Search results for "expression profiling"

showing 10 items of 658 documents

Differential expression of specific microRNA and their targets in acute myeloid leukemia

2010

Acute myeloid leukemia (AML) the most common acute leukemia in adults is characterized by various cytogenetic and molecular abnormalities. However, the genetic etiology of the disease is not yet fully understood. MicroRNAs (miRNA) are small noncoding RNAs which regulate the expression of target mRNAs both at transcriptional and translational level. In recent years, miRNAs have been identified as a novel mechanism in gene regulation, which show variable expression during myeloid differentiation. We studied miRNA expression of leukemic blasts of 29 cases of newly diagnosed and genetically defined AML using quantitative reverse transcription polymerase chain reaction (RT-PCR) for 365 human miR…

AdultMaleNPM1Down-RegulationBiologySettore MED/15 - Malattie Del SangueYoung Adulthemic and lymphatic diseasesmicroRNAmedicineGene silencingHumansLeukemia microarray data microRNAGranulocyte Precursor CellsAgedCell ProliferationGeneticsRegulation of gene expressionAged 80 and overAcute leukemiaReverse Transcriptase Polymerase Chain ReactionGene Expression ProfilingCore Binding FactorsMyeloid leukemiaNuclear ProteinsCell DifferentiationHematologyMiddle Agedmedicine.diseaseUp-RegulationGene expression profilingGene Expression Regulation NeoplasticLeukemiaLeukemia Myeloid AcuteMicroRNAsfms-Like Tyrosine Kinase 3Case-Control StudiesMutationFemaleSettore SECS-S/01 - StatisticaNucleophosmin
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Variation in genomic landscape of clear cell renal cell carcinoma across Europe

2014

The incidence of renal cell carcinoma (RCC) is increasing worldwide, and its prevalence is particularly high in some parts of Central Europe. Here we undertake whole-genome and transcriptome sequencing of clear cell RCC (ccRCC), the most common form of the disease, in patients from four different European countries with contrasting disease incidence to explore the underlying genomic architecture of RCC. Our findings support previous reports on frequent aberrations in the epigenetic machinery and PI3K/mTOR signalling, and uncover novel pathways and genes affected by recurrent mutations and abnormal transcriptome patterns including focal adhesion, components of extracellular matrix (ECM) and …

AdultMaleOncogene Proteins FusionRNA SplicingGeneral Physics and AstronomyBiologymedicine.disease_causeGeneral Biochemistry Genetics and Molecular BiologyCohort StudiesTranscriptomePhosphatidylinositol 3-KinasesMutation RatemedicineHumansEpigeneticsCarcinoma Renal CellAgedAged 80 and overGeneticsFocal AdhesionsMutationMultidisciplinaryGenome HumanGene Expression ProfilingGenetic VariationGenomicsSequence Analysis DNAGeneral ChemistryMiddle Agedmedicine.diseaseHuman genetics3. Good healthEuropeGene Expression Regulation NeoplasticGene expression profilingClear cell renal cell carcinomaMutationFemaleCarcinogenesisClear cellSignal TransductionNature Communications
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Increased expression of IL-19 in the epithelium of patients with chronic rhinosinusitis and nasal polyps.

2012

Background : Chronic rhinosinusitis (CRS) is an inflammation of the nose and of the paranasal sinuses. The involvement of the respiratory epithelium in the mechanisms of CRS is poorly understood. Aims : Among proteins expressed by nasal epithelial cells in CRS, IL-19 may have key functions. We here aimed to determine the expression and regulation of IL-19. Methods : Nasal biopsies from normal subjects (n = 12), subjects with CRS but without nasal polyps (NP) (CRSsNP, n = 12) and with CRS with NP (CRSwNP, n = 15) were collected. Human Asthma Gene Array and real-time PCR were used to evaluate gene expression, western blot analysis and immunohistochemistry for protein expression. Results for I…

