and cranked shell model calculations. The level scheme elucidated for 161Ta highlights the competition between the ν(h 9/2) and ν(i 13/2) orbitals to form the yrast spectrum. The band structures in 161Ta also provide new insights into the structural features of other heavy odd-A nuclei populated with much lower reaction cross sections in this region at the proton drip line.
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| 14. |
- Kanoni, Stavroula, et al.
(författare)
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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
- 2022
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Ingår i: Genome biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906 .- 1474-7596. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N=1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.
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| 15. |
- Graham, E. K., et al.
(författare)
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Personality predicts mortality risk: An integrative data analysis of 15 international longitudinal studies
- 2017
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Ingår i: Journal of Research in Personality. - : Elsevier BV. - 0092-6566. ; 70, s. 174-186
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Tidskriftsartikel (refereegranskat)abstract
- This study examined the Big Five personality traits as predictors of mortality risk, and smoking as a mediator of that association. Replication was built into the fabric of our design: we used a Coordinated Analysis with 15 international datasets, representing 44,094 participants. We found that high neuroticism and low conscientiousness, extraversion, and agreeableness were consistent predictors of mortality across studies. Smoking had a small mediating effect for neuroticism. Country and baseline age explained variation in effects: studies with older baseline age showed a pattern of protective effects (HR<1.00) for openness, and U.S. studies showed a pattern of protective effects for extraversion. This study demonstrated coordinated analysis as a powerful approach to enhance replicability and reproducibility, especially for aging-related longitudinal research. © 2017 Elsevier Inc.
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| 17. |
- Joss, D. T., et al.
(författare)
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Yrast spectroscopy in the neutron-deficient nucleus Os-169
- 2002
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Ingår i: Physical Review C. Nuclear Physics. - : American Physical Society. - 0556-2813 .- 1089-490X. ; 66:5
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Tidskriftsartikel (refereegranskat)abstract
- Excited states in the neutron-deficient isotope Os-169 have been identified for the first time in an experiment using the Jurosphere gamma-ray spectrometer in conjunction with the Ritu gas-filled recoil separator. The problems associated with identifying neutron-deficient isotopes produced with low fusion cross sections against a high background of competing channels, including fission, have been overcome by using the recoil-decay tagging technique. The band structures observed in Os-169 are interpreted in the context of the systematics of neighboring nuclei and the predictions of cranked Woods-Saxon calculations. The systematics of the second (i(13/2))(2) neutron alignment in this region are discussed.
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| 18. |
- Joss, D. T., et al.
(författare)
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Yrast states and band crossings in the neutron-deficient platinum isotopes Pt169-173
- 2006
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 74:1
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Tidskriftsartikel (refereegranskat)abstract
- The yrast states in the light platinum isotopes Pt169-173 have been investigated in a recoil-decay tagging experiment using the JUROGAM gamma-ray spectrometer in conjunction with the RITU gas-filled recoil separator and the GREAT tagging spectrometer. Gamma-ray transitions have been established for the first time in the odd-N isotopes, Pt-169 and Pt-173, and the yrast sequences in Pt-170 and Pt-172 have been extended. We discuss the possibility that the weakly deformed yrast structures of Pt-170, Pt-172, and Pt-173 are crossed by a deformed intruder configuration at spin similar to 8h.
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| 19. |
- Joss, D. T., et al.
(författare)
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Yrast structures in the light Pt isotopes Pt169-173
- 2005
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Ingår i: Journal of Physics G. - : IOP Publishing. - 0954-3899 .- 1361-6471. ; 31:10, s. S1715-S1718
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Tidskriftsartikel (refereegranskat)abstract
- The exploitation of the recoil-decay tagging (RDT) technique has reinvigorated experimental investigations of the shape coexistence phenomenon in heavy neutron-deficient nuclei. In a recent experiment using the JUROGAM and GREAT spectrometers in conjunction with the RITU gas-filled separator, excited states have been investigated in the light platinum isotopes. In addition to extending the yrast sequences in Pt-170 and Pt-172, the first observation of excited states in the odd-N isotopes, Pt-169 and Pt-173, is reported. The bands are discussed in terms of trends in level excitation energies as a function of neutron number.
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| 20. |
- Lagergren, Karin, et al.
(författare)
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gamma-soft shapes and quasiparticle excitations in Ta-161(73)88
- 2011
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 83:1, s. 014313-
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Tidskriftsartikel (refereegranskat)abstract
- Excited states in the neutron-deficient odd-Z nuclide Ta-161 were identified for the first time using the Cd-106(Ni-58,3p gamma) reaction at a beam energy of 270 MeV. The pi h(11/2) band, yrast at low spin, was observed up to (47/2(-)) and a further four strongly coupled bands have been established to high spin. Quasiparticle configuration assignments for the new band structures have been made on the basis of cranked shell model calculations. This work suggests that the negative-parity nu(f(7/2), h(9/2)) orbitals are responsible for the first rotational alignment in the pi h(11/2) band.
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| 21. |
- Scholey, C., et al.
(författare)
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In-beam and decay spectroscopy of very neutron deficient iridium nuclei
- 2005
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Ingår i: Journal of Physics G. - : IOP Publishing. - 0954-3899 .- 1361-6471. ; 31:10, s. S1719-S1722
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Tidskriftsartikel (refereegranskat)abstract
- Iridium nuclei at and beyond the proton drip line have been studied via fusion evaporation reactions. A reaction of Mo-92(Kr-78, p2n) at a beam energy of 360 MeV and target thickness 500 mu g cm(-2) was employed to study (167,167m) Ir. A reaction of Sn-112(Ni-58, p2n) at a beam energy of 266 MeV and target thickness 500 mu g cm(-2) was used to study (169,169m) Ir. The experiments were performed at the University of Jyvaskyla utilizing the RITU separator in conjunction with the focal plane GREAT spectrometer and the JUROGAM Ge array at the target position. Excited states feeding. both the ground state and isomeric state in Ir-169, excited states feeding the ground state of Ir-167 and the ground state alpha decay of Re-165 have been observed for the first time along with excited states feeding (167)m Ir Experimental spectroscopic factors and reduced widths have been obtained for the proton and alpha decay of these nuclei.
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| 22. |
- Antoniou, A C, et al.
(författare)
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Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies
- 2005
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Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 42:7, s. 602-603
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Tidskriftsartikel (refereegranskat)abstract
- A recent report estimated the breast cancer risks in carriers of the three Ashkenazi founder mutations to be higher than previously published estimates derived from population based studies. In an attempt to confirm this, the breast and ovarian cancer risks associated with the three Ashkenazi founder mutations were estimated using families included in a previous meta-analysis of populatrion based studies. The estimated breast cancer risks for each of the founder BRCA1 and BRCA2 mutations were similar to the corresponding estimates based on all BRCA1 or BRCA2 mutations in the meta-analysis. These estimates appear to be consistent with the observed prevalence of the mutations in the Ashkenazi Jewish population.
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| 25. |
- Khatri, B., et al.
(författare)
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Genome-wide association study identifies Sjogren's risk loci with functional implications in immune and glandular cells
- 2022
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Sjogren's disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjogren's cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands. The genetic architecture underlying Sjogren's syndrome is not fully understood. Here, the authors perform a genome-wide association study to identify 10 new genetic risk regions, implicating genes involved in immune and salivary gland function.
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