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- Kehoe, Laura, et al.
(författare)
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Make EU trade with Brazil sustainable
- 2019
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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- Panneman, Daan M., et al.
(författare)
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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
- 2023
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Ingår i: Frontiers in Cell and Developmental Biology. - : Frontiers Media SA. - 2296-634X. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the costs and required infrastructure prevent its global applicability. Previous studies have shown the cost-effectiveness of sequence analysis using single molecule Molecular Inversion Probes (smMIPs) in a cohort of patients diagnosed with Stargardt disease and other maculopathies. Methods: Here, we introduce a smMIPs panel that targets the exons and splice sites of all currently known genes associated with RP and LCA, the entire RPE65 gene, known causative deep-intronic variants leading to pseudo-exons, and part of the RP17 region associated with autosomal dominant RP, by using a total of 16,812 smMIPs. The RP-LCA smMIPs panel was used to screen 1,192 probands from an international cohort of predominantly RP and LCA cases. Results and discussion: After genetic analysis, a diagnostic yield of 56% was obtained which is on par with results from WES analysis. The effectiveness and the reduced costs compared to WES renders the RP-LCA smMIPs panel a competitive approach to provide IRD patients with a genetic diagnosis, especially in countries with restricted access to genetic testing.
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- Andersen, Zorana J., et al.
(författare)
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Long-term Exposure to Ambient Air Pollution and Incidence of Brain Tumor : the European Study of Cohorts for Air Pollution Effects (ESCAPE)
- 2018
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Ingår i: Neuro-Oncology. - : Oxford University Press. - 1522-8517 .- 1523-5866. ; 20:3, s. 420-432
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Tidskriftsartikel (refereegranskat)abstract
- Background: Epidemiological evidence on the association between ambient air pollution and brain tumor risk is sparse and inconsistent.Methods: In 12 cohorts from 6 European countries, individual estimates of annual mean air pollution levels at the baseline residence were estimated by standardized land-use regression models developed within the ESCAPE and TRANSPHORM projects: particulate matter (PM) ≤2.5, ≤10, and 2.5–10 μm in diameter (PM2.5, PM10, and PMcoarse), PM2.5 absorbance, nitrogen oxides (NO2 and NOx) and elemental composition of PM. We estimated cohort-specific associations of air pollutant concentrations and traffic intensity with total, malignant, and nonmalignant brain tumor, in separate Cox regression models, adjusting for risk factors, and pooled cohort-specific estimates using random-effects meta-analyses.Results: Of 282194 subjects from 12 cohorts, 466 developed malignant brain tumors during 12 years of follow-up. Six of the cohorts also had data on nonmalignant brain tumor, where among 106786 subjects, 366 developed brain tumor: 176 nonmalignant and 190 malignant. We found a positive, statistically nonsignificant association between malignant brain tumor and PM2.5 absorbance (hazard ratio and 95% CI: 1.67; 0.89–3.14 per 10–5/m3), and weak positive or null associations with the other pollutants. Hazard ratio for PM2.5 absorbance (1.01; 0.38–2.71 per 10–5/m3) and all other pollutants were lower for nonmalignant than for malignant brain tumors.Conclusion: We found suggestive evidence of an association between long-term exposure to PM2.5 absorbance indicating traffic-related air pollution and malignant brain tumors, and no association with overall or nonmalignant brain tumors.
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- Čejka, Tomáš, et al.
(författare)
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Predicted climate change will increase the truffle cultivation potential in central Europe
- 2020
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- Climate change affects the distribution of many species, including Burgundy and Perigord truffles in central and southern Europe, respectively. The cultivation potential of these high-prized cash crops under future warming, however, remains highly uncertain. Here we perform a literature review to define the ecological requirements for the growth of both truffle species. This information is used to develop niche models, and to estimate their cultivation potential in the Czech Republic under current (2020) and future (2050) climate conditions. The Burgundy truffle is already highly suitable for cultivation on similar to 14% of agricultural land in the Czech Republic (8486 km(2)), whereas only similar to 8% of the warmest part of southern Moravia are currently characterised by a low suitability for Perigord truffles (6418 km(2)). Though rising temperatures under RCP8.5 will reduce the highly suitable cultivation areas by 7%, the 250 km(2) (3%) expansion under low-emission scenarios will stimulate Burgundy truffles to benefit from future warming. Doubling the moderate and expanding the highly suitable land by 352 km(2) in 2050, the overall cultivation potential for Perigord truffles will rise substantially. Our findings suggest that Burgundy and Perigord truffles could become important high-value crops for many regions in central Europe with alkaline soils. Although associated with uncertainty, long-term investments in truffle cultivation could generate a wide range of ecological and economic benefits.
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- Jaun, André, et al.
(författare)
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Gyrokinetic modelling of macro-instabilities in high performance tokamak plasmas
- 2001
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Ingår i: Plasma Physics and Controlled Fusion. - 0741-3335 .- 1361-6587. ; 43, s. A207-A216
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Tidskriftsartikel (refereegranskat)abstract
- The modelling of Alfvenic instabilities is discussed from the point of view of mode-conversion, showing how the development of the theory affects the predictions as the limitations of the models are gradually relaxed. Conventional tokamak plasmas are relatively well understood and are used for the case of a kinetic Alfven eigenmode (AE) to assess the resonant wave-particle interactions along the magnetic field. The large safety factor in the core of deeply reversed shear plasmas and the low magnetic field of spherical tokamaks, however, bring the AEs down into the drift-frequency range; modifications of the spectrum through toroidal mode-conversion then creates a new class of drift-kinetic AEs that could affect the fast particle confinement. Experiments have been carried out to verify these predictions in JET. They confirm the presence of weakly damped modes, which do not follow the usual AEs scaling.
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