Search results for "A2"

showing 10 items of 1101 documents

High frequency of functionally active Melan-a-specific T cells in a patient with progressive immunoproteasome-deficient melanoma.

2004

AbstractTumor-reactive T cells play an important role in cancer immunosurveillance. Applying the multimer technology, we report here an unexpected high frequency of Melan-A–specific CTLs in a melanoma patient with progressive lymph node metastases, consisting of 18 and 12.8% of total peripheral blood and tumor-infiltrating CD8+ T cells, respectively. Melan-A–specific CTLs revealed a high cytolytic activity against allogeneic Melan-A–expressing target cells but failed to kill the autologous tumor cells. Loading of the tumor cells with Melan-A peptide reversed the resistance to killing, suggesting impaired function of the MHC class I antigen processing and presentation pathway. Mutations of t…

MaleCancer ResearchProteasome Endopeptidase ComplexEpitopeImmune systemMART-1 AntigenTapasinAntigens NeoplasmMultienzyme ComplexesMHC class IHLA-A2 AntigenmedicineHumansMelanomabiologyMHC class I antigenMelanomaMiddle Agedmedicine.diseaseNeoplasm ProteinsImmunosurveillanceCysteine EndopeptidasesOncologyImmunologyMutationCancer researchbiology.proteinLymph NodesCD8T-Lymphocytes CytotoxicCancer research
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Detection and clinical implications of a novel BCR-ABL1 E12A2 insertion/deletion in a CML patient expressing the E13A2 isoform

2019

Background/Aim: The Philadelphia chromosome is the most frequent cytogenetic abnormality in chronic myelogenous (CML). More than 95% of CML patients are diagnosed with the e13a2 or e14a2 BCR-ABL1 fusion transcripts while, in about 1% of these individuals, the break generates the e1a2 rearrangement. Furthermore, about 5% of CML patients are diagnosed with rare BCR-ABL1 fusion transcripts, such as e19a2, e8a2, e13a3, e14a3, e1a3 and e6a2. However, there is limited evidence concerning the clinical and prognostic implications of these infrequent oncogenic variants for CML patients receiving tyrosine kinase inhibitors (TKIs). Case Report: We describe a novel atypical e12a2 insertion/deletion (In…

MaleCancer Researchbcr-ablFusion Proteins bcr-ablBCR-ABL1; CML; E12a2; E13a2; Nilotinib; Ponatinib; TKIs; Antineoplastic Combined Chemotherapy Protocols; Fusion Proteins bcr-abl; Humans; INDEL Mutation; Imidazoles; Leukemia Myelogenous Chronic BCR-ABL Positive; Male; Middle Aged; Protein Isoforms; Pyridazines; Pyrimidines; Treatment Outcomechemistry.chemical_compoundExon0302 clinical medicineINDEL Mutationhemic and lymphatic diseasesAntineoplastic Combined Chemotherapy ProtocolsProtein IsoformsChronicCMLLeukemiaPonatinibImidazolesGeneral MedicineMiddle AgedTKIPyridazinesTreatment OutcomeOncology030220 oncology & carcinogenesisPonatinibPyridazineTyrosine kinaseINDEL MutationE13a2Humanmedicine.drugPhiladelphia chromosome03 medical and health sciencesMyelogenousLeukemia Myelogenous Chronic BCR-ABL PositivemedicineHumansImidazoleAntineoplastic Combined Chemotherapy Protocolbusiness.industryBreakpointProtein IsoformFusion Proteinsmedicine.diseaseNilotinibBCR-ABL1PyrimidinesPyrimidinechemistryNilotinibTKIsCancer researchBCR-ABL PositivebusinessE12a2Myelogenous
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Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

2012

Pancreatic adenocarcinoma (PC) is the third most common cancer associated with BRCA mutations. Most notice has been given to BRCA2, while the association between BRCA1 and PC is less widely reported. Recently, PALB2 has been implicated in both PC and breast cancer (BC) susceptibility. We selected 29 Italian PC patients from a case-control study of PC according to their personal and family history of both PC and breast/ovarian cancer (BC/OC) and tested them for presence of germline mutations in BRCA1, BRCA2 and PALB2. We identified no germline mutations or deletions in PALB2, but detected 7 BRCA mutations (4 in BRCA1 and 3 in BRCA2). These findings suggest that PALB2 does not play a major ro…

