Search results for " HOMO"

showing 10 items of 1143 documents

Somatic copy number alterations are associated with EGFR amplification and shortened survival in patients with primary glioblastoma.

2019

Glioblastoma (GBM) is the most common malignant primary tumor of the central nervous system. With no effective therapy, the prognosis for patients is terrible poor. It is highly heterogeneous and EGFR amplification is its most frequent molecular alteration. In this light, we aimed to examine the genetic heterogeneity of GBM and to correlate it with the clinical characteristics of the patients. For that purpose, we analyzed the status of EGFR and the somatic copy number alterations (CNAs) of a set of tumor suppressor genes and oncogenes. Thus, we found GBMs with high level of EGFR amplification, low level and with no EGFR amplification. Highly amplified tumors showed histological features of…

0301 basic medicineMaleCancer ResearchBiopsyL-amp GB EGFR-low amplified glioblastomamedicine.disease_causewt wildtypeMYBPC3 myosin-binding protein C0302 clinical medicineHIC1 hypermethylated in cancer 1Gene duplicationIn Situ Hybridization FluorescenceIDH2 isocitrate dehydrogenase 2MutationRB-pat RB signaling pathwayEGFRvIII epidermal growth factor receptor variant number IIIPAH phenylalanine hydroxylaseGBM glioblastoma IDH-wildtype (glioblastoma multiforme primary glioblastoma).ANOVA ANalysis Of VArianceN-amp GB EGFR-no amplified glioblastomaMiddle AgedCDKN2A cyclin-dependent kinase inhibitor 2Alcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPrognosisPrimary tumorImmunohistochemistryH-amp GB EGFR-high amplified glioblastomaErbB ReceptorsTKR-pat tyrosine-kinase receptors signaling pathway030220 oncology & carcinogenesisDisease ProgressionCDK6 cyclin-dependent kinase 6CDH1 Cadherin 1FemaleCREM cAMP response element modulatorIHC immunohistochemistryAdultOriginal articleDNA Copy Number VariationsCDKN1B cyclin-dependent kinase inhibitor 1BBiologyRARB retinoic acid receptor betaCNS central nervous systemlcsh:RC254-282IDH1 isocitrate dehydrogenase 1BCL2 B-cell cll/ lymphoma 2CNAs copy number algerationsWHO World Health Organization03 medical and health sciencesYoung Adultp53-pat p53 signaling pathwaymedicineBiomarkers TumorTMA tissue microarrayPTENHumansProtein kinase BPI3K/AKT/mTOR pathwaySurvival analysisAgedGenetic heterogeneityGene AmplificationGFAP glial fibrillary acidic proteinMLPA multiplex ligation-dependent probe amplificationmedicine.diseaseFISH fluorescence in situ hibridizationSurvival AnalysisCDKN2B cyclin-dependent kinase inhibitor 2BPTEN phosphatase and tensin homologEGFR epidermal growth factor receptorCNV-load load of copy number variations030104 developmental biologyMutationPARK2 parkinCancer researchbiology.proteinTCGA The Cancer Genome AtlasLARGE1 acetylglucosaminyltransferase-like protein 1GlioblastomaCHD7 Chromodomain Helicase DNA Binding Protein 7DAPI 4′6-diamidino-2-phenylindoleNeoplasia (New York, N.Y.)
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Incidence and risk factors for liver enzyme elevation among naive HIV-1-infected patients receiving ART in the ICONA cohort

2019

AbstractObjectivesTo evaluate the incidence and risk factors for liver enzyme elevations (LEE) in patients initiating first-line ART in the ICONA prospective observational cohort, between June 2009 and December 2017.Patients and methodsIn total, 6575 ART-naive patients were selected, initiating two NRTIs with the third drug being a boosted PI (n=2436; 37.0%), an NNRTI (n=2384; 36.3%) or an integrase strand transfer inhibitor (INSTI) (n=1755; 26.7%). HBV surface antigen and HCV RNA were detected in 3.9% and 5.8% of the study population. Inverse probability weighted Cox regression analysis was used to calculate the HRs, according to first-line regimen, for LEE, defined as ALT or AST increases…

