Search results for "ML"

showing 10 items of 1465 documents

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Data…

2021

Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic …

cancer incidence0302 clinical medicineMalalties hereditàriesMissense mutation8Q23.3CàncerCancerGenetics0303 health sciencesmedicine.diagnostic_testFactors de risc en les malaltiesMISMATCH REPAIR GENESRMLH1General MedicinePenetranceLynch syndrome3. Good healthsyöpägeenit030220 oncology & carcinogenesisMedicinesyöpätauditilmaantuvuusGenetic diseasescongenital hereditary and neonatal diseases and abnormalitiesmissense11Q23.1Risk factors in diseasesCANCER-RISKMLH1Articleaberrant splicing03 medical and health sciencesAGEmedicineGenetic predispositionddc:610<i>MSH2</i>Lynchin oireyhtymäpenetrance030304 developmental biologyGenetic testingMLH1; MSH2; penetrance; cancer incidence; truncating; missense; aberrant splicing; Lynch syndromeperinnölliset tauditbusiness.industryMUTATIONSHMSH2Cancernutritional and metabolic diseasesmedicine.diseasedigestive system diseasesMSH2Lynch syndromeMSH23121 General medicine internal medicine and other clinical medicine<i>MLH1</i>businesstruncating
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Instruction of haematopoietic lineage choices, evolution of transcriptional landscapes and cancer stem cell hierarchies derived from an AML1-ETO mous…

2013

The t(8;21) chromosomal translocation activates aberrant expression of the AML1-ETO (AE) fusion protein and is commonly associated with core binding factor acute myeloid leukaemia (CBF AML). Combining a conditional mouse model that closely resembles the slow evolution and the mosaic AE expression pattern of human t(8;21) CBF AML with global transcriptome sequencing, we find that disease progression was characterized by two principal pathogenic mechanisms. Initially, AE expression modified the lineage potential of haematopoietic stem cells (HSCs), resulting in the selective expansion of the myeloid compartment at the expense of normal erythro- and lymphopoiesis. This lineage skewing was foll…

cancer stem cellsCancer stem cells; Core binding factor acute myeloid leukaemia; Preclinical mouse model; Therapy target validation; Whole transcriptome sequencingMyeloidtherapy target validationOncogene Proteins FusionCloseupsBiologyGranulocyte-Macrophage Progenitor CellsTranslocation Geneticwhole transcriptome sequencingImmunophenotypingMiceGranulocyte-Macrophage Progenitor CellsCancer stem cellhemic and lymphatic diseasesmedicineAML1-ETOAnimalsCell Lineageacute myeloid leukaemiaLymphopoiesisProgenitor cellt(8;21)Research Articlespreclinical mouse modelGeneticsRegulation of gene expressionAntibiotics AntineoplasticSequence Analysis RNAcore binding factor acute myeloid leukaemiainducible mouse-modelHematopoietic Stem CellsMice Inbred C57BLDisease Models AnimalLeukemia Myeloid AcuteHaematopoiesisPhenotypemedicine.anatomical_structureGene Expression RegulationDoxorubicinCancer researchNeoplastic Stem CellsMolecular MedicineStem cell
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Teksta iegūšana no HTML5 canvas elementiem

2016

HTML5 canvas elements un visa tajā atveidotā informācija pēc būtības ir attēls, līdz ar to, no lietojamības viedokļa, grūti pieejams lietotājiem, it īpaši redzes invalīdiem, kuri paļaujas uz ekrāna lasīšanas programmatūru. Darbā pētītas vairākas dažādas metodes HTML5 canvas elementos zīmētās teksta informācijas iegūšanai no lietotāja puses, ļaujot tekstu iezīmēt, kopēt un padarot to pieejamu ekrāna lasīšanas programmatūrai, tādējādi uzlabojot tīmekļa vides lietojamību, it īpaši cilvēkiem ar redzes problēmām. Darba rezultātā veiksmīgi izveidots JavaScript spraudnis, kuru tīmekļa lietotņu izstrādātāji var izmantot, lai bez piepūles zīmētu iezīmējamu, kopējamu un ekrāna lasītājiem pieejamu tek…

canvasHTMLJavaScriptDatorzinātnespraudnisekrāna lasītāji
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Unit 3: the capital asset pricing model (capm). parte teórica

2022

La unidad se basa en cml, cml y el modelo capm.

capmUNESCO::CIENCIAS ECONÓMICAScmlsml
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Unit 3: the capital asset pricing model (capm). parte práctica

2022

actividades relacionadas con la cml, sml y capm

capmUNESCO::CIENCIAS ECONÓMICASsmlcml
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New insights for materials science characterisation using different complementary techniques combined with X-ray absorption Spectroscopy

2005

The combination of x-ray absorption spectroscopy (XAS) with UV-Vis and Raman spectroscopies or with Differential Scanning Calorimetry (DSC) has been recently carried out on the D44 beamline of DCI-LURE. The different set-ups used to perform such combinations are described and examples of combined investigations belonging to different field of materials science (coordination chemistry, sol-gel and catalysis) are presented.

