gebhart/patrepeval huggingface dataset:
Novel truncating mutations in <i>PKP1</i> and <i>DSP</i> cause similar skin phenotypes in two Brazilian families (2009)

Inherited mutations in components of desmosomes result in a spectrum of syndromes characterized by variable abnormalities in the skin and its appendages, including blisters and erosions, palmoplantar hyperkeratosis, woolly hair or hypotrichosis and, in some cases, extracutaneous features such as cardiomyopathy. We investigated the molecular basis of two Brazilian patients presenting with clinical features consistent with ectodermal dysplasia-skin fragility syndrome. In patient 1 we identified a homozygous nonsense mutation, p.R672X, in the PKP1 gene (encoding plakophilin 1). This particular mutation has not been reported previously but is similar to the molecular pathology underlying other cases of this syndrome. In patient 2 we found compound heterozygosity for two frameshift mutations, c.2516del4 and c.3971del4, in the DSP gene (encoding desmoplakin). Although there was considerable clinical overlap in the skin and hair abnormalities in these two cases, patient 2 also had early-onset cardiomyopathy. The mutation c.3971del4 occurs in the longer desmoplakin-I isoform (which is the major cardiac transcript) but not in the more ubiquitous desmoplakin-II. In contrast, PKP1 is not expressed in the heart, which accounts for the lack of cardiomyopathy in patient 1. Collectively, these cases represent the first desmosomal genodermatoses to be reported from Brazil and add to genotype-phenotype correlation in this group of inherited disorders. Loss-of-function mutations in the DSP gene can result in a phenotype similar to ectodermal dysplasia-skin fragility syndrome resulting from PKP1 mutations but only DSP pathology is associated with cardiac disease.
Research dissemination in Australia: an overview (2000)

Dissemination and uptake of research is one of the most important challenges facing health care in Australia at present. The last few years have seen a growing recognition of many of the failures of the past; there is widespread acknowledgement that the research community and health care decision makers haven't communicated well, and that much research effort has been wasted as a result. Yet at the same time, our awareness of strategies for breaking down this traditional research/decision-making divide is growing, along with a whole new body of research to inform this process. As we enter a new, information- rich decade, we need to constantly remind ourselves of the importance of not only maintaining high quality research in our chosen field, but drawing upon the best evidence to ensure our results make a difference in the health care decision making arena. (author abstract)
High-level secretion of a Rhizoupus niveus aspartic proteinase in Saccharomyces cerevisiae. (1990)

The gene encoding an extracellular Rhizopus niveus aspartic proteinase I (RNAP-I) was introduced into Saccharomyces cerevisiae. The yeast Cell carrying a plasmid containing the intact RNAP-I gene under the control of the glyceraldehyde 3-phosphate dehydrogenase (GAPDH) gene promoter of S. cerevisiae did not synthesize RNAP-I at all. On the other hand, when the intron of the RNAP-I gene had been removed from the gene in the plasmid, the cell secreted RNAP-I with high efficiency. Processing of the pro-sequence occurred at the same region of the pro-enzyme during cultivation as observed in the culture of R. niveus. Moreover, the promoter and the terminator of the original RNAP-I gene were found to be weakly functional in the yeast cell with respect to expression of the intronless RNAP-I gene, although the initiation and termination sites were heterogeneous. The effects of vector-types on the extracellular production of RNAP-I were also investigated.
Novel classes of antibiotics or more of the same? (2011)

