Search results for "Icing"

showing 10 items of 491 documents

Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder

2021

ARHGEF9 defects lead to an X-linked intellectual disability disorder related to inhibitory synaptic dysfunction. This condition is more frequent in males, with a few affected females reported. Up to now, sequence variants and gross deletions have been identified in males, while only chromosomal aberrations have been reported in affected females who showed a skewed pattern of X-chromosome inactivation (XCI), suggesting an X-linked recessive (XLR) disorder. We report three novel loss-of-function (LoF) variants in ARHGEF9: A de novo synonymous variant affecting splicing (NM_015185.2: c.1056G>A, p.(Lys352=)) in one female; a nonsense variant in another female (c.865C>T, p.(Arg289*)), that is, a…

MaleX-linked intellectual disabilitymedia_common.quotation_subjectNonsenseMutation MissenseBiology03 medical and health sciencesGenes X-LinkedX Chromosome InactivationIntellectual DisabilityIntellectual disabilityGeneticsmedicineHumansMissense mutationGenetics (clinical)Loss function030304 developmental biologymedia_commonGenetics0303 health sciences030305 genetics & hereditymedicine.diseaseCodon NonsenseRNA splicingFemaleRho Guanine Nucleotide Exchange FactorsHuman Mutation
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Alternative splicing of SMPD1 in human sepsis.

2015

Acid sphingomyelinase (ASM or sphingomyelin phosphodiesterase, SMPD) activity engages a critical role for regulation of immune response and development of organ failure in critically ill patients. Beside genetic variation in the human gene encoding ASM (SMPD1), alternative splicing of the mRNA is involved in regulation of enzymatic activity. Here we show that the patterns of alternatively spliced SMPD1 transcripts are significantly different in patients with systemic inflammatory response syndrome and severe sepsis/septic shock compared to control subjects allowing discrimination of respective disease entity. The different splicing patterns might contribute to the better understanding of th…

Malelcsh:MedicineWhite blood cells ; Sequence analysis ; Messenger RNA ; Enzyme regulation ; Sepsis ; Introns ; Systematic inflammatory response syndrome ; Alternative splicingBiologySphingomyelin phosphodiesteraseSepsisSepsismedicineLeukocytesHumanslcsh:ScienceAgedMultidisciplinarySeptic shockAlternative splicinglcsh:RIntronMiddle Agedmedicine.diseaseSystemic inflammatory response syndromeIsoenzymesAlternative SplicingSphingomyelin PhosphodiesteraseCase-Control StudiesImmunologyRNA splicinglcsh:QFemaleAcid sphingomyelinasemedicine.drugResearch ArticlePloS one
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Pan-cancer analysis of whole genomes

2020

Publisher's version (útgefin grein)