MaleCancer Researchendocrine system diseasesSettore MED/06 - Oncologia MedicaBRCAGermlineGermline mutationHereditary breast ovarian cancer syndrome (HBOC)skin and connective tissue diseasesGenetics (clinical)Nuclear ProteinOvarian NeoplasmsAged 80 and overGeneticseducation.field_of_studyBRCA1 ProteinPancreatic NeoplasmNuclear ProteinsMiddle Agedfemale genital diseases and pregnancy complicationsPedigreeItalyOncologyAdenocarcinomaFemaleCase-Control StudieFanconi Anemia Complementation Group N ProteinPancreatic cancer susceptibility; BRCA; PALB2; Hereditary breast ovarian cancer syndrome (HBOC); Germline mutationBreast NeoplasmHumanAdultPALB2PopulationBreast NeoplasmsAdenocarcinomaGermline mutationBreast cancerGeneticPancreatic cancerGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationGerm-Line MutationAgedBRCA2 ProteinTumor Suppressor Proteinbusiness.industryTumor Suppressor ProteinsOvarian NeoplasmCancermedicine.diseasePancreatic cancer susceptibilityPancreatic NeoplasmsCase-Control StudiesPALB2businessGene DeletionFamilial Cancer
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Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

2006

International audience; Objective: Autism is a complex, largely genetic psychiatric disorder. In the majority of cases, the cause of autism is not known, but there is strong evidence for a genetic etiology. To identify candidate genes, the physical mapping of balanced chromosomal aberrations is a powerful strategy, since several genes have been characterized in numerous disorders. In this study, the authors analyzed a balanced reciprocal translocation arising de novo in a subject with autism and mental retardation. Method: The authors performed the physical mapping of the balanced 9q23/ 10q22 translocation by fluorescent in situ hybridization experiments using bacterial artificial chromosom…

MaleCandidate geneChromosomes Artificial BacterialIndolesDNA Mutational AnalysisRegulatorChromosomal translocationautism mental retardation KCNMA1 genelarge conductance Ca(2+)-activated K(+) (BK(Ca)) channel synaptic transmission chromosomal translocationSynaptic TransmissionTranslocation GeneticPair 10CA2+-ACTIVATED K+ CHANNELSCloning MolecularChildLarge-Conductance Calcium-Activated Potassium Channel alpha SubunitsMUTATIONIn Situ HybridizationIn Situ Hybridization FluorescenceReverse Transcriptase Polymerase Chain ReactionBacterialChromosome MappingETIOLOGYPsychiatry and Mental healthArtificialKCNMA1 Gene[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]HaploinsufficiencyPsychologyChromosomes Human Pair 9POTASSIUM CHANNELSHumanPair 9Autistic Disorder; Child; Chromosome Aberrations; Chromosome Mapping; Chromosomes; Artificial; Bacterial; Chromosomes; Human; Pair 10; Chromosomes; Human; Pair 9; Cloning; Molecular; DNA Mutational Analysis; Humans; In Situ Hybridization; Fluorescence; Indoles; Intellectual Disability; Large-Conductance Calcium-Activated Potassium Channel alpha Subunits; Male; Reverse Transcriptase Polymerase Chain Reaction; Synaptic Transmission; Translocation; GeneticTranslocationNeurotransmissionChromosomesFluorescenceGeneticIntellectual DisabilitymedicineHumansAutistic DisorderRELEASEChromosome AberrationsCOMPLEXChromosomes Human Pair 10MolecularAutistic Disorder; Child; Chromosome Aberrations; Chromosome Mapping; Chromosomes Artificial Bacterial; Chromosomes Human Pair 10; Chromosomes Human Pair 9; Cloning Molecular; DNA Mutational Analysis; Humans; In Situ Hybridization Fluorescence; Indoles; Intellectual Disability; Large-Conductance Calcium-Activated Potassium Channel alpha Subunits; Male; Reverse Transcriptase Polymerase Chain Reaction; Synaptic Transmission; Translocation GeneticPERVASIVE DEVELOPMENTAL DISORDERSmedicine.diseaseDevelopmental disorderINDIVIDUALSLARGE-CONDUCTANCEAutismSCREENNeuroscience[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyCloning
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p38 MAP kinase drives the expression of mast cell-derived IL-9 via activation of the transcription factor GATA-1.

