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| 6. |
- Olalde, I., et al.
(författare)
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The Beaker phenomenon and the genomic transformation of northwest Europe
- 2018
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 555:7695, s. 190-196
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Tidskriftsartikel (refereegranskat)abstract
- From around 2750 to 2500 bc, Bell Beaker pottery became widespread across western and central Europe, before it disappeared between 2200 and 1800 bc. The forces that propelled its expansion are a matter of long-standing debate, and there is support for both cultural diffusion and migration having a role in this process. Here we present genome-wide data from 400 Neolithic, Copper Age and Bronze Age Europeans, including 226 individuals associated with Beaker-complex artefacts. We detected limited genetic affinity between Beaker-complex-associated individuals from Iberia and central Europe, and thus exclude migration as an important mechanism of spread between these two regions. However, migration had a key role in the further dissemination of the Beaker complex. We document this phenomenon most clearly in Britain, where the spread of the Beaker complex introduced high levels of steppe-related ancestry and was associated with the replacement of approximately 90% of Britain's gene pool within a few hundred years, continuing the east-to-west expansion that had brought steppe-related ancestry into central and northern Europe over the previous centuries.
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| 7. |
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| 8. |
- Dahl-Jensen, D., et al.
(författare)
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Eemian interglacial reconstructed from a Greenland folded ice core
- 2013
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 493:7433, s. 489-494
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Tidskriftsartikel (refereegranskat)abstract
- Efforts to extract a Greenland ice core with a complete record of the Eemian interglacial (130,000 to 115,000 years ago) have until now been unsuccessful. The response of the Greenland ice sheet to the warmer-than-present climate of the Eemian has thus remained unclear. Here we present the new North Greenland Eemian Ice Drilling ('NEEM') ice core and show only a modest ice-sheet response to the strong warming in the early Eemian. We reconstructed the Eemian record from folded ice using globally homogeneous parameters known from dated Greenland and Antarctic ice-core records. On the basis of water stable isotopes, NEEM surface temperatures after the onset of the Eemian (126,000 years ago) peaked at 8 +/- 4 degrees Celsius above the mean of the past millennium, followed by a gradual cooling that was probably driven by the decreasing summer insolation. Between 128,000 and 122,000 years ago, the thickness of the northwest Greenland ice sheet decreased by 400 +/- 250 metres, reaching surface elevations 122,000 years ago of 130 +/- 300 metres lower than the present. Extensive surface melt occurred at the NEEM site during the Eemian, a phenomenon witnessed when melt layers formed again at NEEM during the exceptional heat of July 2012. With additional warming, surface melt might become more common in the future.
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| 9. |
- Hillier, Ladeana W, et al.
(författare)
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Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
- 2004
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Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 432:7018, s. 695-716
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Tidskriftsartikel (refereegranskat)abstract
- We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to have its genome sequenced, the draft sequence of its genome--composed of approximately one billion base pairs of sequence and an estimated 20,000-23,000 genes--provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes. For example, the evolutionary distance between chicken and human provides high specificity in detecting functional elements, both non-coding and coding. Notably, many conserved non-coding sequences are far from genes and cannot be assigned to defined functional classes. In coding regions the evolutionary dynamics of protein domains and orthologous groups illustrate processes that distinguish the lineages leading to birds and mammals. The distinctive properties of avian microchromosomes, together with the inferred patterns of conserved synteny, provide additional insights into vertebrate chromosome architecture.
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| 10. |
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| 11. |
- Fountoulakis, KN, et al.
(författare)
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Relationship of suicide rates to economic variables in Europe: 2000-2011
- 2014
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Ingår i: The British journal of psychiatry : the journal of mental science. - : Royal College of Psychiatrists. - 1472-1465. ; 205:6, s. 486-496
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Tidskriftsartikel (refereegranskat)abstract
- It is unclear whether there is a direct link between economic crises and changes in suicide rates.AimsThe Lopez-Ibor Foundation launched an initiative to study the possible impact of the economic crisis on European suicide rates.MethodData was gathered and analysed from 29 European countries and included the number of deaths by suicide in men and women, the unemployment rate, the gross domestic product (GDP) per capita, the annual economic growth rate and inflation.ResultsThere was a strong correlation between suicide rates and all economic indices except GPD per capita in men but only a correlation with unemployment in women. However, the increase in suicide rates occurred several months before the economic crisis emerged.ConclusionsOverall, this study confirms a general relationship between the economic environment and suicide rates; however, it does not support there being a clear causal relationship between the current economic crisis and an increase in the suicide rate.
