| 1. |
- Bravo, L, et al.
(author)
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- 2021
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swepub:Mat__t
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| 2. |
- Tabiri, S, et al.
(author)
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- 2021
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swepub:Mat__t
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| 3. |
- de Jong, S, et al.
(author)
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
- 2018
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In: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 1, s. 163-
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Journal article (peer-reviewed)abstract
- Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
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| 4. |
- Alcorn, J, et al.
(author)
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Basic instrumentation for Hall A at Jefferson Lab
- 2004
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In: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - : Elsevier BV. - 0167-5087 .- 0168-9002. ; 522:3, s. 294-346
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Journal article (peer-reviewed)abstract
- The instrumentation in Hall A at the Thomas Jefferson National Accelerator Facility was designed to study electro-and photo-induced reactions at very high luminosity and good momentum and angular resolution for at least one of the reaction products. The central components of Hall A are two identical high resolution spectrometers, which allow the vertical drift chambers in the focal plane to provide a momentum resolution of better than 2 x 10(-4). A variety of Cherenkov counters, scintillators and lead-glass calorimeters provide excellent particle identification. The facility has been operated successfully at a luminosity well in excess of 10(38) CM-2 s(-1). The research program is aimed at a variety of subjects, including nucleon structure functions, nucleon form factors and properties of the nuclear medium. (C) 2003 Elsevier B.V. All rights reserved.
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| 5. |
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| 6. |
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| 7. |
- Lammer, H., et al.
(author)
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Geophysical and Atmospheric Evolution of Habitable Planets
- 2010
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In: Astrobiology. - : Mary Ann Liebert Inc. - 1531-1074 .- 1557-8070. ; 10:1, s. 45-68
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Journal article (peer-reviewed)abstract
- The evolution of Earth-like habitable planets is a complex process that depends on the geodynamical and geophysical environments. In particular, it is necessary that plate tectonics remain active over billions of years. These geophysically active environments are strongly coupled to a planet's host star parameters, such as mass, luminosity and activity, orbit location of the habitable zone, and the planet's initial water inventory. Depending on the host star's radiation and particle flux evolution, the composition in the thermosphere, and the availability of an active magnetic dynamo, the atmospheres of Earth-like planets within their habitable zones are differently affected due to thermal and nonthermal escape processes. For some planets, strong atmospheric escape could even effect the stability of the atmosphere.
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| 8. |
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| 9. |
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| 10. |
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| 11. |
- Friedman, James S., et al.
(author)
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Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
- 2009
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 84:6, s. 792-800
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Journal article (peer-reviewed)abstract
- Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina. So far, 18 genes have been identified for autosomal-dominant (ad) RP. Here, we describe an adRP locus (RP42) at chromosome 7p15 through linkage analysis in a six-generation Scandinavian family and identify a disease-causing mutation, c.449G -> A (p.S150N), in exon 6 of the KLHL7 gene. Mutation screening of KLHL7 in 502 retinopathy probands has revealed three different missense mutations in six independent families. KLHL7 is widely expressed, including expression in rod photoreceptors, and encodes a 75 kDa protein of the BTB-Kelch Subfamily within the BTB superfamily. BTB-Kelch proteins have been implicated in ubiquitination through Cullin E3 ligases. Notably, all three putative disease-causing KLHL7 mutations are within a conserved BACK domain; homology modeling suggests that mutant amino acid side chains can potentially fill the cleft between two helices, thereby affecting the ubiquitination complexes. Mutations in an identical region of another BTB-Kelch protein, gigaxonin, have previously been associated with giant axonal neuropathy. Our studies suggest an additional role of the ubiquitin-proteasome protein-degradation pathway in maintaining neuronal health and in disease.
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| 12. |
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| 13. |
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| 14. |
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| 15. |
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| 16. |
- Breuer, L., et al.
