| 1. |
- Walters, R G, et al.
(författare)
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 463:7281, s. 671-5
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Tidskriftsartikel (refereegranskat)abstract
- Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous single nucleotide polymorphisms associated with obesity, but these loci together account for only a small fraction of the known heritable component. Thus, the 'common disease, common variant' hypothesis is increasingly coming under challenge. Here we report a highly penetrant form of obesity, initially observed in 31 subjects who were heterozygous for deletions of at least 593 kilobases at 16p11.2 and whose ascertainment included cognitive deficits. Nineteen similar deletions were identified from GWAS data in 16,053 individuals from eight European cohorts. These deletions were absent from healthy non-obese controls and accounted for 0.7% of our morbid obesity cases (body mass index (BMI) >or= 40 kg m(-2) or BMI standard deviation score >or= 4; P = 6.4 x 10(-8), odds ratio 43.0), demonstrating the potential importance in common disease of rare variants with strong effects. This highlights a promising strategy for identifying missing heritability in obesity and other complex traits: cohorts with extreme phenotypes are likely to be enriched for rare variants, thereby improving power for their discovery. Subsequent analysis of the loci so identified may well reveal additional rare variants that further contribute to the missing heritability, as recently reported for SIM1 (ref. 3). The most productive approach may therefore be to combine the 'power of the extreme' in small, well-phenotyped cohorts, with targeted follow-up in case-control and population cohorts.
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| 2. |
- Enblad P., Frykholm P., Valtysson J., Silander H C., Andersson J., Fasth K J., Watanabe Y., Långström B., Hillered L., Persson L.
(författare)
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Middle cerebral artery occlusion and reperfusion in primates monitored by microdialysis and sequential positron emission tomography
- 2001
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Ingår i: Stroke. ; :32 (7), s. 1574-80
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Tidskriftsartikel (refereegranskat)
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| 3. |
- Curbis, F., et al.
(författare)
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Status of the soft X-ray laser (SXL) project at the Max IV laboratory
- 2019
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Ingår i: Proceedings of the 39th International Free-Electron Laser Conference, FEL 2019. - : JACoW Publishing. - 9783954502103 ; , s. 749-752
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Konferensbidrag (refereegranskat)abstract
- A Soft X-ray Laser project (the SXL) aiming to produce FEL radiation in the range of 1 to 5 nm is currently in a conceptual design phase and a report on the design is expected to be delivered by March 2021. The FEL will be driven by the existing 3 GeV linac at MAX IV laboratory, which also serves as injector for the two storage rings. The science case has been pushed by a large group of mainly Swedish users and consists of experiments ranging from AMO physics to condensed matter, chemistry and imaging in life science. In this contribution, we will present the current conceptual design of the accelerator and the FEL operation modes together with a general overview of the beamline and experimental station. In particular design options for the FEL will be discussed in conjunction with the features of the electron beam from the MAX IV linac and the connection with the proposed experiments.
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| 4. |
- Andersson, A. J., et al.
(författare)
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Use of an optimisation model for the burden calculation for the blast furnace process
- 2004
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Ingår i: Scandinavian journal of metallurgy. - : Wiley. - 0371-0459 .- 1600-0692. ; 33:3, s. 172-182
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Tidskriftsartikel (refereegranskat)abstract
- The aim of a burden calculation in the blast furnace process is to compute the amounts of burden materials to be charged for obtaining desired hot-metal and slag composition. Burden calculations are normally based on trial-and-error instead of optimisation. In this study, the use of an optimisation model for a typical blast furnace operation is presented. The yield factors of some components, such as Mn, Si, S, P and V, used in the model have been determined. The more common distribution coefficients have also been studied. Both the yield factor and distribution coefficient values were generally good and showed stable behaviour for repeated periods under similar operational conditions. In this study, the model was found to be an excellent tool for determining burden material amounts and hot-metal and slag compositions for a blast furnace under steady and normal operation conditions. Using an optimising burden calculation model is time efficient, because it demands only 1 calculation procedure instead of a couple calculations as in the case with a trial-and-error method.
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| 9. |
- Curbis, F, et al.
(författare)
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HIGHLIGHTS FROM THE CONCEPTUAL DESIGN REPORT OF THE SOFT X-RAY LASER AT MAX IV
- 2021
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Ingår i: Proceedings of IPAC2021.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- The SXL (Soft X-ray Laser) project developed a conceptual design for a soft X-ray Free Electron Laser (FEL) in the 1-5 nm wavelength range, driven by the existing MAX IV 3 GeV linac. In this contribution we will focus on the FEL operation modes developed for the first phase of the project based on two different linac modes. The design work was supported by the Knut and Alice Wallenberg foundation and by several Swedish universities and organizations (
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