Search results for "reverse transcriptase"

showing 10 items of 715 documents

Effects of Presynaptic Mutations on a Postsynaptic Cacna1s Calcium Channel Colocalized with mGluR6 at Mouse Photoreceptor Ribbon Synapses

2008

Purpose Photoreceptor ribbon synapses translate light-dependent changes of membrane potential into graded transmitter release via L-type voltage-dependent calcium channel (VDCC) activity. Functional abnormalities (e.g., a reduced electroretinogram b-wave), arising from mutations of presynaptic proteins, such as Bassoon and the VDCCalpha1 subunit Cacna1f, have been shown to altered transmitter release. L-type VDCCalpha1 subtype expression in wild-type and mutant mice was examined, to investigate the underlying pathologic mechanism. Methods Two antisera against Cacna1f, and a Cacna1f mouse mutant (Cacna1fDeltaEx14-17) were generated. Immunocytochemistry for L-type VDCCalpha1 subunits and addi…

MaleCalcium Channels L-TypeBlotting WesternPresynaptic TerminalsRibbon synapseBiologyReceptors Metabotropic GlutamateSynaptic TransmissionEpitopesMicePostsynaptic potentialAnimalsCalcium SignalingActive zoneFluorescent Antibody Technique IndirectMicroscopy ImmunoelectronSequence DeletionMembrane potentialSheepVoltage-dependent calcium channelReverse Transcriptase Polymerase Chain ReactionCalcium channelMetabotropic glutamate receptor 6ColocalizationAnatomyBlotting NorthernMice Mutant StrainsPeptide FragmentsCell biologyMice Inbred C57BLFemaleCalcium ChannelsRabbitssense organsPhotoreceptor Cells VertebrateInvestigative Opthalmology & Visual Science
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Expression of serologically identified tumor antigens in acute leukemias.

2003

Cancer/testis antigens (CTA) are an expanding family of immunogenic proteins selectively expressed in human neoplasms. As little is known about the expression of serologically identified CTA in leukemias so far, we investigated the expression of 5 CT genes (SSX-1, HOM-MEL-40/SSX-2, HOM-TES-14/SCP-1, SCP-3 and NY-ESO-1) in leukemic blood samples obtained from patients with either acute lymphatic leukemias (ALL) or myelocytic leukemia (AML). RT-PCR-analyses showed no expression of any of the CT-genes in the leukemia samples of 19 patients with AML, whereas frequent expression was found in ALL. In the 17 ALL cases studied, SCP3a, SSX-1, HOM-MEL-40/SXX-2 and HOM-TES-14/SCP-1 were expressed in 4…

MaleCancer ResearchCell Cycle ProteinsSerologyAntigenTesticular NeoplasmsAntigens Neoplasmhemic and lymphatic diseasesBiomarkers TumorMedicineHumansRNA MessengerGeneDNA Primersbusiness.industryGene Expression Regulation LeukemicReverse Transcriptase Polymerase Chain ReactionCancerMembrane ProteinsNuclear ProteinsProteinsHematologyPrecursor Cell Lymphoblastic Leukemia-Lymphomamedicine.diseaseNeoplasm ProteinsDNA-Binding ProteinsRepressor ProteinsLeukemiaLeukemia Myeloid AcuteLymphatic systemOncologyImmunologyCancer/testis antigensMyelocytic leukemiabusinessLeukemia research
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Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease

2017

Abstract In an increasing proportion of cases, hepatocellular carcinoma (HCC) develops in patients with nonalcoholic fatty liver disease (NAFLD). Mutations in telomerase reverse transcriptase (hTERT) are associated with familial liver diseases. The aim of this study was to examine telomere length and germline hTERT mutations as associated with NAFLD‐HCC. In 40 patients with NAFLD‐HCC, 45 with NAFLD‐cirrhosis and 64 healthy controls, peripheral blood telomere length was evaluated by qRT‐PCR and hTERT coding regions and intron–exon boundaries sequenced. We further analyzed 78 patients affected by primary liver cancer (NAFLD‐PLC, 76 with HCC). Enrichment of rare coding mutations (allelic frequ…