Maletert promoter mutationsCancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2]DNA Mutational AnalysisNormal tissuesystematic analysisGermlineTranscriptome0302 clinical medicineAetiologyCàncerCellular SenescenceCancer0303 health sciencesdna-damageMassive parallel sequencingPan cancerREARRANGEMENTSHigh-Throughput Nucleotide SequencingGenomicsSciences bio-médicales et agricolesTelomereCOMPREHENSIVE3. Good healthTERT PROMOTER MUTATIONSsignatures030220 oncology & carcinogenesisScience & Technology - Other TopicsErfðarannsóknirHuman:Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC]EvolutionRNA SplicingGenomicsArticleEvolution MolecularStructural variationRC025403 medical and health sciencesSDG 3 - Good Health and Well-beingGeneticgenomicsSYSTEMATIC ANALYSISGeneticsGenomics--Databases.HumansGenetic TestingMolecular BiologySIGNATURESWhole genome sequencing1000 MultidisciplinaryChromothripsisScience & TechnologyRC0254 Neoplasms. Tumors. Oncology (including Cancer)Information DisseminationResearchInstitutes_Networks_Beacons/mcrcPreventionBiology and Life SciencesMolecularOncogenesCloud Computingmedicine.diseaseGenòmicaCompute cloudsMutation570 Life sciences; biologyCOMPREHENSIVE CHARACTERIZATIONGenèticaWhole Genome Sequencing--methodsBackground informationDNA Mutational Analysis ; Evolution ; Genetic / genetics ; Genome ; Genomics ; Germ-Line Mutation / genetics ; High-Throughput Nucleotide Sequencing ; Human / genetics ; Humans ; ICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumMedizinGenomeWhole-genomeGenome mappingNeoplasms2.1 Biological and endogenous factorsPromoter Regions GeneticCàncer -- Aspectes genèticsTelomeraseGeneticsWomen's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17]MultidisciplinaryChromothripsisGenomeManchester Cancer Research Centregenomics cancer profiling3rd-DAS10124 Institute of Molecular Life SciencesWomen's cancers Radboud Institute for Health Sciences [Radboudumc 17]Multidisciplinary SciencesParallel sequencingICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumFemaleprofilingMedical GeneticsEngineering sciences. TechnologyBiotechnologyGeneral Science & TechnologyThe Cancer Genome Atlas610 Medicine & healthComputational biologyQH426 GeneticsBiologyConsortium of the International Cancer Genome ConsortiumPromoter RegionsGermline mutationPan-cancer analysisKrabbameinsrannsóknirmedicinecancerddc:610QH426Germ-Line MutationMedicinsk genetikKrabbamein030304 developmental biologyCell ProliferationLANDSCAPEGenome Humancomprehensive characterizationPan-cancer analysis of whole genomesPoint mutationHuman GenomeCancerReproducibility of ResultsSOMATIC MUTATIONSEVOLUTIONCancer sequencing Chromothripsis telomereDNA-DAMAGEMutagenesisPATTERNS3111 BiomedicineCHARACTERIZATION
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Unstructural Biology of TRP Ion Channels: The Role of Intrinsically Disordered Regions in Channel Function and Regulation

2021

The first genuine high-resolution single particle cryo-electron microscopy structure of a membrane protein determined was a transient receptor potential (TRP) ion channel, TRPV1, in 2013. This methodical breakthrough opened up a whole new world for structural biology and ion channel aficionados alike. TRP channels capture the imagination due to the sheer endless number of tasks they carry out in all aspects of animal physiology. To date, structures of at least one representative member of each of the six mammalian TRP channel subfamilies as well as of a few non-mammalian families have been determined. These structures were instrumental for a better understanding of TRP channel function and …

Mammals0303 health sciencesRNA SplicingCryoelectron MicroscopyAlternative splicingProteinsComputational biologyLipids03 medical and health sciencesCrosstalk (biology)Transient receptor potential channelTransient Receptor Potential Channels0302 clinical medicineProtein sequencingMembrane proteinStructural biologyStructural BiologyAnimalsHumansProtein Processing Post-TranslationalMolecular Biology030217 neurology & neurosurgeryIon channel030304 developmental biologyCommunication channelJournal of Molecular Biology
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Study regarding the influence of material type on economic objectives in MEx fabrication

2021

Material Extrusion has been used extensively as an additive manufacturing technology for a variety of applications like visual models, functional prototypes, tooling components, patterns for castings, and final parts. The current research paper proposes a study on the material type influence on economic objectives in material extrusion fabrication of complex assemblies. Three economic objectives have been analysed, namely, estimated fabrication time, material usage and material cost, whilst two commercial additive manufacturing machines have been considered for the simulation. Cura and ZSuite slicing software were used for the generation of Gcode and project files. Five filaments were selec…

Manufacturing technologyMaterial typeFabricationSoftwarebusiness.industryComponent (UML)ExtrusionTA1-2040Engineering (General). Civil engineering (General)businessSlicingManufacturing engineering
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Learning and the Price Dynamics of a Double-Auction Financial Market with Portfolio Traders

