gebhart/patrepeval huggingface dataset:
Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease (2021)

ABSTRACT The SorLA protein, encoded by the SORL1 gene, is a major player in Alzheimer’s disease (AD) pathophysiology. Functional and genetic studies demonstrated that SorLA deficiency results in increased production of Aβ peptides, and thus a higher risk of AD. A large number of SORL1 missense variants have been identified in AD patients, but their functional consequences remain largely undefined. Here, we identified a new pathophysiological mechanism, by which rare SORL1 missense variants identified in AD patients result in altered maturation and trafficking of the SorLA protein. An initial screening, based on the overexpression of 71 SorLA variants in HEK293 cells, revealed that 15 of them (S114R, R332W, G543E, S564G, S577P, R654W, R729W, D806N, Y934C, D1535N, D1545E, P1654L, Y1816C, W1862C, P1914S) induced a maturation and trafficking-deficient phenotype. Three of these variations (R332W, S577P, and R654W) and two maturation-competent variations (S124R and N371T) were further studied in details in CRISPR/Cas9-modified hiPSCs. When expressed at endogenous levels, the R332W, S577P, and R654W SorLA variants also showed a maturation defective profile. We further demonstrated that these variants were largely retained in the endoplasmic reticulum, resulting in a reduction in the delivery of SorLA mature protein to the plasma membrane and to the endosomal system. Importantly, expression of the R332W and R654W variants in hiPSCs was associated with a clear increase of Aβ secretion, demonstrating a loss-of-function effect of these SorLA variants regarding this ultimate readout, and a direct link with AD pathophysiology. Furthermore, structural analysis of the impact of missense variations on SorLA protein indicated that impaired cellular trafficking of SorLA protein could be due to subtle variations of the protein 3D structure resulting from changes in the interatomic interactions.
Innovative Therapeutic Approaches for Improving Patient Life Condition with a Neurological Lysosomal Disease (2012)

Innovative Therapeutic Approaches for Improving Patient Life Condition with a Neurological Lysosomal Disease
Melt Rheology (2010)

No AccessUnderstanding Polymer ProcessingOct 2010Melt RheologyTim A. OsswaldTim A. Osswaldhttps://doi.org/10.3139/9783446446038.003SectionsAboutPDF ToolsAdd to FavoritesDownload CitationTrack CitationsCopy LTI LinkPDF ShareFacebookTwitterEmailLinkedIn previous chapternext chapter FiguresReferencesRelatedDetails 2010Pages: 55-69Print ISBN: 978-3-446-42404-3eISBN: 978-3-446-44603-8 Copyright & Permissions© 2011 Carl Hanser Verlag GmbH & Co. KGPDF downloadLoading ...
Hypertext Transfer Protocol (HTTP) Digest Authentication Using GSM 2G Authentication and Key Agreement (AKA) (2014)

This document specifies a one-time password generation mechanism for
Hypertext Transfer Protocol (HTTP) Digest access authentication based
on Global System for Mobile Communications (GSM) authentication and
key generation functions A3 and A8, also known as GSM AKA or 2G AKA.
The HTTP Authentication Framework includes two authentication schemes:
Basic and Digest. Both schemes employ a shared secret based mechanism
for access authentication. The GSM AKA mechanism performs user
authentication and session key distribution in GSM and Universal
Mobile Telecommunications System (UMTS) networks. GSM AKA is a
challenge-response based mechanism that uses symmetric cryptography.
Complete Genome of Acinetobacter baumannii N4-Like Podophage Presley (2013)

Acinetobacter baumannii is an emerging multidrug-resistant nosocomial pathogen. Bacteriophages may be useful as an alternative method of treatment against this and other multidrug-resistant bacteria. Here, we present the complete genome sequence of A. baumannii phage Presley, an N4-like podophage.
Deep Learning in Ultrasound Imaging (2019)

