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| 2. |
- Roselli, Carolina, et al.
(författare)
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Multi-ethnic genome-wide association study for atrial fibrillation
- 2018
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 50:9, s. 1225-1233
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Tidskriftsartikel (refereegranskat)abstract
- Atrial fibrillation (AF) affects more than 33 million individuals worldwide(1) and has a complex heritability(2). We conducted the largest meta-analysis of genome-wide association studies (GWAS) for AF to date, consisting of more than half a million individuals, including 65,446 with AF. In total, we identified 97 loci significantly associated with AF, including 67 that were novel in a combined-ancestry analysis, and 3 that were novel in a European-specific analysis. We sought to identify AF-associated genes at the GWAS loci by performing RNA-sequencing and expression quantitative trait locus analyses in 101 left atrial samples, the most relevant tissue for AF. We also performed transcriptome-wide analyses that identified 57 AF-associated genes, 42 of which overlap with GWAS loci. The identified loci implicate genes enriched within cardiac developmental, electrophysiological, contractile and structural pathways. These results extend our understanding of the biological pathways underlying AF and may facilitate the development of therapeutics for AF.
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| 3. |
- Estrada, Karol, et al.
(författare)
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
- 2012
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:5, s. 491-501
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Tidskriftsartikel (refereegranskat)abstract
- Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10(-8)). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 × 10(-4), Bonferroni corrected), of which six reached P < 5 × 10(-8), including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility.
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| 4. |
- Andrade, Pedro, et al.
(författare)
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Design and execution of a 3D modular building
- 2014
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Ingår i: Eurosteel 2014. - Brussels, Belgium : European Convention for Constructional Steelwork, ECCS. - 9789291471218 ; , s. 103-104
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Konferensbidrag (refereegranskat)
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| 5. |
- Heistermann, Christine, et al.
(författare)
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Influence of execution tolerances for friction connections in circular and polygonal towers for wind converters
- 2017
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Ingår i: Advanced steel construction. - : Hong Kong Institute of Steel Construction. - 1816-112X. ; 13:4, s. 343-360
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Tidskriftsartikel (refereegranskat)abstract
- Friction connections with long open slotted holes have been proven to be a competitive alternative to the conventional flange connections in steel tubular towers for wind energy converters. As full-scale tests are not available, results of Finite Element Analysis (FEA) of the real-scale tower geometry are used in this paper to investigate the influence of tower cross section shape, execution tolerance (gap between the shells) and length of the connection on the bending resistance. Buckling behaviour of the shell in the vicinity of the friction connection in circular and polygonal towers is compared. The friction connection is thoroughly examined and recommendations for execution tolerances are given. The influence of two types of the execution tolerances on the connection strength is considered: inward bended "fingers", leading to inclined gaps, and a parallel gap created by different tower diameters.
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| 6. |
- Horvath, Daniel G., et al.
(författare)
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Sorting by interfacial tension (SIFT) : Label-free enzyme sorting using droplet microfluidics
- 2019
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Ingår i: Analytica Chimica Acta. - : ELSEVIER. - 0003-2670 .- 1873-4324. ; 1089, s. 108-114
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Tidskriftsartikel (refereegranskat)abstract
- Droplet microfluidics has the ability to greatly increase the throughput of screening and sorting of enzymes by carrying reagents in picoliter droplets flowing in inert oils. It was found with the use of a specific surfactant, the interfacial tension of droplets can be very sensitive to droplet pH. This enables the sorting of droplets of different pH when confined droplets encounter a microfabricated trench. The device can be extended to sort enzymes, as a large number of enzymatic reactions lead to the production of an acidic or basic product and a concurrent change in solution pH. The progress of an enzymatic reaction is tracked from the position of a flowing train of droplets. We demonstrate the sorting of esterase isoenzymes based on their enzymatic activity. This label-free technology, that we dub droplet sorting by interfacial tension (SIFT), requires no active components and would have applications for enzyme sorting in high-throughput applications that include enzyme screening and directed evolution of enzymes.
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| 7. |
- Kwan, Johnny S H, et al.
