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| 2. |
- 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. |
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| 7. |
- Olsson, A, et al.
(författare)
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Measurement of alpha- and beta-secretase cleaved amyloid precursor protein in cerebrospinal fluid from Alzheimer patients
- 2003
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Ingår i: Experimental Neurology. - 0014-4886. ; 183, s. 74-
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Tidskriftsartikel (refereegranskat)abstract
- One of the major histopathological hallmarks of Alzheimer's disease (AD) is redundant senile plaques mainly composed of beta-amyloid (Abeta) aggregates. Alternative cleavage of the amyloid precursor protein (APP), occurring in both normal and AD subjects, results in the generation and secretion of soluble APP (sAPP) and Abeta. We examined the cerebrospinal fluid (CSF) for alpha- and beta-secretase cleaved sAPP (alpha-sAPP and beta-sAPP) in 81 sporadic AD patients, 19 patients with mild cognitive impairment, and 42 healthy controls by using newly developed sandwich enzyme-linked immunosorbent assay methods. We found that neither the level of CSF-alpha-sAPP nor CSF-beta-sAPP differed between sporadic AD patients and healthy controls. These findings further support the conclusion that there is no change in APP expression in sporadic AD. However, the level of CSF-beta-sAPP was significantly increased in patients with mild cognitive impairment compared to controls. We also investigated the relationship between the CSF level of alphabeta-sAPP and Abeta(42) and the apoE epsilon4 (apoFA.) allele. Significantly lower levels of CSF-alpha-sAPP were found in AD patients possessing one or two apoE4 alleles than in those not possessing the apoE4 allele. Neither the levels of CSF-beta-sAPP nor CSF-Abeta(42) differed when comparing ApoE4 allele-positive with allele-negative individuals. (C) 2003 Elsevier Science (USA). All rights reserved.
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| 13. |
- Johansson, A, et al.
(författare)
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Increased frequency of a new polymorphism in the cycle 2 (cdc2) gene in patients with Alzheimer's disease frontotemporal dementia
- 2003
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Ingår i: Neuroscience Letters. - 0304-3940. ; 340:1, s. 69-73
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Tidskriftsartikel (refereegranskat)abstract
- Recent studies show linkage between Alzheimer's disease (AD) and two loci on chromosome 10. The cell division cycle 2 (cdc2) gene is located close to one of the chromosome 10 markers, and is a candidate gene for AD since it is involved in the pathogenesis of AD. We sequenced coding exons and flanking intronic sequences and the promoter region on the cdc2 gene and found three new single nucleotide polymorphisms (SNPs). We analyzed 272 Caucasian AD cases, 160 controls and 70 cases with frontotemporal dementia (FTD) for these SNPs. Homozygosity for one of the SNPs (Ex6 + 7I/D) was more frequent in both AD and FTD cases than in controls. In the combined tauopathy (AD and FTD) group the odds ratio (OR) was 1.77 (95% CI 1.19-2.63) for the Ex6 + 7II genotype. Our findings suggest that the Ex6 + 7I allele is associated with tauopathies, both AD and FrD. (C) 2003 Elsevier Science Ireland Ltd. All rights reserved.
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| 14. |
- 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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| 15. |
- 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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| 16. |
- Nag, Somnath, et al.
(författare)
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Collective and noncollective states in (120)Te
- 2012
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 85:1
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Tidskriftsartikel (refereegranskat)abstract
- High-spin states in (120)Te were populated in the reaction (80)Se((48)Ca, alpha 4n)(120)Te at a beam energy of 207 MeV and gamma-ray coincidences were measured using the Gammasphere spectrometer. The previously known level scheme is extended to higher spin and new interband transitions and side-feeding branches are established. Five highly deformed rotational bands, extending up to almost I = 50, are observed for the first time. The bands are compared with similar structures found recently in neighboring nuclei. The experimental results are interpreted within the framework of the cranked Nilsson-Strutinsky model. Configuration assignments to several terminating states and to the high-spin bands are discussed.
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| 17. |
- Nag, Somnath, et al.