In this article, we consider deep learning strategies in ultrasound systems, from the front end to advanced applications. Our goal is to provide the reader with a broad understanding of the possible impact of deep learning methodologies on many aspects of ultrasound imaging. In particular, we discuss methods that lie at the interface of signal acquisition and machine learning, exploiting both data structure (e.g., sparsity in some domain) and data dimensionality (big data) already at the raw radio-frequency channel stage. As some examples, we outline efficient and effective deep learning solutions for adaptive beamforming and adaptive spectral Doppler through artificial agents, learn compressive encodings for the color Doppler, and provide a framework for structured signal recovery by learning fast approximations of iterative minimization problems, with applications to clutter suppression and super-resolution ultrasound. These emerging technologies may have a considerable impact on ultrasound imaging, showing promise across key components in the receive processing chain.
Optical Lattice Clocks for Precision Frequency Metrology (2011)

In recent years, with such rapid progress in laser technology as optical frequency combs, stable laser
Light Scattering Study of Sodium Dodecyl Polyoxyethylene-2-sulfonate Micelles in the Presence of Multivalent Counterions (1995)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTLight Scattering Study of Sodium Dodecyl Polyoxyethylene-2-sulfonate Micelles in the Presence of Multivalent CounterionsR. Alargova, J. Petkov, D. Petsev, I. B. Ivanov, G. Broze, and A. MehreteabCite this: Langmuir 1995, 11, 5, 1530–1536Publication Date (Print):May 1, 1995Publication History Published online1 May 2002Published inissue 1 May 1995https://pubs.acs.org/doi/10.1021/la00005a021https://doi.org/10.1021/la00005a021research-articleACS PublicationsRequest reuse permissionsArticle Views347Altmetric-Citations66LEARN ABOUT THESE METRICSArticle Views are the COUNTER-compliant sum of full text article downloads since November 2008 (both PDF and HTML) across all institutions and individuals. These metrics are regularly updated to reflect usage leading up to the last few days.Citations are the number of other articles citing this article, calculated by Crossref and updated daily. Find more information about Crossref citation counts.The Altmetric Attention Score is a quantitative measure of the attention that a research article has received online. Clicking on the donut icon will load a page at altmetric.com with additional details about the score and the social media presence for the given article. Find more information on the Altmetric Attention Score and how the score is calculated. Share Add toView InAdd Full Text with ReferenceAdd Description ExportRISCitationCitation and abstractCitation and referencesMore Options Share onFacebookTwitterWechatLinked InRedditEmail Other access optionsGet e-Alertsclose Get e-Alerts
Dual-functional polymeric waveguide with optical amplification and electro-optic modulation (1998)

Optical amplification and first-order electro-optic effect have been observed simultaneously in one polymeric material photolime gel which has been used widely as a volume holographic material to produce dichromated gelatin films. In this letter, the dual functions were achieved by doping neodymium chloride hexahydrate and chlorophenol red. The optimized doping concentration of Nd+3 is 6.7×1019 cm−3. The weight percentage of chlorophenol red is 23%. We observed a 3.8 dB of optical gain at 1.06 μm and an electro-optic coefficient of 22 pm/V at 633 nm.
Co-Simulation of Electric Power Distribution Systems and Buildings including Ultra-Fast HVAC Models and Optimal DER Control (2023)

Smart homes and virtual power plant (VPP) controls are growing fields of research with potential for improved electric power grid operation. A novel testbed for the co-simulation of electric power distribution systems and distributed energy resources (DERs) is employed to evaluate VPP scenarios and propose an optimization procedure. DERs of specific interest include behind-the-meter (BTM) solar photovoltaic (PV) systems as well as heating, ventilation, and air-conditioning (HVAC) systems. The simulation of HVAC systems is enabled by a machine learning procedure that produces ultra-fast models for electric power and indoor temperature of associated buildings that are up to 133 times faster than typical white-box implementations. Hundreds of these models, each with different properties, are randomly populated into a modified IEEE 123-bus test system to represent a typical U.S. community. Advanced VPP controls are developed based on the Consumer Technology Association (CTA) 2045 standard to leverage HVAC systems as generalized energy storage (GES) such that BTM solar PV is better utilized locally and occurrences of distribution system power peaks are reduced, while also maintaining occupant thermal comfort. An optimization is performed to determine the best control settings for targeted peak power and total daily energy increase minimization with example peak load reductions of 25+%.
High-pressure zinc oxide phase as visible-light-active photocatalyst with narrow band gap (2017)