MaleCancer ResearchHepatocellular carcinomaSeverity of Illness IndexGermlineLoss of heterozygosityCohort StudiesLiver disease0302 clinical medicineNon-alcoholic Fatty Liver DiseaseNuclear Medicine and ImagingNonalcoholic fatty liver disease80 and overLeukocytesTelomeraseTelomere ShorteningOriginal ResearchCancer BiologyAged 80 and overHepatocellular carcinoma; Nonalcoholic fatty liver; Rare germline mutations; Telomerase reverse transcriptase; Telomere; Oncology; Radiology Nuclear Medicine and Imaging; Cancer ResearchtelomereLiver Neoplasmstelomerase reverse transcriptaseMiddle Aged3. Good healthPhenotypeOncology030220 oncology & carcinogenesisHepatocellular carcinoma030211 gastroenterology & hepatologyFemaleDisease SusceptibilityRadiologySequence AnalysisRare germline mutationCarcinoma HepatocellularMononuclearBiology03 medical and health sciencesGermline mutationHepatocellular carcinoma; Nonalcoholic fatty liver; Rare germline mutations; Telomerase reverse transcriptase; Telomere; Aged; Aged 80 and over; Alleles; Amino Acid Substitution; Carcinoma Hepatocellular; Cohort Studies; Computational Biology; Disease Susceptibility; Female; Genetic Association Studies; Humans; Leukocytes Mononuclear; Liver Neoplasms; Male; Middle Aged; Non-alcoholic Fatty Liver Disease; Phenotype; Sequence Analysis DNA; Severity of Illness Index; Telomerase; Telomere; Telomere Shortening; Germ-Line Mutationmedicinenonalcoholic fatty liverHumansRadiology Nuclear Medicine and imagingTelomerase reverse transcriptaseAllelesGenetic Association StudiesGerm-Line MutationAgedrare germline mutationsCarcinomaComputational BiologyHepatocellularDNASequence Analysis DNAmedicine.diseasedigestive system diseasesTelomereAmino Acid SubstitutionCancer researchLeukocytes MononuclearCancer Medicine
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RORC1 Regulates Tumor-Promoting "Emergency" Granulo-Monocytopoiesis

2015

Cancer-driven granulo-monocytopoiesis stimulates expansion of tumor promoting myeloid populations, mostly myeloid-derived suppressor cells (MDSCs) and tumor-associated macrophages (TAMs). We identified subsets of MDSCs and TAMs based on the expression of retinoic-acid-related orphan receptor (RORC1/RORγ) in human and mouse tumor bearers. RORC1 orchestrates myelopoiesis by suppressing negative (Socs3 and Bcl3) and promoting positive (C/EBPβ) regulators of granulopoiesis, as well as the key transcriptional mediators of myeloid progenitor commitment and differentiation to the monocytic/macrophage lineage (IRF8 and PU.1). RORC1 supported tumor-promoting innate immunity by protecting MDSCs from …

