964 resultados para SUBGENOTYPE D3
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"November 1969."
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Thesis (Master's)--University of Washington, 2016-06
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Evidence for the presence of the vitamin D receptor in brain implies this vitamin may have some function in this organ. This study investigates whether vitamin D-3 acts during brain development. We demonstrate that rats born to vitamin D-3-deficient mothers had profound alterations in the brain at birth. The cortex was longer but not wider, the lateral ventricles were enlarged, the cortex was proportionally thinner and there was more cell proliferation throughout the brain. There were reductions in brain content of nerve growth factor and glial cell line-derived neurotrophic factor and reduced expression of p75(NTR), the low-affinity neurotrophin receptor. Our findings would suggest that low maternal vitamin D3 has important ramifications for the developing brain. (C) 2003 IBRO. Published by Elsevier Science Ltd. All rights reserved.
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This document presents the first release of the project’s storytelling framework, which is composed by two assets. The purpose of this framework is to facilitate the use of interactive storytelling for the development of applied games. More precisely, the framework is meant to aid developers in the creation of game scenarios where both players and autonomous characters are playing an active role in a narrative that unfolds according to their actions. The document describes the current state for the assets that are part of this framework, also providing links to the source code of the assets as well as associated demonstrations and documentation. The primary audience for the contents of this deliverable are the game developers that will use the proposed framework in their development process. The information about the specific RAGE use cases that are using the framework is written in Deliverable 4.2.
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This deliverable is software, as such this document is abridged to be as succinct as possible, the extended descriptions and detailed documentation for the software are online. The document consists of two parts, part one describes the first bundle of social gamification assets developed in WP3, part two presents mock-ups of the RAGE ecosystem gamification. In addition to the software outline, included in part one is a short market analysis of existing gamification solutions, outline rationale for combining the three social gamification assets into one unified asset, and the branding exercise to make the assets more developer friendly.Online links to the source code, binaries, demo and documentation for the assets are provided. The combined assets offer game developers as well as a wide range of software developers the opportunity to readily enhance existing games or digital platforms with multiplayer gamification functionalities, catering for both competitive and cooperative game dynamics. The solution consist of a flexible client-server solution which can run either as a cloud-based service, serving many games or have specific instances for individual games as necessary.
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This deliverable presents and describes the first delivery of assets that are part of the core social agency bundle. In total, the bundle includes 16 assets, divided into 4 main categories. Each category is related to a type of challenge that developers of applied games are typically faced with and the aim of the included assets is to provide solutions to those challenges. The main goal of this document is to provide the reader with a description for each included asset, accompanied by links to their source code, distributable versions, demonstrations and documentation. A short discussion of what are the future steps for each asset is also given. The primary audience for the contents of this deliverable are the game developers, both inside and outside of the project, which can use this document as an official list of the current social agency assets and their associated resources. Note that the information about which RAGE use cases are using which of these assets is described in Deliverable 4.2.
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Genome-wide association studies (GWAS) have identified several risk variants for late-onset Alzheimer's disease (LOAD)1, 2. These common variants have replicable but small effects on LOAD risk and generally do not have obvious functional effects. Low-frequency coding variants, not detected by GWAS, are predicted to include functional variants with larger effects on risk. To identify low-frequency coding variants with large effects on LOAD risk, we carried out whole-exome sequencing (WES) in 14 large LOAD families and follow-up analyses of the candidate variants in several large LOAD case–control data sets. A rare variant in PLD3 (phospholipase D3; Val232Met) segregated with disease status in two independent families and doubled risk for Alzheimer’s disease in seven independent case–control series with a total of more than 11,000 cases and controls of European descent. Gene-based burden analyses in 4,387 cases and controls of European descent and 302 African American cases and controls, with complete sequence data for PLD3, reveal that several variants in this gene increase risk for Alzheimer’s disease in both populations. PLD3 is highly expressed in brain regions that are vulnerable to Alzheimer’s disease pathology, including hippocampus and cortex, and is expressed at significantly lower levels in neurons from Alzheimer’s disease brains compared to control brains. Overexpression of PLD3 leads to a significant decrease in intracellular amyloid-β precursor protein (APP) and extracellular Aβ42 and Aβ40 (the 42- and 40-residue isoforms of the amyloid-β peptide), and knockdown of PLD3 leads to a significant increase in extracellular Aβ42 and Aβ40. Together, our genetic and functional data indicate that carriers of PLD3 coding variants have a twofold increased risk for LOAD and that PLD3 influences APP processing. This study provides an example of how densely affected families may help to identify rare variants with large effects on risk for disease or other complex traits.
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Comunicação científica a convite