Search results for " Real-Time Polymerase Chain Reaction"

showing 10 items of 19 documents

Increased expression of interleukin-22 in patients with giant cell arteritis

2017

Objectives GCA is characterized by arterial remodelling driven by inflammation. IL-22 is an attractive cytokine which acts at the crosstalk between immune and stromal cells. We hypothesized that IL-22 might be induced in GCA and might be involved in disease pathogenesis. Methods Patients subjected to temporal artery biopsies (TABs) naive from therapy were enrolled: 27 biopsy-proven GCA, 8 biopsy-negative GCA, 21 biopsy-negative non-GCA patients. Expression of IL-22 was determined in TABs by immunohystochemistry, in plasma by ELISA, in peripheral blood mononuclear cells by real-time PCR and flow cytometry. Effects of IL-22 on viability and gene expression of primary cultures obtained from TA…

0301 basic medicineCD4-Positive T-LymphocytesMalearterial remodelling; autoimmunity; giant cell arteritis; inflammation; interleukin-22; pathogenesismedicine.medical_treatmentMessengerInterleukin 220302 clinical medicineimmune system diseasesarterial remodelling; autoimmunity; giant cell arteritis; inflammation; interleukin-22; pathogenesis; Aged; Aged 80 and over; CD4-Positive T-Lymphocytes; Calcium Ionophores; Carcinogens; Case-Control Studies; Enzyme-Linked Immunosorbent Assay; Female; Flow Cytometry; Giant Cell Arteritis; Humans; Immunohistochemistry; In Vitro Techniques; Interleukins; Ionomycin; Leukocytes Mononuclear; Male; RNA Messenger; Real-Time Polymerase Chain Reaction; Temporal Arteries; Tetradecanoylphorbol Acetate80 and overLeukocytesPharmacology (medical)skin and connective tissue diseasesAged 80 and overIonomycinpathogenesisautoimmunityInterleukinFlow CytometryImmunohistochemistryTemporal ArteriesCalcium IonophoresCytokinecardiovascular systemTetradecanoylphorbol AcetateFemalemedicine.symptomgiant cell arteritiStromal cellMononuclearGiant Cell ArteritisInflammationEnzyme-Linked Immunosorbent AssayIn Vitro TechniquesReal-Time Polymerase Chain ReactionPeripheral blood mononuclear cellarterial remodelling03 medical and health sciencesRheumatologymedicineHumansViability assayRNA Messengercardiovascular diseasesAged030203 arthritis & rheumatologybusiness.industryInterleukinsinterleukin-22medicine.diseaseGiant cell arteritis030104 developmental biologyinflammationCase-Control StudiesImmunologyCarcinogensLeukocytes MononuclearRNAbusiness
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Residual tumor micro-foci and overwhelming regulatory T lymphocyte infiltration are the causes of bladder cancer recurrence

2016

Bladder cancer has an unexplained, high recurrence rate. Causes of recurrence might include the presence of sporadic tumor micro-foci in the residual urothelial tissue after surgery associated with an inverted ratio between intratumoral effector and regulatory T cell subsets. Hence, surgical specimens of both tumors and autologous, macroscopically/histologically free-of-tumor tissues were collected from 28 and 20 patients affected by bladder or renal cancer, respectively. The frequencies of effector (IFNγ+ and IL17+ T cells) and regulatory (CD4+CD25hiCD127lo and CD8+CD28-CD127loCD39+ Treg) T cell subpopulations among tumor infiltrating lymphocytes were analyzed by immunofluorescence, while …

