Search results for "Gene Expression"

showing 10 items of 4085 documents

A comprehensive untargeted metabonomic analysis of human steatotic liver tissue by RP and HILIC chromatography coupled to mass spectrometry reveals i…

2011

Steatosis, or excessive accumulation of lipids in the liver, is a generally accepted previous step to the development of more severe conditions like nonalcoholic steatohepatitis, fibrosis, and cirrhosis. We aimed, to characterize the metabolic profile that defines simple steatosis in human tissue and to identify potential disturbances in the hepatic metabolism that could favor the switch to progressive liver damage. A total of 46 samples, 23 from steatotic and 23 from nonsteatotic human livers, were analyzed following a holistic LC-MS-based metabonomic analysis that combines RP and HILIC chromatographic separations. Multivariate statistical data analysis satisfactorily classified samples an…

AdultMaleCirrhosismedicine.drug_classBiochemistryAntioxidantsMass SpectrometryBile Acids and SaltsFibrosismedicineHumansMetabolomicsPhospholipidsAgedChromatographyBile acidChemistryGene Expression ProfilingFatty liverLipid metabolismGeneral ChemistryMiddle Agedmedicine.diseaseLipid MetabolismMitochondriaGlutamineFatty LiverBiochemistryGene Expression RegulationLiverSolventsFemaleSteatosisDrug metabolismBiomarkersChromatography LiquidJournal of proteome research
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Flow cytometric analysis of glyoxalase-1 expression in human leukocytes.

2011

Altered glyoxalase-1 (GLO-1) activity and expression is associated with the development of late diabetic complications, malignancy and oxidative stress- and aging-related diseases. In the present study, we developed a flow cytometry method for GLO-1 detection in human leukocytes isolated from peripheral blood samples to investigate GLO-1 expression in leukocyte subsets from type 1 and 2 diabetes mellitus patients (n = 11) and healthy subjects (n = 8). The flow cytometry analysis of GLO-1 in leukocytes showed that expression index of GLO-1-positive cells was slightly increased in mononuclear leukocytes from diabetic patients. This result correlated with the increase in GLO-1 activity in the …

AdultMaleClinical BiochemistryType 2 diabetesBiochemistryGene Expression Regulation EnzymologicFlow cytometryPathogenesisYoung AdultGlycationDiabetes mellitusDiabetes MellitusMedicineHumansCells CulturedWhole bloodAgedmedicine.diagnostic_testbusiness.industryExpression indexLactoylglutathione LyaseCell BiologyGeneral MedicineMiddle Agedmedicine.diseaseFlow CytometryCase-Control StudiesImmunologyLeukocytes MononuclearFemalebusinessGlyoxalase systemCell biochemistry and function
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New pattern of EGFR amplification in glioblastoma and the relationship of gene copy number with gene expression profile

2010

Gene amplification is a process that is characterized by an increase in the copy number of a restricted region in a chromosome arm, and is frequently associated with an overexpression of the corresponding amplified gene. Amplified DNA can be organized either as extrachromosomal elements, repeated units at a single locus or scattered throughout the genome. The amplification of the gene for epidermal growth factor receptor (EGFR) is a common finding in glioblastomas and the amplified gene copies appears as double minutes. The aim of this study was to investigate the different patterns of EGFR amplification in 40 cases of glioblastoma using FISH analysis in metaphases and paraffin sections, an…

AdultMaleGene DosageBiologyPolymerase Chain ReactionPolymorphism Single NucleotideGene dosagePathology and Forensic MedicineYoung AdultGene expressionGene duplicationTumor Cells CulturedHumansDouble minuteRNA MessengerCopy-number variationGeneIn Situ Hybridization FluorescenceAgedOligonucleotide Array Sequence AnalysisChromosome 7 (human)Regulation of gene expressionBrain NeoplasmsGene Expression ProfilingGene AmplificationMiddle AgedImmunohistochemistryMolecular biologyErbB ReceptorsGene Expression Regulation NeoplasticMutagenesis InsertionalFemaleGlioblastomaChromosomes Human Pair 7Modern Pathology
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Cytochrome P450 regulation by hepatocyte nuclear factor 4 in human hepatocytes: A study using adenovirus-mediated antisense targeting

2001

Abstract Hepatocyte nuclear factor 4 (HNF4) is a member of the nuclear receptor super-family that has shown activating effects on particular cytochrome P450 (CYP) promoters from several species. However, its role in the regulation of human CYPs in the liver is still poorly understood, as no comprehensive studies in human-relevant models have been performed. In the present study, we have investigated whether HNF4 plays a general role in the expression of 7 major CYP genes in primary cultured human hepatocytes. To this end, we developed an adenoviral vector for efficient expression of HNF4 antisense RNA. Transduction of human hepatocytes with the recombinant adenovirus resulted in a time-depe…