MaleCancer ResearchMyeloidNeutrophilsMacrophageCellular differentiationApoptosisMonocyteMonocyteshemic and lymphatic diseasesMyeloid CellsSOCS3Myeloid CellMyelopoiesisMice KnockoutMicroscopy ConfocalReverse Transcriptase Polymerase Chain ReactionMedicine (all)NeutrophilCell DifferentiationNuclear Receptor Subfamily 1 Group F Member 3Animals; Apoptosis; Cell Differentiation; Cell Line Tumor; Cytokines; Female; Gene Expression Regulation Neoplastic; Granulocytes; Humans; Immunohistochemistry; Macrophages; Male; Mice 129 Strain; Mice Inbred C57BL; Mice Knockout; Microscopy Confocal; Monocytes; Myeloid Cells; Myelopoiesis; Neoplasms Experimental; Neutrophils; Nuclear Receptor Subfamily 1 Group F Member 3; Reverse Transcriptase Polymerase Chain Reaction; Tumor Burden; Cancer Research; Cell Biology; Oncology; Medicine (all)ImmunohistochemistryTumor BurdenGene Expression Regulation NeoplasticHaematopoiesismedicine.anatomical_structureOncologyCytokinesFemaleMyelopoiesisHumanMice 129 StrainBiologySettore MED/08 - Anatomia PatologicaGranulopoiesisArticleMyelopoiesiCell Line TumormedicineAnimalsHumansCytokineInnate immune systemAnimalMacrophagesApoptosiGranulocyteNeoplasms ExperimentalCell BiologyMice Inbred C57BLImmunologyCancer researchIRF8Granulocytes
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Analysis of the structural integrity of the TAP2 gene in renal cell carcinoma.

2003

The transporter associated with antigen processing (TAP) gene products is involved in the processing of endogenous peptides that bind to MHC class I molecules. Mutations and/or polymorphism within these genes could alter the efficacy of the immune response which might be relevant for the development of autoimmune diseases and cancer. In this study we examined both the structural integrity and the polymorphism of TAP2 in renal cell carcinoma lesions by sequencing TAP2 in renal cell carcinoma lesions and autologous normal kidney epithelium. TAP2 sequence analysis of 31 renal cell carcinoma lesions, one oncocytoma and respective autologous normal kidney epithelium revealed no mutation in the T…

MaleCancer ResearchPathologymedicine.medical_specialtyHeterozygoteBiologyKidneyEpitheliumLoss of heterozygosityRenal cell carcinomaATP Binding Cassette Transporter Subfamily B Member 3GenotypeCarcinomamedicineHumansCarcinoma Renal CellAllelesAgedAged 80 and overKidneyPolymorphism GeneticReverse Transcriptase Polymerase Chain ReactionHomozygoteTransporter associated with antigen processingDNADNA Restriction EnzymesMiddle Agedmedicine.diseaseMolecular biologyKidney Neoplasmsmedicine.anatomical_structureOncologyMutationbiology.proteinTAP2RNAATP-Binding Cassette TransportersFemaleGene polymorphismPeptidesInternational journal of oncology
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Analysis of t(15;17) chromosomal breakpoint sequences in therapy-related versus de novo acute promyelocytic leukemia: Association of DNA breaks with …

2010

We compared genomic breakpoints at the PML and RARA loci in 23 patients with therapy-related acute promyelocytic leukemia (t-APL) and 25 de novo APL cases.Eighteen of 23 t-APL cases received the topoisomerase II poison mitoxantrone for their primary disorder. DNA breaks were clustered in a previously reported 8 bp "hot spot" region of PML corresponding to a preferred site of mitoxantrone-induced DNA topoisomerase II-mediated cleavage in 39% of t-APL occurring in patients exposed to this agent and in none of the cases arising de novo (P = 0.007). As to RARA breakpoints, clustering in a 3' region of intron 2 (region B) was found in 65% of t-APL and 28% of de novo APL patients, respectively. S…

