| 1. |
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| 2. |
- 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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| 3. |
- Sliz, E., et al.
(författare)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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| 4. |
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| 5. |
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| 6. |
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| 7. |
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| 8. |
- Kurki, MI, et al.
(författare)
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FinnGen provides genetic insights from a well-phenotyped isolated population
- 2023
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 613:7944, s. 508-
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Tidskriftsartikel (refereegranskat)abstract
- Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored1,2. FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63 years) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), P < 2.6 × 10–11) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of <5% in non-Finnish European individuals, of which 62 (32 PWS) were enriched by more than twofold in Finland. These findings demonstrate the power of bottlenecked populations to find entry points into the biology of common diseases through low-frequency, high impact variants.
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| 9. |
- Polettini, M., et al.
(författare)
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Decay studies in the A∼225 Po-Fr region from the DESPEC campaign at GSI in 2021
- 2022
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Ingår i: Il Nuovo Cimento. - : Società Italiana di Fisica. - 2037-4909. ; 45:5
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Tidskriftsartikel (refereegranskat)abstract
- The HISPEC-DESPEC collaboration aims at investigating the structure of exotic nuclei formed in fragmentation reactions with decay spectroscopy measurements, as part of the FAIR Phase-0 campaign at GSI. This paper reports on first results of an experiment performed in spring 2021, with a focus on beta-decaystudies in the Po-Fr nuclei in the 220 < A <230 island of octupole deformation exploiting the DESPEC setup. Ion-beta correlations and fast-timing techniques are being employed, giving an insight into this difficult-to-reach region.
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| 10. |
- 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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| 11. |
- Bianco, L., et al.
(författare)
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Discovery of W-157 and Os-161
- 2010
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 690:1, s. 15-18
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Tidskriftsartikel (refereegranskat)abstract
- The nuclides W-157 and Os-161 have been discovered ill reactions of Ni-58 ion beams with a Cd-106 target. The Os-161 alpha-decay energy and half-life were 6890 +/- 12 keV and 640 +/- 60 mu s. The daughter W-157 nuclei beta-decayed with a half-life of 275 +/- 40 ms, populating both low-lying alpha-decaying states in Ta-157, which is consistent with a 7/2(-) ground state in W-157. Fine structure observed in the alpha decay of Os-161 places the lowest excited state in W-157 with 1(pi) = 9/2(-) at 318 +/- 30 key. The branching ratio of 5.5(-2.2)(+3.1)% indicates that Os-161 also has a 7/2(-) ground state. Shell-model calculations analysing the effects of monopole shifts and a tensor force on the relative energies of 2f(7/2) and 1h(9/2) neutron states in N = 83 isotones are presented. (C) 2010 Elsevier B.V. All rights reserved.
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| 12. |
- Davis-Merry, T. R., et al.
(författare)
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Collective excitations in the transitional nuclei Re-163 and Re-165
- 2015
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 91:3
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Tidskriftsartikel (refereegranskat)abstract
- Excited states in the neutron-deficient nuclei (163)(75) Re-88 and (165)(75) Re-90 were populated in the Cd-106(Ni-60, p2n gamma) and Mo-92(Kr-78, 3p2n gamma) fusion-evaporation reactions at bombarding energies of 270 and 380 MeV, respectively.. rays were detected at the target position using the JUROGAM spectrometer while recoiling ions were separated in-flight by the RITU gas-filled recoil separator and implanted in the GREAT spectrometer. The energy level schemes for Re-163 and Re-165 were identified using recoil-decay correlation techniques. At low spin, the yrast bands of these isotopes consist of signature partner bands based on a single pi h(11/2) quasiproton configuration. The bands display large energy splitting consistent with the soft triaxial shape typical of transitional nuclei above N = 82. The configurations of the excited states are proposed within the framework of the cranked shell model.
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| 13. |
- Ertoprak, Aysegul, et al.
