Search results for "WES"

showing 10 items of 1585 documents

Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis

2006

Familial haemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disorder characterised by constitutive defects in cellular cytotoxicity resulting in fever, hepatosplenomegaly and cytopenia, and the outcome is fatal unless treated by chemoimmunotherapy followed by haematopoietic stem‐cell transplantation. Since 1999, mutations in the perforin gene giving rise to this disease have been identified; however, these account only for 40% of cases. Lack of a genetic marker hampers the diagnosis, suitability for transplantation, selection of familial donors, identification of carriers, genetic counselling and prenatal diagnosis. Mutations in the Munc13–4 gene have recently been des…

EXPRESSIONMalePRF1AdolescentFHLBlotting WesternDNA Mutational AnalysisHepatosplenomegalyDONORSPrenatal diagnosisBiologymedicine.disease_causeLymphohistiocytosis HemophagocyticGeneticsmedicinePERFORIN GENE-MUTATIONSHumansUNC13DChildGenetics (clinical)Family HealthSPECTRUMHemophagocytic lymphohistiocytosisMutationCytopeniaMicroscopy ConfocalIDENTIFICATIONGenetic heterogeneityInfant NewbornCYTOTOXIC T-LYMPHOCYTESInfantMembrane Proteinsmedicine.diseaseBONE-MARROW-TRANSPLANTATIONTransplantationMicroscopy ElectronChild PreschoolMutationImmunologyFemalemedicine.symptomLetter to JMGT-Lymphocytes CytotoxicJournal of Medical Genetics
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West Nile virus in Spain: Forecasting the geographical distribution of risky areas with an ecological niche modelling approach.

2021

West Nile virus (WNV), a well-known emerging vector-borne arbovirus with a zoonotic life cycle, represents a threat to both public and animal health. Transmitted by ornithophilic mosquitoes, its transmission is difficult to predict and even more difficult to prevent. The massive and unprecedented number of human cases and equid outbreaks in Spain during 2020 interpellates for new approaches. For the first time, we present an integrate analysis from a niche perspective to provide an insight to the situation of West Nile disease (WND) in Spain. Our modelling approach benefits from the combined use of global occurrence records of outbreaks of WND in equids and of its two alleged main vectors i…

Ecological nicheGeneral VeterinaryGeneral Immunology and MicrobiologybiologyEcologyNicheOutbreakGeneral MedicineMosquito Vectorsbiology.organism_classificationMediterranean Basinlaw.inventionCulexTransmission (mechanics)GeographylawAbundance (ecology)SpainVector (epidemiology)Culex pipiensAnimalsHumansWest Nile virusEcosystemWest Nile FeverTransboundary and emerging diseasesREFERENCES
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Will the invasive western conifer seed bug Leptoglossus occidentalis Heidemann (Hemiptera: Heteroptera: Coreidae) seize all of Europe?

2008

In our day, thanks to high-speed transport systems, people are moving living species (intentionally or not) across ecosystems and countless borders. As we know, most introduced species usually do not survive, because they find neither a tolerable environment nor an available ecological niche. Sometimes, successful establishment may also require multiple introductions (Balcom 2004).

Ecological nichebiologyCoreidaeEcologyHeteropteraIntroduced speciesBiodiversityLeptoglossusbiology.organism_classificationWestern conifer seed bugHemipteraAnimal Science and ZoologyEcosystemEcology Evolution Behavior and SystematicsTaxonomy
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Paleodiversity of the Superfamily Ursoidea (Carnivora, Mammalia) in the Spanish Neogene, related to environmental changes

2014

In the present study we analyse the diversity of the Superfamily Ursoidea during the Neogene of the Iberian Peninsula to further compare it with that of the Neogene of Western Europe to find the different associations of this group. The results indicate that both the diversity and the taxonomy amongst these two regions show important variations, thus letting their interpretation in terms of climatic differentiation. We might relate variations in the abundance of the Ursoidea to the environmental fluctuations taking place during the Miocene and Pliocene. Therefore, they could enable us to reach the assessment of these biogeographical distributions in order to deduce the preferential niches o…

