Search results for "ML"

showing 10 items of 1465 documents

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

2021

Abstract Background Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy and renal abnormalities. Together with Alstrom syndrome (AS), they are known as the ‘obesity ciliopathies’ due to their common phenotype. Nonsense mutations are responsible for approximately 11% and 40% of BBS and AS cases, respectively. Translational readthrough inducing drugs (TRIDs) can restore full-length protein bypassing in-frame premature termination codons, and are a potential therapeutic approach for nonsense-mediated ciliop…

BBS2AdultMaleMedicine (General)AdolescentNonsense mutationAminopyridinesCell Cycle ProteinsCiliopathiesGeneral Biochemistry Genetics and Molecular Biologychemistry.chemical_compoundR5-920AtalurenCiliogenesismedicineHumansReceptors SomatostatinBardet-Biedl SyndromeAlstrom SyndromeCells CulturedOxadiazolesbusiness.industryTumor Suppressor ProteinsTranslational readthroughRProteinsGeneral MedicineFibroblastsmedicine.diseaseNonsense suppressionCiliopathiesAtalurenCiliopathyALMS1chemistryCodon NonsenseAmlexanoxCancer researchMedicineBBS2businessAlström syndromeResearch PaperEBioMedicine
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Comparison of pulsed-field gel electrophoresis and whole-genome-sequencing-based typing confirms the accuracy of pulsed-field gel electrophoresis for…

2020

Summary Aim To determine whether pulsed-field gel electrophoresis (PFGE) accurately recognizes isolates belonging to clusters defined by techniques based on whole-genome sequencing (WGS) using Pseudomonas aeruginosa as a model. Methods We selected 65 isolates of ST395 P. aeruginosa isolated in seven European hospitals between 1998 and 2012. Isolates were typed by PFGE and sequenced by WGS. A core genome multi-locus sequence typing (cgMLST) analysis based on 3831 genes was performed with a homemade pipeline. Findings PFGE identified eight pulsotypes and cgMLST differentiated nine clusters and nine singletons. Five cgMLST clusters and pulsotypes (31/65 isolates) coincided perfectly. Isolates …

Bacterial typingMicrobiology (medical)030501 epidemiologymedicine.disease_causeGenomeDisease Outbreaks03 medical and health sciencesPulsed-field gel electrophoresisHumansMedicinePseudomonas InfectionsTypingPulsed-field gel electrophoresisReference standardsGel electrophoresisWhole genome sequencingGeneticsWhole-genome sequencing0303 health sciencesWhole Genome Sequencing030306 microbiologybusiness.industryPseudomonas aeruginosaOutbreaksReproducibility of ResultsOutbreakGeneral MedicineBacterial Typing TechniquesElectrophoresis Gel Pulsed-FieldEurope[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyInfectious DiseasesPseudomonas aeruginosacgMLST0305 other medical sciencebusinessGenome BacterialMultilocus Sequence TypingJournal of Hospital Infection
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Journal of Baltic Linguistics

2014

Grasilda BLAŽIENĖ. Deappellativische Ortsnamen im Samland ; Trevor G. FENNELL.Pareizības kritēriji latviešu valodā: vēsturisks un mūsdienu pārskats ; Gintarė JUDŽENTYTĖ. Vietas adverbu semantikas apraksti pirmajās latviešu un lietuviešu zinātniskajās gramatikās, to attīstība ; Rolandas KREGŽDYS. Leksiniai skoliniai – tautų kultūrinės interferencijos refleksija: lietuvių kalbos polonizmai-semitizmai ; Broņislavs SPŪLIS. Vārkavas pagasta izloksne ; Baltijas studiju 10. konference Eiropā (Tallinā, 2013. gada 16.–19. jūnijā) (Laimute Balode) ; Latgalistikas konferenču turpinājums (2010–2013) (Sanita Lazdiņa, Lidija Leikuma, Nicole Nau) ; Ieva Kalniņa. Recenzija (Šuplinska, Ilga. (galv. red.) La…