(author)
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Assessing the impact of land use change on hydrology by ensemble modeling (LUCHEM). I : Model intercomparison with current land use
- 2009
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In: Advances in Water Resources. - : Elsevier BV. - 0309-1708 .- 1872-9657. ; 32:2, s. 129-146
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Journal article (peer-reviewed)abstract
- This paper introduces the project on 'Assessing the impact of land use change on hydrology by ensemble modeling (LUCHEM)' that aims at investigating the envelope of predictions on changes in hydrological fluxes due to land use change. As part of a series of four papers, this paper outlines the motivation and setup of LUCHEM, and presents a model intercomparison for the present-day simulation results. Such an intercomparison provides a valuable basis to investigate the effects of different model structures on model predictions and paves the ground for the analysis of the performance of multi-model ensembles and the reliability of the scenario predictions in companion papers. in this study, we applied a set of 10 lumped, semi-lumped and fully distributed hydrological models that have been previously used in land use change studies to the low mountainous Dill catchment. Germany. Substantial differences in model performance were observed with Nash-Sutcliffe efficiencies ranging from 0.53 to 0.92. Differences in model performance were attributed to (1) model input data, (2) model calibration and (3) the physical basis of the models. The models were applied with two sets of input data: an original and a homogenized data set. This homogenization of precipitation, temperature and leaf area index was performed to reduce the variation between the models. Homogenization improved the comparability of model simulations and resulted in a reduced average bias, although some variation in model data input remained. The effect of the physical differences between models on the long-term water balance was mainly attributed to differences in how models represent evapotranspiration. Semi-lumped and lumped conceptual models slightly outperformed the fully distributed and physically based models. This was attributed to the automatic model calibration typically used for this type of models. Overall, however, we conclude that there was no superior model if several measures of model performance are considered and that all models are suitable to participate in further multi-model ensemble set-ups and land use change scenario investigations.
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| 17. |
- Huisman, J. A., et al.
(author)
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Assessing the impact of land use change on hydrology by ensemble modeling (LUCHEM) III : Scenario analysis
- 2009
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In: Advances in Water Resources. - : Elsevier BV. - 0309-1708 .- 1872-9657. ; 32:2, s. 159-170
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Journal article (peer-reviewed)abstract
- An ensemble of 10 hydrological models was applied to the same set of land use change scenarios. There was general agreement about the direction of changes in the mean annual discharge and 90% discharge percentile predicted by the ensemble members, although a considerable range in the magnitude of predictions for the scenarios and catchments under consideration was obvious. Differences in the magnitude of the increase were attributed to the different mean annual actual evapotranspiration rates for each land use type. The ensemble of model runs was further analyzed with deterministic and probabilistic ensemble methods. The deterministic ensemble method based on a trimmed mean resulted in a single somewhat more reliable scenario prediction. The probabilistic reliability ensemble averaging (REA) method allowed a quantification of the model structure uncertainty in the scenario predictions. It was concluded that the use of a model ensemble has greatly increased our confidence in the reliability of the model predictions.
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| 18. |
- Kelly, J. J., et al.
(author)
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Recoil polarization measurements for neutral pion electroproduction at Q(2)=1(GeV/c)(2) near the Delta resonance
- 2007
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In: Physical Review C (Nuclear Physics). - 0556-2813. ; 75:2
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Journal article (peer-reviewed)abstract
- We measured angular distributions of differential cross section, beam analyzing power, and recoil polarization for neutral pion electroproduction at Q(2)=1.0 (GeV/c)(2) in 10 bins of 1.17 <= W <= 1.35 GeV across the Delta resonance. A total of 16 independent response functions were extracted, of which 12 were observed for the first time. Comparisons with recent model calculations show that response functions governed by real parts of interference products are determined relatively well near the physical mass, W=M-Delta approximate to 1.232 GeV, but the variation among models is large for response functions governed by imaginary parts, and for both types of response functions, the variation increases rapidly with W > M-Delta. We performed a multipole analysis that adjusts suitable subsets of center dot(pi)<= 2 amplitudes with higher partial waves constrained by baseline models. This analysis provides both real and imaginary parts. The fitted multipole amplitudes are nearly model independent-there is very little sensitivity to the choice of baseline model or truncation scheme. By contrast, truncation errors in the traditional Legendre analysis of N ->Delta quadrupole ratios are not negligible. Parabolic fits to the W dependence around M-Delta for the multiple analysis gives values for Re(S1+/M1+)=(-6.61 +/- 0.18)% and Re(E1+/M1+)=(-2.87 +/- 0.19)% for the p pi(0) channel at W=1.232 GeV and Q(2)=1.0 (GeV/c)(2) that are distinctly larger than those from the Legendre analysis of the same data. Similarly, the multipole analysis gives Re(S0+/M1+)=(+7.1 +/- 0.8)% at W=1.232 GeV, consistent with recent models, while the traditional Legendre analysis gives the opposite sign because its truncation errors are quite severe.
