Search results for "REGION"

showing 10 items of 4910 documents

Stochastic Loss of Silencing of the Imprinted Ndn/NDN Allele, in a Mouse Model and Humans with Prader-Willi Syndrome, Has Functional Consequences

2013

Genomic imprinting is a process that causes genes to be expressed from one allele only according to parental origin, the other allele being silent. Diseases can arise when the normally active alleles are not expressed. In this context, low level of expression of the normally silent alleles has been considered as genetic noise although such expression has never been further studied. Prader-Willi Syndrome (PWS) is a neurodevelopmental disease involving imprinted genes, including NDN, which are only expressed from the paternally inherited allele, with the maternally inherited allele silent. We present the first in-depth study of the low expression of a normally silent imprinted allele, in path…

Cancer ResearchHeterozygotelcsh:QH426-470Apnea[SDV]Life Sciences [q-bio]Nerve Tissue ProteinsBiologyEpigenesis Genetic03 medical and health sciencesGenomic ImprintingMice0302 clinical medicineGeneticsAnimalsHumansEpigeneticsAlleleImprinting (psychology)Promoter Regions GeneticMolecular BiologyGeneGenetics (clinical)Ecology Evolution Behavior and SystematicsAlleles030304 developmental biologyGeneticsMice Knockout0303 health sciencesBrainNuclear ProteinsPhenotypeAllelic exclusionDisease Models Animallcsh:GeneticsGene Expression RegulationDNA methylationGenomic imprintingPrader-Willi Syndrome030217 neurology & neurosurgeryResearch Article
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The BCL6 gene in B-cell lymphomas with 3q27 translocations is expressed mainly from the rearranged allele irrespective of the partner gene

2003

The BCL6 gene, which functions as a transcription repressor, is the target of multiple chromosomal translocations in non-Hodgkin's lymphomas (NHL). These translocations occur in the nontranslated region of the BCL6 gene, juxtaposing regulatory sequences of the diverse partner genes to the open reading frame of the BCL6 gene and thus are thought to deregulate BCL6 gene expression. The levels of expression of the BCL6 gene and protein have been demonstrated to predict the clinical outcome of diffuse large B-cell lymphomas. By contrast, the prognostic significance of BCL6 gene translocations is unclear. In this study we have sought an explanation for this apparent discrepancy. We examined tumo…

Cancer ResearchLymphoma B-CellBiologyTranslocation Geneticimmune system diseasesProto-Oncogene Proteinshemic and lymphatic diseasesGene expressionTumor Cells CulturedHumansRNA MessengerAllelePromoter Regions GeneticGeneAllelesGene RearrangementGeneticsRegulation of gene expressionPromoterHematologyGene rearrangementBCL6Neoplasm ProteinsDNA-Binding ProteinsGene Expression Regulation NeoplasticRepressor ProteinsOncologyRegulatory sequenceMutationProto-Oncogene Proteins c-bcl-6Cancer researchChromosomes Human Pair 3Transcription FactorsLeukemia
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Negative transcriptional control of ERBB2 gene by MBP-1 and HDAC1: diagnostic implications in breast cancer

2013

Abstract Background The human ERBB2 gene is frequently amplified in breast tumors, and its high expression is associated with poor prognosis. We previously reported a significant inverse correlation between Myc promoter-binding protein-1 (MBP-1) and ERBB2 expression in primary breast invasive ductal carcinoma (IDC). MBP-1 is a transcriptional repressor of the c-MYC gene that acts by binding to the P2 promoter; only one other direct target of MBP-1, the COX2 gene, has been identified so far. Methods To gain new insights into the functional relationship linking MBP-1 and ERBB2 in breast cancer, we have investigated the effects of MBP-1 expression on endogenous ERBB2 transcript and protein lev…

Cancer ResearchMBP-1/EnolaseReceptor ErbB-2Breast NeoplasmsHistone Deacetylase 1BiologyERBB geneBreast cancerTranscriptional regulationTranscription (biology)Histone DeacetylaseBreast CancermedicineTranscriptional regulationBiomarkers TumorTumor Cells CulturedGeneticsHumansMBP-1ERBB2Promoter Regions Geneticskin and connective tissue diseasesGeneReporter geneCarcinoma Ductal BreastCancerTransfectionGenes erbB-2medicine.diseaseImmunohistochemistryHDAC1Neoplasm ProteinsDNA-Binding ProteinsGene Expression Regulation NeoplasticSettore BIO/18 - GeneticaOncologyCancer researchChromatin immunoprecipitationResearch ArticleBMC Cancer
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Differentially methylated genes in proliferative verrucous leukoplakia reveal potential malignant biomarkers for oral squamous cell carcinoma