(författare)
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Revised level structure of Te-120
- 2014
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 90:3
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Tidskriftsartikel (refereegranskat)abstract
- The level scheme of the nucleus Te-120, populated in the reaction Se-80(Ca-48, alpha 4n), was reinvestigated using gamma-ray coincidence data measured with the Gammasphere spectrometer. Previously, five high-spin rotational bands were discovered in this nucleus. The present reinvestigation revealed that the decay of band b1 is more complex than suggested in the earlier work and that it cannot be uniquely determined. Furthermore, a number of new transitions are added to the level scheme. The implications for the spin assignments and excitation energies of the five bands and for comparisons with cranked Nilsson-Strutinsky calculations are discussed.
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| 18. |
- Singh, Purnima, et al.
(författare)
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Core excitations beyond maximally aligned configurations in I-123
- 2012
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 85:3
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Tidskriftsartikel (refereegranskat)abstract
- High-spin states in I-123 have been populated in the Se-80(Ca-48, p4n) I-123 reaction at 207 MeV and gamma-ray coincidence events have been recorded with the Gammasphere spectrometer. The level scheme of I-123 has been extended up to spin I = 63/2. The nucleus undergoes a shape transition from moderately deformed states with collective rotation at low spins to noncollective oblate configurations at higher spins. Maximally aligned terminating states involving all nine particles outside the Sn-114 core and states with one particle antialigned are identified. A large number of weak transitions feed the terminating states. Cranked Nilsson-Strutinsky calculations have been performed to determine possible configurations for the observed energy levels.
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| 19. |
- Singh, Purnima, et al.
(författare)
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High-spin rotational bands in I-123
- 2012
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 86:6
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Tidskriftsartikel (refereegranskat)abstract
- High-spin states in I-123 were populated in the reaction Se-80(Ca-48,p4n)I-123 at a beam energy of 207 MeV and gamma-ray coincidence events were measured using the Gammasphere spectrometer. Three weakly populated, high-spin rotational bands have been discovered with characteristics similar to those of the long collective bands recently observed in other nuclei of this mass region. Configuration assignments are proposed based on calculations within the framework of the cranked Nilsson-Strutinsky approach. DOI: 10.1103/PhysRevC.86.067305
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| 20. |
- Zerrouki, T., et al.
(författare)
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Shape evolution and magnetic rotation in Nd-141
- 2015
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Ingår i: European Physical Journal A. Hadrons and Nuclei. - : Springer Science and Business Media LLC. - 1434-6001. ; 51:4
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Tidskriftsartikel (refereegranskat)abstract
- The high-spin states in Nd-141 were investigated using the Zr-96(Ca-48, 3n) reaction and the EU-ROBALL array. The level scheme has been extended up to an excitation energy of around 16MeV and spin 81/2. Two new bands of dipole transitions and three bands presumably of quadrupole transitions were identified and their connections to low-lying states were established. Cranked Nilsson-Strutinsky and tilted axis cranking calculations are combined in the interpretation of the observed dipole bands. The high-spin bands with assigned quadrupole transitions are interpreted as triaxial bands, while the dipole bands appear in the calculations to exhibit a shape evolution from low-deformation triaxial to spherical shape. They can be classified as magnetic rotation, with transition probabilities that show the characteristic decrease with angular momentum caused by the shears mechanism.
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| 21. |
- Bhowal, S., et al.
(författare)
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Development of collective structures over noncollective excitations in Nd-139
- 2011
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 84:2
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Tidskriftsartikel (refereegranskat)abstract
- High-spin states in Nd-139 were investigated using the reaction Zr-96(Ca-48,5n) at a beam energy of 195 MeV and gamma-ray coincidences were acquired with the Euroball spectrometer. Apart from several dipole bands at medium excitation energy, three quadrupole bands have been observed at high spin. Linking transitions connecting two of the high-spin bands to low-energy states have been observed. Calculations based on the cranked-Nilsson-Strutinsky formalism have been used to assign configurations for the high-spin quadrupole bands.
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| 22. |
- Buerger, M., et al.