(författare)
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Evidence for octupole collectivity in 172Pt
- 2020
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Ingår i: European Physical Journal A. - : Springer. - 1434-6001 .- 1434-601X. ; 56:2
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Tidskriftsartikel (refereegranskat)abstract
- Excited states in the extremely neutron-deficient nucleus 172Pt were populated via 96Ru(78Kr,2p) and 92Mo(83Kr,3n) reactions. The level scheme has been extended up to an excitation energy of ~ 5 MeV and tentative spin-parity assignments up to Iπ = 18+. Linear polarization and angular distribution measurements were used to determine the electromagnetic E1 character of the dipole transitions connecting the positive-parity ground-state band with an excited side-band, firmly establishing it as a negative-parity band. The lowest member of this negative-parity structure was firmly assigned spin-parity 3-. In addition, we observed an E3 transition from this 3- state to the ground state, providing direct evidence for octupole collectivity in 172Pt. Large-scale shell model (LSSM) and total Routhian surface (TRS) calculations have been performed, supporting the interpretation of the 3- state as a collective octupole-vibrational state.
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| 14. |
- Joss, D. T., et al.
(författare)
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Evolving collective structures in the transitional nuclei W-162 and W-164
- 2016
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Ingår i: PHYSICAL REVIEW C. - : American Physical Society. - 2469-9985. ; 93:2
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Tidskriftsartikel (refereegranskat)abstract
- Excited states in the neutron-deficient nuclides(74)(162)W(88) and W-164(74)90 were investigated by using the gamma-ray spectrometer Jurogam. A change in structure is apparent from the first rotational alignments in W-162 and W-164, whose rotationally aligned bands are interpreted as nu(h(9/2))(2) and nu(i(13/2))(2) configurations, respectively. The level schemes have been extended using recoil (-decay) correlations with the observation of excited collective structures. Configuration assignments have been made on the basis of comparisons of the deduced aligned angular momentum, as a function of rotational frequency, with the predictions of the cranked shell model.
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| 15. |
- Ketelhut, S., et al.
(författare)
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gamma-Ray Spectroscopy at the Limits : First Observation of Rotational Bands in Lr-255
- 2009
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 102:21, s. 212501-
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Tidskriftsartikel (refereegranskat)abstract
- The rotational band structure of Lr-255 has been investigated using advanced in-beam gamma-ray spectroscopic techniques. To date, Lr-255 is the heaviest nucleus to be studied in this manner. One rotational band has been unambiguously observed and strong evidence for a second rotational structure was found. The structures are tentatively assigned to be based on the 1/2(-)[521] and 7/2(-)[514] Nilsson states, consistent with assignments from recently obtained alpha decay data. The experimental rotational band dynamic moment of inertia is used to test self-consistent mean-field calculations using the Skyrme SLy4 interaction and a density-dependent pairing force.
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| 16. |
- Taylor, M. J., et al.
(författare)
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Oblately deformed isomeric proton-emitting state in Lu-151
- 2015
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 91:4
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Tidskriftsartikel (refereegranskat)abstract
- Gamma rays from excited states feeding a proton-emitting isomeric-state in Lu-151 have been observed for the first time. Comparison with state-of-the-art nonadiabatic quasiparticle calculations indicates an oblately deformed, 3/2(+) proton-emitting state with a quadrupole deformation of beta(2) = -0.11. The calculations suggest an increase in quadrupole deformation, to beta(2) = -0.18, with increasing spin which is understood in terms of the mixing of Nilsson states at the Fermi surface. It is also shown that the proton decay half-life is consistent with that from a 3/2(+) state with a quadrupole deformation of beta(2) = -0.12.
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| 17. |
- Bäck, Torbjörn, et al.
(författare)
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Lifetime measurement of the first excited 2(+) state in (108)Te
- 2011
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 84:4, s. 041306-
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Tidskriftsartikel (refereegranskat)abstract
- The lifetime of the first excited 2(+) state in the neutron deficient nuclide (108)Te has been measured for the first time, using a combined recoil decay tagging and recoil distance Doppler shift technique. The deduced reduced transition probability is B(E2;0(g.s.)(+) -> 2(+)) = 0.39(-0.04)(+0.05)e(2)b(2). Compared to previous experimental data on neutron deficient tellurium isotopes, the new data point constitutes a large step (six neutrons) toward the N = 50 shell closure. In contrast to what has earlier been reported for the light tin isotopes, our result for tellurium does not show any enhanced transition probability with respect to the theoretical predictions and the tellurium systematics including the new data is successfully reproduced by state-of-the-art shell model calculations.