MaleCancer ResearchReceptors Retinoic AcidRetinoic AcidMessengerPromyelocytic Leukemia ProteinTranslocation GeneticChromosome BreakpointsLeukemia Promyelocytic Acuteimmune system diseasesReceptorsPromyelocyticGeneticsLeukemiabiologyReverse Transcriptase Polymerase Chain ReactionRetinoic Acid Receptor alphaNuclear ProteinsDNA NeoplasmMiddle AgedFemaleHumanAdultAcute promyelocytic leukemiaChromosome BreakpointsTranslocationAntineoplastic AgentsAcuteChromosomesYoung AdultPromyelocytic leukemia proteinGeneticGeneticsmedicineConsensus sequenceHumansRNA MessengerReceptors Retinoic Acid; Male; Young Adult; Middle Aged; Chromosome Breakpoints; Female; Chromosomes Human Pair 17; Tumor Suppressor Proteins; Humans; DNA Neoplasm; Translocation Genetic; Leukemia Promyelocytic Acute; Antineoplastic Agents; Nuclear Proteins; RNA Messenger; Mitoxantrone; Reverse Transcriptase Polymerase Chain Reaction; Chromosomes Human Pair 15; Transcription Factors; Aged; AdultneoplasmsAgedChromosomes Human Pair 15Pair 17Tumor Suppressor ProteinsTopoisomeraseBreakpointPair 15DNAmedicine.diseaseRetinoic acid receptor alphabiology.proteinNeoplasmRNAHuman genomeMitoxantroneSettore MED/15 - Malattie del SangueChromosomes Human Pair 17Transcription FactorsGenes, Chromosomes and Cancer
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Complete tumor prevention by engineered tumor cell vaccines employing nonviral vectors.

2004

We report that 100% mice survival after tumor challenge is achieved with cytokine-engineered cells employing nonviral lipoplexes and without using viral vectors. We describe this effect with cytokine-secreting tumor cell vaccines, based on cell clones or fresh transfected cells. Tumor cells were transfected with murine granulocyte-macrophage colony-stimulating factor (GM-CSF) or IL-4 plasmids employing the cationic lipid DOTAP, were irradiated (150 Gy) and kept frozen until use. The transfection efficacy was analyzed by qRT-PCR and flow cytometry. Vaccination induced potent antitumor rejection, resulting in 100% mice survival. Furthermore, the antitumor immunity was long lasting, since a tw…

MaleCancer ResearchSkin NeoplasmsGenetic enhancementCellGenetic VectorsAntineoplastic AgentsBiologyCancer VaccinesViral vectorFlow cytometryMicemedicineAnimalsMolecular BiologyMelanomaInterleukin 4medicine.diagnostic_testReverse Transcriptase Polymerase Chain ReactionMelanomaGranulocyte-Macrophage Colony-Stimulating FactorTransfectionGenetic TherapyNeoplasms Experimentalmedicine.diseaseFlow CytometryVirologySurvival AnalysisMice Inbred C57BLmedicine.anatomical_structureGranulocyte macrophage colony-stimulating factorMolecular MedicineFemaleInterleukin-4Genetic Engineeringmedicine.drugCancer gene therapy
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Human endogenous retrovirus rec interferes with germ cell development in mice and may cause carcinoma in situ, the predecessor lesion of germ cell tu…

2005

Germ cell tumors (GCTs) are among the most common malignancies in young men. We have previously documented that patients with GCT frequently produce serum antibodies directed against proteins encoded by human endogenous retrovirus (HERV) type K sequences. Transcripts originating from the env gene of HERV-K, including the rec-relative of human immunodeficiency virus rev, are highly expressed in GCTs. We report here that mice that inducibly express HERV-K rec show a disturbed germ cell development and may exhibit, by 19 months of age, changes reminiscent of carcinoma in situ, the predecessor lesion of classic seminoma in humans. This provides the first direct evidence that the expression of a…

MaleCancer ResearchTime FactorsvirusesTransgeneBlotting WesternEndogenous retrovirusApoptosisMice TransgenicEndogenyBiologymedicine.disease_causeMiceViral Envelope ProteinsCell Line TumorGeneticsmedicineAnimalsHumansHuman endogenous retrovirus KRNA MessengerMolecular BiologyModels GeneticReverse Transcriptase Polymerase Chain ReactionEndogenous RetrovirusesSeminomaNeoplasms Germ Cell and EmbryonalSeminiferous Tubulesmedicine.diseaseVirologyProtein Structure TertiaryAlternative SplicingGerm Cellsmedicine.anatomical_structureMicroscopy FluorescenceCancer researchGerminomaGerm cell tumorsCarcinogenesisCarcinoma in SituGerm cellOncogene
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Reduced expression of Hugl-1, the human homologue of Drosophila tumour suppressor gene lgl, contributes to progression of colorectal cancer.