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| 12. |
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| 13. |
- Maronidis, A., et al.
(författare)
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PERICLES Deliverable 4.3: Content Semantics and Use Context Analysis Techniques
- 2016
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Rapport (refereegranskat)abstract
- The current deliverable summarises the work conducted within task T4.3 of WP4, focusing on the extraction and the subsequent analysis of semantic information from digital content, which is imperative for its preservability. More specifically, the deliverable defines content semantic information from a visual and textual perspective, explains how this information can be exploited in long-term digital preservation and proposes novel approaches for extracting this information in a scalable manner. Additionally, the deliverable discusses novel techniques for retrieving and analysing the context of use of digital objects. Although this topic has not been extensively studied by existing literature, we believe use context is vital in augmenting the semantic information and maintaining the usability and preservability of the digital objects, as well as their ability to be accurately interpreted as initially intended.
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| 14. |
- O'Leary, C. D., et al.
(författare)
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Evidence for isovector neutron-proton pairing from high-spin states in N = Z 74Rb
- 2003
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Ingår i: Physical Review C - Nuclear Physics. - 0556-2813. ; 67:2, s. 213011-213015
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Tidskriftsartikel (refereegranskat)abstract
- High-spin states in the odd-odd N = Z nucleus 3774Rb37 were studied using the 40Ca(40Ca,αnp) reaction. A previously observed odd-spin T = 0 band has been extended to Iπ = (31+) and an even-spin T = 0 band has been observed for the first time to Iπ = (22+); both have a π(g9/2)⊗ν(g9/2) structure. A strongly coupled low-spin T = 0, K = 3 band has been interpreted as being based upon a π[312]3/2 ⊗ ν[312]3/2 configuration. Cranked relativistic Hartree-Bogoliubov calculations, which are corrected for the t = 1 np-pair field by restoring isospin symmetry, reproduce the observed spectrum. These new results provide evidence for the existence of an isovector pair field that contains a neutron-proton component with the proper strength for ensuring isospin conservation.
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| 15. |
- Fountoulakis, K.N., et al.
(författare)
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Modeling psychological function in patients with schizophrenia with the PANSS : An international multi-center study
- 2021
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Ingår i: CNS Spectrums. - : Cambridge University Press. - 1092-8529 .- 2165-6509. ; 26:3, s. 290-298
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Tidskriftsartikel (refereegranskat)abstract
- Background.The aim of the current study was to explore the changing interrelationships among clinical variables through the stages of schizophrenia in order to assemble a comprehensive and meaningful disease model.Methods.Twenty-nine centers from 25 countries participated and included 2358 patients aged 37.21 ± 11.87 years with schizophrenia. Multiple linear regression analysis and visual inspection of plots were performed.Results.The results suggest that with progression stages, there are changing correlations among Positive and Negative Syndrome Scale factors at each stage and each factor correlates with all the others in that particular stage, in which this factor is dominant. This internal structure further supports the validity of an already proposed four stages model, with positive symptoms dominating the first stage, excitement/hostility the second, depression the third, and neurocognitive decline the last stage.Conclusions.The current study investigated the mental organization and functioning in patients with schizophrenia in relation to different stages of illness progression. It revealed two distinct “cores” of schizophrenia, the “Positive” and the “Negative,” while neurocognitive decline escalates during the later stages. Future research should focus on the therapeutic implications of such a model. Stopping the progress of the illness could demand to stop the succession of stages. This could be achieved not only by both halting the triggering effect of positive and negative symptoms, but also by stopping the sensitization effect on the neural pathways responsible for the development of hostility, excitement, anxiety, and depression as well as the deleterious effect on neural networks responsible for neurocognition.
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| 16. |
- Gellanki, Jnaneswari, et al.
(författare)
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Characterization of Superdeformed Bands in 62Zn
- 2009
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 80:5
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Tidskriftsartikel (refereegranskat)abstract
- Combined data from four fusion-evaporation reaction experiments were utilized to investigate deformed and superdeformed structures in Zn-62(30)32. Combination of the Gammasphere gamma-ray spectrometer and ancillary particle detection systems allowed for the connection of rotational bands to well-known, low-lying excited states in Zn-62, as well as spectroscopy of discrete high-spin states reaching excitation energies of E-x=42.5 MeV. Four well- or superdeformed bands in Zn-62 are characterized and described by means of cranked Nilsson-Strutinsky calculations.
