Search results for "P21"

showing 10 items of 131 documents

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

2011

Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…

AdultHeart Defects CongenitalMalemedicine.medical_specialtyAdolescentrasopathy.RASopathyShort statureProto-Oncogene MasArticleProto-Oncogene Proteins p21(ras)Young AdultGermline mutationSettore MED/38 - Pediatria Generale E SpecialisticaCostello syndromePregnancyInternal medicineNeoplasmsGeneticsMedicineHumansHRASChildGenetics (clinical)business.industryloose anagen hairCostello SyndromeMacrocephalyHypertrophic cardiomyopathyBrainInfantgenotype–phenotype correlationmedicine.diseaseDermatologyMagnetic Resonance ImagingMusculoskeletal AbnormalitiesEndocrinologyPhenotypeChild PreschoolFaceMutationFemalemedicine.symptombusinessMultifocal atrial tachycardiaAmerican journal of medical genetics. Part A
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Immunomic, genomic and transcriptomic characterization of CT26 colorectal carcinoma

2013

Background Tumor models are critical for our understanding of cancer and the development of cancer therapeutics. Here, we present an integrated map of the genome, transcriptome and immunome of an epithelial mouse tumor, the CT26 colon carcinoma cell line. Results We found that Kras is homozygously mutated at p.G12D, Apc and Tp53 are not mutated, and Cdkn2a is homozygously deleted. Proliferation and stem-cell markers, including Top2a, Birc5 (Survivin), Cldn6 and Mki67, are highly expressed while differentiation and top-crypt markers Muc2, Ms4a8a (MS4A8B) and Epcam are not. Myc, Trp53 (tp53), Mdm2, Hif1a, and Nras are highly expressed while Egfr and Flt1 are not. MHC class I but not MHC class…

Neuroblastoma RAS viral oncogene homologmedicine.disease_causeMajor histocompatibility complexPolymorphism Single NucleotideProto-Oncogene Proteins p21(ras)TranscriptomeMiceAntigenAntigens NeoplasmCDKN2ACell Line TumorMHC class ImedicineGeneticsAnimalsCancer modelsComputational immunologyCyclin-Dependent Kinase Inhibitor p16Mice Inbred BALB CMHC class IIbiologyCarcinomaHigh-Throughput Nucleotide SequencingSequence Analysis DNAColorectal cancerMolecular biologyColonic Neoplasmsbiology.proteinImmunotherapyKRASTranscriptomeResearch ArticleBiotechnologyBMC Genomics
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Targeting components of the alternative NHEJ pathway sensitizes KRAS mutant leukemic cells to chemotherapy.

2014

Abstract Activating KRAS mutations are detected in a substantial number of hematologic malignancies. In a murine T-cell acute lymphoblastic leukemia (T-ALL) model, we previously showed that expression of oncogenic Kras induced a premalignant state accompanied with an arrest in T-cell differentiation and acquisition of somatic Notch1 mutations. These findings prompted us to investigate whether the expression of oncogenic KRAS directly affects DNA damage repair. Applying divergent, but complementary, genetic approaches, we demonstrate that the expression of KRAS mutants is associated with increased expression of DNA ligase 3α, poly(ADP-ribose) polymerase 1 (PARP1), and X-ray repair cross-comp…

DNA RepairImmunologyAntineoplastic AgentsApoptosisMice TransgenicBiologymedicine.disease_causePrecursor T-Cell Lymphoblastic Leukemia-LymphomaBiochemistryProto-Oncogene Proteins p21(ras)chemistry.chemical_compoundXRCC1MicePARP1Transduction GeneticmedicineAnimalsHumansDNA Breaks Double-Strandedchemistry.chemical_classificationGeneticsDNA ligaseMutationGene knockdownCell BiologyHematologyImmunohistochemistryComet assayMice Inbred C57BLDisease Models AnimalchemistryMutationCancer researchKRASComet AssayDNABlood
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Ikaros-1 couples cell cycle arrest of late striatal precursors with neurogenesis of enkephalinergic neurons

2010

et al.

Cyclin-Dependent Kinase Inhibitor p21CalbindinsEnkephalinNeurogenesiseducationCentral nervous systemCell Cycle ProteinsStriatumSubstance PBiologyEfferent PathwaysCalbindinIkaros Transcription FactorMiceS100 Calcium Binding Protein GmedicineAnimalsProgenitor cellTranscription factorhealth care economics and organizationsHomeodomain ProteinsMice KnockoutNeuronsStem CellsGeneral NeuroscienceNeurogenesisCell DifferentiationEnkephalinsCell cycleCorpus StriatumGenes cdcMice Inbred C57BLmedicine.anatomical_structurenervous systemTrans-ActivatorsNeuroscienceTranscription FactorsThe Journal of Comparative Neurology
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MAD2 depletion triggers premature cellular senescence in human primary fibroblasts by activating a P53 pathway preventing aneuploid cells propagation.