0301 basic medicineMaleIntegrase inhibitorHepatitis B Surface AntigenHIV Infections0302 clinical medicineRisk Factorshivh epatitis c rna surface antigens follow-up homosexuality integrase inhibitors hepatitis b virus hepatitis b virus measurement hiv infections hepatotoxicity hepatitis c virus coinfection nucleoside reverse transcriptase inhibitors non-nucleoside reverse transcriptase inhibitors cox proportional hazards models baseline value liver enzyme raltegravirPharmacology (medical)HIV Infection030212 general & internal medicineProspective StudiesProspective cohort studyCoinfectionIncidence (epidemiology)Liver DiseaseIncidenceLiver Diseasesvirus diseasesHepatitis CMiddle AgedHepatitis CReverse Transcriptase InhibitorInfectious DiseasesCohortCoinfectionPopulation studyRegression AnalysisReverse Transcriptase InhibitorsFemalemedicine.drugHumanMicrobiology (medical)Adultmedicine.medical_specialtyAnti-HIV AgentsRegression AnalysiNO03 medical and health sciencesInternal medicinemedicineHumansHIV Integrase InhibitorsHIV Protease InhibitorPharmacologyHepatitis B Surface Antigensbusiness.industryAnti-HIV AgentHIV ARTHIV Protease Inhibitorsmedicine.diseaseRaltegravir030112 virologyHIV Integrase InhibitorProspective StudieHIV-1businessAdult Anti-HIV Agents Coinfection Female Hepatitis B Surface Antigens Hepatitis C HIV Infections HIV Integrase Inhibitors HIV Protease Inhibitors HIV-1 Humans Incidence Liver Diseases Male Middle Aged Prospective Studies Regression Analysis Reverse Transcriptase Inhibitors Risk Factors
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CAMKIIγ suppresses an efferocytosis pathway in macrophages and promotes atherosclerotic plaque necrosis

2017

Atherosclerosis is the underlying etiology of cardiovascular disease, the leading cause of death worldwide. Atherosclerosis is a heterogeneous disease in which only a small fraction of lesions lead to heart attack, stroke, or sudden cardiac death. A distinct type of plaque containing large necrotic cores with thin fibrous caps often precipitates these acute events. Here, we show that Ca2+/calmodulin-dependent protein kinase gamma (CaMKII gamma) in macrophages plays a major role in the development of necrotic, thin-capped plaques. Macrophages in necrotic and symptomatic atherosclerotic plaques in humans as well as advanced atherosclerotic lesions in mice demonstrated activation of CaMKII. We…

0301 basic medicineMalePathologymedicine.medical_specialtyPhagocytosisGene ExpressionInflammationApoptosisMice TransgenicBiologyPHAGOCYTOSISLIPID MEDIATORS03 medical and health sciencesNecrosisENDOPLASMIC-RETICULUM STRESSINFLAMMATIONCa2+/calmodulin-dependent protein kinaseC/EBP HOMOLOGOUS PROTEINmedicineMacrophageAnimalsHumansKINASE-IILiver X receptorEfferocytosisCells CulturedLiver X ReceptorsAPOE-DEFICIENT MICEc-Mer Tyrosine KinaseATF6MacrophagesAPOPTOTIC CELL ACCUMULATIONGeneral MedicineMERTKAtherosclerosisPlaque AtheroscleroticActivating Transcription Factor 6Enzyme ActivationMice Inbred C57BL030104 developmental biologyRESOLUTIONmedicine.symptomCalcium-Calmodulin-Dependent Protein Kinase Type 2LIVER-X-RECEPTORResearch ArticleSignal TransductionJournal of Clinical Investigation
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Circulation and diagnostics of Puumala virus in Norway: nephropatia epidemica incidence and rodent population dynamics.

