gebhart/patrepeval huggingface dataset:
Identification of pathogenic variant enriched regions across genes and gene families (2019)

Missense variant interpretation is challenging. Essential regions for protein function are conserved among gene-family members, and genetic variants within these regions are potentially more likely to confer risk to disease. Here, we generated 2871 gene-family protein sequence alignments involving 9990 genes and performed missense variant burden analyses to identify novel essential protein regions. We mapped 2,219,811 variants from the general population into these alignments and compared their distribution with 76,153 missense variants from patients. With this gene-family approach, we identified 465 regions enriched for patient variants spanning 41,463 amino acids in 1252 genes. As a comparison, by testing the same genes individually, we identified fewer patient variant enriched regions, involving only 2639 amino acids and 215 genes. Next, we selected de novo variants from 6753 patients with neurodevelopmental disorders and 1911 unaffected siblings and observed an 8.33-fold enrichment of patient variants in our identified regions (95% C.I. = 3.90-Inf, <i>P</i>-value = 2.72 × 10<sup>-11</sup>). By using the complete ClinVar variant set, we found that missense variants inside the identified regions are 106-fold more likely to be classified as pathogenic in comparison to benign classification (OR = 106.15, 95% C.I = 70.66-Inf, <i>P</i>-value < 2.2 × 10<sup>-16</sup>). All pathogenic variant enriched regions (PERs) identified are available online through "<i>PER viewer</i>," a user-friendly online platform for interactive data mining, visualization, and download. In summary, our gene-family burden analysis approach identified novel PERs in protein sequences. This annotation can empower variant interpretation.
Multifunctional antiperovskites driven by strong magnetostructural coupling (2021)

Abstract Based on density functional theory calculations, we elucidated the origin of multifunctional properties for cubic antiperovskites with noncollinear magnetic ground states, which can be attributed to strong isotropic and anisotropic magnetostructural coupling. Of 54 stable magnetic antiperovskites M 3 XZ (M = Cr, Mn, Fe, Co, and Ni; X = selected elements from Li to Bi except for noble gases and 4f rare-earth metals; and Z = C and N), 14 are found to exhibit the Γ 4 g /Γ 5 g (i.e., characterized by irreducible representations) antiferromagnetic magnetic configurations driven by frustrated exchange coupling and strong magnetocrystalline anisotropy. Using the magnetic deformation as an effective proxy, the isotropic magnetostructural coupling is characterized, and it is observed that the paramagnetic state is critical to understand the experimentally observed negative thermal expansion and to predict the magnetocaloric performance. Moreover, the piezomagnetic and piezospintronic effects induced by biaxial strain are investigated. It is revealed that there is not a strong correlation between the induced magnetization and anomalous Hall conductivities by the imposed strain. Interestingly, the anomalous Hall/Nernst conductivities can be significantly tailored by the applied strain due to the fine-tuning of the Weyl points energies, leading to promising spintronic applications.
2,4‐5‐Trisubstituted Thiazole Building Blocks by a Novel Multi‐Component Reaction. (2005)

Abstract For Abstract see ChemInform Abstract in Full Text.
Rotationszerstäuber für große Tropfen mit enger Größenverteilung zur Anwendung in kleinen Sprühtrocknern (2015)

Abstract Es wird ein miniaturisierter, laminar betriebener Rotationszerstäuber vorgestellt, der es erlaubt, mittlere Tropfengrößen im Bereich von 70 – 200 µm mit sehr engen Größenverteilungen, herzustellen. Aufgrund der neuartigen, besonders kompakten Gestaltung des Zerstäubers ist die Tropfengeschwindigkeit vergleichsweise gering und das Spray kann bereits mit recht geringem Gasstrom abgelenkt werden. Die Technologie kann in kleinen Sprühtrocknern ( $ \emptyset $ 0,8 m) zur Herstellung von Mustermengen im Maßstab einiger kg h −1 und zur Durchführung von Machbarkeitsversuchen für die Verfahrensskalierung eingesetzt werden. Die Partikelgrößen sind dann mit denen aus vielfach größeren Produktionssprühtrocknern vergleichbar.
Stretchable ionics for transparent sensors and actuators (2023)

