Search results for "microarray."

showing 10 items of 384 documents

Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia

2014

Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP array (SNP-A) 6.0 (Affymetrix) in 48 patients diagnosed with APL on matched diagnosis and remission sample. Forty-six abnormalities were found as an acquired event in 23 patients (48%): 22 duplications, 23 deletions and 1 Copy-Neutral Loss of Heterozygocity (CN-LOH), being a duplication of 8(q24) (23%) and a deletion of 7(q33-qter) (…

AdultMaleAcute promyelocytic leukemiamedicine.medical_specialtyAdolescentOncogene Proteins FusionMicroarrayslcsh:MedicineLoss of HeterozygosityChromosomal translocationBiologyResearch and Analysis MethodsPolymorphism Single NucleotideTranslocation GeneticHematologic Cancers and Related DisordersLoss of heterozygosityYoung AdultLeukemia Promyelocytic AcuteLeukemiasGene duplicationMedicine and Health SciencesmedicineHumanslcsh:ScienceAgedChromosome AberrationsChromosomes Human Pair 15Multidisciplinarylcsh:RBreakpointCytogeneticsBiology and Life SciencesComputational BiologyHematologyMiddle AgedPrognosismedicine.diseaseMolecular biologyLeukemiaBioassays and Physiological AnalysisKaryotypingCancer researchlcsh:QFemaleResearch ArticleChromosomes Human Pair 17SNP arrayPLoS ONE
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Proinflammatory Cytokine Profiling of Tears from Dry Eye Patients by Means of Antibody Microarrays

2011

In the pathogenesis of keratoconjunctivitis sicca, immune processes are thought to play an important role. However, the exact details of the pathomechanisms are still unknown. In this study, the expression patterns of proinflammatory cytokines in the tears of patients with different subtypes of dry eye were analyzed.One hundred forty-three subjects subdivided into healthy controls (CTRL, n = 38), patients with aqueous-deficient dry eye (DRYaq, n = 35), patients with changes of the lipid layer (DRYlip, n = 36), and patients with a combination of both (DRYaplip, n = 34) were examined. Expression patterns of proteins (e.g., IL-1β, IL-6, ITNF-α, and IFN-γ) were examined using an advanced antibo…

AdultMaleAdolescentAntibody microarraymedicine.medical_treatmentInterleukin-1betaProtein Array AnalysisDry Eye SyndromesInflammationProinflammatory cytokinePathogenesisInterferon-gammaYoung AdultmedicineHumansChildEye ProteinsAgedbiologyInterleukin-6Tumor Necrosis Factor-alphaInfantMiddle AgedCytokineChild PreschoolTearsImmunologybiology.proteinTearsDry Eye SyndromesFemaleAntibodymedicine.symptomInvestigative Opthalmology & Visual Science
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The gene expression profile of cumulus cells reveals altered pathways in patients with endometriosis

2014

PURPOSE: The objective of this experimental study was to compare the global gene expression profile of CC of mature oocytes in 18 patients with severe endometriosis and CC in 18 control patients affected by a severe male factor. METHODS: For each group, the CC were pooled, RNA was extracted and a microarray performed. For validating the microarray, a quantitative real-time PCR was performed in the CC of an independent set of patients with endometriosis (n = 5) and controls (n = 7). RESULTS: 595 differentially expressed genes (320 down-regulated, 275 up-regulated, p < 0.05, fold change ≥1.5) were identified. The most significant changes were observed in genes involved in the chemokine signal…

AdultMaleAdolescentMicroarrayEndometriosisEndometriosisDown-Regulationmacromolecular substancesBiologyBioinformaticsTranscriptomeAndrologyYoung AdultDownregulation and upregulationSettore BIO/13 - Biologia ApplicataGene expressionGeneticsmedicineHumansGenetics (clinical)Cumulus CellsMicroarray analysis techniquesGene Expression Profilingmusculoskeletal neural and ocular physiologygene expression profile cumulus cellObstetrics and GynecologyGeneral Medicinegene expression profile cumulus cells; microarray; EndometriosisMicroarray Analysismedicine.diseaseUp-RegulationGene expression profilingReproductive Physiology and Diseasenervous systemReproductive MedicineCase-Control StudiesOocytesFemaleSignal transductionTranscriptomemicroarraySignal TransductionDevelopmental Biology
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Analysis of chronic lymphotic leukemia transcriptomic profile: differences between molecular subgroups

2009

B cell chronic lymphocytic leukemia (CLL) is a lymphoproliferative disorder with a variable clinical course. Patients with unmutated IgV(H) gene show a shorter progression-free and overall survival than patients with immunoglobulin heavy chain variable regions (IgV(H)) gene mutated. In addition, BCL6 mutations identify a subgroup of patients with high risk of progression. Gene expression was analysed in 36 early-stage patients using high-density microarrays. Around 150 genes differentially expressed were found according to IgV(H) mutations, whereas no difference was found according to BCL6 mutations. Functional profiling methods allowed us to distinguish KEGG and gene ontology terms showing…

AdultMaleCancer ResearchBCL6BiologyIgVHgenomichemic and lymphatic diseasesmedicineHumansKEGGGenemicroarraysAgedAged 80 and overRegulation of gene expressionGeneticsB-LymphocytesGene Expression ProfilingZAP70HematologyMiddle Agedmedicine.diseaseBCL6Leukemia Lymphocytic Chronic B-CellDNA-Binding ProteinsGene Expression Regulation NeoplasticGene expression profilingLeukemiaOncologyTranscriptomicHealthMutationProto-Oncogene Proteins c-bcl-6Cancer researchImmunoglobulin heavy chainFemaleImmunoglobulin Heavy ChainsCLL
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1q gain and CDT2 overexpression underlie an aggressive and highly proliferative form of Ewing sarcoma

2012

12 páginas, 6 figuras, 1 tabla.-- et al.