AdultMalePathologymedicine.medical_specialtyAdolescentImmunologyGene ExpressionMucous membrane of noseYoung AdultInterleukin 20Nasal Polypsotorhinolaryngologic diseasesImmunology and AllergyMedicineHumansNasal polypsRNA MessengerSinusitisSinusitisAsthma inflammation nasal polyps rhinitisRhinitisbusiness.industryGene Expression ProfilingInterleukinsEpithelial CellsMiddle Agedmedicine.diseaseEpitheliumGene expression profilingNasal Mucosamedicine.anatomical_structureParanasal sinusesKi-67 AntigenImmunologyChronic DiseaseRespiratory epitheliumFemalebusinessAllergy
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Identification of a gene-pathway associated with non-alcoholic steatohepatitis.

2007

Background/Aims We have integrated gene expression profiling of liver biopsies of NASH patients with liver samples of a mouse model of steatohepatitis (MAT1A-KO) to identify a gene-pathway associated with NASH. Methods Affymetrix U133 Plus 2.0 microarrays were used to evaluate nine patients with NASH, six patients with steatosis, and six control subjects; Affymetrix MOE430A microarrays were used to evaluate wild-type and MAT1A-KO mice at 15 days, 1, 3, 5 and 8 months after birth. Transcriptional profiles of patients with NASH and MAT1A-KO mice were compared with those of their proficient controls. Results We identified a gene-pathway associated with NASH, that accurately distinguishes betwe…

AdultMalePathologymedicine.medical_specialtySp1 Transcription FactorGene ExpressionHyperphosphorylationBiologyBioinformaticsdigestive systemSp1MiceGene-pathwayGene expressionmedicineAnimalsHumansPhosphorylationPromoter Regions GeneticGeneNon-alcoholic steatohepatitisMice KnockoutS-adenosylmethionineHepatologyMicroarray analysis techniquesGene Expression Profilingnutritional and metabolic diseasesMethionine AdenosyltransferaseMiddle AgedMicroarray Analysismedicine.diseasedigestive system diseasesFatty LiverGene expression profilingLiverFemaleSteatosisSteatohepatitisDNA microarray
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Different Genetic Expression Profiles of Oxidative Stress and Apoptosis-Related Genes in Crohn's Disease.

2018

<b><i>Background/Aims:</i></b> Increased oxidative stress and decreased immune cell apoptosis have been reported to be important factors in the pathogenesis of Crohn’s disease (CD). Our aim was to characterize the genetic expression of molecules implicated in the regulation of oxidative stress and apoptosis in peripheral white mononuclear cells of 18 healthy volunteers (controls) and 20 patients at the onset of CD (active CD [aCD]): 10 who achieved remission (inactive CD [iCD]) and 10 who did not present a complete and deep response to treatment (aCD-T). <b><i>Methods:</i></b> mRNA expression was measured by the Agena MassARRAY quantitative ge…

AdultMalePeptidylprolyl isomerase DDown-RegulationApoptosismedicine.disease_causeFas ligandPathogenesis03 medical and health sciencesYoung Adult0302 clinical medicineCrohn DiseaseGene expressionMedicineHumansASK1RNA Messengerbusiness.industryKinaseGene Expression ProfilingGastroenterologyCatalaseHealthy VolunteersUp-RegulationCrohn's diseaseOxidative StressApoptosisOxidative stress030220 oncology & carcinogenesisCase-Control StudiesCancer researchLeukocytes Mononuclear030211 gastroenterology & hepatologyFemalebusinessReactive oxygen speciesTranscriptomeOxidative stressBiomarkersDigestion
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Inter-individual variability of protein patterns in saliva of healthy adults

2009

International audience; In order to document inter-individual variability in salivary protein patterns, unstimulated whole saliva was obtained from 12 subjects at 10 am and 3 pm of the same day. Saliva proteins were separated using two-dimensional gel electrophoresis, and semi-quantified using image analysis. One-way ANOVA was used to test the effects “time of sampling” and “subject”. Data were further explored by multivariate analyses (PCA, hierarchical clustering). Spots of interest were identified by mass spectrometry (MALDI-TOF MS/MS and nanoLC ESI-IT MS/MS). A dataset of 509 spots matched in all gels was obtained. There was no diurnal statistical effect on salivary patterns while inter…

