Search results for "variations"

showing 10 items of 129 documents

Genomic instability in an interspecific hybrid of the genus Saccharomyces: a matter of adaptability

2020

Ancient events of polyploidy have been linked to huge evolutionary leaps in the tree of life, while increasing evidence shows that newly established polyploids have adaptive advantages in certain stress conditions compared to their relatives with a lower ploidy. The genus Saccharomyces is a good model for studying such events, as it contains an ancient whole-genome duplication event and many sequenced Saccharomyces cerevisiae are, evolutionary speaking, newly formed polyploids. Many polyploids have unstable genomes and go through large genome erosions; however, it is still unknown what mechanisms govern this reduction. Here, we sequenced and studied the natural S. cerevisiae × Saccharomyces…

Genome instabilityNuclear geneDNA Copy Number VariationsPopulationGene DosageHybridsWineGenome instabilityadaptationSaccharomyces cerevisiaeBiologyGenomeGenomic InstabilityPolyploidy03 medical and health sciencesSaccharomycesCopy-number variationAdaptationeducation030304 developmental biologyhybridsresequencing0303 health scienceseducation.field_of_study030306 microbiologyChimeraGeneral MedicineGenomicsSequence Analysis DNAbiology.organism_classificationgenome instabilityEvolutionary biologyEpistasisPloidyMicrobial evolution and epidemiology: Mechanisms of evolutionSaccharomyces kudriavzeviiGenome FungalSaccharomyces kudriavzeviiResequencingResearch ArticleMicrobial Genomics
researchProduct

Spatiotemporal Variations in the Abundance and Structure of Denitrifier Communities in Sediments Differing in Nitrate Content

2017

Spatial and temporal variations related to hydric seasonality in abundance and diversity of denitrifier communities were examined in sediments taken from two sites differing in nitrate concentration along a stream Do&ntilde

Geologic SedimentsNitrite ReductasesDenitrification[SDV]Life Sciences [q-bio]Rhodocyclaceae010501 environmental sciencesNitrate01 natural sciencesVariationsSedimentschemistry.chemical_compoundSpatio-Temporal AnalysisBacterial ProteinsNitrateAbundanceDenitrifierAbundance (ecology)[SDV.BV]Life Sciences [q-bio]/Vegetal BiologyBradyrhizobiaceaeRelative species abundancePhylogenySoil Microbiology0105 earth and related environmental sciencesNitratesbiologyEcologyCommunitiesCommunity structureSedimentStructureBiodiversity04 agricultural and veterinary sciencesGeneral Medicine15. Life on landspatio-temporal; variations; abundance; structure; denitrifier; communities; sediments; differing; nitrate; contentbiology.organism_classificationDifferingBradyrhizobiaceaeContentHydric soilchemistrySpatio-Temporal[SDE]Environmental SciencesDenitrification040103 agronomy & agriculture0401 agriculture forestry and fisherieshuman activitiesCurrent Issues in Molecular Biology; Volume 24; Issue 1; Pages: 71-102
researchProduct

Effect of hypoosmotic stress by low salinity acclimation of Mediterranean mussels Mytilus galloprovincialis on biological parameters used for polluti…

2008

In the present study, we investigated the progressive acclimation of the mussel Mytilus galloprovincialis to different reduced seawater (SW) salinities and its effect on several biochemical markers and biotests. Mussels were purchased from a local mariculture facility during summer (SW temperature 27 degrees C, salinity 37.5 psu) and winter (13 degrees C, 37 psu) seasons, and transferred to the laboratory for acclimation to reduced SW salinities (37, 28, 18.5 and 11 psu). At the beginning and at the end of acclimation processes tests of mussel survival in air were provided. After 14 days of acclimation the DNA integrity, p38-MAPK activation, metallothionein induction, oxygen consumption rat…

GillGillsSalinityanimal structuresHealth Toxicology and MutagenesisMuscle ProteinsAquatic ScienceAcclimatizationp38 Mitogen-Activated Protein KinasesCondition indexAnimal scienceOxygen ConsumptionOsmotic PressureAnimalsMaricultureFluorometrySeawaterPhosphorylationMytilusPrincipal Component AnalysisbiologyEcologyfungiMusselMytilus galloprovincialis; biomarkers; salinity; temperature; environmental condition variations; hypoosmotic stressbiology.organism_classificationBivalviaMytilusSalinityElectrophoresis Polyacrylamide GelMetallothioneinSeasonsDNA DamageEnvironmental Monitoring
researchProduct

On the lookout for the infinite variations of chaos : approaching the work of Rodrigo Fresán

