| 1. |
- de Jong, S, et al.
(författare)
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
- 2018
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Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 1, s. 163-
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Tidskriftsartikel (refereegranskat)abstract
- Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
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| 2. |
- Garsen, Marjolein, et al.
(författare)
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Heparanase Is Essential for the Development of Acute Experimental Glomerulonephritis
- 2016
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Ingår i: American Journal of Pathology. - : Elsevier BV. - 0002-9440 .- 1525-2191. ; 186:4, s. 805-815
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Tidskriftsartikel (refereegranskat)abstract
- Heparanase, a heparan sulfate (HS)-specific endoglucuronidase, mediates the onset of proteinuria and renal damage during experimental diabetic nephropathy. Glomerular heparanase expression is increased in most proteinuric diseases. Herein, we evaluated the role of heparanase in two models of experimental glomerulonephritis, being anti-glomerular basement membrane and lipopolysaccharide-induced glomerulonephritis, in wild-type and heparanase-deficient mice. Induction of experimental glomerulonephritis Led to an increased heparanase expression in wild-type mice, which was associated with a decreased glomerular expression of a highly sulfated HS domain, and albuminuria. Albuminuria was reduced in the heparanase-deficient mice in both models of experimental glomerulonephritis, which was accompanied by a better renal function and less renal damage. Notably, glomerular HS expression was preserved in the heparanase-deficient mice. Glomerular leukocyte and macrophage influx was reduced in the heparanase-deficient mice, which was accompanied by a reduced expression of both types 1 and 2 helper T-cell cytokines. In vitro, tumor necrosis factor-alpha and Lipopolysaccharide directly induced heparanase expression and increased transendothelial albumin passage. Our study shows that heparanase contributes to proteinuria and renal damage in experimental glomerulonephritis by decreasing glomerular HS expression, enhancing renal leukocyte and macrophage influx, and affecting the Local cytokine milieu.
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| 3. |
- Vieira, Thomas, et al.
(författare)
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Development of an axial flux machine and control : simulation and experimental set up
- 2016
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Ingår i: 2016 12th IEEE/IAS International Conference On Industry Applications (INDUSCON). - 9781509051274
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Konferensbidrag (refereegranskat)abstract
- Simulation and experimental development of a driving system and control for an axial flux permanent magnet machine has been developed. The complete system, including the machine design and construction, has been accomplished due to the collaboration among different universities in Brazil and Sweden. Final experimental setup is aimed for testing a passive levitation system, which can be used as small flywheel energy storage. Simulations have been implemented using Simulink. The design and construction of different components of the driving system are presented, in a way so they can be reproduced. Control strategy has been implemented using Labview and Compact-Rio. Results show the functionality of the complete system at a nominal speed of 2800 rpm.
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