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| 2. |
- Wang, Li-San, et al.
(författare)
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Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States.
- 2015
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Ingår i: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 72:2
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Tidskriftsartikel (refereegranskat)abstract
- Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States.
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| 3. |
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- 2019
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Tidskriftsartikel (refereegranskat)
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| 4. |
- Pattaro, Cristian, et al.
(författare)
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.
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| 5. |
- Wuttke, Matthias, et al.
(författare)
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A catalog of genetic loci associated with kidney function from analyses of a million individuals
- 2019
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Ingår i: Nature Genetics. - : NATURE PUBLISHING GROUP. - 1061-4036 .- 1546-1718. ; 51:6, s. 957-972
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Tidskriftsartikel (refereegranskat)abstract
- Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
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| 6. |
- Jentschel, M., et al.
(författare)
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EXILL - a high-efficiency, high-resolution setup for gamma-spectroscopy at an intense cold neutron beam facility
- 2017
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Ingår i: Journal of Instrumentation. - : IOP PUBLISHING LTD. - 1748-0221. ; 12
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Tidskriftsartikel (refereegranskat)abstract
- In the EXILL campaign a highly efficient array of high purity germanium (HPGe) detectors was operated at the cold neutron beam facility PF1B of the Institut Laue-Langevin (ILL) to carry out nuclear structure studies, via measurements of gamma-rays following neutron-induced capture and fission reactions. The setup consisted of a collimation system producing a pencil beam with a thermal capture equivalent flux of about 10(8) ns(-1)cm(2) at the target position and negligible neutron halo. The targetwas surrounded by an array of eight to ten anti-Compton shielded EXOGAMClover detectors, four to six anti-Compton shielded large coaxial GASP detectors and two standard Clover detectors. For a part of the campaign the array was combined with 16 LaBr3:(Ce) detectors from the FATIMA collaboration. The detectorswere arranged in an array of rhombicuboctahedron geometry, providing the possibility to carry out very precise angular correlation and directional-polarization correlation measurements. The triggerless acquisition system allowed a signal collection rate of up to 6 x 10(5) Hz. The data allowed to set multi-fold coincidences to obtain decay schemes and in combination with the FATIMA array of LaBr3:(Ce) detectors to analyze half-lives of excited levels in the pico-to microsecond range. Precise energy and efficiency calibrations of EXILL were performed using standard calibration sources of Ba-133, Co-60 and Eu-152 as well as data from the reactions Al-27(n, gamma)Al-28 and Cl-35(n,gamma)Cl-36 in the energy range from 30 keV up to 10MeV.
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| 7. |
- Avital, Michel, et al.
(författare)
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The sharing economy : Friend or foe?
- 2015
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Ingår i: ICIS 2015 Proceedings. - 9780996683111
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Konferensbidrag (refereegranskat)abstract
- The sharing economy is spreading rapidly worldwide in a number of industries and markets. The disruptive nature of this phenomenon has drawn mixed responses ranging from active conflict to adoption and assimilation. Yet, in spite of the growing attention to the sharing economy, we still do not know much about it. With the abundant enthusiasm about the benefits that the sharing economy can unleash and the weekly reminders about its dark side, further examination is required to determine the potential of the sharing economy while mitigating its undesirable side effects. The panel will join the ongoing debate about the sharing economy and contribute to the discourse with insights about how digital technologies are critical in shaping this turbulent ecosystem. Furthermore, we will define an agenda for future research on the sharing economy as it becomes part of the mainstream society as well as part of the IS research repertoire.
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| 8. |
- Begley, Cecily, 1954, et al.