2014

The aim of this thesis is to examine and interpret the sophisticated composition of Rodrigo Fresán’s “house of books” or “intertextual series”. Our research will demonstrate that the nine books of the Argentinean writer, in spite of their different generic classifications and their significant thematic diversity, form a coherent whole and they cannot be therefore analyzed separately. The continuity, the logic and, most importantly, the systematic nature of this literary project, that unites all the books of the author in an original and fractal intertextual series “in progress”, will be showed. Considering the fact that this work is characterized by a generic hybridity and a tension between…

Hybridité génériqueStructure narrativeIntegrated storiesIntertextualitéAutofabulationVariations[SHS.LANGUE] Humanities and Social Sciences/LinguisticsNarrative structureNouvelles intégrées[SHS.LITT] Humanities and Social Sciences/LiteratureArgentinean literatureGeneric hybridityMetafictionLittérature argentineIntertextualityMétafiction
researchProduct

Occurrence of currently used pesticides in ambient air of Centre Region (France)

2010

Ambient air samples were collected, from 2006 to 2008 at three rural and two urban sites in Centre Region (France) and analyzed for 56 currently used pesticides (CUPS), of which 41 were detected. The four CUPs most frequently detected were the herbicides trifluralin, acetochlor and pendimethalin and the fungicide chlorothalonil, which were found with frequencies ranging between 52 and 78%, and with average concentrations of 1.93, 1.32, 1.84 and 12.15 ng m(-3), respectively. Among the detected pesticides, concentrations of eight fungicides (spiroxamine, fenpropimorph, cyprodinil, tolyfluanid, epoxiconazole, vinchlozolin, fluazinam, fludioxinil), two insecticides (propargite, ethoprophos), an…

HydrologyAtmospheric ScienceFenpropimorphChlorothalonilAirTrifluralinPesticidePropargiteTemporal variationsToxicologychemistry.chemical_compoundPendimethalinOccurrencechemistryEnvironmental scienceEpoxiconazolePesticidesFluazinamGeneral Environmental ScienceAtmospheric Environment
researchProduct

Identification of New Genetic Clusters in Glioblastoma Multiforme: EGFR Status and ADD3 Losses Influence Prognosis

2020

Glioblastoma multiforme (GB) is one of the most aggressive tumors. Despite continuous efforts to improve its clinical management, there is still no strategy to avoid a rapid and fatal outcome. EGFR amplification is the most characteristic alteration of these tumors. Although effective therapy against it has not yet been found in GB, it may be central to classifying patients. We investigated somatic-copy number alterations (SCNA) by multiplex ligation-dependent probe amplification in a series of 137 GB, together with the detection of EGFRvIII and FISH analysis for EGFR amplification. Publicly available data from 604 patients were used as a validation cohort. We found statistical associations…

IDHMaleOncologymedicine.medical_specialtyDNA Copy Number VariationsEGFRSCNAsurvivalArticleText miningCDKN2AInternal medicineHumansMedicineMultiplexlcsh:QH301-705.5<i>IDH</i>Brain Neoplasmsbusiness.industryGene AmplificationglioblastomaGeneral MedicineMiddle AgedADD3Prognosismedicine.diseaseSurvival AnalysisErbB ReceptorsMSH6high throughout techniqueslcsh:Biology (General)ADD3Multigene FamilyCalmodulin-Binding ProteinsFemaleprecisionIdentification (biology)businessSignal TransductionGlioblastomaCells
researchProduct

Variant Arterial Supply of the Descending Colon by the Coeliac Trunk: A Case Report

2021

Background and Objectives: Knowledge of arterial variations of the intestines is of great importance in visceral surgery and interventional radiology. Materials and Methods: An unusual variation in the blood supply of the descending colon was observed in a Caucasian female body donor. Results: In this case, the left colic artery that regularly derives from the inferior mesenteric artery supplying the descending colon was instead a branch of the common hepatic artery. Conclusions: Here, we describe the very rare case of an aberrant left colic artery arising from the common hepatic artery in a dissection study.

Left colic arteryaberrant left colic arterymedicine.medical_specialtyMedicine (General)left colic arteryCase ReportDissection (medical)Inferior mesenteric arteryDescending colonR5-920common hepatic arterymedicine.arteryInternal medicinemedicineMesenteric arteriesmesenteric arteriesmedicine.diagnostic_testCommon hepatic arterybusiness.industryarterial variationsInterventional radiologyGeneral Medicinemedicine.diseasedigestive system diseasesmedicine.anatomical_structureCardiologyCoeliac trunklarge intestinesbusinessMedicina
researchProduct

The differential diagnoses of uterine leiomyomas and leiomyosarcomas using DNA and RNA sequencing.