Baltijas studiju 10. konference (2013. gada 16.–19. jūnijs Tallina)ApelatīviVārkavas pagasta izloksneLatviešu valoda - Pareizības kritērijsVietas adverbu semantikas apraksts:HUMANITIES and RELIGION::Languages and linguistics::Other languages::Baltic languages [Research Subject Categories]Rēzeknes Augstskola 2012. 875 lpp. ) [Recenzija (Šuplinska Ilga (galv. red.). Latgales ligvoteritoriālā vārdnīca. 2 sējumos. I. Rēzekne]Polonismi-semītismi lietuviešu valodāSembas (Zamlandes) oikonīmiStarptautiskā latgalistikas konference
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NILLTPFN prasību izpildes bankās Latvijā iespējas izmantojot ārpakalpojumu, Swedbank AS situācijas izvērtējums

2021

Maģistra darba mērķis ir pamatojoties uz NILLTPFN likuma prasību īstenošanu banku praksē, analizēt un novērtēt Latvijas banku un padziļinātāk Swedbank AS sadarbību ar ārpakalpojumu sniedzējiem, izstrādāt priekšlikumus ārpakalpojuma piesaistes procesa uzlabošanā Swedbank AS un kopumā arī citām Latvijas bankām. Darbā pētīta NILLN prasību ietekme uz ārpakalpojuma piesaisti bankām Latvijā. NILLN pakalpojumu sniedzēju skaits ir ierobežots, ārpakalpojuma piesaiste nav vienkārša. Tēma ir aktuāla, jo bankas Latvijā ir saņēmušas ievērojamus administratīvos sodus par NILLN prasību pārkāpumiem, cieš reputācija. Augstākajās izglītības iestādēs Latvijā netiek piedāvāts apgūt padziļinātāk NILLN. Pētījumā…

Bankas LatvijāNILLTPFNAMLĀrpakalpojumsSwedbankEkonomika un uzņēmējdarbība
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Service discovery protocols in D2D-enabled cellular networks: Reactive versus proactive

2014

Device-to-Device (D2D) communication, which allows access services offered by nearby devices bypassing the base station, has been regarded as an essential component of the emerging 5G mobile networks. Many advantages can be provided by this direct communication paradigm such as high data rate, traffic offloading, range extension, as well as proximity services and social networking. In such a context, service discovery approaches need to be investigated. In this paper, we propose two protocols for service discovery, namely, reactive (pull) discovery and proactive (push) discovery in infrastructure-coordinated D2D networks. The protocol overhead is calculated and numerical results are provide…

Base stationProtocol overheadSocial networkbusiness.industryComputer scienceComponent (UML)Service discoveryCellular networkContext (language use)businessProtocol (object-oriented programming)5GComputer network2014 IEEE Globecom Workshops (GC Wkshps)
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Numerical and experimental validation of a LiFePO<inf>4</inf> battery model at steady state and transient operations

2013

In the paper some of the battery models proposed in literature are analysed in order to predict the battery performance and, then, make sure that the Battery Management System (BMS) that is a key component to check and control the status of the batteries within their specified safe operating conditions, works in best conditions. In fact to reach an extended battery lifetime and increase the reliability of the system, is necessary to guarantee an accurate evaluation of the state of the whole stack of batteries to track their operations. Therefore, an accurate battery model that captures the dynamics of the battery is required. Lithium batteries are in particular considered because of their h…

Battery (electricity)EngineeringSteady state (electronics)business.industryEnergy storageAutomotive engineeringElectric power systemReliability (semiconductor)Hardware_GENERALDistributed generationComponent (UML)Electronic engineeringTransient (oscillation)business2013 Eighth International Conference and Exhibition on Ecological Vehicles and Renewable Energies (EVER)
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Tunable antenna system for plug&play satellite avionics: Prototyping and test