The world is running out of antibiotics. Between 1940 and 1962, more than 20 new classes of antibiotics were marketed. Since then, only two new classes have reached the market. Analogue development kept pace with the emergence of resistant bacteria until 10-20 years ago. Now, not enough analogues are reaching the market to stem the tide of antibiotic resistance, particularly among gram-negative bacteria. This review examines the existing systemic antibiotic pipeline in the public domain, and reveals that 27 compounds are in clinical development, of which two are new classes, both of which are in Phase I clinical trials. In view of the high attrition rate of drugs in early clinical development, particularly new classes and the current regulatory hurdles, it does not seem likely that new classes will be marketed soon. This paper suggests that, if the world is to return to a situation in which there are enough antibiotics to cope with the inevitable ongoing emergence of bacterial resistance, we need to recreate the prolific antibiotic discovery period between 1940 and 1962, which produced 20 classes that served the world well for 60 years. If another 20 classes and their analogues, particularly targeting gram-negatives could be produced soon, they might last us for the next 60 years. How can this be achieved? Only a huge effort by governments in the form of finance, legislation and providing industry with real incentives will reverse this. Industry needs to re-enter the market on a much larger scale, and academia should rebuild its antibiotic discovery infrastructure to support this effort. The alternative is Medicine without effective antibiotics.
Wheat Moisture Measurement with a Fringing Field Capacitive Sensor (2009)

Grain storage managers could improve the quality of stored grain if they could directly monitor stored grain moisture content, which is a key indicator of stored grain quality and an early indicator of deterioration. However, shortcomings of currently available sensors have prevented them from achieving widespread acceptance in the industry. A new fringing field capacitive (FFC) sensor was tested to determine its suitability and accuracy for moisture content measurements in grain. Sensors were calibrated at temperature from 10C to 30C using six samples of hard red winter (HRW) wheat from three locations and two crop years. The polynomial calibration models had standard error of prediction (SEP) values that averaged 0.68% wet basis (w.b.) moisture content for data not corrected for bulk density. The average SEP improved to 0.50% w.b. when the readings were corrected based on sample bulk density, yielding a 95% confidence interval of 1.0% w.b. for these data. The measured sensor accuracy, close to that of laboratory instruments, is appropriate for an in situ instrument for monitoring stored grain and for rapid determination of grain moisture content in bulk containers.
Embedded virtualization for the design of secure IoT applications (2016)

Embedded virtualization has emerged as a valuable way to reduce costs, improve software quality, and decrease design time. Additionally, virtualization can enforce the overall system's security from several perspectives. One is security due to separation, where the hypervisor ensures that one domain does not compromise the execution of other domains. At the same time, the advances in the development of IoT applications opened discussions about the security flaws that were introduced by IoT devices. In a few years, billions of these devices will be connected to the cloud exchanging information. This is an opportunity for hackers to exploit their vulnerabilities, endangering applications connected to such devices. At this point, it is inevitable to consider virtualization as a possible approach for IoT security. In this paper we discuss how embedded virtualization could take place on IoT devices as a sound solution for security.
Notification of Reservation Record simultaneous changes (2011)

Flavoproteins of the quiescin/sulfhydryl oxidase (QSOX) family catalyze oxidation of peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. QSOX family members contain several domains, including an N-terminal thioredoxin domain (Trx) and an FAD-binding-domain (ERV) toward the C-terminus. Partial proteolysis of avian QSOX leads to two fragments, designated 30 and 60 kDa from their apparent mobilities on SDS-PAGE. The 30 kDa fragment is a monomer under nondenaturing conditions and contains a Trx domain with a CxxC sequence typical of protein disulfide isomerase (WCGHC). This QSOX fragment is not detectably glycosylated, contains no detectable FAD, and shows undetectable sulfhydryl oxidase activity. In contrast, the 60 kDa fragment is a dimeric glycoprotein that binds FAD tightly and oxidizes dithiothreitol about 1000-fold slower than intact QSOX. Reduced RNase is not a significant substrate of the 60 kDa fragment. The redox behavior of the 60 kDa flavoprotein fragment is profoundly different from that of intact QSOX. Thus, dithionite or photochemical reduction of the 60 kDa fragment leads to two-electron reduction of the FAD without subsequent reduction of the other two CxxC motifs or the appearance of a thiolate to flavin charge-transfer complex. Further characterization of the fragments and insights gained from the crystal structure of yeast ERV2p (Gross, E., Sevier, C. S., Vala, A., Kaiser, C. A., and Fass, D. (2002) Nat. Struct. Biol. 9, 61-67) suggest that the flow of reducing equivalents in intact avian QSOX is dithiol substrate --> C80/83 --> C519/522 --> C459/462 --> FAD --> oxygen. The ancient fusion of thioredoxin domains to a catalytically more limited ERV domain has produced an efficient catalyst for the direct introduction of disulfide bonds into a wide range of proteins and peptides in multicellular organisms.
Slit2–Robo signaling (2013)