2007

Mast cells are able to produce a huge panel of mediators including the Th2-type cytokine IL-9, which is considered to be a key mediator for the pathogenesis of allergic asthma, but detailed information on the regulation of IL-9 transcription in mast cells has been scarce. Herein we provide evidence that the erythroid/myeloid transcription factor GATA-1, which is not expressed in Th2 cells, is a potent activator of IL-9 expression in murine bone marrow-derived mast cells (BMMC). Furthermore, in mast cells, but not in Th2 cells, production of IL-9 is sensitive to inhibition of p38 MAP kinase. As transactivation mediated by GATA-1 is also sensitive to inhibition of p38 MAP kinase, and GATA-1 i…

MaleCell signalingmedicine.medical_treatmentImmunologyBone Marrow CellsGATA3 Transcription FactorBiologyp38 Mitogen-Activated Protein KinasesTransactivationMiceTh2 CellsmedicineAnimalsGATA1 Transcription FactorMast CellsRNA MessengerPhosphorylationPromoter Regions GeneticMolecular BiologyInterleukin 5Mice Inbred BALB CGATA2Interleukin-9Mast cellCell biologyInterleukin 33GATA2 Transcription FactorCytokinemedicine.anatomical_structureGene Expression RegulationInterleukin 15MutationFemaleMolecular immunology
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The inhibition by flavonoids of 2-amino-3-methylimidazo[4,5-f]quinoline metabolic activation to a mutagen: a structure-activity relationship study.

1997

The mutagenicity of 2-amino-3-methylimidazo[4,5-f]quinoline (IQ) in Salmonella typhimurium TA98 is inhibited by flavonoids with distinct structure-antimutagenicity relationships (Edenharder, R., I. von Petersdorff I. and R. Rauscher (1993). Antimutagenic effects of flavonoids, chalcones and structurally related compounds on the activity of 2-amino-3-methylimidazo[4,5-f]quinoline (IQ) and other heterocyclic amine mutagens from cooked food, Mutation Res., 287, 261-274). With respect to the mechanism(s) of antimutagenicity, the following results were obtained here. (1) 7-Methoxy- and 7-ethoxyresorufin-O-dealkylase activities in rat liver microsomes, linked to cytochrome P-450-dependent 1A1 and…

MaleCytochrome P-450 CYP1A2 InhibitorsHealth Toxicology and MutagenesisHydroxylationFlavonesRats Sprague-Dawleychemistry.chemical_compoundStructure-Activity RelationshipFlavonolsCytochrome P-450 Enzyme SystemGeneticsCytochrome P-450 CYP1A1AnimalsMolecular BiologyBiotransformationchemistry.chemical_classificationFlavonoidsMutagenicity Testsfood and beveragesAntimutagenic AgentsMonooxygenaseDiosmetinRatschemistryBiochemistryHydroxyquinolinesMicrosomes LiverQuinolinesOxidoreductasesAntimutagenFlavanoneLuteolinFisetinMutagensMutation research
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Differential Effects of Nonhydroxylated Flavonoids as Inducers of Cytochrome P450 1A and 2B Isozymes in Rat Liver

1996

Flavanone, flavone, and tangeretin differentially affected the activities of cytochrome P540 1A and 2B isozymes in rat liver. Flavone and, to a lesser extent, tangeretin, increased activities of ethoxyresorufin O-deethylase, methoxyresorufin O-demethylase, and pentoxyresorufin O-dealkylase (PROD), whereas flavanone mainly enhanced PROD activity. Immunoblot analysis indicated that flavone and tangeretin increased cytochrome P450 1A1, 1A2, and 2B1,2 forms, whereas flavanone only enhanced the cytochrome P450 2B isozymes. Northern blot study showed that flavone and tangeretin increased the level of the cytochrome P450 1A2 mRNAs. The concentration of the other mRNAs were slightly or not affected…

MaleCytochromeBlotting WesternMolecular Sequence Data[SDV.TOX.TCA]Life Sciences [q-bio]/Toxicology/Toxicology and food chainToxicologyFlavonesIsozymeTangeretinchemistry.chemical_compoundCytochrome P-450 Enzyme SystemAnimalsRNA MessengerRats WistarEnzyme inducerFlavonoidsPharmacologychemistry.chemical_classificationBase SequencebiologyCYP1A2Cytochrome P450Blotting NorthernFlavonesRatsIsoenzymesLiverchemistryBiochemistryEnzyme InductionFlavanonesMicrosomes Liverbiology.proteinFlavanoneToxicology and Applied Pharmacology
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Regio- and stereoselective regulation of monooxygenase activities by isoenzyme-selective phosphorylation of cytochrome P450.