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| 18. |
- Hodge, D., et al.
(författare)
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Identification of a dipole band above the Iπ=31/2- isomeric state in Pb 189
- 2015
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Ingår i: Physical Review C. Nuclear Physics. - : American Physical Society. - 0556-2813 .- 1089-490X. ; 92:5
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Tidskriftsartikel (refereegranskat)abstract
- A dipole band of six transitions built upon a firmly established Iπ=31/2- isomeric state has been identified in Pb189 using recoil-isomer tagging. This is the lightest odd-mass Pb nucleus in which a dipole band is known. The dipole nature of the new transitions has been confirmed through angular-intensity arguments. The evolution of the excitation energy and the aligned-angular momentum of the states in the new dipole band are compared with those of dipole bands in heavier, odd-mass lead isotopes. This comparison suggests that the new band in Pb189 is based upon a π[s1/2-2h9/2i13/2]11- - ν[i13/2+-1]13/2+ configuration. However, the increased aligned-angular momentum in Pb189 may suggest evidence for a reduced repulsive proton/neutron-hole interaction compared to dipole bands in the heavier mass isotopes.
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| 19. |
- Moukaddam, M., et al.
(författare)
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In-beam internal conversion electron spectroscopy with the SPICE detector
- 2018
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Ingår i: Nuclear Instruments and Methods in Physics Research, Section A: Accelerators, Spectrometers, Detectors and Associated Equipment. - : Elsevier BV. - 0168-9002. ; 905, s. 180-187
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Tidskriftsartikel (refereegranskat)abstract
- The SPectrometer for Internal Conversion Electrons (SPICE) has been commissioned for use in conjunction with the TIGRESS γ-ray spectrometer at TRIUMF's ISAC-II facility. SPICE features a permanent rare-earth magnetic lens to collect and direct internal conversion electrons emitted from nuclear reactions to a thick, highly segmented, lithium-drifted silicon detector. This arrangement, combined with TIGRESS, enables in-beam γ-ray and internal conversion electron spectroscopy to be performed with stable and radioactive ion beams. Technical aspects of the device, capabilities, and initial performance are presented.
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| 20. |
- Pereira-López, X., et al.
(författare)
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In-beam γ -ray spectroscopy of 94 Ag
- 2023
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Ingår i: European Physical Journal A. - : Springer Science and Business Media LLC. - 1434-6001 .- 1434-601X. ; 59:3
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Tidskriftsartikel (refereegranskat)abstract
- A recoil-beta-tagging experiment has been performed to study the excited T= 0 and T= 1 states in the odd–odd N= Z nucleus 94Ag, populated via the 40Ca(58Ni,1p3n)94Ag reaction. The experiment was conducted using the MARA recoil separator and JUROGAM3 array at the Accelerator Laboratory of the University of Jyväskylä. Through correlating fast, high-energy beta decays at the MARA focal plane with prompt γ rays emitted at the reaction target, a number of transitions between excited states in 94Ag have been identified. The timing characteristics of these transitions confirm that they fall within decay sequences that feed the short-lived T= 1 ground state of 94Ag. The transitions are proposed to proceed within and between the sets of states with T= 0 and T= 1. Possible correspondence between some of these transitions from analog states in 94Pd has been discussed, and shell-model calculations including multipole and monopole electromagnetic effects have been presented, in order to enable predictions of the decay patterns between the T= 0 and T= 1 states and to allow a theoretical set of Coulomb energy differences to be calculated for the A= 94 T= 1 analog states.
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| 21. |
- Saygi, B., et al.