0301 basic medicinePathologyNeoplasm ResidualT-LymphocytesMessengerImmunoenzyme TechniqueFluorescent Antibody TechniqueCD8-Positive T-LymphocytesT-Lymphocytes RegulatoryImmunoenzyme TechniquesTh10302 clinical medicineLymphocytesReverse Transcriptase Polymerase Chain ReactionResearch Paper: ImmunologyPrognosisRegulatoryBladder cancer; Immune response; Immunity; Immunology and microbiology section; Mage; Th1; Th17; Tumor infiltrating lymphocytes; CD8-Positive T-Lymphocytes; Case-Control Studies; Fluorescent Antibody Technique; Follow-Up Studies; Humans; Immunoenzyme Techniques; Lymphocytes Tumor-Infiltrating; Melanoma-Specific Antigens; Neoplasm Grading; Neoplasm Proteins; Neoplasm Recurrence Local; Neoplasm Staging; Neoplasm Residual; Prognosis; RNA Messenger; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; T-Lymphocytes Regulatory; Urinary Bladder Neoplasms; OncologyNeoplasm Proteinsmedicine.anatomical_structureLocalOncologytumor infiltrating lymphocytesResidual030220 oncology & carcinogenesisImmunology and Microbiology Sectionbladder cancerTh17Case-Control StudieMelanoma-Specific AntigenMelanoma-Specific AntigensHumanmedicine.medical_specialtyPrognosiRegulatory T cellT cellReal-Time Polymerase Chain ReactionMAGEFollow-Up StudieNeoplasm Protein03 medical and health sciencesLymphocytes Tumor-InfiltratingImmune systemAntigenmedicineHumansTumor-InfiltratingRNA MessengerImmune responseNeoplasm StagingBladder cancerTumor-infiltrating lymphocytesbusiness.industryImmunityCD8-Positive T-LymphocyteT lymphocytemedicine.diseaseNeoplasm Recurrence030104 developmental biologyUrinary Bladder NeoplasmsCase-Control StudiesNeoplasmRNANeoplasm GradingNeoplasm Recurrence Localtumor infiltrating lymphocytebusinessCD8Follow-Up StudiesOncotarget
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Cabozantinib targets bone microenvironment modulating human osteoclast and osteoblast functions

2016

Cabozantinib, a c-MET and vascular endothelial growth factor receptor 2 inhibitor, demonstrated to prolong progression free survival and improve skeletal disease-related endpoints in castration-resistant prostate cancer and in metastatic renal carcinoma. Our purpose is to investigate the direct effect of cabozantinib on bone microenvironment using a total human model of primary osteoclasts and osteoblasts.Osteoclasts were differentiated from monocytes isolated from healthy donors; osteoblasts were derived from human mesenchymal stem cells obtained from bone fragments of orthopedic surgery patients. Osteoclast activity was evaluated by tartrate resistant acid phosphatase (TRAP) staining and …

0301 basic medicinePyridines -- pharmacologyPyridinesPyridineImmunoenzyme TechniqueOsteoclastsApoptosisRANK Ligand -- genetics -- metabolismImmunoenzyme Techniqueschemistry.chemical_compoundBone Resorption -- drug therapy -- metabolism -- pathology0302 clinical medicineOsteogenesisCathepsin KMedicineAnilidesAnilides -- pharmacologyOsteoprotegerin -- genetics -- metabolismOsteoclasts -- cytology -- drug effects -- physiologyHuman primary cellCells CulturedTartrate-resistant acid phosphataseReceptor Activator of Nuclear Factor-kappa B -- genetics -- metabolismbiologyProto-Oncogene Proteins c-met -- genetics -- metabolismReceptor Activator of Nuclear Factor-kappa BReverse Transcriptase Polymerase Chain ReactionOsteoblastOsteogenesiOsteoblastCell DifferentiationSciences bio-médicales et agricolesProto-Oncogene Proteins c-metOsteoblasts -- cytology -- drug effects -- physiologymedicine.anatomical_structureCell Differentiation -- drug effectsOncologyRANKL030220 oncology & carcinogenesishuman primary cellsOsteoclastosteoprotegerin (OPG)bone microenvironmentHumanResearch Papermusculoskeletal diseasesmedicine.medical_specialtyCabozantinibBlotting WesternOsteogenesis -- drug effects -- physiologyReal-Time Polymerase Chain ReactionBone resorption03 medical and health sciencesOsteoprotegerinOsteoclastcabozantinibInternal medicineHumansRNA MessengerBone ResorptionCell ProliferationOsteoblastsbusiness.industryRANK LigandAnilideOsteoprotegerinApoptosiBone microenvironment; Cabozantinib; Human primary cells; Osteoprotegerin (OPG); Receptor activator of nuclear factor-kb ligand (RANKL); Anilides; Apoptosis; Blotting Western; Bone Resorption; Cell Differentiation; Cell Proliferation; Cells Cultured; Humans; Immunoenzyme Techniques; Osteoblasts; Osteoclasts; Osteogenesis; Osteoprotegerin; Proto-Oncogene Proteins c-met; Pyridines; RANK Ligand; RNA Messenger; Real-Time Polymerase Chain Reaction; Receptor Activator of Nuclear Factor-kappa B; Reverse Transcriptase Polymerase Chain Reaction; Oncology030104 developmental biologyEndocrinologychemistrybiology.proteinbusinessRNA Messenger -- geneticsreceptor activator of nuclear factor-kb ligand (RANKL)
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Cytomegalovirus infection management in solid organ transplant recipients across European centers in the time of molecular diagnostics: An ESGICH sur…

