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- Kaasinen, E, et al.
(author)
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Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1252-
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Journal article (peer-reviewed)abstract
- Clonal hematopoiesis driven by somatic heterozygous TET2 loss is linked to malignant degeneration via consequent aberrant DNA methylation, and possibly to cardiovascular disease via increased cytokine and chemokine expression as reported in mice. Here, we discover a germline TET2 mutation in a lymphoma family. We observe neither unusual predisposition to atherosclerosis nor abnormal pro-inflammatory cytokine or chemokine expression. The latter finding is confirmed in cells from three additional unrelated TET2 germline mutation carriers. The TET2 defect elevates blood DNA methylation levels, especially at active enhancers and cell-type specific regulatory regions with binding sequences of master transcription factors involved in hematopoiesis. The regions display reduced methylation relative to all open chromatin regions in four DNMT3A germline mutation carriers, potentially due to TET2-mediated oxidation. Our findings provide insight into the interplay between epigenetic modulators and transcription factor activity in hematological neoplasia, but do not confirm the putative role of TET2 in atherosclerosis.
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- Reckermann, M., et al.
(author)
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Human impacts and their interactions in the Baltic Sea region
- 2022
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In: Earth Syst. Dynam.. - : Copernicus GmbH. - 2190-4987 .- 2190-4979. ; 13:1, s. 1-80
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Research review (peer-reviewed)abstract
- Coastal environments, in particular heavily populated semi-enclosed marginal seas and coasts like the Baltic Sea region, are strongly affected by human activities. A multitude of human impacts, including climate change, affect the different compartments of the environment, and these effects interact with each other. As part of the Baltic Earth Assessment Reports (BEAR), we present an inventory and discussion of different human-induced factors and processes affecting the environment of the Baltic Sea region, and their interrelations. Some are naturally occurring and modified by human activities (i.e. climate change, coastal processes, hypoxia, acidification, submarine groundwater discharges, marine ecosystems, non-indigenous species, land use and land cover), some are completely human-induced (i.e. agriculture, aquaculture, fisheries, river regulations, offshore wind farms, shipping, chemical contamination, dumped warfare agents, marine litter and microplastics, tourism, and coastal management), and they are all interrelated to different degrees. We present a general description and analysis of the state of knowledge on these interrelations. Our main insight is that climate change has an overarching, integrating impact on all of the other factors and can be interpreted as a background effect, which has different implications for the other factors. Impacts on the environment and the human sphere can be roughly allocated to anthropogenic drivers such as food production, energy production, transport, industry and economy. The findings from this inventory of available information and analysis of the different factors and their interactions in the Baltic Sea region can largely be transferred to other comparable marginal and coastal seas in the world.
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- Austin, James D, et al.
(author)
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Permanent Genetic Resources added to Molecular Ecology Resources Database 1 February 2011-31 March 2011.
- 2011
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In: Molecular Ecology Resources. - : Wiley. - 1755-098X .- 1755-0998. ; 11:4, s. 757-758
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Journal article (peer-reviewed)abstract
- This article documents the addition of 111 microsatellite marker loci to the Molecular Ecology Resources Database. Loci were developed for the following species: Acipenser oxyrinchus desotoi, Anopheles nuneztovari sensu lato, Asellus aquaticus, Calopteryx splendens, Calopteryx virgo, Centaurea aspera, Centaurea seridis, Chilina dombeyana, Proctoeces cf. lintoni and Pyrenophora teres f. teres.
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- Kivinen, Sonja, et al.
(author)
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Threat spots and environmental determinants of red-listed plant, butterfly and bird species in boreal agricultural environments
- 2008
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In: Biodiversity and Conservation. - : Springer Science and Business Media LLC. - 0960-3115 .- 1572-9710. ; 17:13, s. 3289-3305
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Journal article (peer-reviewed)abstract
- The aims of this study were (1) to examine the geographic distribution of red-listed species of agricultural environments and identify their national threat spots (areas with high diversity of threatened species) in Finland and (2) to determine the main environmental variables related to the richness and occurrence patterns of red-listed species. Atlas data of 21 plant, 17 butterfly and 11 bird species recorded using 10 km grid squares were employed in the study. Generalized additive models (GAMs) were constructed separately for species richness and occurrence of individual species of the three species groups using climate and land cover predictor variables. The predictive accuracy of models, as measured using correlation between the observed and predicted values and AUC statistics, was generally good. Temperature-related variables were the most important determinants of species richness and occurrence of all three taxa. In addition, land cover variables had a strong effect on the distribution of species. Plants and butterflies were positively related to the cover of grasslands and birds to small-scale agricultural mosaic as well as to arable land. Spatial coincidence of threat spots of plants, butterflies and birds was limited, which emphasizes the importance of considering the potentially contrasting environmental requirements of different taxa in conservation planning. Further, it is obvious that the maintenance of various non-crop habitats and heterogeneous agricultural landscapes has an essential role in the preservation of red-listed species of boreal rural environments.