2006

In this paper we study the dynamics of price adjustments in an artificial market where portfolio traders with bounded rationality and limited resources interact through a continuous, electronic open book. The present work extends the model developed in [? ] introducing endogenous target individual portfolio holdings. We model the agents’ order-flow investment decision as an optimal choice given individual characteristics and the available information. We depart from the standard asset pricing framework in two ways. First, we assume that investors have imperfect information about the returns distribution. In particular, we assume that agents hold arbitrary priors about securities’ returns, w…

Mark to modelMarket depthCapital market lineFinancial economicsPortfolio insuranceReplicating portfolioEconometricsCapital asset pricing modelPortfolioAsset allocationBusinessRisky AssetPrice Dynamics Asset Return Limit Order Tail Dependence
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On the evolution of monopoly pricing in Internet-assisted search markets

2014

This study examines the evolution of prices in markets with Internet price-comparison search engines. The empirical study analyzes laboratory data of prices available to informed consumers, for two industry sizes and two conditions on the sample (complete and incomplete). Distributions are typically bimodal. One of the two modes of distribution, corresponding to monopoly pricing, tends to attract such pricing strategies increasingly over time. The second one, corresponding to interior pricing, follows a decreasing trend. Monopoly pricing can serve as a means of insurance against more competitive (but riskier) behavior. In fact, experimental subjects who initially earn low profits due to int…

MarketingAverage cost pricingInternet Economics price-comparison search engines mixed strategy equilibria experimental economicsPsychological pricingFinancial economicsConsumption-based capital asset pricing modeljel:L1MicroeconomicsInvestment theoryPricing strategiesjel:L4Variable pricingjel:D0Economicsjel:D2Rational pricingMonopoly
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An empirical analysis of the determinants of price tolerance

2004

In the context of pricing strategies, the notion of price tolerance is an important construct for academic researchers and marketing managers. In this article, a conceptual model of factors influencing the level of price tolerance is proposed and empirically tested with the use of data collected from airline passengers. The results support most propositions of the conceptual model and offer several insights for managerial action and further academic research.

MarketingMicroeconomicsPricing strategiesAction (philosophy)media_common.quotation_subjectConceptual modelEconomicsContext (language use)MarketingConstruct (philosophy)Applied Psychologymedia_commonPsychology and Marketing
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Latvian pharmaceutical market: a review of marketing components and development trends

2021

In-depth market assessment is crucial prior making investments into product development and decisions on marketing strategy, especially in markets with small volume and low value like Latvian pharmaceutical market. Transparent market data and constant market reviews are expected to retain already existing pharmaceutical suppliers and attract new ones; although annual reports of general market figures are available publicly, reviews of pharmaceutical market marketing figures and activities are not being published. By assessing and studying Latvian pharmaceutical market and its marketing components the possible risks and development trends can be outlined and further addressed by pharmaceutic…

MarketingPharmaceutical Market:SOCIAL SCIENCES::Business and economics [Research Subject Categories]Pharmaceutical distributionPharmaceutical Pricing
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Toward an understanding of price wars: Their nature and how they erupt

2001

Abstract This paper aims to improve our understanding of the unique phenomenon of market competition, called price wars, as little is known about their nature and how they erupt. More precisely, we offer selected illustrations of the reality of price wars, identify key attributes of price wars, propose a definition of price wars, and offer a conceptual framework in which early warning signals (EWSs) of price wars are distilled and linked to the likelihood and the intensity of such wars. Also, initial empirical findings on some of the effects of price wars are offered, showing that price wars inflict substantial damage on the companies involved. Implications for researchers entail that numer…

MarketingPricing strategiesMarket competitionWarning systemPublic economicsConceptual frameworkFinancial economicsPhenomenonEconomicsPortfolioPrice warResearch opportunitiesInternational Journal of Research in Marketing
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