A class of devices enabled by ionic conductors is highly stretchable, fully transparent to light of all colors, biocompatible or biodegradable, and capable of operation at frequencies beyond 10 kilohertz and voltages above 10 kilovolts. These devices enabled by ionic conductors can be used as large strain actuators, full-range loudspeakers, as strain or pressure sensors and as stretchable interconnects. The electromechanical transduction is achieved without electrochemical reaction. When large stretchability and high optical transmittance are required, the ionic conductors have lower sheet resistance than all existing electronic conductors.
Residual Hearing Conservation and Electroacoustic Stimulation with the Nucleus 24 Contour Advance Cochlear Implant (2006)

Hearing was conserved for conventional candidates for cochlear implantation where the recommended soft-surgery protocol was strictly adhered. Combined ipsilateral electrical and acoustic stimulation provided considerable benefits for speech recognition in noise, equivalent to between 3 and 5 dB SNR, compared with CI alone.
Issues on Clinical Applications of Cancer Vaccines (2001)

Tumor Vaccine Group, University of Washington, Seattle, Washington, U.S.A. Address correspondence to Mary L. Disis, Department of Oncology, University of Washington, Box 356527, Seattle, WA 98195-6527, USA.
Action Recognition from Experience (2012)

A reinforcement learning model, which allows for an agent to interact with a simulated 3D learning environment under the initial guidance of an all knowing oracle is proposed. Methods are presented that allow the agent to learn how to perform a set of task oriented actions. It is then hypothesized that the ability to recognize an action may in fact be a byproduct of learning how to perform an action. Evidence supporting this conjecture is presented using both simulated and real world imagery.
A Comparison of Relative Weight and Nutritional Status among Four Fish Species in Two Impoundments (2008)

ABSTRACT Relative weight (Wr ) was originally developed to assess the physiological status of largemouth bass. Later it was expanded to other centrarchids and, more recently, to non-centrarchids without consideration of how well the concept may fit other taxa. Our goal was to compare the ability of Wr , to convey physiological information among species. We considered the following alternative hypotheses: that the relationship of Wr , to physiological status would vary according to phylogeny, according to ecological specialization, or according to morphology. We collected data (water, protein, lipid, liver, gonad and viscera percentages) from 216 fish of four species (bluegill, largemouth bass, black crappie, chain pickerel) from two Virginia impoundments. All but one population-specific multiple regression model explained a significant amount of variation (F > 2.31, P < 0.05). Both bluegill models explained the least amount of variation (adjusted R 2 < 0.15). Piscivore models fit the data best (adjusted R 2 > 0.45). Correlations of lipid to Wr were lowest for bluegills (r 2 = 0.11 and 0.15). Variables describing energy storage and short-term growth were positively related to Wr in all species; however, the strength of this correlation coincided with trophic role. We concluded that differences in physiology and life history affect interpretation of Wr (and other whole-body condition indices) among species. Further, Wr , may convey less physiological information for ecologically plastic species (e.g., bluegill) if they are treated as a homogeneous population.
Rapid Single-Shot Synthesis of the 214 Amino Acid-Long N-Terminal Domain of Pyocin S2 (2023)

The impermeable outer membrane of <i>Pseudomonas aeruginosa</i> is bypassed by antibacterial proteins known as S-type pyocins. Because of their properties, pyocins are investigated as a potential new class of antimicrobials against <i>Pseudomonas</i> infections. Their production and modification, however, remain challenging. To address this limitation, we employed automated fast-flow peptide synthesis for the rapid production of a pyocin S2 import domain. The N-terminal domain sequence (PyS2<sup>NTD</sup>) was synthesized in under 10 h and purified to yield milligram quantities of the desired product. To our knowledge, the 214 amino acid sequence of PyS2<sup>NTD</sup> is among the longest peptides produced from a "single-shot" synthesis, i.e., made in a single stepwise route without the use of ligation techniques. Biophysical characterization of the PyS2<sup>NTD</sup> with circular dichroism was consistent with the literature reports. Fluorescently labeled PyS2<sup>NTD</sup> binds to <i>P. aeruginosa</i> expressing the cognate ferripyoverdine receptor and is taken up into the periplasm. This selective uptake was validated with confocal and super resolution microscopy, flow cytometry, and fluorescence recovery after photobleaching. These modified, synthetic S-type pyocin domains can be used to probe import mechanisms of <i>P. aeruginosa</i> and leveraged to develop selective antimicrobial agents that bypass the outer membrane.
Critical reception (2012)