2012

The spindle assembly checkpoint (SAC) is a cellular surveillance mechanism that ensures faithful chromosome segregation during mitosis and its failure can result in aneuploidy. Previously, it was suggested that reduction of the MAD2 gene, encoding a major component of the SAC, induced aneuploidy in human tumor cells. However, tumor cell lines contain multiple mutations that might affect or exacerbate the cellular response to Mad2 depletion. Thus, the scenario resulting by Mad2 depletion in primary human cells could be different and more complex that the one depicted so far. We used primary human fibroblasts (IMR90) and epithelial breast cells (MCF10A) to gain further insight on the effects …

Genome instabilityCyclin-Dependent Kinase Inhibitor p21Cell cycle checkpointMad2PhysiologyClinical BiochemistryMAD2 depletion Aneuploidy Premature cellular senescence TP53Cell Cycle ProteinsBiologyCyclin-dependent kinaseChromosome instabilityChromosomal InstabilityTumor Suppressor Protein p14ARFHumansGene SilencingRNA Small InterferingMitosisCells CulturedCellular SenescenceCell ProliferationCalcium-Binding ProteinsCell BiologyCell Cycle CheckpointsFibroblastsAneuploidybeta-GalactosidaseCell biologyRepressor ProteinsSpindle checkpointSettore BIO/18 - GeneticaGene Expression RegulationMad2 Proteinsbiology.proteinM Phase Cell Cycle CheckpointsTumor Suppressor Protein p53Cell agingSignal Transduction
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Caloric Restriction Mimetics Enhance Anticancer Immunosurveillance

2016

International audience; Caloric restriction mimetics (CRMs) mimic the biochemical effects of nutrient deprivation by reducing lysine acetylation of cellular proteins, thus triggering autophagy. Treatment with the CRM hydroxycitrate, an inhibitor of ATP citrate lyase, induced the depletion of regulatory T cells (which dampen anticancer immunity) from autophagy-competent, but not autophagy-deficient, mutant KRAS-induced lung cancers in mice, thereby improving anticancer immunosurveillance and reducing tumor mass. Short-term fasting or treatment with several chemically unrelated autophagy-inducing CRMs, including hydroxycitrate and spermidine, improved the inhibition of tumor growth by chemoth…

0301 basic medicineCancer ResearchATP citrate lyaseSpermidineBariatric SurgeryimmunosurveillanceT-Lymphocytes RegulatoryAutophagy-Related Protein 5[ SDV.CAN ] Life Sciences [q-bio]/Cancerchemistry.chemical_compoundMiceregulatory T cellCitrates3. Good healthImmunogenic Cell-DeathImmunosurveillancemedicine.anatomical_structureOncologyBiochemistryDifferentiationembryonic structuresImmunogenic cell deathIn-VivoHumanRegulatory T cell[SDV.CAN]Life Sciences [q-bio]/Cancer[SDV.BC]Life Sciences [q-bio]/Cellular BiologyBiologyDietary RestrictionNOProto-Oncogene Proteins p21(ras)03 medical and health sciencesMonitoring ImmunologicIn vivoCell Line TumormedicineAutophagyAnimalsHumanscancerChemotherapyBreast-CancerCaloric Restrictioncancer; chemotherapy immunosurveillance regulatory T cellAnimal[ SDV.BC ] Life Sciences [q-bio]/Cellular Biologyregulatory T&nbspAutophagyfungiNeoplasms ExperimentalcellSpermidineMethotrexate030104 developmental biologychemistryAcetylationMutationCancer researchCitrateNeoplasm Transplantation
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Integrative genomic and proteomic analyses identify targets for Lkb1 deficient metastatic lung tumors

2010

SummaryIn mice, Lkb1 deletion and activation of KrasG12D results in lung tumors with a high penetrance of lymph node and distant metastases. We analyzed these primary and metastatic de novo lung cancers with integrated genomic and proteomic profiles, and have identified gene and phosphoprotein signatures associated with Lkb1 loss and progression to invasive and metastatic lung tumors. These studies revealed that SRC is activated in Lkb1-deficient primary and metastatic lung tumors, and that the combined inhibition of SRC, PI3K, and MEK1/2 resulted in synergistic tumor regression. These studies demonstrate that integrated genomic and proteomic analyses can be used to identify signaling pathw…

ProteomicsCancer ResearchLung NeoplasmsMAP Kinase Kinase 2MAP Kinase Kinase 1CELLCYCLEAMP-Activated Protein Kinasesmedicine.disease_causeMice0302 clinical medicineAMP-Activated Protein Kinase KinasesCell MovementCarcinoma Non-Small-Cell LungEnzyme InhibitorsNeoplasm MetastasisPhosphorylationLymph nodePhosphoinositide-3 Kinase Inhibitors0303 health sciencesTOR Serine-Threonine KinasesIntracellular Signaling Peptides and ProteinsGenomicsCell cycleProtein-Tyrosine KinasesPenetrance3. Good healthUp-RegulationGene Expression Regulation Neoplasticmedicine.anatomical_structuresrc-Family KinasesOncologySIGNALING030220 oncology & carcinogenesisDrug Therapy CombinationFemaleRNA InterferenceKRASSignal TransductionMice NudeBiologyProtein Serine-Threonine KinasesArticleProto-Oncogene Proteins p21(ras)03 medical and health sciencesCell Line TumorProto-Oncogene ProteinsmedicineCell AdhesionAnimalsHumansEpithelial–mesenchymal transitionProtein Kinase Inhibitors030304 developmental biologyFocal AdhesionsGene Expression ProfilingCell BiologyXenograft Model Antitumor AssaysMice Mutant StrainsGene expression profilingFocal Adhesion Protein-Tyrosine KinasesCancer cellCell TransdifferentiationCancer researchras ProteinsCarcinogenesis
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Phase II study of necitumumab plus modified FOLFOX6 as first-line treatment in patients with locally advanced or metastatic colorectal cancer

