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- 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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| 6. |
- 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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| 8. |
- MSaoubi, R., et al.
(författare)
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Microstructure and wear mechanisms of texture-controlled CVD alpha-Al2O3 coatings
- 2017
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Ingår i: Wear. - : ELSEVIER SCIENCE SA. - 0043-1648 .- 1873-2577. ; 376, s. 1766-1778
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Tidskriftsartikel (refereegranskat)abstract
- In the present study, the microstructure and wear mechanisms of texture controlled CVD alpha-Al2O3 layers with (001), (012) and (100) growth textures were investigated in single point turning of C45 carbon steel at low and high cutting speeds. The experimental coatings were investigated by FEG-SEM, EBSD and a combination of FIB and analytical TEM techniques prior to and after machining. Significant texture effects on wear performance of the alpha-Al2O3 coating layers were observed, confirming results from previous wear studies in the context of machining AISI 4140 carbon steel. The wear mechanisms of the coating layers were further interpreted in the light of thermal, mechanical and frictional conditions occurring at the tool chip contact interface. Possible deformation mechanisms of the alpha-Al2O3 layers under the conditions of high pressure and temperatures acting on the tool surface are discussed. The high dislocation density revealed by the TEM observations in the subsurface alpha-Al2O3 layers was attributed to the activation of a basal slip deformation mechanism resulting from the combined action of the shear stress field and high temperature acting on the tool surface. It is suggested that the enhanced and more uniform near surface deformation capability of (001) alpha-Al2O3 is responsible for the improved machining performance. (C) 2017 Elsevier B.V. All rights reserved.
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| 10. |
- Nordlund, D., et al.
(författare)
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Sensitivity of x-ray absorption spectroscopy to hydrogen bond topology
- 2009
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 80:23, s. 233404-
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Tidskriftsartikel (refereegranskat)abstract
- We demonstrate the sensitivity of x-ray absorption spectroscopy to hydrogen bonding using as experimental model system water on Ru(0001). We stepwise go from fully broken to complete H-bond network by varying the morphology from isolated monomers via two-dimensional clusters to a saturated monolayer as probed by scanning tunneling microscopy. The sensitivity of x-ray absorption to the symmetry of H bonding is further elucidated for the amino (-NH2) group in glycine adsorbed on Cu(110) where the E vector is parallel either to the NH donating an H bond or to the non-H-bonded NH. We show that the pre-edge in the x-ray absorption spectrum is associated with an asymmetric hydrogen-bonding situation while the postedge is directly associated with hydrogen bond formation. The results give further evidence for the much debated interpretation of the various spectral features of liquid water and demonstrate the general applicability of x-ray absorption spectroscopy to analyze H-bonded systems.
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