Orwell’s reputation as a writer in literary London began modestly. The period 1928–32 represents the writer’s five years of struggle as “Eric Blair.” Eager to find journalistic and reviewing assignments on his return from Burma in December 1927, he soon became a regular contributor to newspapers and magazines such as the New English Weekly and Adelphi. Scraps of biographical evidence and letters referring to lost stories with titles such as “The Sea God” and “The Man with Kid Gloves” suggest that Orwell was writing descriptive fiction (somewhat along the lines of what would later become Burmese Days). He wrote two novels during this time, both of which so displeased him that he destroyed them. These years witnessed only one effort of more than biographical interest, the superb, apparently autobiographical essay, “A Hanging” (1931). Yet for Etonian Orwell this was nonetheless a time of decisive déclassé experience, much of which he recast in later publications (e.g., his hop-picking and school teaching in A Clergyman’s Daughter, and his two weeks in a Paris hospital in “How the Poor Die”).
Sensitivity analysis of an LQ optimal multivariable controller for a fine coal injection vessel (2003)

This paper deals with a sensitivity analysis of an LQ optimal multivariable controller for a fine coal injection vessel used in the blast furnace process. The multivariable controller from a previous work is briefly presented and the closed loop system is studied by means of a sensitivity analysis. Effects of disturbances and uncertainty on the closed loop system are studied based on analysis of the singular values of the sensitivity and the complementary sensitivity functions, the relative gain array and the minimized condition numbers. Finally, the sensitivity analysis is validated by the use of logged data from test operation at the coal injection plant at SSAB Tunnplat Lulea, Sweden.
Exploring the analytical boundaries of capacitive feedback transimpedance amplifiers (2021)

This paper proposes a comprehensive model of capacitive feedback transimpedance amplifiers, based on an analysis of the parasitics and non-idealities of the system. The proposed model is in good agreement with circuit simulations (less than 2% error on the gain and 18% on the bandwidth for large set of parameters), and allows to compute the analytical boundaries of the capacitive topology. Finally, a comparative assessment between capacitive and resistive topologies in terms of performance is proposed and highlights the salient performances of capacitive feedback transimpedance amplifiers.
Single Subcutaneous Doses of a Luteinizing Hormone-Releasing Hormone Antagonist Suppress Serum Gonadotropin and Testosterone Levels in Normal Men* (1986)

The ability of single doses of a LHRH antagonist [Ac-delta 3Pro1, 4F-D-Phe2, D-Trp3,6]LHRH (4F-antagonist) to suppress serum gonadotropin and testosterone levels was studied in six normal men. The 4F-antagonist was given sc at four doses: 40, 80, 160, and 320 micrograms/kg body weight. Serum immunoreactive LH, FSH, and testosterone and bioactive LH were measured at intervals for the subsequent 18 h. Serum LH decreased rapidly by (mean +/- SE) 39.7 +/- 2.7%, 41.6 +/- 5.4%, 45.5 +/- 4.7%, and 45.3 +/- 5.4% after each of the four doses. The mean number of LH pulses and their amplitude decreased after each dose and remained suppressed for at least 6 h. After each of the four doses, mean serum FSH levels decreased by 20.0 +/- 4.1%, 33.8 +/- 6.8%, 25.8 +/- 3.6%, and 33.3 +/- 5.7%, and mean serum testosterone levels decreased by 47.7 +/- 7.3%, 55.6 +/- 10.5%, 58.2 +/- 10.8%, and 76.0 +/- 6.0%. Serum testosterone remained low for at least 18 h after the two higher doses. LH bioactivity and the ratio of bioactive LH to immunoreactive LH decreased in all subjects, especially after higher doses of the 4F-antagonist. No side effects or adverse reactions occurred after 4F-antagonist administration, and toxicology studies were negative. These results demonstrate that a single sc injection of this potent LHRH antagonist inhibits the pituitary-gonadal axis in normal men.
Enzymatic cross‐linking to improve the handling properties of dough prepared within a normal and reduced NaCl environment (2020)

