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| 2. |
- Barrow, Joshua, et al.
(författare)
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Computing and Detector Simulation Framework for the HIBEAM/NNBAR Experimental Program at the ESS
- 2021
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Ingår i: 25<sup>th</sup> International Conference on Computing in High Energy and Nuclear Physics (CHEP 2021). - : EDP Sciences.
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Konferensbidrag (refereegranskat)abstract
- The HIBEAM/NNBAR program is a proposed two-stage experiment at the European Spallation Source focusing on searches for baryon number violation via processes in which neutrons convert to antineutrons. This paper outlines the computing and detector simulation framework for the HIBEAM/NNBAR program. The simulation is based on predictions of neutron flux and neutronics together with signal and background generation. A range of diverse simulation packages are incorporated, including Monte Carlo transport codes, neutron ray-tracing simulation packages, and detector simulation software. The common simulation package in which these elements are interfaced together is discussed. Data management plans and triggers are also described.
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| 3. |
- Gudkov, Vladimir, et al.
(författare)
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A Possible Neutron-Antineutron Oscillation Experiment at PF1B at the Institut Laue Langevin
- 2021
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Ingår i: Symmetry. - : MDPI AG. - 2073-8994. ; 13:12
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Tidskriftsartikel (refereegranskat)abstract
- We consider a possible neutron–antineutron (n−n¯) oscillation experiment at the PF1B instrument at Institut Laue Langevin. It can improve the best existing constraint on the transition rate and also allow the testing of the methods and instrumentation which would be needed for a later larger-scale experiment at ESS. The main gain factors over the most competitive experiment, performed earlier at PF1 instrument at ILL, are: a more intense neutron beam and a new operating mode based on coherent n and n¯ mirror reflections. The installation of such an experiment would need a temporary replacement of the existing ballistic neutron guide by a specially designed n/n¯ guide with a gradually increasing cross section and a specially selected coating as well as the development and construction of an advanced n¯ annihilation detector with a high efficiency and low background. The overall gain factor could reach up to an order of magnitude and depends on the chosen experiment configuration.
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| 4. |
- Salvi, Erika, et al.
(författare)
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Genomewide Association Study Using a High-Density Single Nucleotide Polymorphism Array and Case-Control Design Identifies a Novel Essential Hypertension Susceptibility Locus in the Promoter Region of Endothelial NO Synthase.
- 2012
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Ingår i: Hypertension. - 1524-4563. ; 59:2, s. 248-248
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Tidskriftsartikel (refereegranskat)abstract
- Essential hypertension is a multifactorial disorder and is the main risk factor for renal and cardiovascular complications. The research on the genetics of hypertension has been frustrated by the small predictive value of the discovered genetic variants. The HYPERGENES Project investigated associations between genetic variants and essential hypertension pursuing a 2-stage study by recruiting cases and controls from extensively characterized cohorts recruited over many years in different European regions. The discovery phase consisted of 1865 cases and 1750 controls genotyped with 1M Illumina array. Best hits were followed up in a validation panel of 1385 cases and 1246 controls that were genotyped with a custom array of 14 055 markers. We identified a new hypertension susceptibility locus (rs3918226) in the promoter region of the endothelial NO synthase gene (odds ratio: 1.54 [95% CI: 1.37-1.73]; combined P=2.58 · 10(-13)). A meta-analysis, using other in silico/de novo genotyping data for a total of 21 714 subjects, resulted in an overall odds ratio of 1.34 (95% CI: 1.25-1.44; P=1.032 · 10(-14)). The quantitative analysis on a population-based sample revealed an effect size of 1.91 (95% CI: 0.16-3.66) for systolic and 1.40 (95% CI: 0.25-2.55) for diastolic blood pressure. We identified in silico a potential binding site for ETS transcription factors directly next to rs3918226, suggesting a potential modulation of endothelial NO synthase expression. Biological evidence links endothelial NO synthase with hypertension, because it is a critical mediator of cardiovascular homeostasis and blood pressure control via vascular tone regulation. This finding supports the hypothesis that there may be a causal genetic variation at this locus.
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| 5. |
- Wuttke, Matthias, et al.
(författare)
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A catalog of genetic loci associated with kidney function from analyses of a million individuals
- 2019
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Ingår i: Nature Genetics. - : NATURE PUBLISHING GROUP. - 1061-4036 .- 1546-1718. ; 51:6, s. 957-972
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Tidskriftsartikel (refereegranskat)abstract
- Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
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