High-pressure rocksalt ZnO with a band gap of 1.8 eV, which can absorb visible light.
Nature et rôle d’un réseau (2018)

Les nouvelles technologies de traitement et de diffusion de l’information sont à l’origine du concept de réseau automatisé de bibliothèques. Un réseau permet de réaliser collectivement des objectifs qui dépassent les capacités individuelles de chaque participant. Il engendre une redéfinition du rôle des bibliothèques, qui deviennent des pourvoyeuses d’information. Mais les réseaux ne sont que des moyens. Ils ont plusieurs visages. Leur forme et leur efficacité sont subordonnées à la définition par les composantes de leurs besoins et de leurs objectifs.
Innovative Phase Change Approach for Significant Energy Savings (2016)

Abstract : A hybrid Environmental Control Unit (HECU) technology was demonstrated. The HECU integrated heat exchangers filled with Phase Change Material (PCM) into a facility's air conditioning system. The PCM acts as a thermal battery storing cold energy to supplement the facility's ECU operations reducing operational energy consumption, peak demand, and cost. After extensive pre-demonstration testing at ARA facilities, two methods of integrating PCM into a facility's air conditioning system emerged: 1) PCM-filled coils suspended under ceiling air registers, a simple retrofit, this method targeted continuous PCM use by ensuring the coils were always in the path of air flow. 2) Peak Load Shaving (PLS) using a large PCM-filled coil. This PLS method used PCM module with large thermal storage capacity to absorb heat and maintain room temperature during the peak demand period of the day. The air conditioner then regenerated the PCM during early morning hours, when the air conditioners ran more efficiently and the price of electricity is lower. The ceiling PCM-filled coils demonstration showed a 19% reduction in air conditioning energy use compared to the baseline. While, the PLS demonstration, using storage capacity for 1/3 of the peak period, showed 1.47% energy savings and based on Tyndall AFB electricity pricing reduced the air conditioning energy cost by 6.2% .
Life-Course Analysis of a Fat Mass and Obesity-Associated (FTO) Gene Variant and Body Mass Index in the Northern Finland Birth Cohort 1966 Using Structural Equation Modeling (2010)

The association between variation in the fat mass and obesity-associated (FTO) gene and adulthood body mass index (BMI; weight (kg)/height (m)(2)) is well-replicated. More thorough analyses utilizing phenotypic data over the life course may deepen our understanding of the development of BMI and thus help in the prevention of obesity. The authors used a structural equation modeling approach to explore the network of variables associated with BMI from the prenatal period to age 31 years (1965-1997) in 4,435 subjects from the Northern Finland Birth Cohort 1966. The use of structural equation modeling permitted the easy inclusion of variables with missing values in the analyses without separate imputation steps, as well as differentiation between direct and indirect effects. There was an association between the FTO single nucleotide polymorphism rs9939609 and BMI at age 31 years that persisted after controlling for several relevant factors during the life course. The total effect of the FTO variant on adult BMI was mostly composed of the direct effect, but a notable part was also arising indirectly via its effects on earlier BMI development. In addition to well-established genetic determinants, many life-course factors such as physical activity, in spite of not showing mediation or interaction, had a strong independent effect on BMI.
Genetic Processes Facilitating Pathogen Emergence (2022)

The goal of biosecurity is to minimize the risk of introduction and transmission of infectious diseases to people, animals, and plants. This is achieved by accurately identifying pathogens and instituting appropriate methods to prevent their introduction, reemergence, and/or spread. However, disease is dynamic, and biosecurity needs to continually change to keep pace as pathogens evolve. As described in this chapter, a basic understanding of evolution is central in considering how genetic changes and their associated phenotypes can alter the disease presentation of pathogens. In addition, evolution leaves a trail of genetic information that can be leveraged to inform biosecurity because the spatiotemporal patterns of these past changes provide clues as to how the pathogen might be spreading. This chapter aims to provide insights into how various genetic alterations occur, the background on how these are informative for biosecurity, and illustrations of applications to real-world examples. Evolution underlies the abilities of pathogens to adapt, emerge, and to cause epidemics.
<title>Visible human slice sequence animation Web server</title> (2000)