2017

Background Scant information is available about how transplant centers are managing their use of quantitative molecular testing (QNAT) assays for active cytomegalovirus (CMV) infection monitoring in solid organ transplant (SOT) recipients. The current study was aimed at gathering information on current practices in the management of CMV infection across European centers in the era of molecular testing assays. Methods A questionnaire-based cross-sectional survey study was conducted by the European Study Group of Infections in Immunocompromised Hosts (ESGICH) of the Society of Clinical Microbiology and Infectious Diseases (ESCMID). The invitation and a weekly reminder with a personal link to …

0301 basic medicinecytomegalovirus; solid organ transplantation; survey.cytomegalovirus ; solid organ transplantation ; surveyCross-sectional studyCytomegalovirusTransplantsPractice Patterns030230 surgeryOrgan transplantationlaw.invention0302 clinical medicinePostoperative Complicationslaw03.02. Klinikai orvostanViralPractice Patterns Physicians'solid organ transplantationPolymerase chain reactionViral LoadEuropeInfectious DiseasesCytomegalovirus InfectionsPractice Guidelines as Topiccytomegalovirus; solid organ transplantation; survey; Antibiotic Prophylaxis; Antiviral Agents; Cross-Sectional Studies; Cytomegalovirus; Cytomegalovirus Infections; DNA Viral; Europe; Guideline Adherence; Health Care Surveys; Humans; Immunocompromised Host; Immunosuppression; Organ Transplantation; Postoperative Complications; Practice Guidelines as Topic; Practice Patterns Physicians'; Real-Time Polymerase Chain Reaction; Transplant Recipients; Transplants; Viral LoadGuideline Adherencecytomegalovirus; solid organ transplantation; survey; Antibiotic Prophylaxis; Antiviral Agents; Cross-Sectional Studies; Cytomegalovirus; Cytomegalovirus Infections; DNA Viral; Europe; Guideline Adherence; Health Care Surveys; Humans; Immunocompromised Host; Immunosuppression; Organ Transplantation; Postoperative Complications; Practice Guidelines as Topic; Practice Patterns Physicians'; Real-Time Polymerase Chain Reaction; Transplant Recipients; Transplants; Viral Load; Transplantation; Infectious Diseasesmedicine.medical_specialty030106 microbiologyCongenital cytomegalovirus infectionReal-Time Polymerase Chain ReactionAntiviral Agents03 medical and health sciencesImmunocompromised HostmedicineHumanssurveyIntensive care medicineImmunosuppression TherapyTransplantationPhysicians'business.industryDNAOrgan TransplantationAntibiotic Prophylaxismedicine.diseaseMolecular diagnosticsTransplant RecipientsCytomegalovirus infectionTransplantationcytomegalovirus; solid organ transplantation; survey; Transplantation; Infectious DiseasesCross-Sectional StudiesCytomegalovirus; Solid organ transplantation; Survey; Transplantation; Infectious DiseasesHealth Care SurveysDNA ViralImmunologySolid organ transplantationbusinessImmunosuppression
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HBV DNA suppression and HBsAg clearance in HBeAg negative chronic hepatitis B patients on lamivudine therapy for over 5 years

2012

Background & Aims In long-term responder patients, it is unclear whether lamivudine (LAM) monotherapy should be continued or switched to a high-genetic-barrier analogue. This study aims at assessing LAM efficacy over a 5-year period and the residual risk of drug resistance. The rate of HBsAg clearance and LAM long-term safety profile were also evaluated. Methods One hundred and ninety-one patients with chronic HBeAg-negative hepatitis B successfully treated with LAM monotherapy for at least 5years were included. Biochemical and virological tests were assessed every 3months in all patients and HBsAg quantification was performed in 45/191. Reverse-transcriptase (RT) region was directly sequen…

