1,517 research outputs found

    A methylome-wide mQTL analysis reveals associations of methylation sites with GAD1 and HDAC3 SNPs and a general psychiatric risk score

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    Genome-wide association studies have identified a number of single-nucleotide polymorphisms (SNPs) that are associated with psychiatric diseases. Increasing body of evidence suggests a complex connection of SNPs and the transcriptional and epigenetic regulation of gene expression, which is poorly understood. In the current study, we investigated the interplay between genetic risk variants, shifts in methylation and mRNA levels in whole blood from 223 adolescents distinguished by a risk for developing psychiatric disorders. We analyzed 37 SNPs previously associated with psychiatric diseases in relation to genome-wide DNA methylation levels using linear models, with Bonferroni correction and adjusting for cell-type composition. Associations between DNA methylation, mRNA levels and psychiatric disease risk evaluated by the Development and Well-Being Assessment (DAWBA) score were identified by robust linear models, Pearson's correlations and binary regression models. We detected five SNPs (in HCRTR1, GAD1, HADC3 and FKBP5) that were associated with eight CpG sites, validating five of these SNP-CpG pairs. Three of these CpG sites, that is, cg01089319 (GAD1), cg01089249 (GAD1) and cg24137543 (DIAPH1), manifest in significant gene expression changes and overlap with active regulatory regions in chromatin states of brain tissues. Importantly, methylation levels at cg01089319 were associated with the DAWBA score in the discovery group. These results show how distinct SNPs linked with psychiatric diseases are associated with epigenetic shifts with relevance for gene expression. Our findings give a novel insight on how genetic variants may modulate risks for the development of psychiatric diseases

    Limiter lock systems at TEXTOR: flexible tools for plasma-wall investigation

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    Limiter lock systems on the top and the bottom of the TEXTOR vessel are essential elements for experimental investigations of plasma-wall interaction in a tokamak. The lock systems are designed as user facilities that allow the insertion of wall elements (limiter) and tools for diagnostic (electrical probes, gas injection) without breaking the TEXTOR vacuum. The specially designed holder on top of the central carrier and a powerful vacuum pump system permit the exchange of components within similar to1 h. Up to ten electrical signals, four thermocouples, and a gas supply can be connected at the holder interface. Between discharges, the inserted component can be positioned radially and turned with respect to the toroidal magnetic field. Additionally, the central carrier is electrically isolated to apply bias voltages and currents up to 1 kV and 1 kA, respectively.An important feature of the lock system is the good access for optical spectroscopic observation of the inserted components in the vicinity of the edge plasma. The whole spectrum from ultraviolet to infrared is covered by spectrometers and filters combined with cameras. Toroidally and poloidally resolved measurements are obtained front the view on top of the probes while the tangential poloidal view delivers radially and toroidally resolved information.A programmable logic controller (Simatic S5) that is operated inside the TEXTOR bunker and from remote locations outside the concrete wall drives all possible features of the lock system

    Path integrals approach to resisitivity anomalies in anharmonic systems

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    Different classes of physical systems with sizeable electron-phonon coupling and lattice distortions present anomalous resistivity behaviors versus temperature. We study a molecular lattice Hamiltonian in which polaronic charge carriers interact with non linear potentials provided by local atomic fluctuations between two equilibrium sites. We study a molecular lattice Hamiltonian in which polaronic charge carriers interact with non linear potentials provided by local atomic fluctuations between two equilibrium sites. A path integral model is developed to select the class of atomic oscillations which mainly contributes to the partition function and the electrical resistivity is computed in a number of representative cases. We argue that the common origin of the observed resistivity anomalies lies in the time retarded nature of the polaronic interactions in the local structural instabilities.Comment: 4 figures, to appear in Phys.Rev.B, May 1st (2001

    Properties of the energy landscape of network models for covalent glasses

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    We investigate the energy landscape of two dimensional network models for covalent glasses by means of the lid algorithm. For three different particle densities and for a range of network sizes, we exhaustively analyse many configuration space regions enclosing deep-lying energy minima. We extract the local densities of states and of minima, and the number of states and minima accessible below a certain energy barrier, the 'lid'. These quantities show on average a close to exponential growth as a function of their respective arguments. We calculate the configurational entropy for these pockets of states and find that the excess specific heat exhibits a peak at a critical temperature associated with the exponential growth in the local density of states, a feature of the specific heat also observed in real glasses at the glass transition.Comment: RevTeX, 19 pages, 7 figure

    Dynamics of erosion and deposition in tokamaks

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    In recent years, a general qualitative understanding has been reached about the major pathways of material migration in divertor tokamaks. Main chamber wall components have been identified as the major source of material erosion. The eroded material is transported by scrape-off layer flows, in the case of the ion B x del B drift pointing towards the X-point, predominately towards the inner divertor leg, where it is deposited in the form of amorphous layers. On JET, where carbon is the main plasma-facing material, it has been found that the presence of deposited carbon rich layers determines the dynamic characteristics of further re-distribution of carbon, in particular towards remote areas. The transport from the strike point to the deposition location is mainly line-of-sight. The amount of eroded carbon depends on the surface type, with lower rates for the bare CFC and higher rates for deposited layers. The erosion rates in the inner divertor increase non-linearly with increasing ELM energies. (C) 2009 Elsevier B.V. All rights reserved

    A review of information flow diagrammatic models for product-service systems

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    A product-service system (PSS) is a combination of products and services to create value for both customers and manufacturers. Modelling a PSS based on function orientation offers a useful way to distinguish system inputs and outputs with regards to how data are consumed and information is used, i.e. information flow. This article presents a review of diagrammatic information flow tools, which are designed to describe a system through its functions. The origin, concept and applications of these tools are investigated, followed by an analysis of information flow modelling with regards to key PSS properties. A case study of selection laser melting technology implemented as PSS will then be used to show the application of information flow modelling for PSS design. A discussion based on the usefulness of the tools in modelling the key elements of PSS and possible future research directions are also presented

    GAMA: towards a physical understanding of galaxy formation

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    The Galaxy And Mass Assembly (GAMA) project is the latest in a tradition of large galaxy redshift surveys, and is now underway on the 3.9m Anglo-Australian Telescope at Siding Spring Observatory. GAMA is designed to map extragalactic structures on scales of 1kpc - 1Mpc in complete detail to a redshift of z~0.2, and to trace the distribution of luminous galaxies out to z~0.5. The principal science aim is to test the standard hierarchical structure formation paradigm of Cold Dark Matter (CDM) on scales of galaxy groups, pairs, discs, bulges and bars. We will measure (1) the Dark Matter Halo Mass Function (as inferred from galaxy group velocity dispersions); (2) baryonic processes, such as star formation and galaxy formation efficiency (as derived from Galaxy Stellar Mass Functions); and (3) the evolution of galaxy merger rates (via galaxy close pairs and galaxy asymmetries). Additionally, GAMA will form the central part of a new galaxy database, which aims to contain 275,000 galaxies with multi-wavelength coverage from coordinated observations with the latest international ground- and space-based facilities: GALEX, VST, VISTA, WISE, HERSCHEL, GMRT and ASKAP. Together, these data will provide increased depth (over 2 magnitudes), doubled spatial resolution (0.7"), and significantly extended wavelength coverage (UV through Far-IR to radio) over the main SDSS spectroscopic survey for five regions, each of around 50 deg^2. This database will permit detailed investigations of the structural, chemical, and dynamical properties of all galaxy types, across all environments, and over a 5 billion year timeline.Comment: GAMA overview which appeared in the October 2009 issue of Astronomy & Geophysics, ref: Astron.Geophys. 50 (2009) 5.1
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