2014

In the framework of an ESA program, a new architecture for plug&play compact antenna systems in the X band has been investigated and experimentally verified by many prototypes. The proposed antenna system takes inspiration from the LEGO building toys: the basic component of the new architecture is a 2.7cm-cube complex module that integrates a three-dimensional local network and a programmable mechanism based on the bonding-wire technology to select one among three polarization options. Elemental blocks can be augmented by accessories to shape the beam and may be used in array configuration over boards provided with cluster-level beamforming networks. Measurements have been performed for bot…

BeamformingEngineeringReconfigurable antennaantenna satellitebusiness.industryConformal antennaX bandLocal area networkAvionicsSettore ING-INF/01 - ElettronicaSettore FIS/07 - Fisica Applicata(Beni Culturali Ambientali Biol.e Medicin)law.inventionlawComponent (UML)Electronic engineeringAntenna (radio)businessThe 8th European Conference on Antennas and Propagation (EuCAP 2014)
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The efficiency of LiDAR HMLS scanning in monitoring forest structure parameters: implications for sustainable forest management

2022

PurposeThis article aims to compare the LiDAR handheld mobile laser scanner (HMLS) scans with traditional survey methods, as the tree gauge and the hypsometer, to study the efficiency of the new technology in relation to the accuracy of structural forest attributes estimation useful to support a sustainable forest management.Design/methodology/approachA case study was carried out in a high forest located in Tuscany (Italy), by considering 5 forest types, in 20 different survey plots. A comparative analysis between two survey methods will be shown in order to verify the potential limits and the viability of the LiDAR HMLS in the forest field.FindingsThis research demonstrates that LiDAR HMLS…

Big data Organisational efficiency Digitalisation Sustainable business models Forest structure Precision forestry LIDAR HMLS.General Business Management and AccountingFinanceEuroMed Journal of Business
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Bio-inspired security analysis for IoT scenarios

2020

Computer security has recently become more and more important as the world economy dependency from data has kept growing. The complexity of the systems that need to be kept secure calls for new models capable of abstracting the interdependencies among heterogeneous components that cooperate at providing the desired service. A promising approach is attack graph analysis, however, the manual analysis of attack graphs is tedious and error prone. In this paper we propose to apply the metabolic network model to attack graph analysis, using three interacting bio-inspired algorithms: topological analysis, flux balance analysis, and extreme pathway analysis. A developed framework for graph building…

Bio-inspired techniqueService (systems architecture)Security analysisIoTDependency (UML)Computer scienceNetwork securityDistributed computingmedia_common.quotation_subject0211 other engineering and technologies02 engineering and technologyMetabolic networksAttack graphs; Bio-inspired algorithms; Bio-inspired techniques; IoT; Metabolic networks; Network security; Security analysis; System securityAttack graph03 medical and health sciences0302 clinical medicineUse casemedia_common021110 strategic defence & security studiesSecurity analysisbusiness.industryMetabolic network030208 emergency & critical care medicineBio-inspired techniquesNetwork securitySystem securityFlux balance analysisInterdependenceHardware and ArchitectureBio-inspired algorithmGraph (abstract data type)businessSoftwareAttack graphsBio-inspired algorithms
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Development of Applications for Interactive and Reproducible Research: a Case Study

2016

For a proper understanding of the organization and regulation of gene expression, the computational analysis is an essential component of the scientific workflow, and this is particularly true in the fields of biostatistics and bioinformatics. Interactivity and reproducibility are two highly relevant features to consider when adopting or designing a tool, and often they can not be provided simultaneously.In this work, we address the issue of developing a framework that can provide interactive analysis, in order to allow experimentalists to fully exploit advanced software tools, as well as reproducibility as an internal validation of the analysis steps, by providing the underlying code and d…

BioconductorExploratory data analysisSoftwareInteractivityWorkflowExploitbusiness.industryComputer scienceComponent (UML)Big dataSoftware engineeringbusinessData scienceGenomics and Computational Biology
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