chemistry.chemical_classificationX-ray absorption spectroscopyMaterials scienceAbsorption spectroscopyField (physics)Analytical chemistryCondensed Matter PhysicsAtomic and Molecular Physics and OpticsCatalysisCoordination complexsymbols.namesakeDifferential scanning calorimetryBeamlinechemistrysymbolsRaman spectroscopyMathematical Physics
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Fiberless, Multi-Channel fNIRS-EEG System Based on Silicon Photomultipliers: Towards Sensitive and Ecological Mapping of Brain Activity and Neurovasc…

2020

Portable neuroimaging technologies can be employed for long-term monitoring of neurophysiological and neuropathological states. Functional Near-Infrared Spectroscopy (fNIRS) and Electroencephalography (EEG) are highly suited for such a purpose. Their multimodal integration allows the evaluation of hemodynamic and electrical brain activity together with neurovascular coupling. An innovative fNIRS-EEG system is here presented. The system integrated a novel continuous-wave fNIRS component and a modified commercial EEG device. fNIRS probing relied on fiberless technology based on light emitting diodes and silicon photomultipliers (SiPMs). SiPMs are sensitive semiconductor detectors, whose large…

clinical brain monitoringBrain activity and meditationComputer scienceneurovascular couplingElectroencephalographylcsh:Chemical technologySettore ING-INF/01 - Elettronica01 natural sciencesBiochemistryArticleAnalytical Chemistry010309 optics03 medical and health sciences0302 clinical medicineSilicon photomultiplierNeuroimagingInterference (communication)Component (UML)0103 physical sciencesmedicineHumanslcsh:TP1-1185electroencephalography (EEG)Electrical and Electronic EngineeringSpectroscopyInstrumentationBrain MappingSpectroscopy Near-Infraredmedicine.diagnostic_testEcologyHemodynamicsmultimodal neuroimagingBrainMultimodal neuroimagingElectroencephalographyNeurophysiologyAtomic and Molecular Physics and Opticsmedicine.anatomical_structureFPGA Brain Oxygenation Map clinical brain monitoringScalpSettore ING-INF/06 - Bioingegneria Elettronica E Informaticasilicon photomultipliers.Neurovascular couplingsilicon photomultipliers030217 neurology & neurosurgeryfunctional near infrared spectroscopy (fNIRS)Sensors
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Java-COM integration with JACOB using XML wrappers

2006

Many Windows-based legacy applications can be programmatically accessed using COM interfaces. However, calling COM components from Java is not straightforward. This report compares four open source Java-COM integration packages. A technique for typesafe Java-COM integration is presented. The technique is based on typesafe COM interface wrappers using jcom, java2com and JACOB libraries. Examples with Microsoft Office applications are presented. XML wrapper and code generator can be bundled with future JACOB releases as an alternative to Jacobgen wrapper generator. nonPeerReviewed

component architecturessovellusintegrointiapplication integrationXMLcomJavakomponenttiarkkitehtuurit
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Spatialization of the Semantic Web

2012

syntax for Horn-like rules. The SWRL as the form, antecedentconsequent, where both antecedent and consequent are conjunctions of atoms written a1^ ... ^ an. Atoms in rules can be of the form C(x), P(x,y), Q(x,z), sameAs(x,y), differentFrom(x,y), or builtIn(pred, z1, ..., zn), where C is an OWL description, P is an OWL individual-valued property, Q is an OWL data-valued property, pred is a datatype predicate URIref, x and y are either individual-valued variables or OWL individuals, and z, z1, ... zn are either data-valued variables or OWL data literals. An OWL data literal is either a typed literal or a plain literal. Variables are indicated by using the standard convention of prefixing the…

computer.internet_protocolProgramming languagebusiness.industryComputer science02 engineering and technologyOntology (information science)computer.software_genreSocial Semantic WebWorld Wide WebXQueryXML Schema (W3C)020204 information systems0202 electrical engineering electronic engineering information engineeringLiteral (computer programming)020201 artificial intelligence & image processingSemantic Web StackbusinesscomputerSemantic WebXPathcomputer.programming_language
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In the literature: April 2020

2020

Deficient DNA mismatch repair (dMMR) may be caused by germline or somatic mutations in mismatch repair genes ( MLH1 , MSH2 , MSH3 , MSH6 and PMS2 ) or through epigenetic silencing of MLH1 .1 dMMR induces a hypermutator phenotype, also known as microsatellite instability (MSI). Next-generation sequencing identifies MSI in 12 cancer types. The highest prevalence is seen in endometrial cancer (31.4%), followed by colorectal cancer (19.7%) and gastric cancer (GC, 19.1%). MSI was related to better prognosis for colorectal cancer and GC . Moreover, the dMMR/MSI hypermutator phenotype is thought to produce large numbers of immunogenic neoantigens that can be recognised by immune cells, leading to …

congenital hereditary and neonatal diseases and abnormalitiesCancer Researchbusiness.industryCancerMicrosatellite instabilityNewsmedicine.diseaseMLH1digestive system diseasesnot applicableMSH6OncologyMSH3MSH2medicineCancer researchPMS2DNA mismatch repair1506businessneoplasmsESMO Open
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