| 1. |
- 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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| 2. |
- Locke, Adam E, et al.
(författare)
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Genetic studies of body mass index yield new insights for obesity biology.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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| 3. |
- Neugart, Susanne, et al.
(författare)
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A synchronized, large-scale field experiment using Arabidopsis thaliana reveals the significance of the UV-B photoreceptor UVR8 under natural conditions
- 2024
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Ingår i: Plant, Cell and Environment. - : Blackwell Publishing. - 0140-7791 .- 1365-3040.
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Tidskriftsartikel (refereegranskat)abstract
- This study determines the functional role of the plant ultraviolet-B radiation (UV-B) photoreceptor, UV RESISTANCE LOCUS 8 (UVR8) under natural conditions using a large-scale 'synchronized-genetic-perturbation-field-experiment'. Laboratory experiments have demonstrated a role for UVR8 in UV-B responses but do not reflect the complexity of outdoor conditions where 'genotype × environment' interactions can mask laboratory-observed responses. Arabidopsis thaliana knockout mutant, uvr8-7, and the corresponding Wassilewskija wild type, were sown outdoors on the same date at 21 locations across Europe, ranging from 39°N to 67°N latitude. Growth and climatic data were monitored until bolting. At the onset of bolting, rosette size, dry weight, and phenolics and glucosinolates were quantified. The uvr8-7 mutant developed a larger rosette and contained less kaempferol glycosides, quercetin glycosides and hydroxycinnamic acid derivatives than the wild type across all locations, demonstrating a role for UVR8 under field conditions. UV effects on rosette size and kaempferol glycoside content were UVR8 dependent, but independent of latitude. In contrast, differences between wild type and uvr8-7 in total quercetin glycosides, and the quercetin-to-kaempferol ratio decreased with increasing latitude, that is, a more variable UV response. Thus, the large-scale synchronized approach applied demonstrates a location-dependent functional role of UVR8 under natural conditions.
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| 4. |
- Shungin, Dmitry, et al.
(författare)
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New genetic loci link adipose and insulin biology to body fat distribution.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 187-378
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Tidskriftsartikel (refereegranskat)abstract
- Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
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| 5. |
- Aurino, Pier Paolo, 1985, et al.
(författare)
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Nano-patterning of the electron gas at the LaAlO3/SrTiO3 interface using low-energy ion beam irradiation
- 2013
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Ingår i: Applied Physics Letters. - : AIP Publishing. - 0003-6951 .- 1077-3118. ; 102:20, s. 201610-
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Tidskriftsartikel (refereegranskat)abstract
- The quasi-two dimensional electron gas formed at the interface between LaAlO3 (LAO) and SrTiO3 (STO) shows fascinating properties, such as two-dimensional superconductivity, giant electric field effect, and the possible co-existence of ferromagnetic and superconducting phases. In this work, we demonstrate that the conducting LAO/STO interface can be made insulating after short irradiation by a beam of low energy Ar+ ions. The irradiation process does neither result in physical removal of the LAO film nor produces oxygen vacancies in the STO layer. Using electron beam lithography and low ion beam energy irradiation, we fabricated conducting nano-structures in the LAO/STO interface with dimensions down to 50 nm. Such a reliable and robust method of nano-patterning may be a prerequisite for future electronic applications of the LAO/STO interface.
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| 6. |
- Aurino, Pier Paolo, 1985, et al.
(författare)
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Reversible metal-insulator transition of Ar-irradiated LaAlO3/SrTiO3 interfaces
- 2015
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Ingår i: Physical Review B - Condensed Matter and Materials Physics. - 2469-9950 .- 2469-9969. ; 92:15
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Tidskriftsartikel (refereegranskat)abstract
- The conducting state of a quasi-two-dimensional electron gas (q2DEG), formed at the heterointerface between the two wide-bandgap insulators LaAlO3 (LAO) and SrTiO3, can be made completely insulating by low-energy, 150-eV, Ar+ irradiation. The metallic behavior of the interface can be recovered by high-temperature oxygen annealing. The electrical transport properties of the recovered q2DEG are exactly the same as before the irradiation. Microstructural investigations confirm that the transition is not due to physical etching or crystal lattice distortion of the LAO film below its critical thickness. They also reveal a correlation between electrical state, LAO film surface amorphization, and argon ion implantation. The experimental results are in agreement with density functional theory calculations of Ar implantation and migration in the LAO film. This suggests that the metal-insulator transition may be caused by charge trapping in the defect amorphous layer created during the ion irradiation.
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| 7. |
- Bejerot, Eva, et al.