(författare)
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Reduced transition probabilities along the yrast line in W-166
- 2017
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Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 96:2
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Tidskriftsartikel (refereegranskat)abstract
- Lifetimes of excited states in the yrast band of the neutron-deficient nuclide W-166 have been measured utilizing the DPUNS plunger device at the target position of the JUROGAM II gamma-ray spectrometer in conjunction with the RITU gas-filled separator and the GREAT focal-plane spectrometer. Excited states in W-166 were populated in the Mo-92(Kr-78, 4p) reaction at a bombarding energy of 380 MeV. The measurements reveal a low value for the ratio of reduced transitions probabilities for the lowest-lying transitions B(E2; 4(+)-> 2(+)) / B(E2; 2(+)-> 0(+)) = 0.33(5), compared with the expected ratio for an axially deformed rotor (B-4/2 = 1.43).
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| 22. |
- Zhang, W., et al.
(författare)
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Decay spectroscopy of 171,172Os and 171,172,174Ir
- 2023
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Ingår i: Physical Review C. - : American Physical Society (APS). - 2469-9985 .- 2469-9993. ; 107:1
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Tidskriftsartikel (refereegranskat)abstract
- We report on a study of the α-decay fine structure and the associated Eα−Eγ correlations in the decays of 171,172Os and 171,172,174Ir. In total, 13 new α-decay energy lines have been resolved, and three new γ-ray transitions have been observed following the new decay branches to 168Re and 167W. The weak α-decay branch from the bandhead of the νi13/2 band in 171Os observed in this work highlights an unusual competition between α, β, and electromagnetic decays from this isomeric state. The nucleus 171Os is therefore one of few nuclei observed to exhibit three different decay modes from the same excited state. The nuclei of interest were produced in 92Mo(83Kr,xpyn) fusion-evaporation reactions at the Accelerator Laboratory of the University of Jyväskylä, Finland. The fusion products were selected using the gas-filled ion separator RITU and their decays were characterized using an array of detectors for charged particles and electromagnetic radiation known as GREAT. Prompt γ-ray transitions were detected and correlated with the decays using the JUROGAM II germanium detector array surrounding the target position. Results obtained from total Routhian surface (TRS) calculations suggest that α-decay fine structure and the associated hindrance factors may be a sensitive probe of even relatively small shape changes between the final states in the daughter nucleus.
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| 23. |
- Ahlgren Cederlöf, Ebba, et al.
(författare)
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Lifetime measurement of the yrast 2+ state in 118Te
- 2023
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Ingår i: European Physical Journal A. - : Springer. - 1434-6001 .- 1434-601X. ; 59:12
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Tidskriftsartikel (refereegranskat)abstract
- The electromagnetic transition probabilities of the yrast 2+ states in the midshell Te isotopes, two protons above the closed shell at Sn, are of great importance for the understanding of nuclear collectivity in these isotopes and the role played by the neutron-proton interactions and cross-shell excitations. However, the large uncertainty of the experimental data for the midshell nucleus 118Te and the missing data for 116Te make it difficult to pin down the general trend of the evolution of transition probabilities as a function of the neutron number. In this work, the lifetime of the yrast 2+ state in 118Te was measured, with the aim of reducing the uncertainty of the previous measurement. The result is τ2+ = 7.46(19) ps. In addition, the lifetime of the 4+ state was measured to be τ4+ = 4.25(23) ps. The experimental transition rates are extracted from the measured lifetimes and compared with systematic large-scale shell-model calculations. The trend of the B(E2; 0+ → 2+) values in the midshell area is in good agreement with the calculations and the calculated B4/2 ratio provide evidence for 118Te as a near perfect harmonic vibrator.
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| 24. |
- Doncel, Maria, et al.
(författare)
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Lifetime measurements of excited states in W-162 and W-164 and the evolution of collectivity in rare-earth nuclei
- 2017
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Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 95:4
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Tidskriftsartikel (refereegranskat)abstract
- Lifetimes of the first excited 2(+) states in the extremely neutron- deficient W-162 and W-164 nuclei have been measured using the recoil distance Doppler shift technique. Experimental B(E2) data for the isotopic chains of hafnium, tungsten, and osmium, from the midshell region near the beta-stability line towards the N = 82 closed shell and the most neutron-deficient nuclides, are compared with predictions of nuclear deformations and 2(1)(+) -> 0(g.s)(.+) reduced transition strengths from different classes of state-of-the-art theoretical model calculations. The results reveal striking differences and deficiencies in the predictive power of current nuclear structure models.
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| 25. |
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