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| 19. |
- Langlais, B., et al.
(author)
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Mars environment and magnetic orbiter model payload
- 2009
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In: Experimental astronomy. - : Springer Science and Business Media LLC. - 0922-6435 .- 1572-9508. ; 23:3, s. 761-783
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Journal article (peer-reviewed)abstract
- Mars Environment and Magnetic Orbiter was proposed as an answer to the Cosmic Vision Call of Opportunity as a M-class mission. The MEMO mission is designed to study the strong interconnections between the planetary interior, atmosphere and solar conditions essential to understand planetary evolution, the appearance of life and its sustainability. MEMO provides a high-resolution, complete, mapping of the magnetic field (below an altitude of about 250 km), with an yet unachieved full global coverage. This is combined with an in situ characterization of the high atmosphere and remote sensing of the middle and lower atmospheres, with an unmatched accuracy. These measurements are completed by an improved detection of the gravity field signatures associated with carbon dioxide cycle and to the tidal deformation. In addition the solar wind, solar EUV/UV and energetic particle fluxes are simultaneously and continuously monitored. The challenging scientific objectives of the MEMO mission proposal are fulfilled with the appropriate scientific instruments and orbit strategy. MEMO is composed of a main platform, placed on a elliptical (130 x 1,000 km), non polar (77A degrees inclination) orbit, and of an independent, higher apoapsis (10,000 km) and low periapsis (300 km) micro-satellite. These orbital parameters are designed so that the scientific return of MEMO is maximized, in terms of measurement altitude, local time, season and geographical coverage. MEMO carry several suites of instruments, made of an 'exospheric-upper atmosphere' package, a 'magnetic field' package, and a 'low-middle atmosphere' package. Nominal mission duration is one Martian year.
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| 20. |
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| 21. |
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| 22. |
- Viney, N. R., et al.
(author)
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Assessing the impact of land use change on hydrology by ensemble modelling (LUCHEM) II : Ensemble combinations and predictions
- 2009
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In: Advances in Water Resources. - : Elsevier BV. - 0309-1708 .- 1872-9657. ; 32:2, s. 147-158
-
Journal article (peer-reviewed)abstract
- This paper reports on a project to compare predictions from a range of catchment models applied to a mesoscale river basin in central Germany and to assess various ensemble predictions of catchment streamflow. The models encompass a large range in inherent complexity and input requirements. In approximate order of decreasing complexity, they are DHSVM, MIKE-SHE, TOPLATS, WASIM-ETH, SWAT, PRMS, SLURP, HBV, LASCAM and IHACRES. The models are calibrated twice using different sets of input data. The two predictions from each model are then combined by simple averaging to produce a single-model ensemble. The 10 resulting single-model ensembles are combined in various ways to produce multi-model ensemble predictions. Both the single-model ensembles and the multi-model ensembles are shown to give predictions that are generally superior to those of their respective constituent models, both during a 7-year calibration period and a 9-year validation period. This occurs despite a considerable disparity in performance of the individual models. Even the weakest of models is shown to contribute useful information to the ensembles they are part of. The best model combination methods are a trimmed mean (constructed using the central four or six predictions each day) and a weighted mean ensemble (with weights calculated from calibration performance) that places relatively large weights on the better performing models. Conditional ensembles. in which separate model weights are used in different system states (e.g. summer and winter, high and low flows) generally yield little improvement over the weighted mean ensemble. However a conditional ensemble that discriminates between rising and receding flows shows moderate improvement. An analysis of ensemble predictions shows that the best ensembles are not necessarily those containing the best individual models. Conversely, it appears that some models that predict well individually do not necessarily combine well with other models in multi-model ensembles. The reasons behind these observations may relate to the effects of the weighting schemes, non-stationarity of the climate series and possible cross-correlations between models.
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| 23. |
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| 24. |
- Exbrayat, J. -F, et al.