(författare)
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Evaluation of an intervention to increase vaginal birth after caesarean section through enhanced women-centred care: The OptiBIRTH randomised trial (ISRCTN10612254)
- 2017
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Ingår i: 31th ICM Triennial Congress.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Background: Vaginal birth after a previous caesarean (VBAC) is a safe alternative to repeat caesarean section (CS), is the preferred option of most women and may reduce overall CS rates.1 However, VBAC rates vary; e.g., rates in Germany, Ireland and Italy are considerably lower (29-36%) than those in the Netherlands, Sweden and Finland (45-55%). Purpose/Objective: To evaluate the effectiveness of an intervention to maximise VBAC rates. The OptiBIRTH Project was funded by a European Union Grant: FP7-HEALTH-2012-INNOVATION-1-HEALTH.2012.3.2-1. Agreement No:305208 Method: A cluster randomised trial was used. A sample size of 12 maternity units was required, each recruiting 120 consenting women, to detect an absolute 15% difference in successful VBACs (increase from 25% in control to 40% in intervention groups), using an ICC of 0.05, with power of >80% and an alpha of 0.05. To allow for loss to follow-up, 15 trial units were randomised across three countries with low VBAC rates (Germany, Ireland and Italy) and the trial commenced April 2014. An evidence-based intervention was introduced in all intervention sites. Control sites had usual care. Interim analysis by an independent Data Monitoring Committee at mid-point permitted continuation. Data were analysed using intention to treat. Key Findings: Recruitment closed October 2015, with the last babies born in December 2015, and data analysis will be completed in April 2016. The primary outcome, comparison of annual VBAC rates for each hospital before and after introduction of the intervention will be presented, and selected secondary outcomes for the recruited women including: mode of birth, perineal trauma, breastfeeding, uterine rupture, wound breakdown, perinatal mortality, Apgar scores, and admission to neonatal intensive care unit. Discussion: If the OptiBIRTH intervention increases VBAC rates safely, its introduction across Europe could prevent 160,000 unnecessary CSs every year, saving maternity services >€150 million annually and contributing to the normalisation of birth for thousands of women. References: 1 Cunningham et al (2010). National Institute of Health Consensus Development Conference Statement: Vaginal birth after caesarean. Obstet & Gynecol 115(6): 1279-1295. 2 EURO-PERISTAT 2008: CD006066.EURO-PERISTAT Project (2008). European Perinatal Health Report. (www.europeristat.com).
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| 9. |
- Carroll, Joseph, et al.
(författare)
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A Cross-Disciplinary Survey of Beliefs about Human Nature, Culture, and Science
- 2017
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Ingår i: Evolutionary Studies in Imaginative Culture. - 2472-9884 .- 2472-9876. ; 1:1, s. 1-32
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Tidskriftsartikel (refereegranskat)abstract
- How far has the Darwinian revolution come? To what extent have evolutionary ideas penetrated into the social sciences and humanities? Are the “science wars” over? Or do whole blocs of disciplines face off over an unbridgeable epistemic gap? To answer questions like these, contributors to top journals in 22 disciplines were surveyed on their beliefs about human nature, culture, and science. More than 600 respondents completed the survey. Scoring patterns divided into two main sets of disciplines. Genetic influences were emphasized in the evolutionary social sciences, evolutionary humanities, psychology, empirical study of the arts, philosophy, economics, and political science. Environmental influences were emphasized in most of the humanities disciplines and in anthropology, sociology, education, and women’s or gender studies. Confidence in scientific explanation correlated positively with emphasizing genetic influences on behavior, and negatively with emphasizing environmental influences. Knowing the current actual landscape of belief should help scholars avoid sterile debates and ease the way toward fruitful collaborations with neighboring disciplines.
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| 10. |
- Heald, G. H., et al.
(författare)
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The LOFAR Multifrequency Snapshot Sky Survey (MSSS) : I. Survey description and first results
- 2015
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 582, s. 1-22
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Tidskriftsartikel (refereegranskat)abstract
- We present the Multifrequency Snapshot Sky Survey (MSSS), the first northern-sky Low Frequency Array (LOFAR) imaging survey. In this introductory paper, we first describe in detail the motivation and design of the survey. Compared to previous radio surveys, MSSS is exceptional due to its intrinsic multifrequency nature providing information about the spectral properties of the detected sources over more than two octaves (from 30 to 160 MHz). The broadband frequency coverage, together with the fast survey speed generated by LOFAR’s multibeaming capabilities, make MSSS the first survey of the sort anticipated to be carried out with the forthcoming Square Kilometre Array (SKA). Two of the sixteen frequency bands included in the survey were chosen to exactly overlap the frequency coverage of large-area Very Large Array (VLA) and Giant Metrewave Radio Telescope (GMRT) surveys at 74 MHz and 151 MHz respectively. The survey performance is illustrated within the MSSS Verification Field (MVF), a region of 100 square degrees centered at (α,δ)J2000 = (15h,69°). The MSSS results from the MVF are compared with previous radio survey catalogs. We assess the flux and astrometric uncertainties in the catalog, as well as the completeness and reliability considering our source finding strategy. We determine the 90% completeness levels within the MVF to be 100 mJy at 135 MHz with 108″ resolution, and 550 mJy at 50 MHz with 166″ resolution. Images and catalogs for the full survey, expected to contain 150 000–200 000 sources, will be released to a public web server. We outline the plans for the ongoing production of the final survey products, and the ultimate public release of images and source catalogs.
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