AdultMaleProteomicsSaliva[CHIM.ANAL] Chemical Sciences/Analytical chemistryProteomeBiophysicsBiochemistryMass SpectrometrySALIVA03 medical and health sciences0302 clinical medicineImmune system[CHIM.ANAL]Chemical Sciences/Analytical chemistry[SDV.BBM] Life Sciences [q-bio]/Biochemistry Molecular BiologyHumansElectrophoresis Gel Two-Dimensional[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyAmylaseSalivary Proteins and PeptidesprotéomeComputingMilieux_MISCELLANEOUS030304 developmental biologychemistry.chemical_classificationGel electrophoresisAnalysis of Variance0303 health sciencesbiologyGene Expression ProfilingBiodiversity030206 dentistryMiddle Aged[SDV.SP]Life Sciences [q-bio]/Pharmaceutical sciencesMolecular biology[SDV.SP] Life Sciences [q-bio]/Pharmaceutical sciencesEnzymechemistrySALIVARY PATTERNSTransferrinSpectrometry Mass Matrix-Assisted Laser Desorption-IonizationMultivariate AnalysisProteomebiology.proteinFemaleAnalysis of varianceSALIVA;SALIVARY PATTERNS;INTER-INDIVIDUAL VARIABILITYINTER-INDIVIDUAL VARIABILITY
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Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance

2010

Recent studies strongly support an association of the nicotinic acetylcholine receptor gene cluster CHRNA5-CHRNA3-CHRNB4 with nicotine dependence (ND). However, the precise genotype-phenotype relationship is still unknown. Clinical and epidemiological data on smoking behavior raise the possibility that the relevant gene variants may indirectly contribute to the development of ND by affecting cognitive performance in some smokers who consume nicotine for reasons of "cognition enhancement." Here, we tested seven single nucleotide polymorphisms (SNPs) rs684513, rs637137, rs16969968, rs578776, rs1051730, rs3743078, rs3813567 from the CHRNA5-CHRNA3-CHRNB4 gene cluster for association with ND, me…

AdultMaleRiskGenotypeGene ExpressionNerve Tissue ProteinsSingle-nucleotide polymorphismReceptors NicotinicBiologyBioinformaticsPolymorphism Single NucleotideNicotineCellular and Molecular NeuroscienceCognitionGene clustermedicineHumansGenetic Predisposition to DiseaseRNA MessengerRisk factorAlleleGenetic Association StudiesGenetics (clinical)AgedGeneticsChromosomes Human Pair 15Gene Expression ProfilingCHRNA5HaplotypeWechsler ScalesGenetic VariationCognitionTobacco Use DisorderMiddle AgedPsychiatry and Mental healthMultigene Familybiology.proteinFemalemedicine.drugAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics
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Investigation into mechanisms mediating the inhibitory effect of 1,4-benzodiazepines on mast cells by gene expression profiling.

2013

Abstract Aims This study aims to identify by a molecular genetic approach potential targets in mast cells at which 1,4-benzodiazepines may cause their inhibitory effect on mast cell activity. Main methods Gene expression analyses with microarray gene chip and/or quantitative PCR were performed using 1,4-benzodiazepine-treated human mast cell leukemia HMC-1.2 cells, promyelocytic leukemia HL-60 cells and human mast cells from healthy volunteers and patients with mast cell activation disease (MCAD). Pathway analysis was applied to search for enriched biological functions and canonical pathways within differentially regulated genes. Key findings Both neoplastic and normal human mast cells expr…