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| 17. |
- Karlgren, Daniel, et al.
(författare)
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High-angular-momentum structures in Zn-64
- 2004
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 69, s. 1-034330
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Tidskriftsartikel (refereegranskat)abstract
- High-angular-momentum states in Zn-64 were populated in the Ca-40(Si-28,4p) reaction at a beam energy of 122 MeV. Evaporated, light, charged particles were identified by the Microball, while gamma rays were detected using the Gammasphere array. The main focus of this paper is on two strongly coupled, collective bands. The yrast band, which was previously known, has been linked to lower-lying states establishing the excitation energies and angular momenta of in-band states for the first time. The newly identified excited band decays to the yrast band but firm angular-momentum assignments could not be made. In order to interpret these structures cranked-Nilsson-Strutinsky calculations have been performed. The calculations have been extended to account for the distribution of nucleons within a configuration. The yrast collective band is interpreted as based on the pi(f(7/2))(-1)(p(3/2)f(5/2))(2)(g(9/2))(1)nu(p(3/2)f(5/2))(4)(g(9/2))(2) configuration. There are several possible interpretations of the second band but it is difficult to distinguish between the different possibilities.
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| 18. |
- Mullins, S. M., et al.
(författare)
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Extruder proton-hole band in the near-drip-line nucleus [Formula Presented] Pr
- 1998
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Ingår i: Physical Review C - Nuclear Physics. - 0556-2813. ; 58:5, s. 2626-2630
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Tidskriftsartikel (refereegranskat)abstract
- The near-drip-line nucleus [Formula Presented] Pr was populated with the reaction [Formula Presented] Mo[Formula Presented] Ca,[Formula Presented] at a beam energy of 175 [Formula Presented] V. Particle-[Formula Presented]-[Formula Presented] coincidences were collected, and the total energy plane gating technique was used to enhance events associated with the [Formula Presented] exit channel. This enabled two new rotational bands to be assigned to [Formula Presented] Pr, including a strongly coupled structure. Its similarity with analogous bands in heavier Pr isotopes suggests this structure is most likely based on a hole in the extruder [Formula Presented]proton orbital. The occupancy of this orbital is associated with enhanced quadrupole deformation in this mass region.
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| 19. |
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| 20. |
- Adhikari, Subash, et al.
(författare)
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A high-stringency blueprint of the human proteome
- 2020
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1
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Forskningsöversikt (refereegranskat)abstract
- The Human Proteome Organization (HUPO) launched the Human Proteome Project (HPP) in 2010, creating an international framework for global collaboration, data sharing, quality assurance and enhancing accurate annotation of the genome-encoded proteome. During the subsequent decade, the HPP established collaborations, developed guidelines and metrics, and undertook reanalysis of previously deposited community data, continuously increasing the coverage of the human proteome. On the occasion of the HPP’s tenth anniversary, we here report a 90.4% complete high-stringency human proteome blueprint. This knowledge is essential for discerning molecular processes in health and disease, as we demonstrate by highlighting potential roles the human proteome plays in our understanding, diagnosis and treatment of cancers, cardiovascular and infectious diseases.
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| 21. |
- Andersson, T., et al.
(författare)
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High-spin States in the A=39 Mirror Nuclei 39Ca and 39K
- 1999
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Ingår i: European Physical Journal A. Hadrons and Nuclei. - 1434-6001. ; 6, s. 5-8
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Tidskriftsartikel (refereegranskat)abstract
- High-spin states of the mass A = 39 mirror pair K-39 and Ca-39 were investigated via the fusion-evaporation reaction Si-28+O-16 at 125 MeV beam energy. The GAMMASPHERE array in conjunction with the 4 pi charged-particle detector array MICROBALL and neutron detectors was used to detect gamma rays in coincidence with evaporated light particles. The results of the first high-spin study of the T-z = -1/2 nucleus Ca-39 are discussed in terms of mirror symmetry and compared to spherical shell-model calculations in the 1d(3/2)-1f(7/2) configuration space.
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| 22. |
- Andreoiu, Corina, et al.
