Search results for " VAR"

showing 10 items of 5758 documents

Reanalysis of Chinese Treponema pallidum samples: all Chinese samples cluster with SS14-like group of syphilis-causing treponemes

2018

[Objective]: Treponema pallidum subsp. pallidum (TPA) is the causative agent of syphilis. Genetic analyses of TPA reference strains and human clinical isolates have revealed two genetically distinct groups of syphilis-causing treponemes, called Nichols-like and SS14-like groups. So far, no genetic intermediates, i.e. strains containing a mixed pattern of Nichols-like and SS14-like genomic sequences, have been identifed. Recently, Sun et al. (Oncotarget 2016. https://doi. org/10.18632/oncotarget.10154) described a new “phylogenetic group” (called Lineage 2) among Chinese TPA strains. This lineage exhibited a “mosaic genomic structure” of Nichols-like and SS14-like lineages.

0301 basic medicineChinaLineage (genetic)Sequencing datalcsh:MedicineGenome sequencingPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyDNA sequencing03 medical and health sciencesmedicineHumansTreponema pallidumSyphilislcsh:Science (General)lcsh:QH301-705.5GenePhylogenyGeneticsTreponemaPhylogenetic analysisbiologyPhylogenetic treeintegumentary systemlcsh:RGeneral MedicineSequence Analysis DNAbiology.organism_classificationmedicine.disease3. Good healthSingle nucleotide variantResearch Note030104 developmental biologylcsh:Biology (General)SyphilisMixed patternGenome Bacteriallcsh:Q1-390BMC Research Notes
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Improving risk assessments in conservation ecology

2019

Conservation efforts and management decisions on the living environment of our planet often rely on the results from statistical models. Yet, these models are imperfect and quantification of risk associated with the estimate of management-relevant quantities becomes crucial in providing robust advice. Here we demonstrate that estimates of risk themselves could be substantially biased but by combining data fitting with an extensive simulation–estimation procedure, one can back-calculate the correct values. We apply the method to 627 time series of population abundance across four taxa using the Gompertz state-space model as an example. We find that the risk of large bias in population status…

0301 basic medicineConservation of Natural ResourcesComputer scienceLiving environmentScienceGompertz functionPopulation DynamicsGeneral Physics and Astronomy02 engineering and technologyRisk AssessmentGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesEconometricsAnimalsHumanslcsh:ScienceEcological modellingPopulation DensityMultidisciplinaryModels StatisticalEcologyConservation biologyQStatistical modelGeneral ChemistryVDP::Matematikk og Naturvitenskap: 400Biodiversity021001 nanoscience & nanotechnologyPopulation abundancePopulation variabilityEnvironmental sciences030104 developmental biologyDensity dependencelcsh:QConservation ecology0210 nano-technologyRisk assessmentNature Communications
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Glyphosate dose modulates the uptake of inorganic phosphate by freshwater cyanobacteria

2017

The usefulness of glyphosate [N-(phosphonomethyl)glycine] as a source of nutritive phosphorus for species of halophilic cyanobacteria has been postulated for years. Our results indicate a stimulating effect of glyphosate on the growth of four out of five examined freshwater species, Anabaena variabilis (CCALA 007), Chroococcus minutus (CCALA 055), Fischerella cf. maior (CCALA 067) and Nostoc cf. muscorum (CCALA 129), in a manner dependent on the applied concentration. The most significant stimulation was observed at a dose of 0.1 mM glyphosate. The decrease in the amount of phosphonate, which correlated with microbial growth, demonstrated that glyphosate may play an important role in cyanob…

0301 basic medicineCyanobacteriaNostocphosphorus bindingchemistry.chemical_elementPlant Science010501 environmental sciencesAquatic Science01 natural sciencesAlgal bloomcyanobacteriaArticle03 medical and health scienceschemistry.chemical_compoundglyphosateBotany0105 earth and related environmental sciencesbiologyPhosphorusbiology.organism_classificationPhosphatePhosphonate030104 developmental biologychemistryGlyphosatephosphonatephosphorus uptakeAnabaena variabilisJournal of Applied Phycology
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Biodegradation of the aminopolyphosphonate DTPMP by the cyanobacteriumAnabaena variabilisproceeds via a C-P lyase-independent pathway