2017

Hantaviruses pose a public health concern worldwide causing haemorrhagic fever with renal syndrome (HFRS) and hantavirus pulmonary syndrome (HPS). Puumala virus (PUUV) is the most prevalent hantavirus in Central and Northern Europe, and causes a mild form of HFRS, also known as nephropathia epidemica (NE). In nature, the main host of PUUV is the bank vole (Myodes glareolus), and transmission to humans occurs through inhalation of aerosols from rodent excreta. Nephropathia epidemica is particularly prevalent in Nordic countries, however, few studies of PUUV have been performed in Norway. The aim of this study was to analyse the dynamics of PUUV in Norway and compare with bank vole population…

0301 basic medicineMaleSerumRodentanimal diseasesvirusesPopulation DynamicsSequence HomologyPolymerase Chain ReactionPuumala virusImmunology and AllergyMedicineCluster AnalysisHaemorrhagic feverChildPhylogenyAged 80 and overeducation.field_of_studybiologyArvicolinaeNorwayIncidence (epidemiology)Incidencevirus diseasesGeneral MedicineMiddle AgedChild PreschoolHemorrhagic Fever with Renal SyndromePuumala virusFemaleTopography MedicalSeasonsMicrobiology (medical)Adultmedicine.medical_specialtyAdolescent030106 microbiologyPopulationHantavirus Pulmonary SyndromeReal-Time Polymerase Chain ReactionPathology and Forensic Medicine03 medical and health sciencesYoung Adultbiology.animalAnimalsHumanseducationAgedHantavirus pulmonary syndromebusiness.industryPublic healthInfant NewbornInfantSequence Analysis DNAbiology.organism_classificationVirologyrespiratory tract diseases030104 developmental biologybusinessAPMIS : acta pathologica, microbiologica, et immunologica Scandinavica
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Genome-wide diversity and runs of homozygosity in the “Braque Français, type Pyrénées” dog breed

2018

Objective Braque Français, type Pyrénées is a French hunting-dog breed whose origin is traced back to old pointing gun-dogs used to assist hunters in finding and retrieving game. This breed is popular in France, but seldom seen elsewhere. Despite the ancient background, the literature on its genetic characterization is surprisingly scarce. A recent study looked into the demography and inbreeding using pedigree records, but there is yet no report on the use of molecular markers in this breed. The aim of this work was to genotype a population of Braque Français, type Pyrénées dogs with the high-density SNP array to study the genomic diversity of the breed. Results The average observed (\docum…

0301 basic medicineMalelcsh:MedicineRuns of HomozygosityGenetic diversitySettore AGR/17 - Zootecnica Generale E Miglioramento Geneticotype PyrénéesSNPGenetic diversityMolecular markersInbreedingRuns of homozygosityHeterozygosityEffective population sizeDogInbreedingDogBraque Français type PyrénéesSNPGenetic diversityMolecular markersInbreedingRuns of homozygosityHeterozygositylcsh:QH301-705.5education.field_of_studyHeterozygosityGenomeHomozygote04 agricultural and veterinary sciencesGeneral Medicinetype PyrénéesBraque Français type PyrénéesBreedResearch NoteFemaleFranceInbreedingSNP arrayGenetic MarkersHeterozygotePopulationSNPBiologyRuns of homozygosityPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesDogsAnimalsGenetic variabilityeducationlcsh:Science (General)Genetic diversityDogBraque Françaislcsh:R0402 animal and dairy sciencebraque françaisMolecular markersGenetic Variation040201 dairy & animal science030104 developmental biologylcsh:Biology (General)Evolutionary biologyDog Braque Français type Pyrénées SNP Genetic diversity Molecular markers Inbreeding Runs of homozygosity Heterozygositylcsh:Q1-390BMC Research Notes
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Clinical effectiveness of influenza vaccination after allogeneic hematopoietic stem cell transplantation: A cross-sectional prospective observational…