2021

Objectives: To explore the pathophysiology of proliferative verrucous leucoplakia (PVL) through a methylated DNA immunoprecipitation and high-throughput sequencing (MeDIP-seq) case-control study. Materials and & nbsp; Methods: Oral biopsies from ten PVL patients and five healthy individuals were obtained and used to compare their epigenetic patterns. Network biology methods and integrative analyses of MeDIP-seq and RNAseq data were applied to investigate functional relations among differentially methylated genes (DMGs). The value of selected genes as malignant biomarkers was evaluated in a large cohort of oral squamous cell carcinoma (OSCC) patients from TCGA.& nbsp; Results: A total of 464…

Cancer ResearchMeDIP-seqBiology03 medical and health sciences0302 clinical medicinemedicineHumansMethylated DNA immunoprecipitationEpigeneticsDifferential methylation030223 otorhinolaryngologyBone morphogenesisSquamous Cell Carcinoma of Head and NeckOral cancerGATA3CancerBiomarkerDNA Methylationmedicine.diseaseRNAseqDifferentially methylated regionsOncologyOral squamous cell carcinomaCase-Control Studies030220 oncology & carcinogenesisDNA methylationCancer researchProliferative verrucous leukoplakiaMouth NeoplasmsEpigeneticsGene ontologyLeukoplakia OralOral SurgeryBiomarkersHOXD10
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SOCS2 controls proliferation and stemness of hematopoietic cells under stress conditions and its deregulation marks unfavorable acute leukemias

2015

Abstract Hematopoietic stem cells (HSC) promptly adapt hematopoiesis to stress conditions, such as infection and cancer, replenishing bone marrow–derived circulating populations, while preserving the stem cell reservoir. SOCS2, a feedback inhibitor of JAK–STAT pathways, is expressed in most primitive HSC and is upregulated in response to STAT5-inducing cytokines. We demonstrate that Socs2 deficiency unleashes HSC proliferation in vitro, sustaining STAT5 phosphorylation in response to IL3, thrombopoietin, and GM-CSF. In vivo, SOCS2 deficiency leads to unrestricted myelopoietic response to 5-fluorouracil (5-FU) and, in turn, induces exhaustion of long-term HSC function along serial bone marro…

Cancer ResearchMyeloidSuppressor of Cytokine Signaling ProteinsMice TransgenicNeoplasm ProteinMiceBone MarrowSuppressor of Cytokine Signaling ProteinmedicineAnimalsHumansMEF2 Transcription FactorThrombopoietinSTAT5Cell ProliferationRegulation of gene expressionABLLeukemiabiologyMEF2 Transcription FactorsAnimalMedicine (all)Animals; Bone Marrow; Cell Differentiation; Cell Proliferation; Fluorouracil; Gene Expression Regulation Neoplastic; Hematopoietic Stem Cells; Humans; Leukemia; MEF2 Transcription Factors; Mice; Mice Transgenic; Neoplasm Proteins; Neoplastic Stem Cells; Suppressor of Cytokine Signaling Proteins; Cancer Research; Oncology; Medicine (all)breakpoint cluster regionCell DifferentiationHematopoietic Stem CellHematopoietic Stem CellsNeoplasm ProteinsGene Expression Regulation NeoplasticHaematopoiesismedicine.anatomical_structureOncologyImmunologybiology.proteinCancer researchNeoplastic Stem CellsFluorouracilNeoplastic Stem CellStem cellHuman
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Vascularity, perfusion rate and local tissue oxygenation of tumors derived from ras-transformed fibroblasts.

2007

Tumors derived from ras-transformed rat fibroblasts were investigated in order to gain insight into possible interrelationships between oncogenic transformations and therapeutically relevant parameters of the metabolic micromilieu of solid tumors in vivo. Tumors grew in nude mice after injection of in vitro-passaged cells. Growth rates, early stages of angiogenesis, perfusion and tissue oxygenation were assessed. Compared with the parental cell line, both ras transformants grew very rapidly and exhibited an early onset of angiogenesis. Perfusion rates of one ras-transformed tumor line were similar to those of the parental tumors whereas reduced flow values were detected in tumors of the oth…

Cancer ResearchPathologymedicine.medical_specialtyRatónAngiogenesisPartial PressureMice NudeBiologyTransfectionCell LineMiceVascularityOxygen ConsumptionIn vivomedicineAnimalsHumansCardiac OutputFibroblastOncogeneNeovascularization PathologicOxygenationArteriesNeoplasms ExperimentalRatsPerfusionThallium Radioisotopesmedicine.anatomical_structureCell Transformation NeoplasticGenes rasOncologyOrgan SpecificityRegional Blood FlowAutoradiographymedicine.symptomPerfusionCell DivisionInternational journal of cancer
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Pixel-to-pixel correlation between images of absolute ATP concentrations and blood flow in tumours