Recent advances in our understanding of Slit2-Robo signaling have provided novel insights into the pathophysiology of vascular injury that is commonly associated with renal disease. These insights have created potential opportunities for the development of new therapies targeting vascular injury associated with renal disease.
Copper Chromite-catalyzed Conversion of Some Glycols to Dioxenes (1962)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTCopper Chromite-catalyzed Conversion of Some Glycols to DioxenesR. K. Summerbell, Donald M. Jerina, and Robert J. GrulaCite this: J. Org. Chem. 1962, 27, 12, 4433–4436Publication Date (Print):December 1, 1962Publication History Published online1 May 2002Published inissue 1 December 1962https://pubs.acs.org/doi/10.1021/jo01059a075https://doi.org/10.1021/jo01059a075research-articleACS PublicationsRequest reuse permissionsArticle Views262Altmetric-Citations10LEARN 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
Na+/H+ exchange modulates rat neutrophil mediated tumor cytotoxicity. (1991)

Rat neutrophils stimulated with phorbol 12-myristate 13-acetate, Bacillus Calmette-Guérin, zymosan A, and beta-1,3-D-glucan from Alcaligenes faecalis showed cytotoxicity to various tumor cells. Hydrogen peroxide was shown to be an effector molecule in tumor cytotoxicity by inhibition using various active oxygen scavengers. The following findings suggest that tumor cytotoxicity by rat neutrophils stimulated with the four reagents mentioned above is regulated by Na+/H+ exchange: (a) an increase in extracellular pH (pHo) from 6.5 to 8.0 resulted in enhancement of both tumor cytotoxicity and H2O2 production; (b) amiloride and its derivatives, inhibitors of Na+/H+ exchange, inhibited both functions of neutrophils mentioned above; (c) amiloride reduced intracellular pH (pHi) of neutrophils stimulated with the four reagents; (d) a decrease in the extracellular concentration of Na+ [( Na+]o) inhibited H2O2 production; (e) monensin, a Na+/H+ exchange ionophore, enhanced tumor cytotoxicity by neutrophils.
Transcranial Magnetic Stimulation Disrupts the Perception and Embodiment of Facial Expressions (2008)

Theories of embodied cognition propose that recognizing facial expressions requires visual processing followed by simulation of the somatovisceral responses associated with the perceived expression. To test this proposal, we targeted the right occipital face area (rOFA) and the face region of right somatosensory cortex (rSC) with repetitive transcranial magnetic stimulation (rTMS) while participants discriminated facial expressions. rTMS selectively impaired discrimination of facial expressions at both sites but had no effect on a matched face identity task. Site specificity within the rSC was demonstrated by targeting rTMS at the face and finger regions while participants performed the expression discrimination task. rTMS targeted at the face region impaired task performance relative to rTMS targeted at the finger region. To establish the temporal course of visual and somatosensory contributions to expression processing, double-pulse TMS was delivered at different times to rOFA and rSC during expression discrimination. Accuracy dropped when pulses were delivered at 60-100 ms at rOFA and at 100-140 and 130-170 ms at rSC. These sequential impairments at rOFA and rSC support embodied accounts of expression recognition as well as hierarchical models of face processing. The results also demonstrate that nonvisual cortical areas contribute during early stages of expression processing.
Structure elucidation and 3D solution conformation of the antibiotic enduracidin determined by NMR spectroscopy and molecular dynamics (2005)

