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- van Rheenen, W, et al.
(författare)
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
- 2021
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 53:12, s. 1636-
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Tidskriftsartikel (refereegranskat)abstract
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.
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- Serge, M. A., et al.
(författare)
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Testing the Effect of Relative Pollen Productivity on the REVEALS Model : A Validated Reconstruction of Europe-Wide Holocene Vegetation
- 2023
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Ingår i: Land. - : MDPI. - 2073-445X. ; 12:5
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Tidskriftsartikel (refereegranskat)abstract
- Reliable quantitative vegetation reconstructions for Europe during the Holocene are crucial to improving our understanding of landscape dynamics, making it possible to assess the past effects of environmental variables and land-use change on ecosystems and biodiversity, and mitigating their effects in the future. We present here the most spatially extensive and temporally continuous pollen-based reconstructions of plant cover in Europe (at a spatial resolution of 1 degrees x 1 degrees) over the Holocene (last 11.7 ka BP) using the 'Regional Estimates of VEgetation Abundance from Large Sites' (REVEALS) model. This study has three main aims. First, to present the most accurate and reliable generation of REVEALS reconstructions across Europe so far. This has been achieved by including a larger number of pollen records compared to former analyses, in particular from the Mediterranean area. Second, to discuss methodological issues in the quantification of past land cover by using alternative datasets of relative pollen productivities (RPPs), one of the key input parameters of REVEALS, to test model sensitivity. Finally, to validate our reconstructions with the global forest change dataset. The results suggest that the RPPs.st1 (31 taxa) dataset is best suited to producing regional vegetation cover estimates for Europe. These reconstructions offer a long-term perspective providing unique possibilities to explore spatial-temporal changes in past land cover and biodiversity.
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- Halme, P., et al.
(författare)
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Challenges of ecological restoration : Lessons from forests in northern Europe
- 2013
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Ingår i: Biological Conservation. - : Elsevier BV. - 0006-3207 .- 1873-2917. ; 167, s. 248-256
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Forskningsöversikt (refereegranskat)abstract
- The alarming rate of ecosystem degradation has raised the need for ecological restoration throughout different biomes and continents. North European forests may appear as one of the least vulnerable ecosystems from a global perspective, since forest cover is not rapidly decreasing and many ecosystem services remain at high level. However, extensive areas of northern forests are heavily exploited and have lost a major part of their biodiversity value. There is a strong requirement to restore these areas towards a more natural condition in order to meet the targets of the Convention on Biological Diversity. Several northern countries are now taking up this challenge by restoring forest biodiversity with increasing intensity. The ecology and biodiversity of boreal forests are relatively well understood making them a good model for restoration activities in many other forest ecosystems. Here we introduce northern forests as an ecosystem, discuss the historical and recent human impact and provide a brief status report on the ecological restoration projects and research already conducted there. Based on this discussion, we argue that before any restoration actions commence, the ecology of the target ecosystem should be established with the need for restoration carefully assessed and the outcome properly monitored. Finally, we identify the most important challenges that need to be solved in order to carry out efficient restoration with powerful and long-term positive impacts on biodiversity: coping with unpredictability, maintaining connectivity in time and space, assessment of functionality, management of conflicting interests and social restrictions and ensuring adequate funding. © 2013 Elsevier Ltd.
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- Hannon, G E, et al.
(författare)
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Climate change and human settlement as drivers of late-Holocene vegetational change in the Faroe Islands
- 2005
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Ingår i: The Holocene. - : SAGE Publications. - 0959-6836 .- 1477-0911. ; 15:5, s. 639-647
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Tidskriftsartikel (refereegranskat)abstract
- Changes in Faroese land surfaces during the late Holocene reflect intimate interactions between cultural and environmental development. Analyses of fossil wood, pollen and plant macrofossils indicate that the present open landscape replaced shrubby vegetation that was present from c. 6000 BC Up to c. AD 660. Conditions altered during the late Holocene, with loss of woody vegetation and increasing erosion: trends that were initiated prior to human settlement. AMS dating of sub-fossil Betula, Salix and Juniperus found buried in peat profiles from the islands of Suouroy, Sandoy, Eysturoy, Vagar and Streymoy, revealed that the islands had at least partial woody vegetation cover up to the time of continuous settlement. The settlement horizon, identified in a lacustrine sequence on the island of Eysturoy, dated to c. AD 570. It comprised pollen evidence for the cultivation of Hordeum, cultural macrofossil assemblages, charcoal fragments, diatom assemblage changes indicating lake nutrient enrichment and physical measurements showing increased sedimentation rates. The pollen record showed that heathland development was initiated prior to anthropogenic impact. The ecosystem impacts of settlement were therefore superimposed on landscape changes that began around AD 250. The earlier changes were most likely forced by increased storminess and declining atmospheric temperatures.
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