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- Aad, G, et al.
(författare)
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- 2015
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swepub:Mat__t
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| 4. |
- Batistoni, P., et al.
(författare)
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Technological exploitation of Deuterium-Tritium operations at JET in support of ITER design, operation and safety
- 2016
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Ingår i: Fusion engineering and design. - : ELSEVIER SCIENCE SA. - 0920-3796 .- 1873-7196. ; 109, s. 278-285
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Tidskriftsartikel (refereegranskat)abstract
- Within the framework of the EUROfusion programme, a work-package of technology projects (WPJET3) is being carried out in conjunction with the planned Deuterium-Tritium experiment on JET (DTE2) with the objective of maximising the scientific and technological return of DT operations at JET in support of ITER. This paper presents the progress since the start of the project in 2014 in the preparatory experiments, analyses and studies in the areas of neutronics, neutron induced activation and damage in ITER materials, nuclear safety, tritium retention, permeation and outgassing, and waste production in preparation of DTE2.
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| 5. |
- Langefeld, Carl D., et al.
(författare)
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Transancestral mapping and genetic load in systemic lupus erythematosus
- 2017
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (similar to 50% of these regions have multiple independent associations); these include 24 novel SLE regions (P < 5 x 10(-8)), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing results across the three ancestries identifies both ancestry-dependent and ancestry-independent contributions to SLE risk. Our results are consistent with the unique and complex histories of the populations sampled, and collectively help clarify the genetic architecture and ethnic disparities in SLE.
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| 6. |
- Lengar, Igor, et al.
(författare)
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Radiation damage and nuclear heating studies in selected functional materials during the JET DT campaign
- 2016
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Ingår i: Fusion engineering and design. - : Elsevier. - 0920-3796 .- 1873-7196. ; 109, s. 1011-1015
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Tidskriftsartikel (refereegranskat)abstract
- A new Deuterium-Tritium campaign (DTE2) is planned at JET in the next years, with a proposed 14 MeV neutron budget of 1.7 x 10(21), which is nearly an order of magnitude higher than any previous DT campaigns. The neutron and gamma ray fields inside the JET device during DT plasma operations at specific locations have previously been evaluated. It is estimated that a total neutron fluence on the first wall of JET of up to 10(20) n/m(2) could be achieved, which is comparable to the fluence occurring in ITER at the end of life in the rear part of the port plug, where several diagnostic components will be located. The purpose of the present work is to evaluate the radiation damage and nuclear heating in selected functional materials to be irradiated at JET during DT plasma operation. These quantities are calculated with the use of the MCNP6 code and the FISPACT II code. In particular the neutron and gamma ray fields at specific locations inside the JET device, dedicated to material damage studies, were characterized. The emphasis is on a potential longterm irradiation station located close to the first wall at outboard midplane, offering the opportunity to irradiate samples of functional materials used in ITER diagnostics, to assess the degradation of the physical properties. The radiation damage and the nuclear heating were calculated for selected materials irradiated in these positions and for the neutron flux and fluence expected in DTE2. The studied candidate functional materials include, among others, Sapphire, YAG, ZnS, Spinel, Diamond. In addition the activation of the internal irradiation holder itself was calculated with FISPACT. Damage levels in the range of 10(-5) dpa were found. 2016 EURATOM.
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| 7. |
- Nohalez, A., et al.
(författare)
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Factors of importance when selecting sows as embryo donors
- 2017
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Ingår i: Animal. - : CAMBRIDGE UNIV PRESS. - 1751-7311 .- 1751-732X. ; 11:8, s. 1330-1335
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Tidskriftsartikel (refereegranskat)abstract
- The improvement in porcine embryo preservation and non-surgical embryo transfer (ET) procedures achieved in recent years represents essential progress for the practical use of ET in the pig industry. This study aimed to evaluate the effects of parity, weaning-to-estrus interval (WEI) and season on reproductive and embryonic parameters at day 6 after insemination of donor sows superovulated after weaning. The selection of donor sows was based on their reproductive history, body condition and parity. The effects of parity at weaning (2 to 3, 4 to 5 or 6 to 7 litters), season (fall, winter and spring), and WEI (estrus within 3 to 4 days), and their interactions on the number of corpus luteum, cysts in sows with cysts, number and quality of viable and transferable embryos, embryo developmental stage and recovery and fertilization rates were evaluated using linear mixed effects models. The analyses showed a lack of significant effects of parity, season, WEI or their interactions on any of the reproductive and embryonic parameters examined. In conclusion, these results demonstrate that fertilization rates and numbers of viable and transferable embryos collected at day 6 of the cycle from superovulated donor sows are not affected by their parity, regardless of the time of the year (from fall to spring) and WEI (3 or 4 days).
