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| 2. |
- Thompson, Paul M., et al.
(författare)
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The ENIGMA Consortium : large-scale collaborative analyses of neuroimaging and genetic data
- 2014
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Ingår i: BRAIN IMAGING BEHAV. - : Springer Science and Business Media LLC. - 1931-7557 .- 1931-7565. ; 8:2, s. 153-182
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Tidskriftsartikel (refereegranskat)abstract
- The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.
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| 3. |
- Nordmark, G., et al.
(författare)
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Association of Genes in the NF-kappa B Pathway with Antibody-Positive Primary Sjogren's Syndrome
- 2013
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Ingår i: Scandinavian Journal of Immunology. - : Wiley. - 0300-9475 .- 1365-3083. ; 78:5, s. 447-454
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Tidskriftsartikel (refereegranskat)abstract
- Primary Sjogren's syndrome (SS) is a systemic autoimmune inflammatory disease characterized by focal lymphocytic infiltrates in the lachrymal and salivary glands and autoantibodies against the SSA/Ro and SSB/La antigens. Experimental studies have shown an activation of NF-B in primary SS. NF-B activation results in inflammation and autoimmunity and is regulated by inhibitory and activating proteins. Genetic studies have shown an association between multiple autoimmune diseases and TNFAIP3 (A20) and TNIP1 (ABIN1), both repressors of NF-B and of IKBKE (IKK epsilon), which is an NF-B activator. The aim of this study was to analyse single nucleotide polymorphisms (SNPs) in the IKBKE, NFKB1, TNIP1 and TNFAIP3 genes for association with primary SS. A total of 12 SNPs were genotyped in 1105 patients from Scandinavia (Sweden and Norway, n=684) and the UK (n=421) and 4460 controls (Scandinavia, n=1662, UK, n=2798). When patients were stratified for the presence of anti-SSA and/or anti-SSB antibodies (n=868), case-control meta-analysis found an association between antibody-positive primary SS and two SNPs in TNIP1 (P=3.4x10(-5), OR=1.33, 95%CI: 1.16-1.52 for rs3792783 and P=1.3x10(-3), OR=1.21, 95%CI: 1.08-1.36 for rs7708392). A TNIP1 risk haplotype was associated with antibody-positive primary SS (P=5.7x10(-3), OR=1.47, 95%CI: 1.12-1.92). There were no significant associations with IKBKE, NFKB1 or TNFAIP3 in the meta-analysis of the Scandinavian and UK cohorts. We conclude that polymorphisms in TNIP1 are associated with antibody-positive primary SS.
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| 4. |
- Peden, John F., et al.
(författare)
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A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:4, s. 339-344
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies have identified 11 common variants convincingly associated with coronary artery disease (CAD)(1-7), a modest number considering the apparent heritability of CAD(8). All of these variants have been discovered in European populations. We report a meta-analysis of four large genome-wide association studies of CAD, with similar to 575,000 genotyped SNPs in a discovery dataset comprising 15,420 individuals with CAD (cases) (8,424 Europeans and 6,996 South Asians) and 15,062 controls. There was little evidence for ancestry-specific associations, supporting the use of combined analyses. Replication in an independent sample of 21,408 cases and 19,185 controls identified five loci newly associated with CAD (P < 5 x 10(-8) in the combined discovery and replication analysis): LIPA on 10q23, PDGFD on 11q22, ADAMTS7-MORF4L1 on 15q25, a gene rich locus on 7q22 and KIAA1462 on 10p11. The CAD-associated SNP in the PDGFD locus showed tissue-specific cis expression quantitative trait locus effects. These findings implicate new pathways for CAD susceptibility.
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| 5. |
- Lindenmayer, D. B., et al.
(författare)
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Value of long-term ecological studies
- 2012
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Ingår i: Austral ecology (Print). - : Wiley. - 1442-9985 .- 1442-9993. ; 37:7, s. 745-757
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Forskningsöversikt (refereegranskat)abstract
- Long-term ecological studies are critical for providing key insights in ecology, environmental change, natural resource management and biodiversity conservation. In this paper, we briefly discuss five key values of such studies. These are: (1) quantifying ecological responses to drivers of ecosystem change; (2) understanding complex ecosystem processes that occur over prolonged periods; (3) providing core ecological data that may be used to develop theoretical ecological models and to parameterize and validate simulation models; (4) acting as platforms for collaborative studies, thus promoting multidisciplinary research; and (5) providing data and understanding at scales relevant to management, and hence critically supporting evidence-based policy, decision making and the management of ecosystems. We suggest that the ecological research community needs to put higher priority on communicating the benefits of long-term ecological studies to resource managers, policy makers and the general public. Long-term research will be especially important for tackling large-scale emerging problems confronting humanity such as resource management for a rapidly increasing human population, mass species extinction, and climate change detection, mitigation and adaptation. While some ecologically relevant, long-term data sets are now becoming more generally available, these are exceptions. This deficiency occurs because ecological studies can be difficult to maintain for long periods as they exceed the length of government administrations and funding cycles. We argue that the ecological research community will need to coordinate ongoing efforts in an open and collaborative way, to ensure that discoverable long-term ecological studies do not become a long-term deficiency. It is important to maintain publishing outlets for empirical field-based ecology, while simultaneously developing new systems of recognition that reward ecologists for the use and collaborative sharing of their long-term data sets. Funding schemes must be re-crafted to emphasize collaborative partnerships between field-based ecologists, theoreticians and modellers, and to provide financial support that is committed over commensurate time frames.
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| 6. |
- Davies, Brian E., et al.