Since June 1998, EPFL's Visible Human Slice Server (http://visiblehuman.epfl.ch) allows to extract arbitrarily oriented and positioned slices. More than 300,000 slices are extracted each year. In order to give a 3D view of anatomic structures, a new service has been added for extracting slice animations along a user-defined trajectory. This service is useful both for research and teaching purposes (http:visiblehuman.epfl.ch/animation/). Extracting slices of animations at any desired position and orientation from the Visible Human volume (Visible Man or Woman) requires both high throughput and much processing power. The I/O disk bandwidth can be increased by accessing more than one disk at the same time, i.e. by stripping data across several disks and by carrying out parallel asynchronous disk accesses. Since processing operations such as slice and animation extraction are compute- intensive, they require the program execution to be carried out in parallel on several computers. In the present contribution, we describe the new slice sequence animation service as well as the approach taken for parallelizing this service on a multi-PC multi-disk Web server.
Plasma Activated Low-temperature Die-level Direct Bonding with Advanced Wafer Dicing Technologies for 3D Heterogeneous Integration (2021)

In this paper, we have demonstrated a plasma activated low-temperature die-level oxide-oxide direct bonding with advanced wafer dicing technologies. This evaluation used blanket 300-mm silicon wafers. 1 μm Tetraethyl orthosilicate (TEOS) oxide was deposited by plasma-enhanced chemical vapor deposition (PECVD) directly on the silicon (Si) wafer surface, followed by chemical mechanical planarization (CMP). Atomic Force Microscopy (AFM) was used to examine the roughness of the wafer surface before dicing and it showed <; 0.38 nm RMS and <; 0.30 nm R <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">a</sub> . Several dicing technologies such as diamond blade dicing, step-cut blade dicing, bevel blade dicing, and stealth laser dicing were evaluated for this integration scheme. In the end, diamond blade dicing has the most compatibility with many materials, but it led to large chipping on the edges of the die. Stealth laser dicing achieves edge chipping of less than 2 μm, which is the least amount of damage among of all dicing methods tested in this study. In the bonding test, the 10 mm square silicon die was bonded to a 35-mm square silicon substrate. Both silicon die and substrate are of thickness 760 μm. Prior to direct oxide-oxide bonding, both silicon die, and substrate went through a two-step cleaning process. The detailed process of the plasma activated die-level direct bonding is discussed.
Fullerene-based Schottky-junction organic solar cells: a brief review (2014)

Recent advances in fullerene-based Schottky organic solar cells (OSCs) are presented, with a focus on the current understanding of device physics. Fullerene-based Schottky OSCs attain high open-circuit voltages due to the n-type Schottky junction formed between fullerene and an adjacent high work function anode. Small concentrations of donor material doped into the fullerene matrix serve as efficient exciton dissociation and hole transport agents that can substantially bolster short-circuit currents and fill factors. As a consequence, fullerene-based Schottky OSCs have been demonstrated to provide some of the highest-performance vacuum-deposited small molecule OSCs, with power conversion efficiencies up to 8.1%. Fullerene-based Schottky OSCs constructed using different donor materials and varying cathode buffer layers, as studied by a number of different research groups, are presented. To elucidate the differences between Schottky OSCs and more traditional bulk-heterojunction OSCs, we discuss the photophysics of fullerenes, the role of the donor material, and charge transport in low donor concentration active layers. Fullerene-based Schottky OSCs possess considerable advantages because they can reach high efficiencies with a simple structure using readily available and cost-effective materials. The impact and applicability of the Schottky device architecture on the field of organic photovoltaics at large are discussed.
Spred-1 negatively regulates allergen-induced airway eosinophilia and hyperresponsiveness (2005)

