Search results for "INSIGHTS"

showing 10 items of 34 documents

Worldwide experience of homozygous familial hypercholesterolaemia:retrospective cohort study

2022

[Background]: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally.

AdultMaleHomozygous Familial HypercholesterolemiaAdolescentretrospective studyCHILDRENDoenças Cardio e Cérebro-vascularesCohort StudiesYoung AdultMedicine General & InternalGeneral & Internal MedicineCardiovascular DiseaseHumansRegistriesLIPOPROTEIN-APHERESISChild11 Medical and Health SciencesRetrospective StudiesHomozygous Familial Hypercholesterolaemia International Clinical CollaboratorsScience & TechnologyGUIDANCEclinical characteristicEVOLOCUMABHomozygous familial hypercholesterolemia; Worldwide; Therapies; Cardiovascular diseaseGeneral MedicineCARECardiovascular diseaseOPEN-LABELEFFICACYINSIGHTSTherapiesChild PreschooloutcomeFemalegeneticFamilial HypercholesterolaemiaLife Sciences & BiomedicineWorldwide
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Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Abstract Background Biological aging estimators derived from DNA methylation data are heritable and correlate with morbidity and mortality. Consequently, identification of genetic and environmental contributors to the variation in these measures in populations has become a major goal in the field. Results Leveraging DNA methylation and SNP data from more than 40,000 individuals, we identify 137 genome-wide significant loci, of which 113 are novel, from genome-wide association study (GWAS) meta-analyses of four epigenetic clocks and epigenetic surrogate markers for granulocyte proportions and plasminogen activator inhibitor 1 levels, respectively. We find evidence for shared genetic loci ass…

AgingMultifactorial InheritanceBLOODEpigenetic clock05 Environmental SciencesbiomarkkeritGenome-wide association studyQH426-470Epigenesis Genetic/dk/atira/pure/core/keywords/icep0302 clinical medicineBiomarkers of agingGWASBiology (General)AdiposityGenetics11832 Microbiology and virology0303 health sciences318 Medical biotechnologyDNA methylation1184 Genetics developmental biology physiologygenomiikkaDna Methylation ; Epigenetic Clock ; Gwasddc:DNA-metylaatioINSIGHTSC-Reactive ProteinepigenetiikkaDNA methylationMENDELIAN RANDOMIZATION/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingEducational StatusICEPGenetic MarkersPROVIDESSUSCEPTIBILITY LOCIBioinformaticsQH301-705.5GenomicsBiology03 medical and health sciencesNHLBI Trans-Omics for Precision Medicine (TOPMed) ConsortiumAGESDG 3 - Good Health and Well-beingPlasminogen Activator Inhibitor 1REGRESSIONGeneticsHumansEpigeneticsGeneMETAANALYSIS030304 developmental biologyGenome HumanResearchGenetics of DNA Methylation Consortium06 Biological SciencesLipid MetabolismHuman geneticsGenetic architectureImmunity InnateikääntyminenGenetic LociCpG Islands08 Information and Computing Sciences3111 BiomedicineENRICHMENTepigenetic clock030217 neurology & neurosurgeryBiomarkersGenome-Wide Association StudyGranulocytes
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Telia Crowd Insights -tietojen hyödyntäminen pandemiatietoisuuden parantamiseksi Keski-Suomessa

2021

Telia Crowd Insights -tietojen hyödyntäminen pandemiatietoisuuden parantamiseksi KeskiSuomessa on Keski-Suomen liiton rahoittama hanke, jolla pyritään selvittämään, että pystytäänkö ihmisten ja ihmisvirtojen liikkeitä seuraamalla saavuttamaan parempi tilannekuva pandemia tilanteessa. Hankkeen tarkoituksena on keskittyä erilaisiin liikenteenseurantaratkaisuihin sekä tutkia koronaviruksen aiheuttamia vaikutuksia maakunnassa tapahtuvaan liikenteeseen ja liikkumiseen. Keväällä 2020 tuli voimaan poikkeukselliset olosuhteet, joiden takia liikenne muuttui merkittävästi erilaisten rajoitusten ja yleisen varovaisuuden vuoksi. Tämä on yksi merkittävimmistä ilmiöistä, joita projektissa pyritään tutkim…

COVID-19matkaviestinverkotliikenneseurantaTelia Crowd Insightspandemiat
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A Thermophilic Tetramolecular G-Quadruplex/Hemin DNAzyme.

