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- de Rojas, I., et al.
(författare)
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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
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| 4. |
- Kattge, Jens, et al.
(författare)
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TRY plant trait database - enhanced coverage and open access
- 2020
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Ingår i: Global Change Biology. - : Wiley-Blackwell. - 1354-1013 .- 1365-2486. ; 26:1, s. 119-188
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Tidskriftsartikel (refereegranskat)abstract
- Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives.
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| 5. |
- Jansen, Iris E, et al.
(författare)
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Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers.
- 2022
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Ingår i: Acta neuropathologica. - : Springer Science and Business Media LLC. - 1432-0533 .- 0001-6322. ; 144:5, s. 821-842
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Tidskriftsartikel (refereegranskat)abstract
- Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer's disease (AD) more directly than clinical diagnosis. Initiated by the European Alzheimer & Dementia Biobank (EADB), the largest collaborative effort on genetics underlying CSF biomarkers was established, including 31 cohorts with a total of 13,116 individuals (discovery n=8074; replication n=5042 individuals). Besides the APOE locus, novel associations with two other well-established AD risk loci were observed; CR1 was shown a locus for Aβ42 and BIN1 for pTau. GMNC and C16orf95 were further identified as loci for pTau, of which the latter is novel. Clustering methods exploring the influence of all known AD risk loci on the CSF protein levels, revealed 4 biological categories suggesting multiple Aβ42 and pTau related biological pathways involved in the etiology of AD. In functional follow-up analyses, GMNC and C16orf95 both associated with lateral ventricular volume, implying an overlap in genetic etiology for tau levels and brain ventricular volume.
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| 6. |
- Leguillon, R., et al.
(författare)
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High-spin spectroscopy of Nd-140
- 2013
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 88:1
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Tidskriftsartikel (refereegranskat)abstract
- The population of the high-spin states in Nd-140 was investigated using the reaction Zr-96(Ca-48,4n). The results from two experiments, one with the EUROBALL array and one with the JUROGAM II + RITU + GREAT setup employing the recoil decay tagging technique, have been combined to develop a very detailed level scheme for Nd-140. Twelve bands of quadrupole transitions and eleven bands of dipole transitions were identified and their connections to low-lying states were established. Calculations using the cranked Nilsson-Strutinsky and the tilted axis cranking models were used to interpret the observed structures. The overall good agreement between the experimental results and the calculations assuming a triaxial shape of the nucleus strongly support the existence of a stable triaxial shape at high spins in this mass region.
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| 8. |
- Gorska, M., et al.
(författare)
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Nuclear Structure far off Stability - RISING Campaigns
- 2007
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Ingår i: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 38:4, s. 1219-1228
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Tidskriftsartikel (refereegranskat)abstract
- Nuclear structure studies at CST attracted recently increased interest for the results of present activities as well as for the future project FAIR. A broad range of physics phenomena can be addressed by high-resolution in-beam gamma-ray spectroscopy experiments with radioactive beams offered within the Rare Isotopes Spectroscopic INvestigation at GSI (RISING) project. It combined the EUROBALL Ge-Cluster detectors, the MINIBALL Ce detectors, the HECTOR-BaF detectors, and the fragment separator FRS. The secondary beams produced at relativistic energies were used for Coulomb excitation or secondary fragmentation experiments to study projectile like nuclei by measuring de-excitation photons. The first results of the "fast beam campaign" is discussed in comparison to various shell model calculations. The discussion focuses on the N = 32, 34 sub-shell closure based on neutron rich Cr isotopes. Alternatively, the relativistic radioactive beams, both in their ground and isomeric states, were implanted and their decay could be investigated. The "stopped beam campaign" has started in October 2005 with a series of g-factor measurements. It continued from February 2006 with the next, configuration and the main goal of identification of new isomers and angular momentum population in fragmentation reactions.
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| 9. |
- Magallon, D, et al.