AdultMaleGene ExpressionBiologymedicine.disease_causeAdenoviridaeCytochrome P-450 Enzyme SystemGene expressionmedicineHumansRNA MessengerTranscription factorCells CulturedAgedMessenger RNAExpression vectorHepatologyBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsMiddle AgedOligonucleotides AntisensePhosphoproteinsMolecular biologyAntisense RNADNA-Binding Proteinsbody regionsAdenoviridaeHepatocyte Nuclear Factor 4LiverHepatocyte nuclear factor 4Nuclear receptorGene TargetingHepatocytesRNAFemaleTranscription FactorsHepatology
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Reduced oxytocin receptor gene expression and binding sites in different brain regions in schizophrenia: A post-mortem study

2016

Schizophrenia is a severe neuropsychiatric disorder with impairments in social cognition. Several brain regions have been implicated in social cognition, including the nucleus caudatus, prefrontal and temporal cortex, and cerebellum. Oxytocin is a critical modulator of social cognition and the formation and maintenance of social relationships and was shown to improve symptoms and social cognition in schizophrenia patients. However, it is unknown whether the oxytocin receptor is altered in the brain. Therefore, we used qRT-PCR and Ornithine Vasotocin Analog ([125I]OVTA)-based receptor autoradiography to investigate oxytocin receptor expression at both the mRNA and protein level in the left p…

AdultMaleGene ExpressionVasotocinReal-Time Polymerase Chain ReactionLeft nucleusRats Sprague-Dawley03 medical and health scienceschemistry.chemical_compound0302 clinical medicinemedicineHaloperidolAnimalsHumansRNA MessengerClozapineBiological PsychiatryClozapineAgedAged 80 and overTemporal cortexBinding SitesBrainMiddle Agedmedicine.diseaseOxytocin receptor030227 psychiatryPsychiatry and Mental healthchemistryOxytocinReceptors OxytocinSchizophreniaSchizophreniaAutoradiographyHaloperidolFemalePsychologyNeurosciencehormones hormone substitutes and hormone antagonists030217 neurology & neurosurgeryAntipsychotic Agentsmedicine.drugSchizophrenia Research
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Temporal lobe grey matter volume in schizophrenia is associated with a genetic polymorphism influencing glycogen synthase kinase 3-beta activity

2010

At the crossroad of multiple pathways regulating trophism and metabolism, glycogen synthase kinase (GSK)3 is considered a key factor in influencing the susceptibility of neurons to harmful stimuli (neuronal resilience) and is a target for several psychiatric drugs that directly inhibit it or increase its inhibitory phosphorylation. Inhibition of GSK3 prevents apoptosis and could protect against the neuropathological processes associated with psychiatric disorders. A GSK3-beta promoter single-nucleotide polymorphism (rs334558) influences transcriptional strength, and the less active form was associated with less detrimental clinical features of mood disorders. Here we studied the effect of r…

AdultMaleGenotypeApoptosisNeuropathologyBiologyGrey matterGene Expression Regulation EnzymologicTemporal lobe03 medical and health sciencesBehavioral NeuroscienceSuperior temporal gyrusGlycogen Synthase Kinase 30302 clinical medicineGSK-3GeneticsmedicineHumansGenetic Predisposition to DiseasePromoter Regions GeneticGSK3B030304 developmental biology0303 health sciencesGlycogen Synthase Kinase 3 betaPolymorphism GeneticGenetic VariationBrodmann area 21medicine.diseaseTemporal LobeEnzyme Activationmedicine.anatomical_structureNeurologySchizophreniaChronic DiseaseNerve DegenerationSchizophreniaFemaleAtrophyNeuroscience030217 neurology & neurosurgeryGenes, Brain and Behavior
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Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia

2013

Increased systemic levels of myeloperoxidase (MPO) are associated with the risk of coronary artery disease (CAD). To identify the genetic factors that are associated with circulating MPO levels, we carried out a genome-wide association study (GWAS) and a gene-centric analysis in subjects of European ancestry and African Americans (AAs). A locus on chromosome 1q31.1 containing the complement factor H (CFH) gene was strongly associated with serum MPO levels in 9305 subjects of European ancestry (lead SNP rs800292; P = 4.89 × 10(-41)) and in 1690 AA subjects (rs505102; P = 1.05 × 10(-8)). Gene-centric analyses in 8335 subjects of European ancestry additionally identified two rare M…