AdultMaleHBsAgmedicine.medical_specialtyChronic hepatitis B; Lamivudine; Nucleos(t)ide analogues; Viral resistance; Adult; Aged; Antiviral Agents; DNA Viral; Female; Hepatitis B Surface Antigens; Hepatitis B e Antigens; Hepatitis B Chronic; Humans; Lamivudine; Male; Middle Aged; Real-Time Polymerase Chain Reaction; Time Factors; HepatologyTime FactorsCirrhosisDrug resistanceReal-Time Polymerase Chain Reactionmedicine.disease_causeChronic hepatitis BAntiviral AgentsGastroenterologyHepatitis B ChronicInternal medicineHBVmedicineHumansViralHepatitis B e AntigensChronicAgedHepatitis B virusHepatitis B Surface AntigensHepatologybusiness.industryViral resistanceLamivudineDNAMiddle AgedHepatitis BHepatitis Bmedicine.diseaseNucleos(t)ide analoguesResidual riskHBeAgLamivudineDNA ViralImmunologyFemalebusinessmedicine.drug
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Decreasing dietary linoleic acid promotes long chain omega-3 fatty acid incorporation into rat retina and modifies gene expression

2011

International audience; Age-related macular degeneration (AMD) may be partially prevented by dietary habits privileging the consumption of ω3 long chain polyunsaturated fatty acids (ω3s) while lowering linoleic acid (LA) intake. The present study aimed to document whether following these epidemiological guidelines would enrich the neurosensory retina and RPE with ω3s and modulate gene expression in the neurosensory retina. Rat progenitors and pups were fed with diets containing low or high LA, and low or high ω3s. After scotopic single flash and 8-Hz-Flicker electroretinography, rat pups were euthanized at adulthood. The fatty acid profile of the neurosensory retina, RPE, liver, adipose tis…

CD36 AntigensMaleMESH : RNA MessengerMESH: 5-Lipoxygenase-Activating ProteinsMESH : Receptors LDLMESH: Electroretinography0302 clinical medicineMESH: Fatty Acids Omega-3MESH: AnimalsMESH : Retinal Ganglion Cellschemistry.chemical_classification0303 health sciencesMESH : Gene Expression RegulationMESH : ElectroretinographyMESH: RetinaMESH: Chromatography GasMESH: Dietary Fats Unsaturateddocosahexaenoic acidpolyunsaturated fatty acidSensory Systems3. Good healthnutritionMESH: Photic StimulationAdipose TissueMESH: Adipose Tissuemedicine.medical_specialtyChromatography Gasmacular degenerationLinoleic acidMESH : Arachidonate 12-LipoxygenaseArachidonate 12-LipoxygenaseMESH : Adipose TissueMESH: Arachidonate 12-Lipoxygenasepufa03 medical and health sciencesMESH : Dietary Fats UnsaturatedlipidElectroretinographyRats Long-EvansRNA MessengerMESH: Linoleic AcidMESH: Antigens CD36MESH : RetinaFatty acidMESH: Retinal Ganglion Cellseye diseasesOphthalmologyEndocrinologychemistryMESH: Receptors LDL030221 ophthalmology & optometryATP-Binding Cassette Transportersn 3MESH: FemalePhotic StimulationMESH: LiverRetinal Ganglion CellsretinaMESH : 5-Lipoxygenase-Activating Proteinsgenetic structures[ SDV.AEN ] Life Sciences [q-bio]/Food and Nutritionretinal pigment epitheliumelectroretinogramMESH : Photic StimulationAdipose tissueangiogenesischemistry.chemical_compoundMESH : FemaleMESH : Rats Long-Evans2. Zero hungermedicine.diagnostic_testMESH : RatsMESH: Real-Time Polymerase Chain ReactionMESH: Gene Expression RegulationMESH : Antigens CD36medicine.anatomical_structureLiverALOX12BiochemistryMESH: ATP-Binding Cassette TransportersFemaleATP Binding Cassette Transporter 1Polyunsaturated fatty acidMESH : Fatty Acids Omega-3MESH: RatsbrainMESH : Male5-Lipoxygenase-Activating ProteinsMESH : Real-Time Polymerase Chain Reactionrhesus monkeyBiologyReal-Time Polymerase Chain ReactionMESH : Chromatography GasLinoleic AcidCellular and Molecular NeuroscienceDietary Fats UnsaturatedMESH : Linoleic AcidMESH: Rats Long-EvansInternal medicineFatty Acids Omega-3medicineAnimalsMESH : ATP-Binding Cassette TransportersOmega 3 fatty acidMESH: RNA Messenger030304 developmental biologydeficient dietRetinal pigment epitheliumMESH : LiverMESH: MaleRatsGene Expression RegulationReceptors LDLgene expressionMESH : Animalssense organs[SDV.AEN]Life Sciences [q-bio]/Food and NutritionElectroretinographyExperimental Eye Research
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Non-small cell lung cancer (NSCLC), EGFR downstream pathway activation and TKI targeted therapies sensitivity: Effect of the plasma membrane-associat…

