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A catalog of genetic loci associated with kidney function from analyses of a million individuals
(2019)
Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
Understanding animal movement is essential to elucidate how animals interact, survive, and thrive in a changing world. Recent technological advances in data collection and management have transformed our understanding of animal "movement ecology" (the integrated study of organismal movement), creating a big-data discipline that benefits from rapid, cost-effective generation of large amounts of data on movements of animals in the wild. These high-throughput wildlife tracking systems now allow more thorough investigation of variation among individuals and species across space and time, the nature of biological interactions, and behavioral responses to the environment. Movement ecology is rapidly expanding scientific frontiers through large interdisciplinary and collaborative frameworks, providing improved opportunities for conservation and insights into the movements of wild animals, and their causes and consequences.
The Dead Sea region has faced substantial environmental challenges in recent decades, including water resource scarcity, similar to 1 m annual decreases in the water level, sinkhole development, ascending-brine freshwater pollution, and seismic disturbance risks. Natural processes are significantly affected by human interference as well as by climate change and tectonic developments over the long term. To get a deep understanding of processes and their interactions, innovative scientific approaches that integrate disciplinary research and education are required. The research project DESERVE (Helmholtz Virtual Institute Dead Sea Research Venue) addresses these challenges in an interdisciplinary approach that includes geophysics, hydrology, and meteorology. The project is implemented by a consortium of scientific institutions in neighboring countries of the Dead Sea (Israel, Jordan, Palestine Territories) and participating German Helmholtz Centres (KIT, GFZ, UFZ). A new monitoring network of meteorological, hydrological, and seismic/geodynamic stations has been established, and extensive field research and numerical simulations have been undertaken. For the first time, innovative measurement and modeling techniques have been applied to the extreme conditions of the Dead Sea and its surroundings. The preliminary results show the potential of these methods. First time ever performed eddy covariance measurements give insight into the governing factors of Dead Sea evaporation. High-resolution bathymetric investigations reveal a strong correlation between submarine springs and neo-tectonic patterns. Based on detailed studies of stratigraphy and borehole information, the extension of the subsurface drainage basin of the Dead Sea is now reliably estimated. Originality has been achieved in monitoring flash floods in an arid basin at its outlet and simultaneously in tributaries, supplemented by spatio-temporal rainfall data. Low-altitude, high resolution photogrammetry, allied to satellite image analysis and to geophysical surveys (e.g. shear-wave reflections) has enabled a more detailed characterization of sinkhole morphology and temporal development and the possible subsurface controls thereon. All the above listed efforts and scientific results take place with the interdisciplinary education of young scientists. They are invited to attend joint thematic workshops and winter schools as well as to participate in field experiments. (C) 2015 The Authors. Published by Elsevier B.V.
River ecosystems receive and process vast quantities of terrestrial organic carbon, the fate of which depends strongly on microbial activity. Variation in and controls of processing rates, however, are poorly characterized at the global scale. In response, we used a peer-sourced research network and a highly standardized carbon processing assay to conduct a global-scale field experiment in greater than 1000 river and riparian sites. We found that Earth’s biomes have distinct carbon processing signatures. Slow processing is evident across latitudes, whereas rapid rates are restricted to lower latitudes. Both the mean rate and variability decline with latitude, suggesting temperature constraints toward the poles and greater roles for other environmental drivers (e.g., nutrient loading) toward the equator. These results and data set the stage for unprecedented “next-generation biomonitoring” by establishing baselines to help quantify environmental impacts to the functioning of ecosystems at a global scale.
The photochemical ring-opening of 1,3-cyclohexadiene imaged by ultrafast electron diffraction
(2019)
The ultrafast photoinduced ring-opening of 1,3-cyclohexadiene constitutes a textbook example of electrocyclic reactions in organic chemistry and a model for photobiological reactions in vitamin D synthesis. Although the relaxation from the photoexcited electronic state during the ring-opening has been investigated in numerous studies, the accompanying changes in atomic distance have not been resolved. Here we present a direct and unambiguous observation of the ring-opening reaction path on the femtosecond timescale and subangstrom length scale using megaelectronvolt ultrafast electron diffraction. We followed the carbon-carbon bond dissociation and the structural opening of the 1,3-cyclohexadiene ring by the direct measurement of time-dependent changes in the distribution of interatomic distances. We observed a substantial acceleration of the ring-opening motion after internal conversion to the ground state due to a steepening of the electronic potential gradient towards the product minima. The ring-opening motion transforms into rotation of the terminal ethylene groups in the photoproduct 1,3,5-hexatriene on the subpicosecond timescale.