2017

Cyanobacteria, the only prokaryotes capable of oxygenic photosynthesis, play a major role in carbon, nitrogen and phosphorus global cycling. Under conditions of increased P availability and nutrient loading, some cyanobacteria are capable of blooming, rapidly multiplying and possibly altering the ecological structure of the ecosystem. Because of their ability of using non-conventional P sources, these microalgae can be used for bioremediation purposes. Under this perspective, the metabolization of the polyphosphonate diethylenetriaminepenta(methylenephosphonic) acid (DTPMP) by the strain CCALA 007 of Anabaena variabilis was investigated using 31 P NMR analysis. Results showed a quantitative…

0301 basic medicineCyanobacteriabiologyAnabaena030106 microbiologyBiodegradationbiology.organism_classificationLyasePhotosynthesisMicrobiologyPhosphonateDTPMP03 medical and health scienceschemistry.chemical_compound030104 developmental biologychemistryBiochemistryEcology Evolution Behavior and SystematicsAnabaena variabilisEnvironmental Microbiology
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Genetic association study of childhood aggression across raters, instruments, and age

2021

AbstractChildhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three sign…

0301 basic medicineDISORDER/45/43Genome-wide association study3124 Neurology and psychiatry0302 clinical medicineChildPsychiatry0303 health sciences:trastornos mentales [PSIQUIATRÍA Y PSICOLOGÍA]HERITABILITYMental DisordersCognitionGenomicsExplained variationJustice and Strong InstitutionsAggressionPsychiatry and Mental healthMeta-analysisADOLESCENCEChild Preschool:conducta y mecanismos de la conducta::conducta::síntomas conductuales::agresión [PSIQUIATRÍA Y PSICOLOGÍA]/631/208/212/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleBiological psychiatrymedicine.symptomLife Sciences & Biomedicine:Investigative Techniques::Genetic Techniques::Genetic Association Studies [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT]BEHAVIORRC321-571Childhood aggressionClinical psychologySDG 16 - PeaceAdolescent:Mental Disorders [PSYCHIATRY AND PSYCHOLOGY]Neurosciences. Biological psychiatry. NeuropsychiatrySingle-nucleotide polymorphismBiology3121 Internal medicineMalalties mentals - Aspectes genèticsGenetic correlationArticle1117 Public Health and Health ServicesCellular and Molecular Neuroscience03 medical and health sciences/631/477/2811SDG 3 - Good Health and Well-beingHuman behaviourmedicineSNPHumansGENOME-WIDE ASSOCIATIONBiological PsychiatryGenetic Association Studies030304 developmental biologyGenetic associationRetrospective Studies:técnicas de investigación::técnicas genéticas::estudios de asociación genética [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS]Science & TechnologyAggressionSDG 16 - Peace Justice and Strong InstitutionsInfant:Behavior and Behavior Mechanisms::Behavior::Behavioral Symptoms::Aggression [PSYCHIATRY AND PSYCHOLOGY]1103 Clinical SciencesAgressivitat en els infantsHeritability/dk/atira/pure/sustainabledevelopmentgoals/peace_justice_and_strong_institutions030104 developmental biology1701 PsychologyORIGINSResearch Programm of Donders Centre for Neuroscience3111 BiomedicineTRAJECTORIES030217 neurology & neurosurgeryDemographyGenome-Wide Association Study
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Easy One-Step Amplification and Labeling Procedure for Copy Number Variation Detection.