2017

International audience; The quadruplex-based DNAzyme system is one of the most useful artificial enzymes or catalysts; their unique properties make them reliable alternatives to proteins for performing catalytic transformation. The first prototype of a thermally stable DNAzyme system is presented. This thermophilic DNAzyme is capable of oxidizing substrates at high temperatures (up to 95 degrees C) and long reaction times (up to 18 h at 75 degrees C). The catalytic activity of the DNAzymes were investigated with the standard peroxidase-mimicking oxidation of 2,2'-azino-bis(3-ethylbenzothiozoline-6-sulfonic acid) (ABTS) by H2O2. The step-by-step design of this unique heat-activated G-quadrup…

Catalytic transformationDNAzymeoxidationDeoxyribozymeaptamersspecificityNanotechnologyBiocompatible MaterialsdnainsightsG-quadruplex010402 general chemistry[ CHIM ] Chemical Sciences01 natural sciencesperoxidase-mimicking dnazymesCatalysisCatalysischemistry.chemical_compoundOxidizing agent[CHIM]Chemical SciencesBenzothiazolesthermophilicityComputingMilieux_MISCELLANEOUSPeroxidaseChemistry010405 organic chemistryThermophileperoxidase activityGeneral Chemistry[CHIM.CATA]Chemical Sciences/CatalysisGeneral MedicineDNA CatalyticHydrogen PeroxideCombinatorial chemistry0104 chemical sciencesG-QuadruplexesMethylene BluekineticsHeminactivity enhancementSulfonic AcidsporphyrinOxidation-ReductioncomplexHeminAngewandte Chemie (International ed. in English)
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Structural highs formation and their relationship to sedimentary basins in the north Sicily continental margin (southern Tyrrhenian Sea): implication…

2005

Two high-penetration seismic profiles across the continental margin of north Sicily (southern Tyrrhenian Sea) have been interpreted to construct a crustal section across the margin and to provide a three-dimensional perspective on the upper crustal setting of the Solunto High and its structural relationships with the adjacent Cefalù Basin. Crystalline rocks of the Kabilian-Calabrian Units (KCU) are recognized in the Solunto High region and farther to the north. The KCU body is tectonically superimposed onto sedimentary rocks pertaining to the Sicilian-Maghrebian Units (SMU) and the Solunto High corresponds to the thrust sheet culmination. Its occurrence in the Solunto High demonstrates that…

Continental collisionBACK-ARC BASINSUBSIDENCELate MioceneNappe/dk/atira/pure/sustainabledevelopmentgoals/life_below_waterPaleontologyContinental marginSDG 14 - Life Below WaterKINEMATICSGeomorphologyEarth-Surface Processesgeographygeography.geographical_feature_categorySubductionAPENNINESCONSTRAINTSSedimentary basinEVOLUTIONLITHOSPHEREINSIGHTSGeophysicsBack-arc basinSedimentary rockGeologyHIGH-RESOLUTIONEXTENSION
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The 15 March 2007 explosive crisis at Stromboli Volcano, Italy: assessing physical parameters through a multidisciplinary approach

2011

Basaltic volcanoes are dominated by lava emission and mild explosive activity. Nevertheless, many basaltic systems exhibit, from time to time, poorly documented and little-understood violent explosions. A short-lived, multiblast explosive crisis (paroxysmal explosion) occurred on 15 March 2007 during an effusive eruptive crisis at Stromboli (Italy). The explosive crisis, which started at 20:38:14 UT, had a total duration of ∼5 min. The combined use of multiparametric data collected by the permanent instrumental networks (seismic, acoustic, and thermal records) and a field survey carried out immediately after the event enabled us to constrain the eruptive dynamics and quantify physical param…