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| 8. |
- Alberts, R, et al.
(författare)
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Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis
- 2018
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Ingår i: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 67:8, s. 1517-1524
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Tidskriftsartikel (refereegranskat)abstract
- Primary sclerosing cholangitis (PSC) is a genetically complex, inflammatory bile duct disease of largely unknown aetiology often leading to liver transplantation or death. Little is known about the genetic contribution to the severity and progression of PSC. The aim of this study is to identify genetic variants associated with PSC disease progression and development of complications.DesignWe collected standardised PSC subphenotypes in a large cohort of 3402 patients with PSC. After quality control, we combined 130 422 single nucleotide polymorphisms of all patients—obtained using the Illumina immunochip—with their disease subphenotypes. Using logistic regression and Cox proportional hazards models, we identified genetic variants associated with binary and time-to-event PSC subphenotypes.ResultsWe identified genetic variant rs853974 to be associated with liver transplant-free survival (p=6.07×10–9). Kaplan-Meier survival analysis showed a 50.9% (95% CI 41.5% to 59.5%) transplant-free survival for homozygous AA allele carriers of rs853974 compared with 72.8% (95% CI 69.6% to 75.7%) for GG carriers at 10 years after PSC diagnosis. For the candidate gene in the region, RSPO3, we demonstrated expression in key liver-resident effector cells, such as human and murine cholangiocytes and human hepatic stellate cells.ConclusionWe present a large international PSC cohort, and report genetic loci associated with PSC disease progression. For liver transplant-free survival, we identified a genome-wide significant signal and demonstrated expression of the candidate gene RSPO3 in key liver-resident effector cells. This warrants further assessments of the role of this potential key PSC modifier gene.
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| 10. |
- Kottyan, Leah C., et al.
(författare)
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The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.
- 2015
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 24:2, s. 582-596
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Tidskriftsartikel (refereegranskat)abstract
- Exploiting genotyping, DNA sequencing, imputation and trans-ancestral mapping, we used Bayesian and frequentist approaches to model the IRF5-TNPO3 locus association, now implicated in two immunotherapies and seven autoimmune diseases. Specifically, in systemic lupus erythematosus (SLE), we resolved separate associations in the IRF5 promoter (all ancestries) and with an extended European haplotype. We captured 3230 IRF5-TNPO3 high-quality, common variants across 5 ethnicities in 8395 SLE cases and 7367 controls. The genetic effect from the IRF5 promoter can be explained by any one of four variants in 5.7 kb (P-valuemeta = 6 × 10(-49); OR = 1.38-1.97). The second genetic effect spanned an 85.5-kb, 24-variant haplotype that included the genes IRF5 and TNPO3 (P-valuesEU = 10(-27)-10(-32), OR = 1.7-1.81). Many variants at the IRF5 locus with previously assigned biological function are not members of either final credible set of potential causal variants identified herein. In addition to the known biologically functional variants, we demonstrated that the risk allele of rs4728142, a variant in the promoter among the lowest frequentist probability and highest Bayesian posterior probability, was correlated with IRF5 expression and differentially binds the transcription factor ZBTB3. Our analytical strategy provides a novel framework for future studies aimed at dissecting etiological genetic effects. Finally, both SLE elements of the statistical model appear to operate in Sjögrens syndrome and systemic sclerosis whereas only the IRF5-TNPO3 gene-spanning haplotype is associated with primary biliary cirrhosis, demonstrating the nuance of similarity and difference in autoimmune disease risk mechanisms at IRF5-TNPO3.
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