2019

Abstract Background The specific characteristics of copy number variations (CNVs) require specific methods of detection and characterization. We developed the Easy One-Step Amplification and Labeling procedure for CNV detection (EOSAL-CNV), a new method based on proportional amplification and labeling of amplicons in 1 PCR. Methods We used tailed primers for specific amplification and a pair of labeling probes (only 1 labeled) for amplification and labeling of all amplicons in just 1 reaction. Products were loaded directly onto a capillary DNA sequencer for fragment sizing and quantification. Data obtained could be analyzed by Microsoft Excel spreadsheet or EOSAL-CNV analysis software. We d…

0301 basic medicineDNA Copy Number VariationsClinical BiochemistryComputational biologyPolymerase Chain Reaction03 medical and health sciences0302 clinical medicineHumansMultiplexMultiplex ligation-dependent probe amplificationCopy-number variationIn Situ Hybridization FluorescenceFluorescent DyesChemistryBiochemistry (medical)Sequence Analysis DNAAmpliconChromosome 17 (human)MSH6DNA sequencer030104 developmental biologyReceptors LDLMSH2030220 oncology & carcinogenesisDNA ProbesMultiplex Polymerase Chain ReactionClinical chemistry
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Molecular surveillance of norovirus, 2005–16 : an epidemiological analysis of data collected from the NoroNet network

2018

BACKGROUND: The development of a vaccine for norovirus requires a detailed understanding of global genetic diversity of noroviruses. We analysed their epidemiology and diversity using surveillance data from the NoroNet network.METHODS: We included genetic sequences of norovirus specimens obtained from outbreak investigations and sporadic gastroenteritis cases between 2005 and 2016 in Europe, Asia, Oceania, and Africa. We genotyped norovirus sequences and analysed sequences that overlapped at open reading frame (ORF) 1 and ORF2. Additionally, we assessed the sampling date and country of origin of the first reported sequence to assess when and where novel drift variants originated.FINDINGS: W…

0301 basic medicineDatabases FactualvirusesVARIANTSmedicine.disease_causeDisease OutbreaksEMERGENCEfluids and secretions[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseasesEpidemiologyGenotypeTOOLmedia_commonCaliciviridae InfectionsMolecular Epidemiologyvirus diseasesrespiratory system3. Good healthGastroenteritis[ SDV.MHEP.MI ] Life Sciences [q-bio]/Human health and pathology/Infectious diseasesInfectious DiseasesGeography[SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/VirologyRNA Viral[ SDV.MHEP.HEG ] Life Sciences [q-bio]/Human health and pathology/Hépatology and GastroenterologyOUTBREAKSmedicine.medical_specialtyEUROPEGenotypeTRANSMISSIONVIRUSES[ SDV.MP.VIR ] Life Sciences [q-bio]/Microbiology and Parasitology/Virology03 medical and health sciencesSDG 3 - Good Health and Well-beingGenetic driftEnvironmental healthmedicinemedia_common.cataloged_instanceHumansEuropean unionRetrospective StudiesGenetic diversityMolecular epidemiologyNorovirusOutbreakGenetic Variation[SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and GastroenterologyADULTSdigestive system diseasesEVOLUTION030104 developmental biology3121 General medicine internal medicine and other clinical medicineNorovirushuman activities
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Contribution of allelic imbalance to colorectal cancer

2018

Point mutations in cancer have been extensively studied but chromosomal gains and losses have been more challenging to interpret due to their unspecific nature. Here we examine high-resolution allelic imbalance (AI) landscape in 1699 colorectal cancers, 256 of which have been whole-genome sequenced (WGSed). The imbalances pinpoint 38 genes as plausible AI targets based on previous knowledge. Unbiased CRISPR-Cas9 knockout and activation screens identified in total 79 genes within AI peaks regulating cell growth. Genetic and functional data implicate loss of TP53 as a sufficient driver of AI. The WGS highlights an influence of copy number aberrations on the rate of detected somatic point muta…