(author)
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Ensemble modelling of nitrogen fluxes : Data fusion for a Swedish meso-scale catchment
- 2010
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In: Hydrology and Earth System Sciences. - : Copernicus GmbH. - 1607-7938 .- 1027-5606. ; 14:12, s. 2383-2397
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Journal article (peer-reviewed)abstract
- Model predictions of biogeochemical fluxes at the landscape scale are highly uncertain, both with respect to stochastic (parameter) and structural uncertainty. In this study 5 different models (LASCAM, LASCAM-S, a selfdeveloped tool, SWAT and HBV-N-D) designed to simulate hydrological fluxes as well as mobilisation and transport of one or several nitrogen species were applied to the mesoscale River Fyris catchment in mid-eastern Sweden. Hydrological calibration against 5 years of recorded daily discharge at two stations gave highly variable results with Nash-Sutcliffe Efficiency (NSE) ranging between 0.48 and 0.83. Using the calibrated hydrological parameter sets, the parameter uncertainty linked to the nitrogen parameters was explored in order to cover the range of possible predictions of exported loads for 3 nitrogen species: nitrate (NO3), ammonium (NH4) and total nitrogen (Tot-N). For each model and each nitrogen species, predictions were ranked in two different ways according to the performance indicated by two different goodness-of-fit measures: the coefficient of determination R2 and the root mean square error RMSE. A total of 2160 deterministic Single Model Ensembles (SME) was generated using an increasing number of members (from the 2 best to the 10 best single predictions). Finally the best SME for each model, nitrogen species and discharge station were selected and merged into 330 different Multi-Model Ensembles (MME). The evolution of changes in R2 and RMSE was used as a performance descriptor of the ensemble procedure. In each studied case, numerous ensemble merging schemes were identified which outperformed any of their members. Improvement rates were generally higher when worse members were introduced. The highest improvements were achieved for the nitrogen SMEs compiled with multiple linear regression models with R2 selected members, which resulted in the RMSE decreasing by up to 90%. © Author(s) 2010.
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| 25. |
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| 26. |
- Exbrayat, J. F., et al.
(author)
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Multi-model data fusion as a tool for PUB : example in a Swedish mesoscale catchment
- 2011
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In: Advances in Geosciences. - : Copernicus Publications. - 1680-7340 .- 1680-7359. ; 29, s. 43-50
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Journal article (peer-reviewed)abstract
- Post-processing the output of different rainfall-runoff models allows one to pool strengths of each model to produce more reliable predictions. As a new approach in the frame of the "Prediction in Ungauged Basins" initiative, this study investigates the geographical transferability of different parameter sets and data-fusion methods which were applied to 5 different rainfall-runoff models for a low-land catchment in Central Sweden. After usual calibration, we adopted a proxy-basin validation approach between two similar but non-nested sub-catchments in order to simulate ungauged conditions. Many model combinations outperformed the best single model predictions with improvements of efficiencies from 0.70 for the best single model predictions to 0.77 for the best ensemble predictions. However no "best" data-fusion method could be determined as similar performances were obtained with different merging schemes. In general, poorer model performance, i.e. lower efficiency, was less likely to occur for ensembles which included more individual models.
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| 27. |
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| 28. |
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| 29. |
- Parreiras, Lucas S., et al.
(author)
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Engineering and two-stage evolution of a lignocellulosic hydrolysate-tolerant Saccharomyces cerevisiae strain for anaerobic fermentation of xylose from AFEX pretreated corn stover
- 2014
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In: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:9
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Journal article (peer-reviewed)abstract
- The inability of the yeast Saccharomyces cerevisiae to ferment xylose effectively under anaerobic conditions is a major barrier to economical production of lignocellulosic biofuels. Although genetic approaches have enabled engineering of S. cerevisiae to convert xylose efficiently into ethanol in defined lab medium, few strains are able to ferment xylose from lignocellulosic hydrolysates in the absence of oxygen. This limited xylose conversion is believed to result from small molecules generated during biomass pretreatment and hydrolysis, which induce cellular stress and impair metabolism. Here, we describe the development of a xylose-fermenting S. cerevisiae strain with tolerance to a range of pretreated and hydrolyzed lignocellulose, including Ammonia Fiber Expansion (AFEX)-pretreated corn stover hydrolysate (ACSH). We genetically engineered a hydrolysate-resistant yeast strain with bacterial xylose isomerase and then applied two separate stages of aerobic and anaerobic directed evolution. The emergent S. cerevisiae strain rapidly converted xylose from lab medium and ACSH to ethanol under strict anaerobic conditions. Metabolomic, genetic and biochemical analyses suggested that a missense mutation in GRE3, which was acquired during the anaerobic evolution, contributed toward improved xylose conversion by reducing intracellular production of xylitol, an inhibitor of xylose isomerase. These results validate our combinatorial approach, which utilized phenotypic strain selection, rational engineering and directed evolution for the generation of a robust S. cerevisiae strain with the ability to ferment xylose anaerobically from ACSH.