2019

BACKGROUND: Although uterine leiomyomas and leiomyosarcomas are considered biologically unrelated tumors, they share morphologic and histologic characteristics that complicate their differential diagnosis. The long-term therapeutic option for leiomyoma is laparoscopic myomectomy with morcellation, particularly for patients who wish to preserve their fertility. However, because of the potential dissemination of undiagnosed or hidden leiomyosarcoma from morcellation, there is a need to develop a preoperative assessment of malignancy risk. OBJECTIVE: Through an integrated comparative genomic and transcriptomic analysis, we aim to identify differential genetic targets in leiomyomas vs leiomyosa…

LeiomyosarcomaAdultLeiomyosarcomaDNA Copy Number Variationsmedicine.disease_causeMalignancyPolymorphism Single NucleotideDNA sequencinggenomic/transcriptomic profileuterine leiomyosarcomaDiagnosis Differential03 medical and health sciences0302 clinical medicineGene DuplicationmedicineHumans030212 general & internal medicineCopy-number variationGeneAgedMutation030219 obstetrics & reproductive medicineuterine leiomyomaLeiomyomabusiness.industrySequence Analysis RNAGene Expression ProfilingObstetrics and GynecologyHigh-Throughput Nucleotide SequencingGenomicsSequence Analysis DNAMiddle Agedmedicine.diseaseBRCA2body regionsLeiomyomaUterine NeoplasmsCancer researchFGFR4FemaleDifferential diagnosisGene FusionbusinessROS1DNA/RNA sequencingGene DeletionAmerican journal of obstetrics and gynecology
researchProduct

Imbalance between genomic gain and loss identifies high-risk neuroblastoma patients with worse outcomes

2021

Survival in high-risk neuroblastoma (HR-NB) patients remains poor despite multimodal treatment. We aimed to identify HR-NB patients with worse outcomes by analyzing the genomic instability derived from segmental chromosomal aberrations. We calculated 3 genomic instability indexes for primary tumor SNP array profiles from 127 HR-NB patients: (1) Copy number aberration burden (%gainslength+%losseslength), (2) copy number load (CNL) (%gainslength-%losseslength) and (3) net genomic load (NGL) (%gainsamount-%lossesamount). Tumors were classified according to positive or negative CNL and NGL genomic subtypes. The impact of the genomic instability indexes on overall survival (OS) was assessed with…

Male0301 basic medicineGenome instabilityOncologyCancer ResearchCopy number loadSNPa single nucleotide polymorphism arrayNeuroblastoma0302 clinical medicineHigh risk neuroblastomaSegmental chromosomal aberrationsHR high-riskCNA copy number aberrationTumor biologyCNL copy number loaddNGL decreased net genomic loadlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPrognosisPrimary tumornCNL negative copy number loadGI genomic instabilityHomogeneous030220 oncology & carcinogenesisMNA MYCN-amplificationFemaleHR-NB high-risk neuroblastomaNB neuroblastomaSNP arrayOriginal articlemedicine.medical_specialtyDNA Copy Number VariationsiNGL increased net genomic loadpCNL positive copy number loadhetMNA heterogeneous MYCN-amplificationlcsh:RC254-282Polymorphism Single NucleotideGenomic InstabilityUHR ultra-high-riskOS overall survivalNet genomic load03 medical and health sciencesSCA segmental chromosomal aberrationInternal medicineNeuroblastomamedicineHumansNGL net genomic loadGenetic Predisposition to DiseaseGenomic imbalanceGenetic Association StudiesEFS event-free survivalProportional Hazards ModelsChromosome AberrationsPloidieshomMNA homogeneous MYCN-amplificationProportional hazards modelbusiness.industryGene AmplificationGenetic Variationmedicine.diseasePatient Outcome AssessmentCopy number aberration burden030104 developmental biologybusinessNeoplasia
researchProduct

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly

2021

International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence-level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss-of-function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 m…

Male0301 basic medicineHeterozygoteMicrocephalyAdolescentDNA Copy Number VariationsLanguage delay[SDV]Life Sciences [q-bio]KaryotypeInheritance Patternschemical and pharmacologic phenomena030105 genetics & heredityBiologydysmorphic featuresloss of function mutation03 medical and health sciencesExome SequencingIntellectual disabilityGeneticsmedicineHumansGenetic Predisposition to DiseaseHMGB1 ProteinChildGeneGenetic Association StudiesIn Situ Hybridization FluorescenceGenetics (clinical)Loss functionGeneticsHMGB1FaciesExonsdevelopmental disabilitiesMicrodeletion syndromemedicine.diseasePhenotypePhenotype030104 developmental biologyChild PreschoolMicrocephalyFemaleHaploinsufficiency
researchProduct