This research examines the use of three enzymes [glucose oxidase (GOX), hexose oxidase (HOX), and xylanase (XYL)] and their combinations [GOX-XYL and HOX-XYL] on the dough handling properties of CDC Plentiful and Stettler wheat cultivars prepared at reduced (1.0% wt. by flour) and normal (2.0% wt. by flour) NaCl levels. Properties investigated include dough rheology, stickiness, and ratio of resistance to extension and extensibility. The inclusion of XYL and its combinations with GOX and HOX increased the stickiness, yielded lower dough strength indicated by rheology, and reduced the ratio of resistance to extension and extensibility. The inclusion of oxidative enzymes yielded a stronger dough, where HOX addition to dough had the lowest stickiness values and highest |G*| values, whereas GOX addition led to the highest ratio of resistance to extension-extensibility. NaCl only had minor effects overall on dough strength and stickiness for the cultivars studied. Overall, superior dough handling properties were observed with oxidative enzyme addition (GOX and HOX) suggesting that the increased crosslinking that occurs could aid in improving low sodium bread dough properties.
Gas cushion control of OVJP print head position (2023)

An OVJP apparatus and method for applying organic vapor or other flowable material to a substrate using a printing head mechanism in which the print head spacing from the substrate is controllable using a cushion of air or other gas applied between the print head and substrate. The print head is mounted for translational movement towards and away from the substrate and is biased toward the substrate by springs or other means. A gas cushion feed assembly supplies a gas under pressure between the print head and substrate which opposes the biasing of the print head toward the substrate so as to form a space between the print head and substrate. By controlling the pressure of gas supplied, the print head separation from the substrate can be precisely controlled.
Effect of sialodacryoadenitis virus exposure on acinar epithelial cells from the rat lacrimal gland (1997)

Sialodacryoadenitis virus (SDAV), a RNA coronavirus, induces degenerative, necrotic and atrophic alterations in acinar epithelial cells of the rat lacrimal gland. To begin to explore the underlying mechanism(s) of this viral effect, we sought in the present study to: (1) determine whether SDAV invades and replicates in lacrimal gland acinar cells in vitro and (2) assess whether short-term SDAV challenge interferes with the viability or function of acinar cells in vitro. For comparison we also evaluated the relative infectivity of SDAV in acinar epithelial cells from lacrimal, submandibular and parotid glands, given that salivary tissues are known to be highly susceptible to SDAV infection in vivo. Acinar epithelial cells from lacrimal, submandibular or parotid glands were isolated from male rats, exposed briefly to SDAV or control cell antigen and then cultured for four, eight or twelve days. At experimental termination, SDAV titers in both media and sonicated cell extracts were evaluated by plaque assay titration on mouse L2 cell monolayers. To evaluate functional aspects of lacrimal gland acinar cells, SDAV-infected cells were incubated in the presence or absence of dihydrotestosterone and culture media were analyzed by RIA to measure the extent of the androgen-induced increase in secretory component (SC) production. Our results showed that: (1) SDAV invades and replicates in lacrimal gland acinar cells, Viral challenge resulted in a significant, time-dependent increase in SDAV titers, that were primarily cell-associated and greatly exceeded amounts contained in the original inoculum; (2) SDAV infection did not compromise lacrimal acinar cell viability or prevent the cellular SC response to androgens. Viral presence, though, did often attenuate the magnitude of this hormone action; and (3) SDAV infects salivary acinar cells, but the kinetics and magnitude or viral replication in lacrimal, submandibular and parotid cells showed considerable variations. These findings demonstrate that SDAV invades and replicates in acinar epithelial cells from lacrimal and salivary glands. The resulting release of infectious progeny may play a role in the SDAV-induced pathology of exocrine tissues in vivo.
The suppressive effect of dietary coenzyme Q10 on mitochondrial reactive oxygen species production and oxidative stress in chickens exposed to heat stress (2015)