AdultMaleGenotypeLocus (genetics)Single-nucleotide polymorphismGenome-wide association studyCoronary Artery Disease030204 cardiovascular system & hematologyBiologyPolymorphism Single NucleotideGene Expression Regulation EnzymologicWhite PeopleYoung Adult03 medical and health sciences0302 clinical medicineGenotypeGeneticsHumansSNPMolecular BiologyGenetic Association StudiesGenetics (clinical)AgedPeroxidase030304 developmental biology0303 health sciencesAssociation Studies ArticlesCase-control studyGenetic VariationGeneral MedicineMiddle Aged3. Good healthBlack or African AmericanCase-Control StudiesComplement Factor HFactor HMyeloperoxidaseImmunologybiology.proteinFemaleGenome-Wide Association StudyHuman Molecular Genetics
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Variability in human hepatic MRP4 expression: influence of cholestasis and genotype

2007

The multidrug resistance protein 4 (MRP4) is an efflux transporter involved in the transport of endogenous substrates and xenobiotics. We measured MRP4 mRNA and protein expression in human livers and found a 38- and 45-fold variability, respectively. We sequenced 2 kb of the 5'-flanking region, all exons and intron/exon boundaries of the MRP4 gene in 95 patients and identified 74 genetic variants including 10 non-synonymous variations, seven of them being located in highly conserved regions. None of the detected polymorphisms was significantly associated with changes in the MRP4 mRNA or protein expression. Immunofluorescence microscopy indicated that none of the non-synonymous variations af…

AdultMaleGenotypeProtein ConformationBiologyPolymorphism Single NucleotideExonCholestasisTerminology as TopicGenotypeGenetic variationGeneticsmedicineHumansRNA MessengerGeneCellular localizationPharmacologyMessenger RNACholestasisPolymorphism GeneticReverse Transcriptase Polymerase Chain ReactionIntronGenetic VariationDNAmedicine.diseaseImmunohistochemistryMolecular biologyIntronsGene Expression RegulationHaplotypesLiverMicroscopy FluorescenceMolecular MedicineFemaleMultidrug Resistance-Associated ProteinsThe Pharmacogenomics Journal
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Endogenous levels of mRNA for IFNs and IFN-related genes in hepatic biopsies of chronic HCV-infected and non-alcoholic steatohepatitis patients.

2003

To investigate the intra-hepatic activation of the IFN system in patients affected by chronic HCV-infection in comparison with that observed in a non-infectious liver disease such as non-alcoholic steatohepatitis, we measured the liver steady state mRNA levels of interferon-alpha, interferon-beta and interferon-gamma as well as of IFN-related genes (IFNAR-1, STAT1alpha, PKR, 2-5 AS, IRF-1, ICE and IL-18). In HCV-infected subjects, possible correlations of these parameters with viral load and liver injury were also analyzed. Twenty-four chronic untreated HCV-infected subjects and seven patients with non-alcoholic steatohepatitis were enrolled in the study. Liver biopsies were graded accordin…

AdultMaleHepatitis C virusmedicine.medical_treatmentBiopsyHepacivirusReceptor Interferon alpha-betaBiologymedicine.disease_causeVirus ReplicationLiver diseaseVirologyGene expressionmedicineHumansRNA MessengerAgedReceptors InterferonLiver injuryLiver DiseasesInterleukin-18Membrane ProteinsHepatitis CHepatitis C ChronicMiddle Agedmedicine.diseasePhosphoproteinsVirologyDNA-Binding ProteinsInfectious DiseasesCytokineSTAT1 Transcription FactorLiverTrans-ActivatorsFemaleInterferonsSteatohepatitisViral loadInterferon Regulatory Factor-1Journal of medical virology
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Sequential transcriptome analysis of human liver cancer indicates late stage acquisition of malignant traits

2014

Background & Aims Human hepatocarcinogenesis is as a multi-step process starting from dysplastic lesions to early carcinomas (eHCC) that ultimately progress to HCC (pHCC). However, the sequential molecular alterations driving malignant transformation of the pre-neoplastic lesions are not clearly defined. This lack of information represents a major challenge in the clinical management of patients at risk. Methods We applied next-generation transcriptome sequencing to tumor-free surrounding liver (n=7), low- (n=4) and high-grade (n=9) dysplastic lesions, eHCC (n=5) and pHCC (n=3) from 8 HCC patients with hepatitis B infection. Integrative analyses of genetic and transcriptomic changes were pe…

AdultMaleHepatocarcinogenesisCarcinoma HepatocellularCarcinogenesisBiologyBioinformaticsmedicine.disease_causePolymorphism Single NucleotideArticleMalignant transformationTranscriptomeCarcinomamedicineTumor MicroenvironmentHumansMolecular pathogenesisRNA NeoplasmGeneAgedTumor microenvironmentHepatologyGene Expression ProfilingLiver NeoplasmsWnt signaling pathwayRNA sequencingMiddle Agedmedicine.diseaseGene expression profilingCell Transformation NeoplasticMutationCancer researchDisease ProgressionFemaleCarcinogenesis
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