0301 basic medicineDenmarkLoss of HeterozygosityGeneral Physics and AstronomyAllelic ImbalanceLoss of heterozygosityGenotypeddc:576.5RNA Small Interferinglcsh:ScienceRNA Small Interfering/geneticsGeneticsMultidisciplinaryQGenomicsPhenotype3. Good healthGENOMEPhenotypesyöpägeenitAllelic ImbalanceTumor Suppressor Protein p53/geneticsColorectal NeoplasmsChromosomes Human Pair 8GENESDNA Copy Number VariationsGenotypeScienceTranscription Factors/geneticsGenomicscolorectal cancerBiologyArticleGeneral Biochemistry Genetics and Molecular BiologyProto-Oncogene Proteins p21(ras)Proto-Oncogene Proteins p21(ras)/genetics03 medical and health sciencesmedicineHumansPoint MutationGenetic Predisposition to DiseaseGenepaksusuolisyöpäChromosome AberrationsWhole Genome SequencingHUMAN-COLONGene Expression ProfilingPoint mutationCancerGeneral Chemistrymedicine.diseaseColorectal Neoplasms/geneticsENHANCERS030104 developmental biologyCELLSlcsh:Q3111 BiomedicineTumor Suppressor Protein p53CRISPR-Cas SystemsmutaatiotTranscription FactorsMicrosatellite Repeats
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Longitudinal Investigation into Genetics in the Conservation of Metabolic Phenotypes in Danish and Chinese Twins

2016

Longitudinal twin studies on long term conservation of individual metabolic phenotypes can help to explore the genetic and environmental basis in maintaining metabolic homeostasis and metabolic health. We performed a longitudinal twin study on 12 metabolic phenotypes from Danish twins followed up for 12 years and Chinese twins traced for 7 years. The study covered a relatively large sample of 502 pairs of Danish adult twins with a mean age at intake of 38 years and a total of 181 Chinese adult twin pairs with a mean baseline age of 39.5 years. Bivariate twin models were fitted to the longitudinal measurements taken at two time points (at baseline and follow-up) to estimate the genetic and e…

0301 basic medicineDenmarkTwinslcsh:MedicineGene ExpressionBlood PressureVascular MedicineBiochemistryCorrelation0302 clinical medicineGlucose MetabolismMedicine and Health SciencesEthnicitiesLongitudinal Studieslcsh:Sciencemetabolic phenotypes phenotype stability Danish Chinese twin modelsGeneticsMultidisciplinaryCovarianceDanesPhenotypePhenotypesPhenotypePhysical ScienceslanguageCarbohydrate MetabolismEnvironmental regulationResearch ArticleAdultChina030209 endocrinology & metabolismBivariate analysisBiologyDanish03 medical and health sciencesGeneticsHumansGene RegulationMetabolic healthlcsh:RBiology and Life SciencesRandom VariablesProbability TheoryTwin studylanguage.human_languageMetabolism030104 developmental biologyBlood pressurePeople and Placeslcsh:QPopulation GroupingsMathematicsDevelopmental BiologyPLOS ONE
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Epidemiological and Genetic Characterization of Sapovirus in Patients with Acute Gastroenteritis in Valencia (Spain)

2021

Sapovirus is a common cause of acute gastroenteritis in all age groups. Sapovirus infections are seldom investigated in Spain, and its epidemiology in the country is not well known. The use of molecular diagnostic procedures has allowed a more frequent detection of sapoviruses in patients with diarrhea. A total of 2545 stool samples from patients with acute gastroenteritis attended from June 2018 to February 2020 at the Clinic University Hospital in Valencia, Spain, were analyzed by reverse transcription (RT) and real-time multiplex PCR (RT-PCR) to investigate the etiology of enteric infections. Sapovirus was the second enteric virus detected with a positive rate of 8%, behind norovirus (12…

0301 basic medicineDiarrheaMalemedicine.medical_specialtyGenotypeviruses030106 microbiologylcsh:QR1-502real-time multiplex PCRmedicine.disease_causelcsh:MicrobiologyArticleAstrovirus03 medical and health sciencesgenotypesVirologyRotavirusGenotypeEpidemiologymedicinePrevalenceHumansacute gastroenteritisGenotypingPhylogenyCaliciviridae InfectionsMolecular Epidemiologybiologybusiness.industryCoinfectionAge FactorsGenetic VariationSapovirusbiology.organism_classificationVirologyGastroenteritissapovirusDiarrhea030104 developmental biologyInfectious DiseasesSpainNorovirusRNA ViralFemaleSeasonsmedicine.symptombusinessMultiplex Polymerase Chain ReactionViruses
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