| 1. |
- Sønderby, Ida E., et al.
(författare)
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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
- 2021
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Ingår i: Translational Psychiatry. - : Nature Publishing Group. - 2158-3188. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.
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| 2. |
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| 3. |
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| 4. |
- Clarke, A. L., et al.
(författare)
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Long-Term Trends in Eutrophication and Nutrients in the Coastal Zone
- 2006
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Ingår i: Limnology and Oceanography. - 0024-3590 .- 1939-5590. ; 51:1, s. 385-397
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Tidskriftsartikel (refereegranskat)abstract
- We used high-resolution paleoecological records of environmental change to study the rate and magnitude of eutrophication over the last century in two contrasting coastal ecosystems. A multiproxy approach using geochemical and biological indicators and diatom-based transfer functions provides a long-term perspective on changes in nutrient concentrations and the corresponding biological and sedimentary responses. In Roskilde Fjord, Denmark, total nitrogen (TN) increased 85% during the last century, with the most rapid increase occurring after the 1950s, corresponding to the postwar increase in N fertilizer use. In Laajalahti Bay, an urban embayment near Helsinki, Finland, total dissolved nitrogen (TDN) increased with growing wastewater inputs and decreased with the remedial actions taken to reduce these discharges. These changes are small relative to the order of magnitude increases in nutrient loading that have occurred in northwestern Europe, where the dissolved inorganic nitrogen (DIN) load has increased more than threefold in certain areas.
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| 5. |
- Ellegaard, M., et al.
(författare)
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Dead or alive: sediment DNA archives as tools for tracking aquatic evolution and adaptation
- 2020
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Ingår i: Communications Biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 3:1
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Tidskriftsartikel (refereegranskat)abstract
- DNA can be preserved in marine and freshwater sediments both in bulk sediment and in intact, viable resting stages. Here, we assess the potential for combined use of ancient, environmental, DNA and timeseries of resurrected long-term dormant organisms, to reconstruct trophic interactions and evolutionary adaptation to changing environments. These new methods, coupled with independent evidence of biotic and abiotic forcing factors, can provide a holistic view of past ecosystems beyond that offered by standard palaeoecology, help us assess implications of ecological and molecular change for contemporary ecosystem functioning and services, and improve our ability to predict adaptation to environmental stress. Ellegaard et al. discuss the potential for using ancient environmental DNA (eDNA), combined with resurrection ecology, to analyse trophic interactions and evolutionary adaptation to changing environments. Their Review suggests that these techniques will improve our ability to predict genetic and phenotypic adaptation to environmental stress.
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| 7. |
- Ramstein, B, et al.
(författare)
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H-2(He-3, t)2p reaction at 2 GeV
- 2003
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Ingår i: European Physical Journal A. Hadrons and Nuclei. - : Springer Science and Business Media LLC. - 1434-6001. ; 16:4, s. 583-597
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Tidskriftsartikel (refereegranskat)abstract
- The exclusive H-2 (He-3, t)2p reaction has been studied at 2 GeV for energy transfers up to 500 MeV and triton angles up to 3.4degrees. The protons were measured in the large acceptance magnetic detector DIOGENE, in coincidence with the forward tritons detected in a dedicated magnetic arm. The energy transfer spectra extend well above the pion threshold. However, in the region of Delta excitation, the yield is less than 10% of the inclusive H-2(He-3, t) cross-section, which indicates the small contribution of the DeltaN --> NN process. The angular distributions of the two protons in their center of mass have been analysed as a function of energy transfer and triton angle and a Legendre polynomial decomposition has been achieved. These data have been compared to a model based on a coupled-channel approach for describing the NN and NDelta systems.
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| 8. |
- Alkhazov, GD, et al.
(författare)
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SPES4-pi: installation for exclusive study of nuclear reactions
- 2005
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Ingår i: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - : Elsevier BV. - 0167-5087 .- 0168-9002. ; 551:2-3, s. 290-311
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Tidskriftsartikel (refereegranskat)abstract
- The paper describes the spectrometric system "SPES4-pi" used at the National Laboratory Saturne (CE Saclay, France) for the exclusive study of the baryon resonance excitation in inelastic alpha and d scattering on the proton, as well as coherent pion production in charge exchange reactions. The system consists of the magnetic spectrometer SPES4 and two wide-aperture position-sensitive detector arrays, equipped with wire chambers and scintillator hodoscopes, installed around a large-gap C-shape dipole magnet.
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| 9. |
- Berglund, Eva C., et al.
(författare)
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Rapid diversification by recombination in Bartonella grahamii from wild rodents in Asia contrasts with low levels of genomic divergence in Northern Europe and America
- 2010
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Ingår i: Molecular Ecology. - 0962-1083 .- 1365-294X. ; 19:11, s. 2241-2255
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Tidskriftsartikel (refereegranskat)abstract
- Bartonella is a genus of vector-borne bacteria that infect the red blood cells of mammals, and includes several human-specific and zoonotic pathogens. Bartonella grahamii has a wide host range and is one of the most prevalent Bartonella species in wild rodents. We studied the population structure, genome content and genome plasticity of a collection of 26 B. grahamii isolates from 11 species of wild rodents in seven countries. We found strong geographic patterns, high recombination frequencies and large variations in genome size in B. grahamii compared with previously analysed cat- and human-associated Bartonella species. The extent of sequence divergence in B. grahamii populations was markedly lower in Europe and North America than in Asia, and several recombination events were predicted between the Asian strains. We discuss environmental and demographic factors that may underlie the observed differences.
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| 10. |
- Decaestecker, Ellen, et al.
(författare)
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Candidate innate immune system gene expression in the ecological model Daphnia
- 2011
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Ingår i: Developmental and Comparative Immunology. - : Elsevier BV. - 0145-305X .- 1879-0089. ; 35:10, s. 1066-1075
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Tidskriftsartikel (refereegranskat)abstract
- The last ten years have witnessed increasing interest in host-pathogen interactions involving invertebrate hosts. The invertebrate innate immune system is now relatively well characterised, but in a limited range of genetic model organisms and under a limited number of conditions. Immune systems have been little studied under real-world scenarios of environmental variation and parasitism. Thus, we have investigated expression of candidate innate immune system genes in the water flea Daphnia, a model organism for ecological genetics, and whose capacity for clonal reproduction facilitates an exceptionally rigorous control of exposure dose or the study of responses at many time points. A unique characteristic of the particular Daphnia clones and pathogen strain combinations used presently is that they have been shown to be involved in specific host-pathogen coevolutionary interactions in the wild. We choose five genes, which are strong candidates to be involved in Daphnia-pathogen interactions, given that they have been shown to code for immune effectors in related organisms. Differential expression of these genes was quantified by qRT-PCR following exposure to the bacterial pathogen Pasteuria ramosa. Constitutive expression levels differed between host genotypes, and some genes appeared to show correlated expression. However, none of the genes appeared to show a major modification of expression level in response to Pasteuria exposure. By applying knowledge from related genetic model organisms (e.g. Drosophila) to models for the study of evolutionary ecology and coevolution (i.e. Daphnia), the candidate gene approach is temptingly efficient. However, our results show that detection of only weak patterns is likely if one chooses target genes for study based on previously identified genome sequences by comparison to homologues from other related organisms. Future work on the Daphnia-Pasteuria system will need to balance a candidate gene approach with more comprehensive approaches to de novo identify immune system genes specific to the Daphnia-Pasteuria interaction.
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