| 1. |
- Arking, D. E., et al.
(författare)
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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
- 2014
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 46:8, s. 826-836
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Tidskriftsartikel (refereegranskat)abstract
- The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼ 8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD. © 2014 Nature America, Inc.
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| 2. |
- Grieser, M., et al.
(författare)
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Storage ring at HIE-ISOLDE
- 2012
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Ingår i: European Physical Journal: Special Topics. - : Springer Science and Business Media LLC. - 1951-6401 .- 1951-6355. ; 207:1, s. 1-117
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Tidskriftsartikel (refereegranskat)abstract
- We propose to install a storage ring at an ISOL-type radioactive beam facility for the first time. Specifically, we intend to setup the heavy-ion, low-energy ring TSR at the HIE-ISOLDE facility in CERN, Geneva. Such a facility will provide a capability for experiments with stored secondary beams that is unique in the world. The envisaged physics programme is rich and varied, spanning from investigations of nuclear ground-state properties and reaction studies of astrophysical relevance, to investigations with highly-charged ions and pure isomeric beams. The TSR might also be employed for removal of isobaric contaminants from stored ion beams and for systematic studies within the neutrino beam programme. In addition to experiments performed using beams recirculating within the ring, cooled beams can also be extracted and exploited by external spectrometers for high-precision measurements. The existing TSR, which is presently in operation at the Max-Planck Institute for Nuclear Physics in Heidelberg, is well-suited and can be employed for this purpose. The physics cases as well as technical details of the existing ring facility and of the beam and infrastructure requirements at HIE-ISOLDE are discussed in the present technical design report.
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| 3. |
- Jilvero, Henrik, 1984, et al.
(författare)
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Techno-economic Analysis of Carbon Capture at an Aluminum Production Plant – Comparison of Post-combustion Capture Using MEA and Ammonia
- 2014
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Ingår i: Energy Procedia. - : Elsevier BV. - 1876-6102. ; 63, s. 6590-6601
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Konferensbidrag (refereegranskat)abstract
- Two absorbents, ammonia and MEA, have been evaluated for post-combustion capture of carbon dioxide at an aluminum manufacturing plant with respect to technical and economic performance. Process simulations combined with advanced thermodynamic models are used to model the process performance. A detailed economical estimation has been made for both ammonia and MEA-based post combustion capture as a function of flue gas CO2 concentration. The two processes have been compared with respect to the specific capture cost (€/tCO2 captured). The results show that the ammonia-based process is the most cost efficient at high flue gas CO2 concentrations (7-10%) with a cost of 74-82 €/tCO2 and the MEA-based process is the most cost efficient option at low flue gas CO2 concentrations (3-4%) with a cost of 93-97 €/tCO2. A heat integration analysis reveals that up to 50% of the heat requirement can be covered with excess heat from the aluminum manufacturing plant, which potentially could reduce the capture cost with 10-15 €/tCO2.
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| 4. |
- Lango Allen, Hana, et al.
(författare)
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Hundreds of variants clustered in genomic loci and biological pathways affect human height.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
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Tidskriftsartikel (refereegranskat)abstract
- Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
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| 5. |
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| 6. |
- Laurell, Fredrik, et al.
(författare)
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Laser written waveguides in KTP for broadband Type II frequency doubling
- 2012
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Ingår i: Proceedings ECIO 2012.
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Konferensbidrag (refereegranskat)abstract
- Femto-second laser writing was used to fabricatewaveguides in KTP with losses below 0.8 dB/cm. They were usedfor efficient broad bandwidth, Type II frequency doubling of cwTi-sapphire laser radiation at 1080.4 nm.
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| 7. |
- Lindahl, Emma, et al.
(författare)
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Early transcriptional regulation by C-peptide in freshly isolated rat proximal tubular cells
- 2011
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Ingår i: Diabetes/Metabolism Research Reviews. - : Wiley. - 1520-7552 .- 1520-7560. ; 27:7, s. 697-704
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Clinical studies have shown that proinsulin C-peptide exerts renoprotective effects in type 1 diabetes, although the underlying mechanisms are poorly understood. As C-peptide has been shown to induce several intracellular events and to localize to nuclei, we aimed to determine whether gene transcription is affected in proximal tubular kidney cells, and if so, whether genes with altered transcription include those related to protective mechanisms. METHODS: The effect of C-peptide incubation (2h) on gene expression was investigated in freshly isolated proximal tubular cells from streptozotocin-diabetic Sprague-Dawley rats using global gene expression profiling and RT-qPCR. Protein expression was assayed using western blotting. Different bioinformatic strategies were employed. RESULTS: Gene transcription profiling demonstrated differential transcription of 492 genes (p<0.01) after 2h of C-peptide exposure, with the majority of these genes repressed (83%). RT-qPCR validation supported a trend of several GPCR's being activated, and certain transcription factors to be repressed. Also, C-peptide repressed the transcription of genes associated with pathways of circulatory and inflammatory diseases. CONCLUSIONS: This study shows that C-peptide exerts early effects on gene transcription in proximal tubular cells. The findings also bring further knowledge to the renoprotective mechanisms of C-peptide in type I diabetes, and supports a transcriptional activity for C-peptide. It is suggested that C-peptide may play a regulatory role in the gene expression of proximal tubular cells.
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| 8. |
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| 9. |
- Ljunglöf, Peter, 1971, et al.
(författare)
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Lekbot: A talking and playing robot for children with disabilities
- 2011
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Ingår i: SLPAT'11: 2nd Workshop on Speech and Language Processing for Assistive Technologies.
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Konferensbidrag (refereegranskat)abstract
- This paper describes an ongoing project where we develop and evaluate a setup involving a communication board and a toy robot, which can communicate with each other via synthesized speech. The purpose is to provide children with communicative disabilities with a toy that is fun and easy to use together with peers, with and without disabilities. When the child selects a symbol on the communication board, the board speaks and the robot responds. This encourages the child to use language and learn to cooperate to reach a common goal. Throughout the project, three children with cerebral palsy and their peers use the robot and provide feedback for further development. The multimodal interaction with the robot is video recorded and analyzed together with observational data in activity diaries.
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| 10. |
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