Enduracidin and ramoplanin belong to the large family of cyclodepsipeptide antibiotics, highly effective against Gram-positive bacteria. The primary and 3D solution structure of ramoplanin is already well known, and the primary structure of enduracidin has been determined by a combination of chemical and NMR spectroscopic methods. Both antibiotics share a similar peptide core of 17 amino acids and differ mainly in the length of the acyl chain and the presence of two D-mannose moieties in ramoplanin. Based on the high sequence homology with ramoplanin, the structure in solution of enduracidin is modeled as a cyclic peptide. The tertiary structure thus obtained was refined through molecular dynamics (MD) simulation, in which the interatomic NOE-derived distance restraints were imposed. MD simulations yielded a family of representative 3D structures (RMSD = 0.89), which highlighted a backbone geometry similar to that of ramoplanin in its beta-hairpin arrangement. In contrast, enduracidin displays a different arrangement of the side-chain and of the residues forming the hydrophobic core.
Growth and properties of strained Si<sub>1-x-y</sub>Ge<sub>x</sub>C<sub>y</sub>layers (1995)

Advances made in the growth and properties of CSi and CSiGe pseudomorphic strained layers are reviewed. The solubility of C in Si is small (3.5*1017 atoms/cm3 near the melting point). However, high-quality strained layers of the alloys with considerably larger C concentrations have been grown using MBE, CVD and solid-phase epitaxy methods. A careful control of the growth rate and temperature is necessary to avoid formation of silicon carbide. In high-quality layers, most of the C atoms occupy lattice positions of the Si or SiGe host crystals and a substitutional alloy is formed although the equilibrium volume of C atoms is only 30% of that of Si. The formation and stability of alloys of atoms with large differences in size is a topic of fundamental interest. Experimental and theoretical investigations have focused on the microscopic structure of substitutional Si1-x-yGexCy alloys. C compensates the compressive strain produced by Ge in the pseudomorphic layers grown on a Si substrate. From Raman studies of the microscopic strain in substitutional Si1-x-yGexCy alloys it has been concluded that Si-Si bonds experience a considerable local deformation even in strain-compensated alloys. The pair interaction of substitutional C atoms in an Si lattice and the possibility of forming ordered alloys have been studied theoretically. It has been found that the interaction of pairs of substitutional C atoms is attractive for special atomic configurations. Information available on electronic properties is rather meagre. Recent theoretical work shows that the bandgap of the alloy should decrease with C concentration. Experiments to confirm this have not yet been performed. Using strain-compensated alloys it is possible to grow symmetrically strained superlattices without the need of growing buffer layers. Si1-x-yGexCy strained layers are likely to be very useful for passive applications such as buffer layers. Considerably more work is required to determine their utility for active device applications.
Adenosine stimulation of DNA synthesis in human endothelial cells (1997)

We investigated adenosine stimulation of DNA synthesis in human endothelial cells by measuring [3H]thymidine incorporation in cultures derived from human umbilical veins. After 18 h of exposure to adenosine in serum-free medium, endothelial cell [3H]thymidine incorporation was increased by 30-64%. Adenosine-induced DNA synthesis was not mimicked by adenosine receptor agonists and was not inhibited by adenosine receptor antagonists. Adenosine-induced DNA synthesis was inhibited 81% by 100 microM 5'-(N,N-dimethyl)amiloride, an inhibitor of Na+/H+ exchange, and was totally inhibited by 10 microM 2',4'-dibromoacetophenone, an inhibitor of phospholipase A2 (PLA2). Adenosine increased adenosine 3',5'-cyclic monophosphate levels in endothelial cells, but adenosine-induced DNA synthesis was not inhibited by the protein kinase A (PKA) inhibitor Rp-cAMPS. Both ATP and the phorbol ester 4beta-phorbol 12-myristate 13-acetate (PMA) increased DNA synthesis in human endothelial cells. Stimulation by ATP was inhibited by the P2-receptor antagonist suramin, and PMA stimulation was inhibited by the protein kinase C (PKC) inhibitor H-7. Neither suramin nor H-7 inhibited adenosine-stimulated DNA synthesis. The results suggest that Na+/H+ exchange and PLA2 are involved in adenosine-induced DNA synthesis in cultures of human endothelial cells independently of adenosine receptor, PKA, or PKC activation.
Efficient use of wireless bandwidth for multimedia applications (2003)