1989

The phosphorylation of the two major phenobarbital-inducible cytochrome P450 isoenzymes IIB1 and IIB2 was increased in hepatocytes by the action of the membrane permeating cAMP derivatives N6-dibutyryl-cAMP and 8-thiomethyl-cAMP. Under these conditions the dealkylation of 7-pentoxyresorufin, a selective substrate of cytochrome P450IIB1 and P450IIB2 was markedly reduced. 16 beta-Hydroxylation of testosterone which is catalyzed specifically only by cytochrome P450IIB1 and IIB2 was strongly reduced; for 16 alpha-hydroxylation which is also catalyzed by cytochrome P450IIB1 and IIB2 but additionally by 3 further cytochrome P450 isoenzymes, this reduction was less pronounced; for the oxidation of…

MaleCytochromeStereochemistry25-Hydroxyvitamin D3 1-alpha-hydroxylaseBiophysicsHydroxylationBiochemistryMixed Function OxygenasesCytochrome P-450 Enzyme SystemCyclic AMPCytochrome c oxidaseAnimalsTestosteronePhosphorylationMolecular BiologybiologyChemistryCytochrome c peroxidaseCytochrome cCYP1A2Cytochrome P450 reductaseRats Inbred StrainsCell BiologyRatsIsoenzymesBiochemistryLiverSteroid 16-alpha-HydroxylaseCoenzyme Q – cytochrome c reductasePhenobarbitalbiology.proteinProtein Processing Post-TranslationalBiochemical and biophysical research communications
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Negative regulation of diacylglycerol kinase θ mediates adenosine-dependent hepatocyte preconditioning

2010

In liver ischemic preconditioning (IP), stimulation of adenosine A2a receptors (A2aR) prevents ischemia/reperfusion injury by promoting diacylglycerol-mediated activation of protein kinase C (PKC). By concerting diacylglycerol to phosphatidic acid, diacylglycerol kinases (DGKs) act as terminator of diacylglycerol signalling. This study investigates the role of DGK in the development of hepatocyte IP. DGK activity and cell viability were evaluated in isolated rat hepatocytes preconditioned by 10 min hypoxia followed by 10 min re-oxygenation or by the treatment with the A2aR agonist, CGS21680, and subsequently exposed to prolonged hypoxia. We observed that after IP or A2aR activation, a decre…

MaleDiacylglycerol Kinasemedicine.medical_specialtyAdenosineReceptor Adenosine A2Ap38 mitogen-activated protein kinasesBiologyQuinazolinonechemistry.chemical_compoundPiperidinecytoprotectionPiperidinesDownregulation and upregulationDiacylglycerol kinase thetaInternal medicinemedicineEnzyme Inhibitorhepatocytes adenosine RhoA hypoxia cytoprotectionAnimalsHepatocyteEnzyme InhibitorsRats WistarMolecular BiologyCells CulturedProtein kinase CQuinazolinonesDiacylglycerol kinaseCell DeathAnimalhypoxiaKinaseReceptors Purinergic P1RhoACell BiologyPhosphatidic acidAdenosineCell HypoxiaRatsCell biologyEndocrinologychemistryHepatocytesRatrhoA GTP-Binding Proteinmedicine.drugCell Death & Differentiation
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Analysis of Mycobacterium tuberculosis-Specific CD8 T-Cells in Patients with Active Tuberculosis and in Individuals with Latent Infection

2009

CD8 T-cells contribute to control of Mycobacterium tuberculosis infection, but little is known about the quality of the CD8 T-cell response in subjects with latent infection and in patients with active tuberculosis disease. CD8 T-cells recognizing epitopes from 6 different proteins of Mycobacterium tuberculosis were detected by tetramer staining. Intracellular cytokines staining for specific production of IFN-gamma and IL-2 was performed, complemented by phenotyping of memory markers on antigen-specific CD8 T-cells. The ex-vivo frequencies of tetramer-specific CD8 T-cells in tuberculous patients before therapy were lower than in subjects with latent infection, but increased at four months a…

MaleEpitopes T-Lymphocytelcsh:MedicineCD8-Positive T-LymphocytesEpitopeDiagnostic RadiologyInfectious Diseases/Bacterial InfectionsSpectrum Analysis TechniquesCellular typesCytotoxic T celllcsh:ScienceImage Cytometryeducation.field_of_studyMultidisciplinarybiologyRadiology and ImagingImmune cellsInfection ImagingMiddle AgedFlow CytometryActinobacteriaPhenotypeSpectrophotometryCytokinesWhite blood cellsFemaleCytophotometryResearch Articlemedicine.drugInterleukin 2Cell biologyBlood cellsTuberculosisImaging TechniquesImmunologyPopulationT cellsCytotoxic T cellsResearch and Analysis MethodsMycobacterium tuberculosisDiagnostic MedicineImmunology/Immunity to InfectionsHLA-A2 AntigenmedicineHumansTuberculosiseducationMedicine and health sciencesHLA-A AntigensBacteriaFluorimetrylcsh:ROrganismsBiology and Life SciencesMycobacterium tuberculosisbiology.organism_classificationmedicine.diseaseVirologyRetractionAnimal cellsImmunology/Immune ResponseImmunologyMycobacterium tuberculosis CD8 T cells Tuberculosis Latent Infectionlcsh:QCD8MycobacteriumPLoS ONE
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