2005

The human gene, human giant larvae (Hugl-1/Llg1/Lgl1) has significant homology to the Drosophila tumour suppressor gene lethal(2)giant larvae (lgl). The lgl gene codes for a cortical cytoskeleton protein, Lgl, that binds Myosin II and is involved in maintaining cell polarity and epithelial integrity. The human protein, Hugl-1 contains several conserved functional domains found in Lgl, suggesting that these proteins may have closely related functions. Whether loss of Hugl expression plays a role in human tumorigenesis has so far not been extensively investigated. Thus, we evaluated tumour tissues from 94 patients undergoing surgery for colorectal cancer (CRC) for loss of Hugl-1 transcription…

MaleCancer ResearchTranscription Geneticmedicine.disease_causeCell MovementNeoplasmsGene expressionDrosophila ProteinsIntestinal MucosaCytoskeletonReverse Transcriptase Polymerase Chain ReactionCell CycleCell migrationCell DifferentiationMiddle AgedImmunohistochemistryGene Expression Regulation NeoplasticDrosophila melanogasterDisease ProgressionFemaleColorectal NeoplasmsAdenomaAdultTumor suppressor geneBlotting WesternGreen Fluorescent ProteinsDown-RegulationBiologyCell LineDownregulation and upregulationCell Line TumorGeneticsmedicineCell AdhesionAnimalsHumansCell adhesionMolecular BiologyGeneTumor Suppressor ProteinsCarcinomaProteinsProtein Structure TertiaryCytoskeletal ProteinsMicroscopy FluorescenceTumor progressionImmunologyCancer researchCaco-2 CellsCarcinogenesisOncogene
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BRAF(V600E) MUTATION AND THE BIOLOGY OF PAPILLARY THYROID CANCER

2008

BRAF((V600E)) mutation is the most frequent genetic alteration in papillary thyroid carcinomas (PTCs) that are 80-90% of all thyroid cancers. We evaluated the relationship between BRAF((V600E)) and tumor, host, and environmental factors in PTCs from all geographical areas of Sicily. By PCR, BRAF((V600E)) was investigated in a series of 323 PTCs diagnosed in 2002-2005. The correlation between clinicopathological tumor, host, and environmental characteristics and the presence of BRAF((V600E)) were evaluated by both univariate and multivariate analyses. BRAF((V600E)) was found in 38.6% PTCs, with a 52% frequency in the classical PTCs and 26.4% in the tall cell variant. Univariate analysis indi…

MaleCancer Researchendocrine system diseasesEndocrinology Diabetes and Metabolismmedicine.disease_causethyroidPapillary thyroid cancerSettore MED/13 - EndocrinologiaImmunoenzyme TechniquesEndocrinologythyroid cancerskin and connective tissue diseasesSicilyMicrodissectionBRAF(V600E)Univariate analysisMutationGeographyReverse Transcriptase Polymerase Chain ReactionThyroidBRAF V600; Papillary Thyroid CancerMiddle Agedhumanitiesmedicine.anatomical_structureMatrix Metalloproteinase 9OncologyLymphatic MetastasisDisease ProgressionFemaleMicrodissectionProto-Oncogene Proteins B-rafPapillary thyroid cancer BRAF(V600E) thyroid thyroid cancerBRAF V600BiologyThyroid carcinomamedicineCarcinomaHumansNeoplasm InvasivenessRNA MessengerThyroid NeoplasmsneoplasmsDNA PrimersLasersPapillary thyroid cancer BRAFmedicine.diseaseCarcinoma Papillarydigestive system diseasesMutationCancer researchV600EFollow-Up StudiesPapillary Thyroid Cancer
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