This study was conducted to determine if dietary supplementation with coenzyme Q<sub>10</sub> (CoQ<sub>10</sub> ), which can act as a potent antioxidant and is an obligatory cofactor of mitochondrial uncoupling protein, suppresses the heat stress (HS)-induced overproduction of mitochondrial reactive oxygen species (ROS) and oxidative damage in the skeletal muscle of birds. The carbonyl protein content of skeletal muscle was significantly higher in birds exposed to HS treatment (34°C, 12 h) than in thermoneutral birds (25°C). This increase was suppressed by CoQ<sub>10</sub> supplementation (40 mg/kg diet). Succinate-supported mitochondrial ROS production was increased by HS treatment, and this increase was also suppressed by CoQ<sub>10</sub> supplementation. In contrast, CoQ<sub>10</sub> supplementation did not affect the HS-induced decrease in mitochondrial proton leak. The mitochondrial membrane potential (ΔΨ), to which HS-induced ROS production was previously shown to be sensitive, tended to be increased by HS treatment, but this rise in ΔΨ was not affected by CoQ<sub>10</sub> supplementation. Taken together, these results suggest that dietary CoQ<sub>10</sub> supplementation attenuates HS-induced oxidative damage to skeletal muscle, by preventing the overproduction of succinate-supported mitochondrial ROS in a manner that is independent of ΔΨ. © 2015 Japanese Society of Animal Science.
Zerstäuben von Flüssigkeiten (1990)

Abstract Atomizing of liquids. Atomizing of liquids, i.e. the formation of droplets in a continuous gas phase or in vacuum, is accomplished in most cases by atomizer nozzles. Single substance pressure nozzles and pneumatic atomizers or air blast atomizers are alternative devices for that purpose. The physical facts of the partition process of the liquid and two phase flow conditions are now better known thanks to recent investigations. This permits estimation of the effect of the most important parameters on the median drop size by equations of physically based dimensionless groups. The different methods referred to in the literature for determining drop sizes lead to different results and therefore still represent a problem. Nevertheless, an attempt is made to give simplified and physically sound equations for estimating droplet size for the most important kinds of atomizers. They provide the user with an overview of the principal influencing factors and should facilitate choice of a suitable atomizer. Besides the frequently applied methods for drop and spray formation, other processes are also described which are used in special cases.
High Temperature Surface Oxidation of Metallic Fibres for Hot Gas Filtration (2002)

Metal hot gas filters made of Fe-Cr-Al alloy fibre media have been developed to meet the increasingly stringent requirement for hot gas filtration. High temperature oxidation behaviour of Fe-Cr-Al alloy fibre media consisting of a random non-woven feltlike structure was studied at a temperature of 1255 K in dry air. Two types of Fe-Cr-Al alloys, namely Hoskins 875 and Fe-Cr-Al-Mo were used in the present study. The oxidation kinetics was found to follow the parabolic law for thick fibres (25 μm). The scale morphology and chemical composition were studied by SEM/EDAX. Focused ion beam (FIB) was used to investigate the scale cross-section. X-ray photoelectron spectroscopy (XPS) and Auger electron spectroscopy (AES) studies confirmed that alumina scale forms on the surface of the Fe-Cr-Al alloy fibre media. Both fibres, 12 μm in diameter, showed short lifetimes at 1255 K. Fe-Cr-Al-Mo was found to have more oxidation resistance than Hoskins 875 at 1255 K.
Quality of service in business-to-business e-commerce applications (2003)

Electronic commerce has attracted a great deal of attention recently. Among the different types of electronic commerce, business-to-business is the one most widespread in terms of turnover. An important aspect in business-to-business e-commerce scenarios is how to meet the response time and throughput requirements of applications in spite of execution taking place across corporate boundaries and, in the future, via the Internet instead of using leased lines. Given the unpredictable variations of available bandwidth in today's Internet, providing application quality-of-service guarantees for these requirements is a complex task. Due to the current trend to run multimedia applications over the Internet, we assume that the future Internet will not only support best-effort service but also guaranteed service, e.g. via network resource reservation. This allows us to also take advantage of this service for e-commerce applications. The problem remains non-trivial due to the wide variations among application scenarios. As a first step towards implementing a generic solution, this paper proposes a scheme which enables virtual business processes to meet response time and throughput requirements through network resource reservation. The paper describes the application scenarios we have in mind, the WISE (Workflow-based Internet SErvices) system where these ideas are being implemented, and the mechanisms involved in providing quality-of-service guarantees at the application level.