2018

Abstract Background Vaccination is the primary method for preventing influenza respiratory virus infection (RVI). Although the influenza vaccine is able to achieve serological responses in some allogeneic hematopoietic stem cell transplantation (allo-HSCT) recipients, its clinical benefits are still uncertain. Methods In this prospective, cross-sectional study, we retrospectively analyzed the effect of inactivated trivalent influenza vaccination on the prevalence of influenza RVI in a consecutive cohort of 136 allo-HSCT adult recipients who developed 161 RVI over 5 flu seasons (from 2013 to 2018). Respiratory viruses in upper– and/or lower–respiratory tract specimens were tested using multi…

0301 basic medicineMalemedicine.medical_treatmentHematopoietic stem cell transplantationinfluenza virus0302 clinical medicineRisk FactorsOdds RatioMedicine030212 general & internal medicineProspective StudiesArticles and CommentariesImmunodeficiencybiologyVaccinationHematopoietic Stem Cell Transplantationvirus diseasesMiddle AgedVaccinationHospitalizationInfectious DiseasesTreatment OutcomeInfluenza VaccinesCohortFemaleMicrobiology (medical)Adultmedicine.medical_specialtyAdolescentInfluenza vaccine030106 microbiologyOrthomyxoviridae03 medical and health sciencesImmunocompromised HostYoung AdultInternal medicineInfluenza HumanHumansTransplantation Homologousallogeneic hematopoietic stem cell transplantationRisk factorAgedRetrospective Studiescommunity-acquired respiratory virusbusiness.industryOdds ratiomedicine.diseasebiology.organism_classificationCross-Sectional StudiesSpainbusinessimmunodeficiency score index
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Factors influencing cytomegalovirus DNA load measurements in whole blood and plasma specimens from allogeneic hematopoietic stem cell transplant reci…

2019

We assessed the impact of several parameters, including the nature of the episode of Cytomegalovirus (CMV) DNAemia, the use of preemptive antiviral therapy, and the blood cell content in CMV DNA loads measured in whole blood (WB) and plasma (PL). CMV DNA load was quantified in 245 paired specimens collected within 43 postengraftment episodes of CMV DNAemia by using the CMV RealTime CMV PCR (Abbott Molecular). Concordant categorical results were obtained for 78.4% of paired specimens (Kappa index, 0.385; P = 0.001). Overall, CMV DNA loads in PL were higher than those in WB (mean bias, +0.115 log IU/mL) in both initial and recurrent episodes; this was so in post-antiviral treatment but not in…

0301 basic medicineMicrobiology (medical)030106 microbiologyCongenital cytomegalovirus infectionCytomegalovirusCytomegalovirus DNABlood cell03 medical and health sciences0302 clinical medicineHumansTransplantation HomologousMedicine030212 general & internal medicineWhole bloodbusiness.industryHematopoietic Stem Cell TransplantationAntiviral therapyvirus diseasesGeneral MedicineViral Loadmedicine.diseaseTransplant RecipientsBloodInfectious DiseasesReal-time polymerase chain reactionmedicine.anatomical_structureCytomegalovirus InfectionsDNA ViralImmunologyAllogeneic hematopoietic stem cell transplantbusinessViral loadDiagnostic Microbiology and Infectious Disease
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Comparison of the artus Epstein-Barr virus (EBV) PCR kit and the Abbott RealTime EBV assay for measuring plasma EBV DNA loads in allogeneic stem cell…

2017

The ability of the artus Epstein-Barr virus (EBV) PCR kit and the Abbott RealTime EBV PCR assay to detect and quantify plasma EBV DNAemia was compared. The agreement between these assays was 95.8%. The EBV DNA loads measured by the two assays significantly correlated (P=< 0.0001).

0301 basic medicineMicrobiology (medical)AdultEpstein-Barr Virus InfectionsHerpesvirus 4 Human030106 microbiologyPcr assayBiologymedicine.disease_causeVirus03 medical and health sciencesPlasmahemic and lymphatic diseasesmedicineHumansTransplantation HomologousGeneral MedicineViral LoadEpstein–Barr virusVirologyTransplant Recipients030104 developmental biologyInfectious DiseasesReal-time polymerase chain reactionMolecular Diagnostic TechniquesDNA ViralStem cellStem Cell TransplantationDiagnostic microbiology and infectious disease
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Oncogenic Deregulation of EZH2 as an Opportunity for Targeted Therapy in Lung Cancer.