AdultMalegenetics [Mastocytosis]Gene ExpressionHL-60 CellsFlunitrazepamBiologyPolymerase Chain ReactionGeneral Biochemistry Genetics and Molecular BiologyClonazepamLYNddc:570medicineTranslocator proteinpharmacology [Flunitrazepam]HumansMast CellsGeneral Pharmacology Toxicology and Pharmaceuticsmethods [Polymerase Chain Reaction]Interleukin 5AgedRegulation of gene expressionBenzodiazepinonesGene Expression Profilingdrug effects [Gene Expression]General MedicineMiddle AgedMast cell leukemiamedicine.diseaseMast cellMicroarray Analysis4'-chlorodiazepamCell biologyInterleukin 33Gene expression profilingmedicine.anatomical_structuremethods [Microarray Analysis]biology.proteinpharmacology [Clonazepam]drug effects [Mast Cells]Femalepharmacology [Benzodiazepinones]Mastocytosismethods [Gene Expression Profiling]
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Adrenomedullin and arterial stiffness: integrative approach combining monocyte ADM expression, plasma MR-Pro-ADM, and genome-wide association study.

2014

Background— Adrenomedullin (ADM) is a circulating vasoactive peptide involved in vascular homeostasis and endothelial function. Single nucleotide polymorphisms of the ADM gene are associated with blood pressure variability, and elevated levels of plasma midregional proadrenomedullin (MR-pro-ADM) are associated with cardiovascular diseases. Methods and Results— We investigated the sources of variability of ADM gene expression and plasma MR-pro-ADM concentrations in the general population, and their relationship with markers of atherosclerosis. MR-pro-ADM levels were assessed in 4155 individuals who underwent evaluation of carotid intima-media thickness and arterial rigidity (reflection inde…

AdultMalemedicine.medical_specialtyGenotypeTranscription Geneticmedicine.drug_classPopulationGenome-wide association studySingle-nucleotide polymorphismBiologyCarotid Intima-Media ThicknessPolymorphism Single NucleotideMonocytesArticleCohort Studieschemistry.chemical_compoundAdrenomedullinVascular StiffnessInternal medicineGene expressionGeneticsmedicineNatriuretic peptideHumansProtein PrecursorseducationGenetics (clinical)AgedCreatinineeducation.field_of_studyGene Expression ProfilingGenetic VariationMiddle Agedmedicine.diseaseAtherosclerosisAdrenomedullinEndocrinologyCarotid ArterieschemistryGene Expression RegulationArterial stiffnessLinear ModelsFemaleCardiology and Cardiovascular MedicineTranscriptomeGenome-Wide Association StudyCirculation. Cardiovascular genetics
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Benign and Atypical Meningioma Metabolic Signatures by High-Resolution Magic-Angle Spinning Molecular Profiling

2008

Meningiomas are neoplasms that arise from the leptomeningeal covering of the brain and spinal cord, accounting for 15%-20% of CNS tumors. The WHO classifies meningiomas into three histological grades: benign, atypical, and anaplasic in accordance with the clinical prognosis. Atypical and anaplasic meningiomas tend to recur. Sometimes, meningiomas with histological diagnosis of benign meningioma show clinical characteristics of atypical meningioma. In this context, high-resolution magic-angle spinning (HR-MAS) spectroscopy of intact tissue from brain tumor biopsies has shown great potential as a support diagnostic tool. In this work, we show differences between benign and atypical meningioma…

AdultMalemedicine.medical_specialtyPathologyMagnetic Resonance SpectroscopyBrain tumorHigh resolutionBiologyMalignancyBiochemistryMeningiomaInternal medicineBiomarkers TumorMeningeal Neoplasmsotorhinolaryngologic diseasesmedicineHumansneoplasmsAgedAged 80 and overPrincipal Component AnalysisGene Expression ProfilingAtypical meningiomaGeneral ChemistryMiddle Agedmedicine.diseaseSpinal cordnervous system diseasesGene expression profilingEndocrinologymedicine.anatomical_structureBenign MeningiomaFemaleMeningiomaJournal of Proteome Research
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