1992

Iodo(14C-)antipyrine autoradiography and imaging bioluminescence have been combined to obtain pixel-to-pixel correlations between absolute values for local blood flow and ATP concentrations at a microscopical level within designated areas in hamster melanomas. Positive pixel-to-pixel correlations were obtained in 4 of 6 tumours. Both flow and ATP values were less in mostly necrotic than in mostly viable tumour regions. The data provide evidence for the energetic state of cancer cells being strongly influenced by the efficiency of tumour microcirculation in several but not in all malignancies investigated. Images Figure 1

Cancer ResearchPathologymedicine.medical_specialtySkin NeoplasmsHamsterHemodynamicsBiologyMicrocirculationNecrosisAdenosine TriphosphateCricetinaemedicineAnimalsBioluminescenceMelanomaMesocricetusMelanomaBlood flowmedicine.diseasebiology.organism_classificationbody regionsOncologyRegional Blood FlowLuminescent MeasurementsCancer cellAutoradiographyAntipyrineMesocricetusResearch ArticleBritish Journal of Cancer
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Abstract 495: Amplification of chromosomal regions 12q13-14 and 12q15 defines a distinct subgroup of high-risk neuroblastoma patients and is associat…

2015

Abstract Neuroblastoma is a pediatric cancer of the sympathetic nervous system with wide heterogeneity regarding clinobiological subtypes, ranging from patients with tumors of spontaneous regression to patients with aggressive tumors with fatal outcome despite multimodal treatment. MYCN-amplification and 11q-deletion are important, although incomplete, markers of high-risk neuroblastoma. Thus, characterization of additional genomic alterations that can be used as prognostic and/or predictive markers is of clinical importance in order to provide best possible treatment. From genomic profiles generated through high-density SNP microarrays we identified a group of neuroblastomas (14 primary tu…

Cancer ResearchPathologymedicine.medical_specialtymedicine.medical_treatmentCancerBiologyAmpliconmedicine.diseasePediatric cancerTargeted therapyOncologyNeuroblastomaChromosomal regionCancer researchmedicineneoplasmsChromosome 12Exome sequencingCancer Research
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Transforming Growth Factor-β–Mediated Tumor Necrosis Factor-Related Apoptosis-Inducing Ligand Expression and Apoptosis in Hepatoma Cells Requires Fun…

2008

Abstract Transforming growth factor-β (TGF-β) has been shown to induce apoptotic cell death in normal and transformed hepatocytes. We recently identified tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) as an important mediator of TGF-β–induced apoptosis in hepatoma cells. In this study, we have further explored the mechanism by which TGF-β up-regulates TRAIL expression. The 5′-flanking region of the TRAIL gene was isolated and characterized. Deletion mutants of the 5′-untranslated region of the TRAIL gene revealed a region comprising nucleotides −1950 to −1100 responsible for TRAIL induction following treatment with TGF-β. Within this region, we have identified an activator …

Cancer ResearchProgrammed cell deathCarcinoma HepatocellularMolecular Sequence DataApoptosisSmad ProteinsSMADBiologyTNF-Related Apoptosis-Inducing LigandTransforming Growth Factor betaCell Line TumorHumansGene SilencingPromoter Regions GeneticMolecular BiologySmad4 ProteinBase SequenceActivator (genetics)Liver NeoplasmsDNA NeoplasmTranscription Factor AP-1OncologyCell cultureApoptosisMutationCancer researchTumor necrosis factor alphaProtein BindingSignal TransductionTransforming growth factorFOSBMolecular Cancer Research
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HIF-1 is involved in the negative regulation of AURKA expression in breast cancer cell lines under hypoxic conditions

2013

Numerous microarray-based gene expression studies performed on several types of solid tumors revealed significant changes in key genes involved in progression and regulation of the cell cycle, including AURKA that is known to be overexpressed in many types of human malignancies. Tumor hypoxia is associated with poor prognosis in several cancer types, including breast cancer (BC). Since hypoxia is a condition that influences the expression of many genes involved in tumorigenesis, proliferation, and cell cycle regulation, we performed a microarray-based gene expression analysis in order to identify differentially expressed genes in BC cell lines exposed to hypoxia. This analysis showed that h…

Cancer ResearchSettore MED/06 - Oncologia MedicaDown-RegulationBreast NeoplasmsBiologymedicine.disease_causeAURKA Breast cancer Cell cycle HIF-1a HypoxiaCell Line TumorGene expressionTranscriptional regulationmedicineHumansPromoter Regions GeneticAurora Kinase ARegulation of gene expressionGene knockdownTumor hypoxiaCell cycleHypoxia (medical)Hypoxia-Inducible Factor 1 alpha SubunitMolecular biologyCell HypoxiaGene Expression Regulation NeoplasticOncologyGene Knockdown TechniquesCancer researchFemalemedicine.symptomCarcinogenesisBreast Cancer Research and Treatment
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