(författare)
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Medical geology : Perspectives and prospects
- 2013
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Ingår i: Essentials of Medical Geology. - Dordrecht : Springer. - 9789400743755 - 9789400743748 ; , s. 1-13
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- This chapter is a brief history of medical geology—the study of health problems related to ‘place.’ This overview is not exhaustive; instead, it highlights some important cases that have arisen during the development of the science of medical geology. An excess, deficiency or imbalance of inorganic elements originating from geological sources can affect human and animal well-being either directly (e.g., a lack of dietary iodine leading to goitre) or indirectly (e.g., effect on metabolic processes such as the supposed protective effect of selenium in cardiovascular disease). Such links have long been known but were unexplained until alchemy evolved into chemistry in the seventeenth century, when medicine ceased to be the art of monks versed in homeopathic remedies and experimental explanations of disease was sought rather than relying on the writings of the Classical Greek philosophers, and modern geology was forged by Lyell and Hutton. In addition, the exploitation of mineral resources gathered pace in the seventeenth century and brought in its train the widespread release of toxic elements to the environment. New sciences of public health and industrial hygiene emerged and their studies have helped inform our understanding of the health implications of the natural occurrence of these elements.
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| 7. |
- Jansen, John D., et al.
(författare)
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Lowland river responses to intraplate tectonism and climate forcing quantified with luminescence and cosmogenic Be-10
- 2013
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Ingår i: Earth and Planetary Science Letters. - : Elsevier BV. - 0012-821X .- 1385-013X. ; 366, s. 49-58
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Tidskriftsartikel (refereegranskat)abstract
- Intraplate tectonism has produced large-scale folding that steers regional drainage systems, such as the 1600 km-long Cooper Ck, en route to Australia's continental depocentre at Lake Eyre. We apply cosmogenic Be-10 exposure dating in bedrock, and luminescence dating in sediment, to quantify the erosional and depositional response of Cooper Ck where it incises the rising Innamincka Dome. The detachment of bedrock joint-blocks during extreme floods governs the minimum rate of incision (17.4 +/- 6.5 mm/ky) estimated using a numerical model of episodic erosion calibrated with our 10Be measurements. The last big-flood phase occurred no earlier than similar to 112-121 ka. Upstream of the Innamincka Dome long-term rates of alluvial deposition, partly reflecting synclinal-basin subsidence, are estimated from 47 luminescence dates in sediments accumulated since similar to 270 ka. Sequestration of sediment in subsiding basins such as these may account for the lack of Quaternary accumulation in Lake Eyre, and moreover suggests that notions of a single primary depocentre at base-level may poorly represent lowland, arid-zone rivers. Over the period similar to 75-55 ka Cooper Ck changed from a bedload-dominant, laterally-active meandering river to a muddy anabranching channel network up to 60 km wide. We propose that this shift in river pattern was a product of base-level rise linked with the slowly deforming syncline-anticline structure, coupled with a climate-forced reduction in discharge. The uniform valley slope along this subsiding alluvial and rising bedrock system represents an adjustment between the relative rates of deformation and the ability of greatly enhanced flows at times during the Quaternary to incise the rising anticline. Hence, tectonic and climate controls are balanced in the long term.
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| 8. |
- McDonnell, T C, et al.
(författare)
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Modeled subalpine plant community response to climate change and atmospheric nitrogen deposition in Rocky Mountain National Park, USA.
- 2014
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Ingår i: Environmental Pollution. - : Elsevier BV. - 0269-7491. ; 187, s. 55-64
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Tidskriftsartikel (refereegranskat)abstract
- To evaluate potential long-term effects of climate change and atmospheric nitrogen (N) deposition on subalpine ecosystems, the coupled biogeochemical and vegetation community competition model ForSAFE-Veg was applied to a site at the Loch Vale watershed of Rocky Mountain National Park, Colorado. Changes in climate and N deposition since 1900 resulted in pronounced changes in simulated plant species cover as compared with ambient and estimated future community composition. The estimated critical load (CL) of N deposition to protect against an average future (2010-2100) change in biodiversity of 10% was between 1.9 and 3.5 kg N ha(-1) yr(-1). Results suggest that the CL has been exceeded and vegetation at the study site has already undergone a change of more than 10% as a result of N deposition. Future increases in air temperature are forecast to cause further changes in plant community composition, exacerbating changes in response to N deposition alone.
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| 9. |
- Sverdrup, Harald, et al.
(författare)
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Testing the Feasibility of Using the ForSAFE-VEG Model to Map the Critical Load of Nitrogen to Protect Plant Biodiversity in the Rocky Mountains Region, USA
- 2012
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Ingår i: Water, Air and Soil Pollution. - : Springer Science and Business Media LLC. - 1573-2932 .- 0049-6979. ; 223:1, s. 371-387
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Tidskriftsartikel (refereegranskat)abstract
- The ForSAFE-VEG model was used to estimate atmospheric nitrogen deposition and climate effects on soil chemistry and ground vegetation in alpine and subalpine zones of the northern and central Rocky Mountains region in the USA from 1750 to 2500. Model simulations for a generalized site illustrated how the critical load of atmospheric nitrogen deposition could be estimated to protect plant biodiversity. The results appear reasonable compared with past model applications in northern Europe. Atmospheric N deposition critical loads estimated to protect plant biodiversity were 1 to 2 kg N/ha/year. This range could be greater, depending on the values selected for critical site-specific parameters (precipitation, temperature, soil chemistry, plant nutrient uptake, and any eventual harvest of biomass) and the amount of biodiversity change allowed.
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