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- Naukkarinen, J., et al.
(author)
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Characterising metabolically healthy obesity in weight-discordant monozygotic twins
- 2014
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In: Diabetologia. - New York, USA : Springer. - 0012-186X .- 1432-0428. ; 57:1, s. 167-176
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Journal article (peer-reviewed)abstract
- Aims/hypothesis: Not all obese individuals display the metabolic disturbances commonly associated with excess fat accumulation. Mechanisms maintaining this ‘metabolically healthy obesity’ (MHO) are as yet unknown. We aimed to study different fat depots and transcriptional pathways in subcutaneous adipose tissue (SAT) as related to the MHO phenomenon.Methods: Sixteen rare young adult obesity-discordant monozygotic (MZ) twin pairs (intra-pair difference (∆) in BMI ≥3 kg/m2), aged 22.8–35.8 years, were examined for detailed characteristics of metabolic health (subcutaneous, intra-abdominal and liver fat [magnetic resonance imaging/spectroscopy]), OGTT, lipids, adipokines and C-reactive protein (CRP). Affymetrix U133 Plus 2.0 chips were used to analyse transcriptomics pathways related to mitochondrial function and inflammation in SAT.Results: Based on liver fat accumulation, two metabolically different subgroups emerged. In half (8/16) of the pairs (∆weight 17.1 ± 2.0 kg), the obese co-twin had significantly higher liver fat (∆718%), 78% increase in AUC insulin during OGTT and CRP, significantly more disturbance in the lipid profile and greater tendency for hypertension compared with the lean co-twin. In these obese co-twins, SAT expression of mitochondrial oxidative phosphorylation, branched-chain amino acid catabolism, fatty acid oxidation and adipocyte differentiation pathways were downregulated and chronic inflammation upregulated. In the other eight pairs (∆weight 17.4 ± 2.8 kg), the obese co-twin did not differ from the non-obese co-twin in liver fat (∆8%), insulin sensitivity, CRP, lipids, blood pressure or SAT transcriptomics.Conclusions/interpretation: Our results suggest that maintenance of high mitochondrial transcription and lack of inflammation in SAT are associated with low liver fat and MHO.
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| 15. |
- Tengborn, Elisabeth, 1978, et al.
(author)
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Effect of the misorientation of the 4H-SiC substrate on the open volume defects in GaN grown by metal-organic chemical vapor deposition
- 2006
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In: Applied Physics Letters. ; 89:091905, s. 3-
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Journal article (peer-reviewed)abstract
- Positron annihilation spectroscopy has been used to study GaN grown by metal-organic chemical vapor deposition on misoriented 4H-SiC substrates. Two kinds of vacancy defects are observed: Ga vacancies and larger vacancy clusters in all the studied layers. In addition to vacancies, positrons annihilate at shallow traps that are likely to be dislocations. The results show that the vacancy concentration increases and the shallow positron trap concentration decreases with the increasing substrate misorientation.
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| 16. |
- Tuomisto, F, et al.
(author)
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Ga sublattice defects in (Ga,Mn)As: Thermodynamical and kinetic trends
- 2004
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In: Physical Review Letters. - 1079-7114. ; 93:5
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Journal article (peer-reviewed)abstract
- We have used positron annihilation spectroscopy and infrared absorption measurements to study the Ga sublattice defects in epitaxial Ga1-xMnxAs with Mn content varying from 0% to 5%. We show that the Ga vacancy concentration decreases and As antisite concentration increases with increasing Mn content. This is in agreement with thermodynamical considerations for the electronic part of the formation energy of the Ga sublattice point defects. However, the absolute defect concentrations imply that they are determined rather by the growth kinetics than by the thermodynamical equilibrium. The As antisite concentrations in the samples are large enough to be important for compensation and magnetic properites. In addition, the Ga vacancies are likely to be involved in the diffusion and clustering of Mn at low annealing temperatures.
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| 19. |
- Aavikko, R., et al.
(author)
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Clustering of vacancy defects in high-purity semi-insulating SiC
- 2007
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In: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 75:8, s. 085208-
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Journal article (peer-reviewed)abstract
- Positron lifetime spectroscopy was used to study native vacancy defects in semi-insulating silicon carbide. The material is shown to contain (i) vacancy clusters consisting of four to five missing atoms and (ii) Si-vacancy-related negatively charged defects. The total open volume bound to the clusters anticorrelates with the electrical resistivity in both as-grown and annealed materials. Our results suggest that Si-vacancy-related complexes electrically compensate the as-grown material, but migrate to increase the size of the clusters during annealing, leading to loss of resistivity. © 2007 The American Physical Society.
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| 20. |
- Aavikko, R, et al.