(författare)
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Yrast Superdeformed Band in 59Cu
- 2000
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 62:5, s. 513011-513015
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Tidskriftsartikel (refereegranskat)abstract
- High-spin states in 59Cu were populated using the fusion-evaporation reactions 28Si+40Ca at a beam energy of 125 MeV and 36Ar+28Si at a beam energy of 143 MeV. The Gammasphere array in conjunction with ancillary detector systems allowed for the identification of a superdeformed rotational band in 59Cu, which was firmly linked to low-spin yrast states. Using directional correlations of oriented states, a spin-parity assignment of Iπ = 25/2+ to the band head was possible. The average quadrupole moment of the band is measured to be Qt = (2.24±0.40) e b. The characteristics of the band are compared to neighboring nuclei and predictions of different mean-field theories.
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| 23. |
- Cederwall, Bo, et al.
(författare)
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PROPERTIES OF SUPERDEFORMED BANDS IN DY-153
- 1995
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 346:3-4, s. 244-250
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Tidskriftsartikel (refereegranskat)abstract
- Two new superdeformed (SD) bands in Dy-153, in addition to the three previously observed, have been studied with the GAMMASPHERE detector array. Assignments to single-neutron orbits in the SD potential are made based on the band properties. Evidence for a band interaction at very high spins, possibly involving the first N = 7 proton intruder orbital, is observed in the strongest populated SD band. Furthermore, evidence far a Delta I = 2 staggering is also found in this SD band.
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| 24. |
- Chakera, Annette H., et al.
(författare)
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EANM-EORTC general recommendations for sentinel node diagnostics in melanoma
- 2009
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Ingår i: European Journal of Nuclear Medicine and Molecular Imaging. - : Springer Science and Business Media LLC. - 1619-7070 .- 1619-7089. ; 36:10, s. 1713-1742
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Forskningsöversikt (refereegranskat)abstract
- The accurate diagnosis of a sentinel node in melanoma includes a sequence of procedures from different medical specialities (nuclear medicine, surgery, oncology, and pathology). The items covered are presented in 11 sections and a reference list: (1) definition of a sentinel node, (2) clinical indications, (3) radiopharmaceuticals and activity injected, (4) dosimetry, (5) injection technique, (6) image acquisition and interpretation, (7) report and display, ( 8) use of dye, ( 9) gamma probe detection, (10) surgical techniques in sentinel node biopsy, and (11) pathological evaluation of melanoma-draining sentinel lymph nodes. If specific recommendations given cannot be based on evidence from original, scientific studies, referral is given to "general consensus" and similar expressions. The recommendations are designed to assist in the practice of referral to, performance, interpretation and reporting of all steps of the sentinel node procedure in the hope of setting state-of-the-art standards for good-quality evaluation of possible spread to the lymphatic system in intermediate-to-high risk melanoma without clinical signs of dissemination.
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| 25. |
- Ericzon, Bo-Göran, et al.
(författare)
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Liver transplantation for hereditary transthyretin amyloidosis : after 20 years still the best therapeutic alternative?
- 2015
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Ingår i: Transplantation. - 0041-1337 .- 1534-6080. ; 99:9, s. 1847-1854
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Until recently, liver transplantation (Ltx) was the only available treatment for hereditary transthyretin (TTR) amyloidosis; today, however, several pharmacotherapies are tested. Herein, we present survival data from the largest available database on transplanted hereditary TTR patients to serve as a base for comparison.METHODS: Liver transplantation was evaluated in a 20-year retrospective analysis of the Familial Amyloidosis Polyneuropathy World Transplant Registry.RESULTS: From April 1990 until December 2010, data were accumulated from 77 liver transplant centers. The Registry contains 1940 patients, and 1379 are alive. Eighty-eight Ltx were performed in combination with a heart and/or kidney transplantation. Overall, 20-year survival after Ltx was 55.3%. Multivariate analysis revealed modified body mass index, early onset of disease (<50 years of age), disease duration before Ltx, and TTR Val30Met versus non-TTR Val30Met mutations as independent significant survival factors. Early-onset patients had an expected mortality rate of 38% that of the late-onset group (P < 0.001). Furthermore, Val30Met patients had an expected mortality rate of 61% that of non-TTR Val30Met patients (P < 0.001). With each year of duration of disease before Ltx, expected mortality increased by 11% (P < 0.001). With each 100-unit increase in modified body mass index at Ltx, the expected mortality decreased to 89% of the expected mortality (P < 0.001). Cardiovascular death was markedly more common than that observed in patients undergoing Ltx for end-stage liver disease.CONCLUSIONS: Long-term survival after Ltx, especially for early-onset TTR Val30Met patients, is excellent. The risk of delaying Ltx by testing alternative treatments, especially in early-onset TTR Val30Met patients, requires consideration.