DYNAMICSAtmospheric ScienceExplosive materialLavaPyroclastic flowSoil SciencePyroclastic rockAquatic ScienceOceanographyGeophysical monitoringEffusive eruptionImpact craterDEFORMATIONGeochemistry and Petrologyddc:550SR ISOTOPE EVIDENCE; EFFUSIVE ERUPTION; PAROXYSMAL EXPLOSION; PLUMBING SYSTEM; DYNAMICS; DEFORMATION; INSIGHTS; EVENT; TIME; CRYSTALLIZATIONEarth and Planetary Sciences (miscellaneous)StromboliParoxysmTephraEarth-Surface ProcessesWater Science and TechnologySR ISOTOPE EVIDENCEgeographygeography.geographical_feature_categoryEcologyTephra depositPLUMBING SYSTEMEFFUSIVE ERUPTIONPaleontologyForestryBallistic ejectionPAROXYSMAL EXPLOSIONVOLCANOLOGY INFRASOUND FALL-OUTTIMEINSIGHTSGeophysicsEVENTVolcanoSpace and Planetary ScienceCRYSTALLIZATIONScoriaGeologySeismology
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Comparative analysis of two paradigm bacteriophytochromes reveals opposite functionalities in two-component signaling

2021

Bacterial phytochrome photoreceptors usually belong to two-component signaling systems which transmit environmental stimuli to a response regulator through a histidine kinase domain. Phytochromes switch between red light-absorbing and far-red light-absorbing states. Despite exhibiting extensive structural responses during this transition, the model bacteriophytochrome from Deinococcus radiodurans (DrBphP) lacks detectable kinase activity. Here, we resolve this long-standing conundrum by comparatively analyzing the interactions and output activities of DrBphP and a bacteriophytochrome from Agrobacterium fabrum (Agp1). Whereas Agp1 acts as a conventional histidine kinase, we identify DrBphP a…

Histidine KinaseLightPROTEINSScienceAgrobacteriumHISTIDINE KINASESKinasesMolecular Dynamics SimulationPhotoreceptors MicrobialTRANSDUCTIONArticleCYANOBACTERIAL PHYTOCHROME CPH1ACTIVATIONBacterial ProteinsProtein DomainsCRYSTAL-STRUCTUREPHOSPHORYLATIONX-ray crystallographyBacterial structural biologyQREARRANGEMENTSphotoreceptorsAGROBACTERIUM-TUMEFACIENSPhosphoric Monoester HydrolasesINSIGHTSbacterial phytochromesEnzyme mechanismsbacteriaDeinococcus3111 BiomedicineSignal Transduction
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Lessons from the 2018-2019 European droughts : a collective need for unifying drought risk management

2022

Funding Information: This open-access publication was funded by the University of Freiburg. Funding Information: Financial support. The project is supported by the Wassernetzwerk Baden-Württemberg (Water Research Network of the State Baden-Württemberg), which is funded by the Ministerium für Wissenschaft, Forschung und Kunst Baden-Württemberg (Ministry of Science, Research and the Arts of the State Baden-Württemberg) (grant no. AZ. 7532.21/2.1.6) and Maa-ja vesitekniikan tuki ry foundation. Doris E. Wendt acknowledges her support as part of the NERC-funded Groundwater Drought Initiative (NE/R004994/1). Lucy J. Barker was supported by the Natural Environment Research Council (NE/R016429/1) a…