Ecological nichegeographygeography.geographical_feature_categoryEcologyPeninsulaStratigraphyWestern europeGeologyTaxonomy (biology)SUPERFAMILYNeogeneGeologyJournal of Iberian Geology
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Nutrient element and carbohydrate status of Norway spruce at Mt. Kleiner Feldberg in Taunus exposed to air pollution and soil acidification

1988

EcologyEcologySoil acidificationAir pollutionForestryNutritional statusPicea abiesBiologyCarbohydratemedicine.disease_causebiology.organism_classificationWest germanyNutrientEnvironmental chemistrymedicineForest Pathology
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An unidentified harvestman Leiobunum sp. alarmingly invading Europe (Arachnida: Opiliones)

2007

Etwa seit dem Jahr 2000 breitet sich eine bisher nicht identifizierte Art der Gattung Leiobunum C. L. Koch, 1839 schnell in Mitteleuropa aus. Nachweise ab dem Jahr 2004 sind aus den Niederlanden (wahrscheinlich dem Land des ersten Auftretens in Europa), Deutschland, Österreich und der Schweiz bekannt. Die wahrscheinlich eingeschleppte Art besiedelt bisher lediglich Wände von Gebäuden und seltener felsähnliche Biotope in Wäldern. Adulte Individuen ruhen tagsüber selten einzeln oder in eng geklumpten Gruppen aus Dutzenden bis Hunderten von Individuen an leicht abgedunkelten Stellen in Mauerwinkeln, an glatten Hauswänden und überhängenden Dachtraufen. Jungtiere leben am Boden. Diese Art verfüg…

EcologyPhenologyaggregationIntroduced speciesalien speciesOpilionesBiologybiology.organism_classificationbehaviourintroduced speciestaxonomyHabitatddc:590GenusInsect ScienceWestern europelcsh:Zoologyinvasion strategiescentral Europelcsh:QL1-991LeiobunumEcology Evolution Behavior and SystematicsArachnologische Mitteilungen
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First Record of the Genus Acanthixalus Laurent, 1944 from the Upper Guinean Rain Forest, West Africa, with the Description of a New Species

2003

Abstract We describe a new species of Acanthixalus from southwestern Ivory Coast. Acanthixalus sonjae sp. nov. differs from the Central African Acanthixalus spinosus genetically by 4.6 % in the investigated 16S rRNA. Morphologically adult frogs are very similar to A. spinosus. Male A. sonjae have wider heads and probably smaller gular glands than A. spinosus. Tadpoles of A. sonjae differ by much longer tails. Acanthixalus sonjae males are apparently mute. The new species is semiaquatic and lives in large water-filled cavities of trees in secondary and primary rain forest. Tadpoles complete metamorphosis in three months. They are at least partly carnivorous.

Ecologymedia_common.quotation_subjectRainforestBiologybiology.organism_classificationWest africaAcanthixalus spinosusGenusAcanthixalus sonjaeAnimal Science and ZoologyMetamorphosisAcanthixalusEcology Evolution Behavior and Systematicsmedia_commonJournal of Herpetology
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Overcoming the crisis : the changing profile and trajectories of Latvian migrants

2016

The work was funded by the National Research Programme [grant number 5.2.4] and the Latvian Council of Sciences [grant number 514/2012]. Taking mobility between Latvia and Western Europe as an empirical lens, this analysis explores the complex relationship between spatial disparities in earning potential and migration. The very dramatic shifts in the economic and political context against which migration from Latvia has occurred over the period 2004-2012 make it an especially apposite focus of research investigating the link between mobility and labour market circumstances. As an analytical starting point, conventional economic theory broadly explains the movement of workers from lower to h…