T helper 2 cytokines, including interleukin (IL)-4, IL-5, and IL-13, play a critical role in allergic asthma. These cytokines transmit signals through the Janus kinase/signal transducer and activator of transcription (STAT) and the Ras-extracellular signal-regulated kinase (ERK) signaling pathways. Although the suppressor of cytokine signaling (SOCS) family proteins have been shown to regulate the STAT pathway, the mechanism regulating the ERK pathway has not been clarified. The Sprouty-related Ena/VASP homology 1-domain-containing protein (Spred)-1 has recently been identified as a negative regulator of growth factor-mediated, Ras-dependent ERK activation. Here, using Spred-1-deficient mice, we demonstrated that Spred-1 negatively regulates allergen-induced airway eosinophilia and hyperresponsiveness, without affecting helper T cell differentiation. Biochemical assays indicate that Spred-1 suppresses IL-5-dependent cell proliferation and ERK activation. These data indicate that Spred-1 negatively controls eosinophil numbers and functions by modulating IL-5 signaling in allergic asthma.
A multiphase PLL for 10 Gb/s links in SOI CMOS technology (2004)

This paper presents a multiphase PLL designed for a 10/spl times/10 Gbit/s serial link bundle that is based on a digital CDR receiver. The PLL was fabricated in a 90-nm SOI CMOS process and covers a frequency band of 9.6-12.8 GHz at a supply voltage of 1.7 V. Measurement results showed a peak-to-peak jitter of less than 0.12 UI and a power consumption efficiency of 1.5 mW/GHz per link.
Dynamic Structure of a Highly Ordered .beta.-Sheet Molten Globule: Multiple Conformations with a Stable Core (1995)

The structure of [14-38]Abu, a variant of bovine pancreatic trypsin inhibitor (BPTI) with only the 14-38 disulfide bridge intact, has been analyzed by two-dimensional 1H and 1H-15N NMR. Except for the 18-24, 29-35 antiparallel beta-sheet, residues in all regions of the molecule give two exchange cross peaks for each 1H; for one residue, Gly 37, three exchange cross peaks are observed. The presence of exchange cross peaks indicates that the residues sample conformations that interconvert on a time scale of milliseconds or longer. Over 90% of the NMR spectra have been assigned, including backbone and side chain atoms and their exchange cross peaks. Analyses of chemical shifts, chemical exchange, hydrogen isotope exchange, and NOEs indicate that [14-38]Abu at pH 4.5 and 1 degree C is an ensemble of interconverting conformations, in all of which the 18-24, 29-35 antiparallel beta-sheet is native-like and intact. Outside the antiparallel beta-sheet, residues undergo local order/disorder transitions. The stable structure of [14-38]Abu is not in the vicinity of the 14-38 disulfide bond but rather is in the slow-exchange core. NOE analysis indicates that the main tertiary interactions involve hydrophobic contacts with the rings of Tyr 21, Tyr 23, and Tyr 35. As a model for early folding intermediates, the structure of [14-38]Abu suggests that BPTI folding is initiated by stabilization of a turn existing in the unfolded protein and involves both local and nonlocal hydrophobic interactions.
Large-area ultrathin Te films with substrate-tunable orientation (2020)

Anisotropy in a crystal structure can lead to large orientation-dependent variations of mechanical, optical, and electronic properties. Material orientation control can thus provide a handle to manipulate properties. Here, a novel sputtering approach for 2D materials enables growth of ultrathin (2.5-10 nm) tellurium films with rational control of the crystalline orientation templated by the substrate. The anisotropic Te 〈0001〉 helical chains align in the plane of the substrate on highly oriented pyrolytic graphite (HOPG) and orthogonally to MgO(100) substrates, as shown by polarized Raman spectroscopy and high-resolution electron microscopy. Furthermore, the films are shown to grow in a textured fashion on HOPG, in contrast with previous reports. These ultrathin Te films cover exceptionally large areas (>1 cm<sup>2</sup>) and are grown at low temperature (25 °C) affording the ability to accommodate a variety of substrates including flexible electronics. They are robust toward oxidation over a period of days and exhibit the non-centrosymmetric P3<sub>1</sub>21 Te structure. Raman signals are acutely dependent on film thickness, suggesting that optical anisotropy persists and is even enhanced at the ultrathin limit. Hall effect measurements indicate orientation-dependent carrier mobility up to 19 cm<sup>2</sup> V<sup>-1</sup> s<sup>-1</sup>. These large-area, ultrathin Te films grown by a truly scalable, physical vapor deposition technique with rational control of orientation/thickness open avenues for controlled orientation-dependent properties in semiconducting thin films for applications in electronic and optoelectronic devices.