(författare)
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Öppna jämförelser av arbetsmiljö på Internet : Vinster och risker för forskare, respondenter och andra intressenter
- 2011
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- En prototyp för ett rapporteringsverktyg som gör det möjligt för forskare att dela med sig och visualisera data för sina målgrupper via Internet har tagits fram i ett pågående forskningsprojekt. Med detta verktyg kan forskningsresultat baserade på enkätdata redovisas med en hög detaljeringsgrad och användarna kan enkelt jämföra arbetsvillkor för undergrupper: olika arbetsgivare, geografiska områden etcetera. Prototypen som vi skapat kan konceptuellt delas upp i två delar: 1) Ett verktyg som används för att skapa webbplatser för visualisering av stora datamängder. Det är designat för att kunna användas för vitt skilda forskningsprojekt. 2) En webbplats som visualiserar forskningsresultat från en specifik enkätstudie och demonstrerar vad som är möjligt att göra med hjälp av verktyget. Med verktyget presenteras data i form av stapeldiagram och medelvärden direkt på Internet. Designen gör det möjligt att kombinera stora enkätmaterials potential för jämförelser mellan olika undergrupper, arbetsgivare, geografiska områden etcetera. Här kan data re-analyseras och tolkas av dem med kunskap om lokala/regionala förhållanden. Detta gör det möjligt att använda resultaten av större enkätstudier i exempelvis lokalt förbättringsarbete eller i någon form av interaktivt forskningsarbete. Medial uppmärksamhet, särskilt på de platser där resultaten avviker negativt från genomsnittet, kan bidra till ett omvandlingstryck (jfr SKL & Socialstyrelsen 2007). Verktyget programmeras i öppen källkod och blir fritt att använda, reproducera, modifiera och utveckla för envar, enligt principerna i ”open-source”-rörelsen (Stallman 2010). Projektet utvecklas enligt en så kallad ”katedralmodell” (Raymond 1999) där en ”open-source-release” görs när vi arbetat med projektet en tid. Verktyget kommer att följas upp genom att dess för- och nackdelar diskuteras med målgrupp och intressenter. För arbetslivsforskare finns många frågor om vad denna typ av verktyg kan innebära. Vilka vinster respektive problem och risker finns i ”öppna jämförelser av arbetsmiljö”? Hur påverkas viljan att besvara enkäter då en snabbare och mer detaljerad återkoppling är möjlig? Vilka frågor måste ställas kring upphovsrätt då data kan re-analyseras av andra? Hur vi kan designa våra forskningsprojekt för att ta tillvara, eller begränsa, det som informationstekniken möjliggör?
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| 8. |
- Berndt, Sonja I., et al.
(författare)
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69
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Tidskriftsartikel (refereegranskat)abstract
- Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
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| 9. |
- Biurrun, Idoia, et al.
(författare)
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Benchmarking plant diversity of Palaearctic grasslands and other open habitats
- 2021
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Ingår i: Journal of Vegetation Science. - Oxford : John Wiley & Sons. - 1100-9233 .- 1654-1103. ; 32:4
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Tidskriftsartikel (refereegranskat)abstract
- Journal of Vegetation Science published by John Wiley & Sons Ltd on behalf of International Association for Vegetation Science.Aims: Understanding fine-grain diversity patterns across large spatial extents is fundamental for macroecological research and biodiversity conservation. Using the GrassPlot database, we provide benchmarks of fine-grain richness values of Palaearctic open habitats for vascular plants, bryophytes, lichens and complete vegetation (i.e., the sum of the former three groups). Location: Palaearctic biogeographic realm. Methods: We used 126,524 plots of eight standard grain sizes from the GrassPlot database: 0.0001, 0.001, 0.01, 0.1, 1, 10, 100 and 1,000 m2 and calculated the mean richness and standard deviations, as well as maximum, minimum, median, and first and third quartiles for each combination of grain size, taxonomic group, biome, region, vegetation type and phytosociological class. Results: Patterns of plant diversity in vegetation types and biomes differ across grain sizes and taxonomic groups. Overall, secondary (mostly semi-natural) grasslands and natural grasslands are the richest vegetation type. The open-access file ”GrassPlot Diversity Benchmarks” and the web tool “GrassPlot Diversity Explorer” are now available online (https://edgg.org/databases/GrasslandDiversityExplorer) and provide more insights into species richness patterns in the Palaearctic open habitats. Conclusions: The GrassPlot Diversity Benchmarks provide high-quality data on species richness in open habitat types across the Palaearctic. These benchmark data can be used in vegetation ecology, macroecology, biodiversity conservation and data quality checking. While the amount of data in the underlying GrassPlot database and their spatial coverage are smaller than in other extensive vegetation-plot databases, species recordings in GrassPlot are on average more complete, making it a valuable complementary data source in macroecology. © 2021 The Authors.
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| 10. |
- de Jong, Roelof S., et al.
(författare)
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4MOST-4-metre Multi-Object Spectroscopic Telescope
- 2014
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Ingår i: Ground-based and Airborne Instrumentation for Astronomy V. - : SPIE. - 0277-786X .- 1996-756X. ; 9147
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Konferensbidrag (refereegranskat)abstract
- 4MOST is a wide-field, high-multiplex spectroscopic survey facility under development for the VISTA telescope of the European Southern Observatory (ESO). Its main science drivers are in the fields of galactic archeology, high-energy physics, galaxy evolution and cosmology. 4MOST will in particular provide the spectroscopic complements to the large area surveys coming from space missions like Gaia, eROSITA, Euclid, and PLATO and from ground-based facilities like VISTA, VST, DES, LSST and SKA. The 4MOST baseline concept features a 2.5 degree diameter field-of-view with similar to 2400 fibres in the focal surface that are configured by a fibre positioner based on the tilting spine principle. The fibres feed two types of spectrographs; similar to 1600 fibres go to two spectrographs with resolution R> 5000 (lambda similar to 390-930 nm) and similar to 800 fibres to a spectrograph with R> 18,000 (lambda similar to 392-437 nm & 515-572 nm & 605-675 nm). Both types of spectrographs are fixed-configuration, three-channel spectrographs. 4MOST will have an unique operations concept in which 5 year public surveys from both the consortium and the ESO community will be combined and observed in parallel during each exposure, resulting in more than 25 million spectra of targets spread over a large fraction of the southern sky. The 4MOST Facility Simulator (4FS) was developed to demonstrate the feasibility of this observing concept. 4MOST has been accepted for implementation by ESO with operations expected to start by the end of 2020. This paper provides a top-level overview of the 4MOST facility, while other papers in these proceedings provide more detailed descriptions of the instrument concept[1], the instrument requirements development[2], the systems engineering implementation[3], the instrument model[4], the fibre positioner concepts[5], the fibre feed[6], and the spectrographs[7].
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