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| 26. |
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| 27. |
- Gellanki, Jnaneswari, et al.
(författare)
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Extensive Gamma-ray Spectroscopy of Band Structures in 62Zn
- 2012
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 86:3
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Tidskriftsartikel (refereegranskat)abstract
- An experimental study of the Zn-62 nucleus has been performed by combining the data sets from four fusion-evaporation reaction experiments. Apart from the previously published data, the present results include ten new rotational band structures and two more superdeformed bands. The Gammasphere Ge-detector array in conjunction with the 4 pi charged-particle detector array Microball allowed for the detection of gamma rays in coincidence with evaporated light particles. The deduced level scheme includes some 260 excited states, which are connected with more than 450 gamma-ray transitions. Spins and parities of the excited states have been determined via directional correlations of. rays emitted from oriented states. The experimental characteristics of the rotational bands are analyzed and compared with results from cranked Nilsson-Strutinsky calculations. The present analysis, combined with available experimental results in the A similar to 60 mass region, can be used to improve the current set of Nilsson parameters in the N = 3 and N = 4 oscillator shells.
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| 28. |
- Hannon, Eilis, et al.
(författare)
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DNA methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia
- 2021
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Ingår i: eLIFE. - : eLife Sciences Publications. - 2050-084X. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- We performed a systematic analysis of blood DNA methylation profiles from 4483 participants from seven independent cohorts identifying differentially methylated positions (DMPs) associated with psychosis, schizophrenia, and treatment-resistant schizophrenia. Psychosis cases were characterized by significant differences in measures of blood cell proportions and elevated smoking exposure derived from the DNA methylation data, with the largest differences seen in treatment-resistant schizophrenia patients. We implemented a stringent pipeline to meta-analyze epigenome-wide association study (EWAS) results across datasets, identifying 95 DMPs associated with psychosis and 1048 DMPs associated with schizophrenia, with evidence of colocalization to regions nominated by genetic association studies of disease. Many schizophrenia-associated DNA methylation differences were only present in patients with treatment-resistant schizophrenia, potentially reflecting exposure to the atypical antipsychotic clozapine. Our results highlight how DNA methylation data can be leveraged to identify physiological (e.g., differential cell counts) and environmental (e.g., smoking) factors associated with psychosis and molecular biomarkers of treatment-resistant schizophrenia.
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| 29. |
- Kontopoulos, Efstratios, et al.
(författare)
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PERICLES Deliverable 4.4: Modelling Contextualised Semantics
- 2016
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Rapport (refereegranskat)abstract
- The current deliverable summarises the work conducted within task T4.4 of WP4, presenting our proposed models for semantically representing digital content and its respective context – the latter refers to any information coming from the environment of the digital object (DO) that offers a better insight into the object’s status, its interrelationships with other content items and information about the object’s context of use. Within PERICLES, we refer to the content semantics enriched with the contextual perspective as “contextualised semantics”. The deliverable presents two complementary modelling approaches, based respectively on (a) ontologies and logics, and, (b) multivariate statistics.
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| 30. |
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| 31. |
- Mullins, S. M., et al.
(författare)
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Strong population of a superdeformed band in Eu142
- 1995
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Ingår i: Physical Review C. - 0556-2813. ; 52:1, s. 99-103
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Tidskriftsartikel (refereegranskat)abstract
- A superdeformed band has been found in Eu142. It is populated with 1.2(2)% of the total -ray intensity that decayed into Eu142 via the reaction Sn120(27Al,5n)142Eu at 152 MeV. The strength of the band is similar to that previously reported in Eu143, where the superdeformed band is populated with an intensity of 1.1(1)%. This is unexpected, since both total Routhian surface (TRS) and cranked modified oscillator (MO) calculations predict that the superdeformed band in Eu143 becomes yrast at lower spin than that in Eu142. This difference is 4Latin small letter h with stroke in the MO calculations and 8Latin small letter h with stroke in the TRS. Extrapolation of the normal-deformed yrast states in Eu143 shows, however, that a difference of 8Latin small letter h with stroke in spin corresponds to a change in the relative energy of the superdeformed and normal-deformed yrast lines of only 1 MeV.
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| 32. |
- Persson Waye, Kerstin, 1959, et al.