IMPACTSdrought ; risk ; management ; strategy ; stakeholders ; EuropeHidrologíamedia_common.quotation_subjectWATER-RESOURCESCIRCULATIONVulnerabilityEarth and Planetary Sciences(all)Oceanografi hydrologi och vattenresurserMETEOROLOGICAL DROUGHT/dk/atira/pure/sustainabledevelopmentgoals/clean_water_and_sanitationEVENTSOceanography Hydrology and Water ResourcesShort summary: Recent drought events caused enormous damage in Europe. We therefore questioned the existence and effect of current drought management strategies on the actual impacts and how drought is perceived by relevant stakeholders. Over 700 participants from 28 European countries provided insights into drought hazard and impact perception and current management strategies. The study concludes with an urgent need to collectively combat drought risk via a European macro-level drought governance approach.11. SustainabilityMeteorology & Atmospheric SciencesLife ScienceGeosciences MultidisciplinaryEnvironmental planningmedia_commonScience & TechnologyWIMEKCorporate governanceGeologyDirectiveHazard6. Clean waterWater Resources ManagementWater resourcesGeographyHarm13. Climate actionPhysical SciencesWater ResourcesGeneral Earth and Planetary SciencesWater Systems and Global ChangePsychological resilienceHydrologySDG 6 - Clean Water and SanitationDiversity (business)Natural Hazards and Earth System Sciences
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Closely Related Archaeal Haloarcula hispanica Icosahedral Viruses HHIV-2 and SH1 Have Nonhomologous Genes Encoding Host Recognition Functions

2012

Studies on viral capsid architectures and coat protein folds have revealed the evolutionary lineages of viruses branching to all three domains of life. A widespread group of icosahedral tailless viruses, the PRD1-adenovirus lineage, was the first to be established. A double -barrel fold for a single major capsid protein is characteristic of these viruses. Similar viruses carrying genes coding for two major capsid proteins with a more complex structure, such as Thermus phage P23-77 and haloarchaeal virus SH1, have been isolated. Here, we studied the host range, life cycle, biochemical composition, and genomic sequence of a new isolate, Haloarcula hispanica icosahedral virus 2 (HHIV-2), which…

INSIGHTSsidontavirusesNUCLEOTIDE-SEQUENCEGENOME SEQUENCEPROTEINHALOPHILIC ARCHAEONAQUATIC ENVIRONMENTSBACTERIOPHAGE PRD1VACCINIA VIRUSVIRAL EVOLUTION
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Pig domestication and human-mediated dispersal in western Eurasia revealed through ancient DNA and geometric morphometrics.

2013

Zooarcheological evidence suggests that pigs were domesticated in Southwest Asia ∼8,500 BC. They then spread across the Middle and Near East and westward into Europe alongside early agriculturalists. European pigs were either domesticated independently or more likely appeared so as a result of admixture between introduced pigs and European wild boar. As a result, European wild boar mtDNA lineages replaced Near Eastern/Anatolian mtDNA signatures in Europe and subsequently replaced indigenous domestic pig lineages in Anatolia. The specific details of these processes, however, remain unknown. To address questions related to early pig domestication, dispersal, and turnover in the Near East, we …

MESH: Sequence Analysis DNAsequence analysisSwineSus scrofa[SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropologyinsightsshapephylogeography01 natural sciences11. SustainabilityexpansionsMESH: AnimalswildNeolithicMESH: Swineagriculture0303 health sciencesKUL-METH-ArchaeologyMESH: AsiaPig domesticationmitochondrialEuropeDomestic pigMESH: PhylogeographyAnimals DomestichistoryMESH: Molareuropewild boar010506 paleontologyKUL-CoE-CASoriginsAsialikelihoodneolithic; phylogeography; pig domestication; wild boar; animal distribution; animals; animals domestic; Asia; DNA mitochondrial; Europe; humans; molar; phylogeography; sequence analysis DNA; Sus scrofa; SwineZoologypig domesticationfarmersBiologyNeolithic.Animal Breeding and GenomicsSettore BIO/08Wild boarDNA Mitochondrial03 medical and health sciencesWild boarBronze Agebiology.animalGeneticsdomesticAnimalsHumansFokkerij en GenomicaMESH: Animals DomesticDomesticationMolecular BiologyEcology Evolution Behavior and SystematicsDiscoveries030304 developmental biology0105 earth and related environmental sciencesMESH: Humans[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]MESH: Animal DistributionMESH: DNA MitochondrialDNASequence Analysis DNAMolarMESH: Sus scrofaAncient DNAIron AgeWIASBiological dispersalMESH: EuropeAnimal DistributionChronology
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