(författare)
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Coolability of particulate beds in severe accidents : Status and remaining uncertainties
- 2010
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Ingår i: Progress in nuclear energy (New series). - : Elsevier BV. - 0149-1970 .- 1878-4224. ; 52:1, s. 61-75
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Tidskriftsartikel (refereegranskat)abstract
- Particulate debris beds may form during different stages of a severe core melt accident; e.g. in the degrading hot core, due to thermal stresses during reflooding, in the lower plenum, by melt flow from the core into water in the lower head, and in the cavity by melt flow out of a failing RPV into a wet cavity. Deep water pools in the cavity are used in Nordic BWRs as an accident management measure aiming at particulate debris formation and coolability. It has been elaborated in the joint work of the European Severe Accident Research Network (SARNET) in Work Package (WP) 11.1 that coolability of particulate debris, reflooding of hot debris as well as boil-off under decay heat (long-term coolability), is strongly favoured by 2D/3D effects in beds with non-homogeneous structure and shape. Especially, water inflow from the sides and via bottom regions strongly improves coolability as compared to 1D situations with top flooding, the latter being in the past the basis of analyses on coolability. Data from experiments included in the SARNET network (DEBRIS at IKE and STYX at VTT) and earlier ones (e.g. POMECO at KTH) have been used to validate key constitutive laws in 2D codes as WABE (IKE) and ICARE/CATHARE (IRSN), especially concerning flow friction and heat transfer. Major questions concern the need of the explicit use of interfacial friction to adequately treat the various flow situations in a unified approach, as well as the adequate characterization of realistic debris composed of irregularly shaped particles of different sizes. joint work has been supported by transfer of the WABE code to KTH and VTT. Concerning realistic debris, the formation from breakup of melt jets in water is investigated in the DEFOR experiments at KTH. Present results indicate that porosities in the debris might be much higher than previously assumed, which would strongly support attainment of coolability. Calculations have been performed with IKEJET/IKEMIX describing jet breakup, mixing and settling of resulting particles. Models about debris bed formation and porosity are developed at KTH. The codes have been applied to reactor conditions for analysing the potential for coolability in the different phases of a severe accident. Calculations have been performed with WABE (MEWA) implemented in ATHLET-CD and with ICARE/ICATHARE for degraded cores and debris beds in the lower plenum, under reflooding and boil-off. Ex-vessel situations have also been analysed. Strong effects of lateral water inflow and cooling by steam in hot areas have been demonstrated. In support, some typical basic configurations have been analysed, e.g. configurations with downcomers considered as possible AM measures. Melt pool formation or coolability of particulate debris is a major issue concerning melt retention in the core and the lower head. Present conclusions from those analyses for adequate modelling in ASTEC are outlined as well as remaining uncertainties. Experimental and analysis efforts and respective continued joint actions are discussed, which are needed to reach resolution of the coolability issue.
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| 25. |
- Johansson, Annica, 1969, et al.
(författare)
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Increased frequency of a new polymorphism in the cell division cycle 2 (cdc2) gene in patients with Alzheimer's disease and frontotemporal dementia.
- 2003
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Ingår i: Neuroscience letters. - : Elsevier BV. - 0304-3940. ; 340:1, s. 69-73
-
Tidskriftsartikel (refereegranskat)abstract
- Recent studies show linkage between Alzheimer's disease (AD) and two loci on chromosome 10. The cell division cycle 2 (cdc2) gene is located close to one of the chromosome 10 markers, and is a candidate gene for AD since it is involved in the pathogenesis of AD. We sequenced coding exons and flanking intronic sequences and the promoter region on the cdc2 gene and found three new single nucleotide polymorphisms (SNPs). We analyzed 272 Caucasian AD cases, 160 controls and 70 cases with frontotemporal dementia (FTD) for these SNPs. Homozygosity for one of the SNPs (Ex6+7I/D) was more frequent in both AD and FTD cases than in controls. In the combined tauopathy (AD and FTD) group the odds ratio (OR) was 1.77 (95% CI 1.19-2.63) for the Ex6+7II genotype. Our findings suggest that the Ex6+7I allele is associated with tauopathies, both AD and FTD.
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