| 1. |
- Craddock, Nick, et al.
(författare)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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| 2. |
- Kamata, Yohei, et al.
(författare)
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Hydration and Ordering of Lamellar Block Copolymer Films under Controlled Water Vapor
- 2014
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Ingår i: Macromolecules. - : American Chemical Society (ACS). - 0024-9297 .- 1520-5835. ; 47:24, s. 8682-8690
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Tidskriftsartikel (refereegranskat)abstract
- Amphiphilic block copolymers within a range of volume fraction spontaneously form vesicles in aqueous solution, where a water core is enclosed by a polymer bilayer. Thin-film rehydration is a method used to produce vesicles routinely; a thin film is immersed in water, the film swells, and vesicles are formed which bleb off from the film surface. We have studied the early stages of hydration for PEOPBO block copolymer thin films under controlled water vapor conditions to understand this formation mechanism and so enable more efficient ways to encapsulate molecules using this method. Neutron and X-ray measurements show that the initial film exhibits weakly ordered structure with isotropic parallel and vertical orientation; the films initially swell and maintain the same orientation. At a critical point the layer swells rapidly and makes highly ordered lamellae structure at the same time. The lamellae are almost exclusively oriented parallel to the substrate and swell with increasing water absorption.
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| 3. |
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| 4. |
- Zhang, Jiangbin, et al.
(författare)
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Efficient non-fullerene organic solar cells employing sequentially deposited donor-acceptor layers
- 2018
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Ingår i: Journal of Materials Chemistry A. - : ROYAL SOC CHEMISTRY. - 2050-7488 .- 2050-7496. ; 6:37, s. 18225-18233
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Tidskriftsartikel (refereegranskat)abstract
- Non-fullerene acceptors (NFAs) have recently outperformed their fullerene counterparts in binary bulk-heterojunction (BHJ) organic solar cells (OSCs). Further development of NFA OSCs may benefit other novel OSC device structures that alter or extend the standard BHJ concept. Here, we report such a new processing route that forms a BHJ-like morphology between sequentially processed polymer donor and NFA with high power conversion efficiencies in excess of 10%. Both devices show similar charge generation and recombination behaviours, supporting formation of similar BHJ active layers. We correlate the approximate to 30 meV smaller open-circuit voltage in sq-BHJ devices to more substantial non-radiative recombination by voltage loss analysis. We also determine the exciton diffusion length of benchmark polymer PBDB-T to be 10 +/- 3 nm. Our results demonstrate high-efficiency OSC devices using sequential deposition method and provide new opportunities to further improve performance of state-of-the-art OSCs.
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| 5. |
- Davies, Neil, et al.
(författare)
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The founding charter of the Genomic Observatories Network
- 2014
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Ingår i: GigaScience. - 2047-217X. ; 3:2
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Tidskriftsartikel (refereegranskat)abstract
- Abstract The co-authors of this paper hereby state their intention to work together to launch the Genomic Observatories Network (GOs Network) for which this document will serve as its Founding Charter. We define a Genomic Observatory as an ecosystem and/or site subject to long-term scientific research, including (but not limited to) the sustained study of genomic biodiversity from single-celled microbes to multicellular organisms.An international group of 64 scientists first published the call for a global network of Genomic Observatories in January 2012. The vision for such a network was expanded in a subsequent paper and developed over a series of meetings in Bremen (Germany), Shenzhen (China), Moorea (French Polynesia), Oxford (UK), Pacific Grove (California, USA), Washington (DC, USA), and London (UK). While this community-building process continues, here we express our mutual intent to establish the GOs Network formally, and to describe our shared vision for its future. The views expressed here are ours alone as individual scientists, and do not necessarily represent those of the institutions with which we are affiliated.
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| 6. |
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| 7. |
- Hernández, Armand, et al.
(författare)
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Modes of climate variability : Synthesis and review of proxy-based reconstructions through the Holocene
- 2020
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Ingår i: Earth-Science Reviews. - : Elsevier BV. - 0012-8252. ; 209
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Forskningsöversikt (refereegranskat)abstract
- Modes of climate variability affect global and regional climates on different spatio-temporal scales, and they have important impacts on human activities and ecosystems. As these modes are a useful tool for simplifying the understanding of the climate system, it is crucial that we gain improved knowledge of their long-term past evolution and interactions over time to contextualise their present and future behaviour. We review the literature focused on proxy-based reconstructions of modes of climate variability during the Holocene (i.e., the last 11.7 thousand years) with a special emphasis on i) proxy-based reconstruction methods; ii) available proxy-based reconstructions of the main modes of variability, i.e., El Niño Southern Oscillation, Pacific Decadal Variability, Atlantic Multidecadal Variability, the North Atlantic Oscillation, the Southern Annular Mode and the Indian Ocean Dipole; iii) major interactions between these modes; and iv) external forcing mechanisms related to the evolution of these modes. This review shows that modes of variability can be reconstructed using proxy-based records from a wide range of natural archives, but these reconstructions are scarce beyond the last millennium, partly due to the lack of robust chronologies with reduced dating uncertainties, technical issues related to proxy calibration, and difficulty elucidating their stationary impact (or not) on regional climates over time. While for each mode the available reconstructions tend to agree at mutidecadal timescales, they show notable disagreement on shorter timescales beyond the instrumental period. The reviewed evidence suggests that the intrinsic variability of modes can be modulated by external forcing, such as orbital, solar, volcanic, and anthropogenic forcing. The review also highlights some modes experience higher variability over the instrumental period, which is partly ascribed to anthropogenic forcing. These features stress the paramount importance of further studying their past variations using long climate-proxy records for the progress of climate science.