(författare)
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Assessing the exposure-response relationship of sleep disturbance and vibration in field and laboratory settings
- 2019
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Ingår i: Environmental Pollution. - : Elsevier BV. - 0269-7491. ; 245, s. 558-567
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Tidskriftsartikel (refereegranskat)abstract
- Exposure to nocturnal freight train vibrations may impact sleep, but exposure-response relationships are lacking. The European project CargoVibes evaluated sleep disturbance both in the field and in the laboratory and provides unique data, as measures of response and exposure metrics are comparable. This paper therefore provides data on exposure-response relationships of vibration and sleep disturbance and compares the relationships evaluated in the laboratory and the field. Two field studies (one in Poland and one in the Netherlands) with 233 valid respondents in total, and three laboratory studies in Sweden with a total of 59 subjects over 350 person-nights were performed. The odds ratios (OR) of sleep disturbance were analyzed in relation to nighttime vibration exposure by ordinal logit regression, adjusting for moderating factors common for the studies. Outcome specific fractions were calculated for eleven sleep outcomes and supported comparability between the field and laboratory settings. Vibration exposure was significantly associated with sleep disturbance, OR = 3.51 (95% confidence interval 2.6–4.73) denoting a three and a half times increase in the odds of sleep disturbance with one unit increased 8 h nighttime log10 Root Mean Square vibration. The results suggest no significant difference between field and laboratory settings OR = 1.37 (0.59–3.19). However, odds of sleep disturbance were higher in the Netherlands as compared to Sweden, indicating unexplained differences between study populations or countries, possibly related to cultural and contextual differences and uncertainties in exposure assessments. Future studies should be carefully designed to record explanatory factors in the field and enhance ecological validity in the laboratory. Nevertheless, the presented combined data set provides a first set of exposure response relationships for vibration-induced sleep disturbance, which are useful when considering public health outcomes among exposed populations. Exposure-response relationships of vibration exposure from trains and sleep disturbance were derived from laboratory studies and field studies, with no significant differences between the settings. © 2018 The Authors
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| 33. |
- Peter, Bradley, et al.
(författare)
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Defective mitochondrial protease LonP1 can cause classical mitochondrial disease
- 2018
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 27:10, s. 1743-1753
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Tidskriftsartikel (refereegranskat)abstract
- LonP1 is a mitochondrial matrix protease whose selective substrate specificity is essential for maintaining mitochondrial homeostasis. Recessively inherited, pathogenic defects in LonP1 have been previously reported to underlie cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome, a complex multisystemic and developmental disorder. Intriguingly, although classical mitochondrial disease presentations are well-known to exhibit marked clinical heterogeneity, the skeletal and dental features associated with CODAS syndrome are pathognomonic. We have applied whole exome sequencing to a patient with congenital lactic acidosis, muscle weakness, profound deficiencies in mitochondrial oxidative phosphorylation associated with loss of mtDNA copy number and MRI abnormalities consistent with Leigh syndrome, identifying biallelic variants in the LONP1 (NM_004793.3) gene; c.1693T > C predicting p.(Tyr565His) and c.2197G > A predicting p.(Glu733Lys); no evidence of the classical skeletal or dental defects observed in CODAS syndrome patients were noted in our patient. In vitro experiments confirmed the p.(Tyr565His) LonP1 mutant alone could not bind or degrade a substrate, consistent with the predicted function of Tyr565, whilst a second missense [p.(Glu733Lys)] variant had minimal effect. Mixtures of p.(Tyr565His) mutant and wild-type LonP1 retained partial protease activity but this was severely depleted when the p.(Tyr565His) mutant was mixed with the p.(Glu733Lys) mutant, data consistent with the compound heterozygosity detected in our patient. In summary, we conclude that pathogenic LONP1 variants can lead to a classical mitochondrial disease presentations associated with severe biochemical defects in oxidative phosphorylation in clinically relevant tissues.
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| 34. |
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| 35. |
- Svensson, C. E., et al.
(författare)
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Decay Out of the Doubly Magic Superdeformed Band in the N=Z Nucleus 60Zn
- 1999
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Ingår i: Physical Review Letters. - 1079-7114. ; 82:17, s. 3400-3403
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Tidskriftsartikel (refereegranskat)abstract
- The doubly magic superdeformed band in the N = Z nucleus Zn-60 has been identified. Linking transitions connecting this band to the yrast line provide the first spin, parity, and excitation energy measurements for superdeformed states in the A similar to 60 region. The stretched-E2 character and relatively large B(E2) values of these transitions suggest a nonstatistical decay-out process.