A comprehensive molecular analysis of a simple aqueous complexing system. U(VI) acetate. selected to be independently investigated by various spectroscopic (vibrational, luminescence, X-ray absorption, and nuclear magnetic resonance spectroscopy) and quantum chemical methods was achieved by an international round-robin test (RRT). Twenty laboratories from six different countries with a focus on actinide or geochemical research participated and contributed to this scientific endeavor. The outcomes of this RRT were considered on two levels of complexity: first, within each technical discipline, conformities as well as discrepancies of the results and their sources were evaluated. The raw data from the different experimental approaches were found to be generally consistent. In particular, for complex setups such as accelerator-based X-ray absorption spectroscopy, the agreement between the raw data was high. By contrast, luminescence spectroscopic data turned out to be strongly related to the chosen acquisition parameters. Second, the potentials and limitations of coupling various spectroscopic and theoretical approaches for the comprehensive study of actinide molecular complexes were assessed. Previous spectroscopic data from the literature were revised and the benchmark data on the U(VI) acetate system provided an unambiguous molecular interpretation based on the correlation of spectroscopic and theoretical results. The multimethodologic approach and the conclusions drawn address not only important aspects of actinide spectroscopy but particularly general aspects of modern molecular analytical chemistry.
We report on the first multi-colour precision light curve of the bright Wolf-Rayet binary gamma(2) Velorum, obtained over six months with the nanosatellites in the BRITE-Constellation fleet. In parallel, we obtained 488 high-resolution optical spectra of the system. In this first report on the data sets, we revise the spectroscopic orbit and report on the bulk properties of the colliding winds. We find a dependence of both the light curve and excess emission properties that scales with the inverse of the binary separation. When analysing the spectroscopic properties in combination with the photometry, we find that the phase dependence is caused only by excess emission in the lines, and not from a changing continuum. We also detect a narrow, high-velocity absorption component from the He perpendicular to lambda 5876 transition, which appears twice in the orbit. We calculate smoothed-particle hydrodynamical simulations of the colliding winds and can accurately associate the absorption from He perpendicular to to the leading and trailing arms of the wind shock cone passing tangentially through our line of sight. The simulations also explain the general strength and kinematics of the emission excess observed in wind lines such as C III lambda 5696 of the system. These results represent the first in a series of investigations into the winds and properties of gamma(2) Velorum through multi-technique and multi-wavelength observational campaigns.
We present a new integral field spectroscopic dataset of the central part of the Orion Nebula (M 42), observed with the MUSE instrument at the ESO VLT. We reduced the data with the public MUSE pipeline. The output products are two FITS cubes with a spatial size of similar to 5'9 x 4'9 (corresponding to similar to 0.76 x 0.63 pc(2)) and a contiguous wavelength coverage of 4595 ... 9366 angstrom, spatially sampled at 0 ''.2. We provide two versions with a sampling of 1.25 angstrom and 0.85 angstrom in dispersion direction. Together with variance cubes these files have a size of 75 and 110 GiB on disk. They are the largest integral field mosaics to date in terms of information content. We make them available for use in the community. To validate this dataset, we compare world coordinates, reconstructed magnitudes, velocities, and absolute and relative emission line fluxes to the literature values and find excellent agreement. We derive a 2D map of extinction and present de-reddened flux maps of several individual emission lines and of diagnostic line ratios. We estimate physical properties of the Orion Nebula, using the emission line ratios [N II] and [S III] (for the electron temperature T-e) and [S II] and [Cl III] (for the electron density N-e), and show 2D images of the velocity measured from several bright emission lines.
This article presents a new and easily implementable method to quantify the so-called coupling distance between the law of a time series and the law of a differential equation driven by Markovian additive jump noise with heavy-tailed jumps, such as a-stable Levy flights. Coupling distances measure the proximity of the empirical law of the tails of the jump increments and a given power law distribution. In particular, they yield an upper bound for the distance of the respective laws on path space. We prove rates of convergence comparable to the rates of the central limit theorem which are confirmed by numerical simulations. Our method applied to a paleoclimate time series of glacial climate variability confirms its heavy tail behavior. In addition, this approach gives evidence for heavy tails in datasets of precipitable water vapor of the Western Tropical Pacific. Published by AIP Publishing.