Economic crisismedia_common.quotation_subject0507 social and economic geographyWageNDASContext (language use)GF Human ecology. AnthropogeographyEmigrationPoliticsHH Social SciencesArts and Humanities (miscellaneous)050602 political science & public administrationEconomicsLabour migrationDemographymedia_common05 social sciencesLatvianSDG 10 - Reduced InequalitiesLatviaGFlanguage.human_language0506 political scienceEmigrationEffects of the Great RecessionWestern europelanguageOnline surveyDemographic economics050703 geographyDemography
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Finnish vocational education and training in comparison: Strengths and weaknesses

2014

International journal for research in vocational education and training 1 (2014) 2, S. 81-106

Economic growthEmployment PotentialEconomicsDenmarkGroßbritannienBerufs- und Wirtschaftspädagogikuniversity level of education370 Erziehung Schul- und BildungswesenSociology & anthropology20100training opportunitiesGermanyinitial vocational education and trainingRegional scienceEconomicsparticipationUniversity admissionta516ArbeitsmarktchanceEmployabilityLabor Market ResearchequalityHochschulbildungFinlandNorwegenLabor market prospectOccupational Research Occupational SociologyComparative study; educational trends; initial vocational education and training; level of employmentlabor market policylcsh:LC8-6691social inequalityNorwayParticipation in educationWirtschaftvocational educationDänemarkParticipation RateWelfare stateparticipation in educationuniversity admissionBerufsbildungErstausbildungInitial trainingVocational educationBildungs- und ErziehungssoziologieHochschulzugang370 Educationddc:301BeschäftigungsfähigkeitBildungschanceSociology of Educationlcsh:Educationaccess to higher educationHigher educationErziehung Schul- und BildungswesenArbeitsmarktEmployabilitysoziale UngleichheitEducationeducational opportunityddc:370ddc:330employabilityBerufsforschung BerufssoziologieDeutschlandAusbildungschancenVocational EducationSwedenVergleichsuntersuchunglcsh:Special aspects of educationArbeitsmarktforschungbusiness.industryGleichheitUnited KingdomArbeitsmarktpolitikeducational trendsFinnlandSociology of EducationinclusionSoziologie Anthropologieta5141level of employmentlabor marketComparative studyComparative educationAccess to Higher Educationlcsh:LbusinessBildungsbeteiligungInklusionStrengths and weaknessesSchwedenInternational Journal for Research in Vocational Education and Training
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Twenty Years of Basic Vocational Education Provision in Spain: Changes and Trends

2015

International journal for research in vocational education and training 2 (2015) 2, S. 137-151

Economic growthTourismusBerufs- und Wirtschaftspädagogik370 Erziehung Schul- und Bildungswesen20100Ausbildungsförderunginitial vocational education and trainingTourismusindustrieBildung und ErziehungRemedial educationLocationmedia_commonlcsh:LC8-6691traininggovernment promotion of vocational trainingBeschäftigungsförderungMultimethodologyAusbildungvocational educationemployment promotionVocational Training Adult Educationeducational policyBerufsbildungVocational educationBildungsangebothistory370 Educationpolicylcsh:Educationmixed methodsErziehung Schul- und Bildungswesenmedia_common.quotation_subjectPolitischer EinflussEducationBildungswesen quartärer Bereich Berufsbildungvocational training systemddc:370Political scienceBildungsentwicklungddc:330School-to-work transitionSpaniencompetence developmentVergleichende ErziehungswissenschaftBildungspolitikeducational offeringslcsh:Special aspects of educationMacroanalysis of the Education System Economics of Education Educational PolicyEducational attainmentMakroebene des Bildungswesenseducation systemBerufsausbildungBildungswesenSpainBerufliche Fachbildungschool-to-work transitionUnemploymentEmpirische ForschungAusbildungssystemBerufliche Erstausbildunglcsh:LTourismInternational Journal for Research in Vocational Education and Training
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