(author)
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Observation of vacancy clusters in HTCVD grown SiC
- 2005
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In: Materials Science Forum, Vols. 483-485. ; , s. 469-472
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Conference paper (peer-reviewed)abstract
- Positron lifetime spectroscopy was used to study defects in semi-insulating (SI) silicon carbide (SiC) substrates grown by high-temperature chemical vapor deposition (HTCVD). The measured positron lifetime spectra can be decomposed into two components, of which the longer corresponds to vacancy clusters. We have carried out atomic superposition calculations to estimate the size of these clusters.
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| 21. |
- Ben Henda, N., et al.
(author)
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OpenSAW : Open security analysis workbench
- 2017
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In: 20th International Conference on Fundamental Approaches to Software Engineering, FASE 2017 Held as Part of the European Joint Conferences on Theory and Practice of Software, ETAPS 2017. - Berlin, Heidelberg : Springer Berlin/Heidelberg. - 9783662544938 ; , s. 321-337
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Conference paper (peer-reviewed)abstract
- Software is today often composed of many sourced componets, which potentially contain security vulnerabilities, and therefore require testing before being integrated. Tools for automated test case generation, for example, based on white-box fuzzing, are beneficial for this testing task. Such tools generally explore limitations of the specific underlying techniques for solving problems related to, for example, constraint solving, symbolic execution, search heuristics and execution trace extraction. In this article we describe the design of OpenSAW, a more flexible general-purpose white-box fuzzing framework intended to encourage research on new techniques identifying security problems. In addition, we have formalized two unaddressed technical aspects and devised new algorithms for these. The first relates to generalizing and combining different program exploration strategies, and the second relates to prioritizing execution traces. We have evaluated OpenSAW using both in-house and external programs and identified several bugs.
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| 24. |
- Demiroglu, Osman Cenk, et al.
(author)
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The last resort? : Ski tourism and climate change in Arctic Sweden
- 2020
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In: Journal of Tourism Futures. - : Emerald Group Publishing Limited. - 2055-5911 .- 2055-592X. ; 6:1, s. 91-101
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Journal article (peer-reviewed)abstract
- Purpose – The purpose of this paper is to discuss the external and internal factors that support or challenge a possible transformation of Arctic Sweden into a major ski destination under a changing climate.Design/methodology/approach – The paper questions future availability of the physical and the human factors that foster ski tourism development in Arctic Sweden and suggests a comparative case study in relation to the already existing large resort-based ski destinations in Arctic Finland.Findings – Preliminary documentary analysis shows that the governmental and the industrial discourses over the past decade have acknowledged a competitive edge for Sweden and its northernmost regions in particular and may even propose a structural shift for ski tourism in the near future agenda. The visualisations based on natural snow projections presented in this paper confirm this comparative advantage but other technical and socioeconomic development factors are further discussed, in relation to Arctic Finland.Research limitations/implications – Future research agenda is suggested to cover, first, assessment of natural and technical snow reliability of existing and all potential ski areas in Sweden and within its competitive set extending to all the Nordics and the Alps, then, incorporation of adaptive capacities of the suppliers but especially the likely substitution tendencies of the consumers, and finally, evaluation of the overall situation in terms of the regional development needs.Social implications – It is apparent that land use conflicts will arise in case of large ski resort-based destination development in Arctic Sweden, especially around the environmentally protected areas, which are not only already important attractions for nature-based tourism but also traditional livelihoods for the Sami.Originality/value – This is the first paper to discuss a potential regional and structural shift of ski tourism in Sweden.
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| 25. |
- Evans, Alistair R., et al.
(author)
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The maximum rate of mammal evolution
- 2012
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In: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 109:11, s. 4187-4190
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Journal article (peer-reviewed)abstract
- How fast can a mammal evolve from the size of a mouse to the size of an elephant? Achieving such a large transformation calls for major biological reorganization. Thus, the speed at which this occurs has important implications for extensive faunal changes, including adaptive radiations and recovery from mass extinctions. To quantify the pace of large-scale evolution we developed a metric, clade maximum rate, which represents the maximum evolutionary rate of a trait within a clade. We applied this metric to body mass evolution in mammals over the last 70 million years, during which multiple large evolutionary transitions occurred in oceans and on continents and islands. Our computations suggest that it took a minimum of 1.6, 5.1, and 10 million generations for terrestrial mammal mass to increase 100-, and 1,000-, and 5,000-fold, respectively. Values for whales were down to half the length (i.e., 1.1, 3, and 5 million generations), perhaps due to the reduced mechanical constraints of living in an aquatic environment. When differences in generation time are considered, we find an exponential increase in maximum mammal body mass during the 35 million years following the Cretaceous-Paleogene (K-Pg) extinction event. Our results also indicate a basic asymmetry in macroevolution: very large decreases (such as extreme insular dwarfism) can happen at more than 10 times the rate of increases. Our findings allow more rigorous comparisons of microevolutionary and macroevolutionary patterns and processes.
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