AdultMaleCancer ResearchCandidate geneAdolescentDNA Copy Number VariationsUbiquitin-Protein Ligasesclinical outcomeBone NeoplasmsSarcoma EwingBiologyBioinformaticsPolymorphism Single NucleotideTranscriptomeIn vivoCell Line TumorGeneticsmedicineHumansChildMolecular BiologymicroarraysAgedCell ProliferationAged 80 and overCell CycleComputational BiologyInfantNuclear ProteinsMiddle Agedmedicine.disease1q GainIn vitroChromosomes Human Pair 1Child PreschoolCancer researchImmunohistochemistryFemaleCDT2SarcomaDNA microarrayEwing sarcomaComparative genomic hybridization
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Loss of SMARCB1 expression in colon carcinoma

2020

International audience; SMARCB1 is a tumor suppressor gene, which is part of SWI/SNF complex involved in transcriptional regulation. Recently, loss of SMARCB1 expression has been reported in gastrointestinal carcinomas. Our purpose was to evaluate the incidence and prognostic value of SMARCB1 loss in colon carcinoma (CC). Patients with stage III CC (n = 1695), and a second cohort of 23 patients with poorly differentiated CC were analyzed. Immunohistochemistry for SMARCB1 was performed on tissue microarrays, and cases with loss of expression were controlled on whole sections. Loss of SMARCB1 was compared with the clinico-pathological and molecular characteristics, and the prognostic value wa…

AdultMaleCancer ResearchPathologymedicine.medical_specialtyMedullary cavityTumor suppressor geneSMARCB1[SDV.CAN]Life Sciences [q-bio]/Cancercolon carcinomaYoung AdultGeneticsmedicineHumans0501 psychology and cognitive sciencesStage (cooking)SMARCB1AgedNeoplasm Staging0505 lawTissue microarrayBRAF V600Emismatch repair deficiencybusiness.industry05 social sciencesHistologySMARCB1 ProteinGeneral MedicineMiddle Agedmedicine.diseaseImmunohistochemistry3. Good healthOncologyMedullary carcinomaColonic Neoplasms050501 criminologyImmunohistochemistryFemalebusiness050104 developmental & child psychologyCancer Biomarkers
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Comparison of RNA-seq and microarray-based models for clinical endpoint prediction

2015

Background Gene expression profiling is being widely applied in cancer research to identify biomarkers for clinical endpoint prediction. Since RNA-seq provides a powerful tool for transcriptome-based applications beyond the limitations of microarrays, we sought to systematically evaluate the performance of RNA-seq-based and microarray-based classifiers in this MAQC-III/SEQC study for clinical endpoint prediction using neuroblastoma as a model. Results We generate gene expression profiles from 498 primary neuroblastomas using both RNA-seq and 44 k microarrays. Characterization of the neuroblastoma transcriptome by RNA-seq reveals that more than 48,000 genes and 200,000 transcripts are being …

AdultMaleMicroarrayAdolescentEndpoint DeterminationNEUROBLASTOMA PATIENTSgenetic processesRNA-SeqBiologyBioinformaticsRISK STRATIFICATIONTranscriptomeNeuroblastomaYoung AdultREPRODUCIBILITYClinical endpointTumor Cells CulturedBREAST-CANCERHumansnatural sciencesTRANSCRIPTOMEChildGENE-EXPRESSIONOligonucleotide Array Sequence AnalysisSettore BIO/11 - BIOLOGIA MOLECOLAREEXPRESSION-BASED CLASSIFICATIONModels GeneticSequence Analysis RNAGene Expression ProfilingResearchSIGNATUREInfant NewbornBiology and Life SciencesInfantHuman genetics3. Good healthPROSTATE-CANCERGene expression profilingDIFFERENTIATIONChild PreschoolEndpoint DeterminationFemaleDNA microarray
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The transcriptome of spermatozoa used in homologous intrauterine insemination varies considerably between samples that achieve pregnancy and those th…

2009

Objective To differentiate transcripts' expression in the sperm from patients who achieved pregnancy in their first IUI cycle from those who did not. Basic sperm analysis is limited to forecasting pregnancies by means of assisted reproduction. New assays, such as microarray analysis, are potential predictive tools for this purpose. Design Nested case-control study. Setting University-affiliated private setting. Patient(s) Twenty sperm samples were obtained from infertile males undergoing their first IUI cycle with healthy partners. Sperm samples with which pregnancy was achieved (P; n=10) and those with which it was not achieved (NP; n=10) were identified and their respective messenger RNA …

AdultMaleMicroarrayPregnancy Ratemedia_common.quotation_subjectmedicine.medical_treatmentSemenBiologyTranscriptomeAndrologyPregnancymedicineHumansInfertility Malemedia_commonInsemination Artificial HomologousOligonucleotide Array Sequence AnalysisPregnancyArtificial inseminationGene Expression ProfilingUterusObstetrics and Gynecologymedicine.diseaseSpermSpermatozoaSemen AnalysisReproductive MedicineGene Expression RegulationIn uteroCase-Control StudiesFertilizationFemaleReproductionFertility and sterility
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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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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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