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| 36. |
- Svensson, C. E., et al.
(författare)
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Observation and Quadrupole Moment Measurement of the First Superdeformed Band in the A~60 Mass Region
- 1997
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Ingår i: Physical Review Letters. - 1079-7114. ; 79:7, s. 1233-1236
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Tidskriftsartikel (refereegranskat)abstract
- A high-spin rotational cascade of six gamma rays has been observed in Zn-62. The quadrupole moment of 2.7(-0.5)(+0.7) e b measured for this band corresponds to a deformation beta(2) = 0.45(-0.07)(+0.10). The properties of this band are in excellent agreement with calculations that predict high-spin superdeformed bands in Zn-62 with deformations beta(2) = 0.41-0.49. These results establish a new region of superdeformation for nuclei with neutron and proton numbers N, Z approximate to 30-32.
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| 37. |
- Svensson, C. E., et al.
(författare)
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Smooth Termination of Rotational Bands in 62Zn: Evidence for a Loss of Collectivity
- 1998
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Ingår i: Physical Review Letters. - 1079-7114. ; 80:12, s. 2558-2561
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Tidskriftsartikel (refereegranskat)abstract
- Two sets of strongly coupled rotational bands have been identified in Zn-62. These bands have been observed up to the terminating states of their respective configurations. Lifetime measurements indicate that the transition quadrupole moments in these bands decrease as termination is approached. These results establish the first terminating states of rotational bands in the A similar to 60 mass region and confirm the predicted loss of collectivity associated with smooth band termination.
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| 38. |
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| 39. |
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| 40. |
- Ward, D., et al.
(författare)
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Band Structure of 68Ge
- 2001
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 63:1
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Tidskriftsartikel (refereegranskat)abstract
- The nucleus Ge-68 has been studied by gamma-ray spectroscopy following its population at high spin in the reaction Ca-40(S-32,4p) Ge-68. The reaction channel was selected with the Microball array and gamma rays were detected with the Gammasphere array. The level scheme is very complex, reflecting the many different, and presumably mixed, excitation modes in this nucleus. Nevertheless, there appear to be some simplifications in the spin range above 18 (h) over bar where we have identified a superdeformed band and several terminating bands. The results are compared with a cranked Nilsson-Strutinsky model without pairing.
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| 41. |
- Yu, C. H., et al.
(författare)
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Comparison of Superdeformed Bands in 61Zn and 60Zn: Possible Evidence for T=0 Pairing
- 1999
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 60:3
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Tidskriftsartikel (refereegranskat)abstract
- The yrast superdeformed band in Zn-61 has been established using Si-28(Ar-36, 2pn)Zn-61 and Ca-40(Si-29, 2 alpha)Zn-61 fusion-evaporation reactions. The excitation energy of this band was determined via two transitions that link this band to the normally deformed states. Lifetime analysis of this band resulted in a quadrupole moment of Q(t) = 3.0 +/- (0.5)(0.4)e b, which corresponds to a deformation of beta(2) = 0.50+/-(0.07)(0.06). A comparison of the J((2)) dynamical moments of inertia of the yrast superdeformed band in Zn-61 with those in Zn-60 shows a nearly complete blocking of the observed alignment in Zn-60, indicating that T=0 proton-neutron pair correlations may be present in Zn-60. [S0556-2813(99)51109-6].
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| 42. |
- Yu, C. H., et al.
(författare)
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Superdeformed and Highly Deformed Bands in 65Zn and Neutron-proton Interactions in Zn Isotopes
- 2000
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 62:4
-
Tidskriftsartikel (refereegranskat)abstract
- Superdeformed and highly deformed rotational bands were established in Zn-65 using the Ca-40(Si-29,4p)Zn-65 reaction, and averaged quadrupole moments were measured for two of these bands. The configurations of these bands were assigned based on Hartree-Fock calculations. One of the three bands exhibits at low (h) over bar omega a rise in the J((2)) dynamic moments of inertia that is similar to the alignment gain observed in Zn-60. A comparison of the rotational band configurations and their J((2)) moments of inertia for light Zn isotopes suggests that the rise in J((2)) is most likely caused by np interactions associated with the valence protons and neutrons occupying the g(9/2) intruder orbits.
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