2016

Background:This single-arm phase II study investigated the EGFR monoclonal antibody necitumumab plus modified FOLFOX6 (mFOLFOX6) in first-line treatment of locally advanced or metastatic colorectal cancer (mCRC).Methods:Patients received 800-mg intravenous necitumumab (day 1; 2-week cycles), followed by oxaliplatin 85 mg m -2, folinic acid 400 mg m -2, and 5-fluorouracil (400 mg m -2 bolus then 2400 mg m -2 over 46 h). Radiographic evaluation was performed every 8 weeks until progression. Primary endpoint was objective response rate.Results:Forty-four patients were enrolled and treated. Objective response rate was 63.6% (95% confidence interval 47.8-77.6); complete response was observed in …

0301 basic medicineMaleCancer ResearchOrganoplatinum CompoundsLeucovorinPhases of clinical researchmedicine.disease_causeGastroenterology0302 clinical medicineadvanced colorectal cancerAntineoplastic Combined Chemotherapy ProtocolsClinical endpointNeoplasm MetastasisNecitumumabModified FOLFOX6Aged 80 and overnecitumumabAntibodies MonoclonalMiddle AgedOxaliplatinTreatment OutcomeOncologyFluorouracil030220 oncology & carcinogenesisFemaleKRASFluorouracilColorectal Neoplasmsmedicine.drugAdultmedicine.medical_specialtyEGFRNeutropeniamodified FOLFOX6Antibodies Monoclonal HumanizedDisease-Free SurvivalProto-Oncogene Proteins p21(ras)03 medical and health sciencesFolinic acidInternal medicinemedicineKRASHumansAdvanced colorectal cancerAgedbusiness.industrymedicine.diseaseSurvival AnalysisSurgeryOxaliplatinCancérologie030104 developmental biologyClinical StudybusinessNecitumumabBritish Journal of Cancer
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Miten käsitteellistää ammatillista toimijuutta työssä?

2014

Artikkelissa tarkastellaan, miten toimijuus on ymmärretty monitieteisessä keskustelussa. Lisäksi pohditaan, miten ammatillista toimijuutta työssä tulisi käsitteellistää. peerReviewed

monitieteisyys [http://www.yso.fi/onto/yso/p11916]sosiokulttuuriset tekijät [http://www.yso.fi/onto/yso/p21870]monitieteisyyskäsitteenmuodostustyöelämä [http://www.yso.fi/onto/yso/p16262]General MedicineGeneral Chemistryammatillinen toimijuustoimijuuskäsityksettoimijuus [http://www.yso.fi/onto/yso/p2335]työ [http://www.yso.fi/onto/yso/p1810]käsitteellistäminenArtikkelittyöelämäontologia (filosofia) [http://www.yso.fi/onto/yso/p1055]
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Miltirone Induces G2/M Cell Cycle Arrest and Apoptosis in CCRF-CEM Acute Lymphoblastic Leukemia Cells

2015

Miltirone (1) is a diterpene quinone extracted from a well-known Chinese traditional herb (Salvia miltiorrhiza). We investigated the cytotoxic effects of miltirone toward sensitive and multidrug-resistant acute lymphoblastic leukemia cell lines. Miltirone inhibited multidrug-resistant P-glycoprotein (P-gp)-overexpressing CEM/ADR5000 cells better than drug-sensitive CCRF-CEM wild-type cells, a phenomenon termed collateral sensitivity. Flow cytometric analyses revealed that miltirone induced G2/M arrest and apoptosis. Furthermore, miltirone stimulated reactive oxygen species (ROS) generation and mitochondrial membrane potential (MMP) disruption, which in turn induced DNA damage and activation…

Cyclin-Dependent Kinase Inhibitor p21ATP Binding Cassette Transporter Subfamily BDNA damagePoly ADP ribose polymeraseCellPharmaceutical ScienceApoptosisSalvia miltiorrhizaAnalytical ChemistryDrug DiscoverymedicineHumansCyclin B1CaspaseMembrane Potential MitochondrialPharmacologyCyclin-dependent kinase 1Molecular StructurebiologyOrganic ChemistryPhenanthrenesPrecursor Cell Lymphoblastic Leukemia-LymphomaMolecular biologyG2 Phase Cell Cycle Checkpointsmedicine.anatomical_structureComplementary and alternative medicineApoptosisCell cultureCaspasesbiology.proteinMolecular MedicineReactive Oxygen SpeciesJournal of Natural Products
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