(författare)
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Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
- 2014
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:24, s. 6684-93
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Tidskriftsartikel (refereegranskat)abstract
- Osteoprotegerin (OPG) is involved in bone homeostasis and tumor cell survival. Circulating OPG levels are also important biomarkers of various clinical traits, such as cancers and atherosclerosis. OPG levels were measured in serum or in plasma. In a meta-analysis of genome-wide association studies in up to 10,336 individuals from European and Asian origin, we discovered that variants >100 Kb upstream of the TNFRSF11B gene encoding OPG and another new locus on chromosome 17q11.2 were significantly associated with OPG variation. We also identified a suggestive locus on chromosome 14q21.2 associated with the trait. Moreover, we estimated that over half of the heritability of OPG levels could be explained by all variants examined in our study. Our findings provide further insight into the genetic regulation of circulating OPG levels.
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| 8. |
- Limam, Marouene, et al.
(författare)
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Towards better understanding of a friction connection in tubular towers for wind turbines
- 2010
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Ingår i: Proceedings of the 4th International Conference on Steel and Composite Structures. - Singapore : Research Publishing Services. ; , s. 507-512
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Konferensbidrag (refereegranskat)abstract
- The present assembling detail between two segments of the tubular tower segments used in to support wind turbines is accomplished by flange connection. This type of connection suffers from a rather low fatigue resistance class, in the range of 40 MPa. To remedy this drawback a new friction joint has been developed in the recently finished international RFCS research project HISTWIN (High-Strength Steel Tower for Wind Turbine). In order to study the behaviour of both type of joints, conventional ring-flange connections and friction connection, eight "Four point bending tests" of down-scaled tubular tower section were performed. The behaviour of tests using the friction connection is described in this paper. A short summary of the experimental and numerical work, performed at RWTH and LTU, respectively, is presented in this paper.
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| 9. |
- Lind, Lars, et al.
(författare)
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Uppsala Consensus Statement on Environmental Contaminants and the Global Obesity Epidemic
- 2016
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Ingår i: Journal of Environmental Health Perspectives. - : Environmental Health Perspectives. - 0091-6765 .- 1552-9924. ; 124:5, s. A81-A83
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Tidskriftsartikel (refereegranskat)abstract
- From the lectures presented at the 2nd International Workshop on Obesity and Environmental Contaminants, which was held in Uppsala, Sweden, on 8–9 October 2015, it became evident that the findings from numerous animal and epidemiological studies are consistent with the hypothesis that environmental contaminants could contribute to the global obesity epidemic. To increase awareness of this important issue among scientists, regulatory agencies, politicians, chemical industry management, and the general public, the authors summarize compelling scientific evidence that supports the hypothesis and discuss actions that could restrict the possible harmful effects of environmental contaminants on obesity.
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| 10. |
- Pavlovic, Marko, et al.
(författare)
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Connections in towers for wind converters : part I: Evaluation of down-scaled experiments
- 2015
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Ingår i: Journal of constructional steel research. - : Elsevier BV. - 0143-974X .- 1873-5983. ; 115, s. 445-457
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Tidskriftsartikel (refereegranskat)abstract
- The cost of a tubular steel tower supporting a wind converter becomes increasingly important in a competitive energy market. In-situ connection between tower segments is an important factor of the design. The tower segments are usually connected by welded ring flanges. An alternative solution based on a novel single lap friction connection is analysed. The purpose of the research presented in this paper is to thoroughly analyse the behaviour of both connections by an experimental testing programme and advanced finite element analysis (FEA). Down-scaled experiments of ring flange and friction connection in circular towers were performed using a 4-point bending test set-up. Altogether eight connections joining cylindrical shell, 1 m diameter, plate thickness 8 mm and total span of about 7 m were tested. A friction connection with long open slotted holes and two different cases of the ring flange connection are considered: with perfectly flat flanges and flanges with geometric imperfection. Results of advanced quasi-static FEA, using explicit dynamic solver and ductile damage material model for bolts, are compared to experiments. Failure modes, bolt forces and distribution of meridional membrane stresses in the shell in the vicinity of connections are analysed. Existing hand-calculation models, for the bolt force and normal stress distribution in the shell are validated by experiments and FEA.
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