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| 30. |
- Piston, Dominik, et al.
(author)
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DJ-1 is a redox sensitive adapter protein for high molecular weight complexes involved in regulation of catecholamine homeostasis
- 2017
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In: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 26:20, s. 4028-4041
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Journal article (peer-reviewed)abstract
- DJ-1 is an oxidation sensitive protein encoded by the PARK7 gene. Mutations in PARK7 are a rare cause of familial recessive Parkinson's disease (PD), but growing evidence suggests involvement of DJ-1 in idiopathic PD. The key clinical features of PD, rigidity and bradykinesia, result from neurotransmitter imbalance, particularly the catecholamines dopamine (DA) and noradrenaline. We report in human brain and human SH-SY5Y neuroblastoma cell lines that DJ-1 predominantly forms high molecular weight (HMW) complexes that included RNA metabolism proteins hnRNPA1 and PABP1 and the glycolysis enzyme GAPDH. In cell culture models the oxidation status of DJ-1 determined the specific complex composition. RNA sequencing indicated that oxidative changes to DJ-1 were concomitant with changes in mRNA transcripts mainly involved in catecholamine metabolism. Importantly, loss of DJ-1 function upon knock down (KD) or expression of the PD associated form L166P resulted in the absence of HMW DJ-1 complexes. In the KD model, the absence of DJ-1 complexes was accompanied by impairment in catecholamine homeostasis, with significant increases in intracellular DA and noraderenaline levels. These changes in catecholamines could be rescued by re-expression of DJ-1. This catecholamine imbalance may contribute to the particular vulnerability of dopaminergic and noradrenergic neurons to neurodegeneration in PARK7-related PD. Notably, oxidised DJ-1 was significantly decreased in idiopathic PD brain, suggesting altered complex function may also play a role in the more common sporadic form of the disease.
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| 31. |
- Popescu, A., et al.
(author)
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Increasing transparency and privacy for online social network users – USEMP value model, scoring framework and legal
- 2016
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In: Privacy Technologies and Policy. - Cham : Encyclopedia of Global Archaeology/Springer Verlag. - 9783319314556 - 9783319314563 ; , s. 38-59
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Conference paper (peer-reviewed)abstract
- In this paper we present research results from the multi-disciplinary EU research project USEMP (USEMP is a project funded from EU research framework, additional information about project scope and deliverables are available at project’s public website at: http://www.usemp-project.eu/). In particular, we look at the legal aspects of personal data licensing and profile transparency, the development of a personal data value model in Online Social Networks (OSNs) and the development of disclosure scoring and personal data value frameworks. In the first part of the paper we show how personal data usage licensing and profile transparency for OSN activities provides for Data Protection by Design (DPbD). We also present an overview of the existing personal data monetization ecosystem in OSNs and its possible evolutions for increasing privacy and transparency for consumers about their OSN presence. In the last part of the paper, we describe the USEMP scoring framework for personal information disclosure and data value that can assist users to better perceive how their privacy is affected by their OSN presence and what the value of their OSN activities is.
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| 32. |
- Schewe, Jacob, et al.
(author)
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State-of-the-art global models underestimate impacts from climate extremes
- 2019
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10
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Journal article (peer-reviewed)abstract
- Global impact models represent process-level understanding of how natural and human systems may be affected by climate change. Their projections are used in integrated assessments of climate change. Here we test, for the first time, systematically across many important systems, how well such impact models capture the impacts of extreme climate conditions. Using the 2003 European heat wave and drought as a historical analogue for comparable events in the future, we find that a majority of models underestimate the extremeness of impacts in important sectors such as agriculture, terrestrial ecosystems, and heat-related human mortality, while impacts on water resources and hydropower are overestimated in some river basins; and the spread across models is often large. This has important implications for economic assessments of climate change impacts that rely on these models. It also means that societal risks from future extreme events may be greater than previously thought.
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| 33. |
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