2016

Abstract As a master regulator of chromatin function, the lysine methyltransferase EZH2 orchestrates transcriptional silencing of developmental gene networks. Overexpression of EZH2 is commonly observed in human epithelial cancers, such as non–small cell lung carcinoma (NSCLC), yet definitive demonstration of malignant transformation by deregulated EZH2 remains elusive. Here, we demonstrate the causal role of EZH2 overexpression in NSCLC with new genetically engineered mouse models of lung adenocarcinoma. Deregulated EZH2 silences normal developmental pathways, leading to epigenetic transformation independent of canonical growth factor pathway activation. As such, tumors feature a transcrip…

0301 basic medicineModels MolecularLung Neoplasmsmedicine.medical_treatmentMolecular ConformationGene ExpressionAntineoplastic Agentsmacromolecular substancesBiologymedicine.disease_causeArticleMalignant transformationTargeted therapy03 medical and health sciencesMiceStructure-Activity RelationshipCell Line TumormedicineAnimalsHumansEnhancer of Zeste Homolog 2 ProteinMolecular Targeted TherapyLung cancerPromoter Regions GeneticGene Expression ProfilingEZH2Cancermedicine.diseaseMagnetic Resonance ImagingXenograft Model Antitumor AssaysChromatinrespiratory tract diseasesGene Expression Regulation NeoplasticDisease Models Animal030104 developmental biologyCell Transformation NeoplasticEnhancer Elements GeneticOncologyDrug DesignCancer researchAdenocarcinomaKRASEpigenetic therapyCancer discovery
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Evolving Notch polyQ tracts reveal possible solenoid interference elements.

2016

ABSTRACTPolyglutamine (polyQ) tracts in regulatory proteins are extremely polymorphic. As functional elements under selection for length, triplet repeats are prone to DNA replication slippage and indel mutations. Many polyQ tracts are also embedded within intrinsically disordered domains, which are less constrained, fast evolving, and difficult to characterize. To identify structural principles underlying polyQ tracts in disordered regulatory domains, here I analyze deep evolution of metazoan Notch polyQ tracts, which can generate alleles causing developmental and neurogenic defects. I show that Notch features polyQ tract turnover that is restricted to a discrete number of conserved “polyQ …

0301 basic medicineModels MolecularProtein Structure ComparisonProtein FoldingHuntingtinlcsh:MedicineCarboxamideAnkyrin Repeat DomainBiochemistryProtein Structure SecondaryDatabase and Informatics Methods0302 clinical medicineProtein structureMacromolecular Structure AnalysisDrosophila Proteinslcsh:ScienceGeneticsHuntingtin ProteinMultidisciplinaryReceptors NotchChemistryDrosophila MelanogasterAnimal ModelsCell biologyInsectsExperimental Organism SystemsProtein foldingDrosophilaSequence AnalysisResearch ArticleMultiple Alignment CalculationProtein StructureArthropodamedicine.drug_classBioinformaticsProtein domainSequence alignmentBiologyIntrinsically disordered proteinsResearch and Analysis MethodsTerminal loopEvolution Molecular03 medical and health sciencesModel OrganismsProtein DomainsSequence Motif AnalysisComputational TechniquesmedicineHuntingtin ProteinAnimalsIndelMolecular BiologyRepetitive Sequences Nucleic AcidModels GeneticSequence Homology Amino Acidlcsh:RDNA replicationOrganismsBiology and Life SciencesProteinsHydrogen BondingInvertebratesSplit-Decomposition MethodIntrinsically Disordered Proteins030104 developmental biologyAnkyrin repeatlcsh:QPeptidesSequence Alignment030217 neurology & neurosurgeryPLoS ONE
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