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| 8. |
- Janas, Katarzyna, et al.
(författare)
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Differential effects of early growth conditions on colour-producing nanostructures revealed through small angle X-ray scattering and electron microscopy
- 2020
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Ingår i: Journal of Experimental Biology. - : COMPANY BIOLOGISTS LTD. - 0022-0949 .- 1477-9145. ; 223:18
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Tidskriftsartikel (refereegranskat)abstract
- The costs associated with the production and maintenance of colour patches is thought to maintain their honesty. Although considerable research on sexual selection has focused on structurally coloured plumage ornaments, the proximate mechanisms of their potential condition dependence, and thus their honesty, is rarely addressed, particularly in an experimental context. Blue tit (Cyanistes caeruleus) nestlings have ultraviolet (UV)-blue structurally coloured tail feathers, providing a unique opportunity for investigation of the causes of variation in their colour. Here, we examined the influence of early growing conditions on the reflectance and structural properties of UV-blue-coloured tail feathers of blue tit nestlings. We applied a two-stage brood size manipulation to determine which stage of development more strongly impacts the quality of tail feather colouration and microstructure. We used small-angle X-ray scattering (SAXS) and electron microscopy to characterise the nanoscale and microscale structure of tail feather barbs. Nestlings from the broods enlarged at a later stage of growth showed a sex-specific rectrix development delay, with males being more sensitive to this manipulation. Contrary to predictions, treatment affected neither the quality of the barbs' nanostructures nor the brightness and UV chroma of feathers. However. at the microscale. barbs' keratin characteristics were impaired in late-enlarged broods. Our results suggest that nanostructure quality, which determines the UV-blue colour in tail feathers, is not sensitive to early rearing conditions. Furthermore, availability of resources during feather growth seems to impact the quality of feather microstructure more than body condition, which is likely to be determined at an earlier stage of nestling growth.
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| 9. |
- Kuang Soh, Wuu, et al.
(författare)
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Rising CO2 drives divergence in water use efficiency of evergreen and deciduous plants
- 2019
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Ingår i: Science Advances. - : American Association for the Advancement of Science (AAAS). - 2375-2548. ; 5:12
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Tidskriftsartikel (refereegranskat)abstract
- Intrinsic water use efficiency (iWUE), defined as the ratio of photosynthesis to stomatal conductance, is a key variable in plant physiology and ecology. Yet, how rising atmospheric CO2 concentration affects iWUE at broad species and ecosystem scales is poorly understood. In a field-based study of 244 woody angiosperm species across eight biomes over the past 25 years of increasing atmospheric CO2 (similar to 45 ppm), we show that iWUE in evergreen species has increased more rapidly than in deciduous species. Specifically, the difference in iWUE gain between evergreen and deciduous taxa diverges along a mean annual temperature gradient from tropical to boreal forests and follows similar observed trends in leaf functional traits such as leaf mass per area. Synthesis of multiple lines of evidence supports our findings. This study provides timely insights into the impact of Anthropocene climate change on forest ecosystems and will aid the development of next-generation trait-based vegetation models.
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| 10. |
- Murray, Michelle, et al.
(författare)
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Convergence in Maximum Stomatal Conductance of C-3 Woody Angiosperms in Natural Ecosystems Across Bioclimatic Zones
- 2019
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Ingår i: Frontiers in Plant Science. - : Frontiers Media SA. - 1664-462X. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- Stomatal conductance (g(s)) in terrestrial vegetation regulates the uptake of atmospheric carbon dioxide for photosynthesis and water loss through transpiration, closely linking the biosphere and atmosphere and influencing climate. Yet, the range and pattern of g(s) in plants from natural ecosystems across broad geographic, climatic, and taxonomic ranges remains poorly quantified. Furthermore, attempts to characterize g(s) on such scales have predominantly relied upon meta-analyses compiling data from many different studies. This approach may be inherently problematic as it combines data collected using unstandardized protocols, sometimes over decadal time spans, and from different habitat groups. Using a standardized protocol, we measured leaf-level g(s) using porometry in 218 C-3 woody angiosperm species in natural ecosystems representing seven bioclimatic zones. The resulting dataset of 4273 g(s) measurements, which we call STraits (Stomatal Traits), was used to determine patterns in maximum g(s) (g(smax)) across bioclimatic zones and whether there was similarity in the mean g(smax) of C3 woody angiosperms across ecosystem types. We also tested for differential g(smax) in two broadly defined habitat groups - open-canopy and understory-subcanopy - within and across bioclimatic zones. We found strong convergence in mean g(smax) of C3 woody angiosperms in the understory-subcanopy habitats across six bioclimatic zones, but not in open-canopy habitats. Mean g(smax) in open-canopy habitats (266 +/- 100 mmol m(-2) s(-1)) was significantly higher than in understory-subcanopy habitats (233 +/- 86 mmol m(-2) s(-1)). There was also a central tendency in the overall dataset to operate toward a g(smax) of similar to 250 mmol m(-2) s(-1). We suggest that the observed convergence in mean g(smax) of C3 woody angiosperms in the understory-subcanopy is due to a buffering of g(smax) against macroclimate effects which will lead to differential response of C3 woody angiosperm vegetation in these two habitats to future global change. Therefore, it will be important for future studies of g(smax) to categorize vegetation according to habitat group.
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