Two rapidly evolving and merging technologies are the Internet and wireless data communications. Another trend is the increased use of real-time multimedia applications for audio and video communication. The most popular transport protocol among these delay sensitive applications is UDP (user datagram protocol), which is a lightweight protocol that provides multiplexing among user processes and has low protocol processing overhead. UDP's checksum policy is to protect either an entire packet including UDP and IP headers or nothing in the packet at all. This conforms badly with applications that prefers errors in the payload to the loss of whole packets. Many real-time applications fall into this category. We present a new protocol, UDP Lite, that provides the kind of protection often needed by these real time applications especially when they are run over wireless networks. UDP Lite increases the flexibility of UDP by providing an optionally partial checksum. Each packet can be optionally divided into a sensitive and an insensitive part by the sender. Errors in the sensitive part will cause packets to be discarded by the UDP Lite receiver, while errors in the insensitive part are ignored by UDP Lite. We show how UDP Lite uses a wireless network more efficiently for two different scenarios. By combining UDP Lite with compressed RTP, the gain can be even higher. Simulations show that the error rate of the network can increase by almost an order of magnitude without increasing the packet loss ratio. This enables cheaper network solutions for applications such as IP telephony.
131. The constitution of oroxylin-A, a yellow colouring matter from the root-bark of Oroxylum indicum, vent (1936)

R. C. Shah, C. R. Mehta and T. S. Wheeler, J. Chem. Soc., 1936, 591 DOI: 10.1039/JR9360000591
Multirobot inspection of industrial machinery (2009)

Inspection of aircraft and power generation machinery using a swarm of miniature robots is a promising application both from an intellectual and a commercial perspective. Our research is motivated by a case study concerned with the inspection of a jet turbine engine by a swarm of miniature robots. This article summarizes our efforts that include multirobot path planning, modeling of self-organized robotic systems, and the implementation of proof-of-concept experiments with real miniature robots. Although other research tackles challenges that arise from moving within three-dimensional (3-D) structured environments at the level of the individual robotic node, the emphasis of our work is on explicitly incorporating the potential limitations of the individual robotic platform in terms of sensor and actuator noise into the modeling and design process of collaborative inspection systems. We highlight difficulties and further challenges on the (lengthy) path toward truly autonomous parallel robotic inspection of complex engineered structures.
Unified Image Fusion Framework With Learning-Based Application-Adaptive Importance Measure (2018)

This paper presents a novel unified image fusion framework based on an application-adaptive importance measure. In the proposed framework, an important area is selected using the importance measure obtained for each image type in each application. The key is to learn this application-adaptive importance measure that can select the important area irrespective of the input image type without manually designing the algorithm for each application. Then, the fused intensity is generated using Poisson image reconstruction. Experimental results demonstrate that the proposed framework is effective for various applications including depth-perceptible image enhancement, temperature-preserving image fusion, and haze removal.
Modeling and Implementation of A 6-Bit, 50MHz Pipelined ADC in CMOS (2016)

The pipelined ADC is a popular Nyquist-rate data converter due to its attractive feature of maintaining high accuracy at high conversion rate with low complexity and power consumption. The rapid growth of its application such as mobile system, digital video and high speed data acquisition is driving the pipelined ADC design towards higher speed, higher precision with lower supply voltage and power consumption. This thesis project aims at modeling and implementation of a pipelined ADC with high speed and low power consumption.
On-chip spur and phase noise cancellation techniques (2017)

Two techniques for spur and phase noise cancellation have been proposed. A fully integrated design achieves a measured spur cancellation of 15dB at 250MHz and 750MHz offset as well as phase noise cancellation from 4MHz to 200MHz offset with maximum 25dB cancellation depth for a 1-GHz clock. The proposed ideas have been verified through a fabricated 65nm CMOS prototype with power consumption of 11mW from a supply voltage of 1.2V.