(författare)
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European expert network for the reduction of uncertainties in severe accident safety issues (EURSAFE)
- 2005
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Ingår i: Nuclear Engineering and Design. - : Elsevier BV. - 0029-5493 .- 1872-759X. ; 235:2-4, s. 309-346
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Tidskriftsartikel (refereegranskat)abstract
- EURSAFE thematic network was a concerted action in the sixth framework programme of the European Commission. It established a large consensus among the main actors in nuclear safety on the severe accident issues where large uncertainties still subsist. The conclusions were derived from a first-of-kind phenomena identification and ranking tables (PIRT) on all aspects of severe accident also realised in the frame of the project. Starting from a list of all severe accident phenomena containing approximately 1000 entries and established by the twenty partner organisations, 106 phenomena were retained eventually as both important for safety and still lacking sufficient knowledge. Ultimately, 21 research areas for addressing these phenomena regrouped according to their similarities were identified. A networking structure for implementing and executing the necessary research was proposed, which promotes integration and harmonisation of the different national programmes. A severe accident database structure was proposed to ensure preservation of experimental data and enhanced communication for data exchange and use for severe accident codes assessment. The final product, named EURSAFE, is a website network, http://asa2.jrc.it/eursafe, connecting nodes located at partner sites. As the result of an action involving R&D governmental institutions, regulatory bodies, nuclear industry, utilities and universities from six EU Member States (Finland, France, Germany, Spain, Sweden, UK) plus JRC, three European third countries (Czech Republic, Hungary, Switzerland), and USA, EURSAFE represents a significant step towards harmonisation and credibility of the approaches, and resolution of the remaining severe accident issues.
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| 10. |
- Buck, M., et al.
(författare)
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The LIVE program : Results of test L1 and joint analyses on transient molten pool thermal hydraulics
- 2010
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Ingår i: Progress in nuclear energy (New series). - : Elsevier BV. - 0149-1970 .- 1878-4224. ; 52:1, s. 46-60
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Tidskriftsartikel (refereegranskat)abstract
- The development of a corium pool in the lower head and its behaviour is still a critical issue. This concerns, in general, the understanding of a severe accident with core melting, its course, major critical phases and timing, and the influence of these processes on the accident progression as well as, in particular, the evaluation of in-vessel melt retention by external vessel flooding as an accident mitigation strategy. Previous studies were especially related to the in-vessel retention question and often just concentrated on the quasi-steady state behaviour of a large molten pool in the lower head, considered as a bounding configuration. However, non-feasibility of the in-vessel retention concept for high power density reactors and uncertainties e.g. due to layering effects even for low or medium power reactors, turns this to be insufficient. Rather, it is essential to consider the whole evolution of the accident, including e.g. formation and growth of the in-core melt pool, characteristics of corium arrival in the lower head, and molten pool behaviour after the debris re-melting. These phenomena have a strong impact on a potential termination of a severe accident. The general objective of the LIVE program at FZK is to study these phenomena resulting from core melting experimentally in large-scale 3D geometry and in supporting separate-effects tests, with emphasis on the transient behaviour. Up to now, several tests on molten pool behaviour have been performed within the LIVE experimental program with water and with non-eutectic melts (KNO3-NaNO3) as simulant fluids. The results of these experiments, performed in nearly adiabatic and in isothermal conditions, allow a direct comparison with findings obtained earlier in other experimental programs (SIMECO, ACOPO, BALI, etc.) and will be used for the assessment of the correlations derived for the molten pool behaviour. Complementary to other international programs with real corium melts, the results of the LIVE activities also provide data for a better understanding of in-core corium pool behaviour. The experimental results are being used for the development and validation of mechanistic models for the description of molten pool behaviour, In the present paper, a range of different models is used for post-test calculations and comparative analyses. This includes simplified, but fast running models implemented in the severe accident codes ASTEC and ATHLET-CD. Further, a computational tool developed at KTH (PECM model implemented in Fluent) is applied. These calculations are complemented by analyses with the CFD code CONV (thermal hydraulics of heterogeneous, viscous and heat-generating melts) which was developed at IBRAE (Nuclear Safety Institute of Russian Academy) within the RASPLAV project and was further improved within the ISTC 2936 Project.
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