2017

Adenocarcinoma of Non-Small Cell Lung Cancer (NSCLC) is a severe disease. Patients carrying EGFR mutations may benefit from EGFR targeted therapies (e.g.: gefitinib). Recently, it has been shown that sialidase NEU3 directly interacts and regulates EGFR. In this work, we investigate the effect of sialidase NEU3 overexpression on EGFR pathways activation and EGFR targeted therapies sensitivity, in a series of lung cancer cell lines. NEU3 overexpression, forced after transfection, does not affect NSCLC cell viability. We demonstrate that NEU3 overexpression stimulates the ERK pathway but this activation is completely abolished by gefitinib treatment. The Akt pathway is also hyper-activated upo…

Genetics and Molecular Biology (all)0301 basic medicineOncologyMAPK/ERK pathwayLung NeoplasmsColorectal cancerCell Membraneslcsh:Medicinenon-small cell lung cancer (NSCLC)BiochemistryLung and Intrathoracic TumorsAntineoplastic Agent0302 clinical medicineProtein-Tyrosine KinaseCarcinoma Non-Small-Cell LungMedicine and Health SciencesPost-Translational ModificationPhosphorylationNon-Small-Cell Lunglcsh:ScienceTumorMultidisciplinaryBlottingGefitinibTransfectionProtein-Tyrosine KinasesBIO/10 - BIOCHIMICAErbB ReceptorsOncology030220 oncology & carcinogenesisAdenocarcinomaPhosphorylationHyperexpression TechniquesElectrophoresis Polyacrylamide GelCellular Structures and OrganellesWesternReceptorHumanmedicine.drugSignal TransductionResearch ArticleElectrophoresismedicine.medical_specialtyBlotting WesternNeuraminidaseAntineoplastic AgentsReal-Time Polymerase Chain ReactionTransfectionResearch and Analysis MethodsCell Line03 medical and health sciencesGefitinibInternal medicineCell Line TumormedicineGeneticsGene Expression and Vector TechniquesHumansPoint MutationMolecular Biology TechniquesMolecular BiologyPI3K/AKT/mTOR pathwayColorectal CancerMolecular Biology Assays and Analysis TechniquesPolyacrylamide GelBiochemistry Genetics and Molecular Biology (all)Epidermal Growth Factorbusiness.industryCarcinomalcsh:RCell MembraneQuinazolineCancers and NeoplasmsBiology and Life SciencesProteinsCell Biologymedicine.diseaserespiratory tract diseasesNon-Small Cell Lung CancerLung Neoplasm030104 developmental biologyAgricultural and Biological Sciences (all)MutationQuinazolineslcsh:QReceptor Epidermal Growth FactorAntineoplastic Agents; Blotting Western; Carcinoma Non-Small-Cell Lung; Cell Line Tumor; Cell Membrane; Electrophoresis Polyacrylamide Gel; Humans; Lung Neoplasms; Neuraminidase; Protein-Tyrosine Kinases; Quinazolines; Real-Time Polymerase Chain Reaction; Receptor Epidermal Growth Factor; Signal Transduction; Biochemistry Genetics and Molecular Biology (all); Agricultural and Biological Sciences (all)businessPloS one
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Emergence of tularemia in France: paradigm of the Burgundy region

2011

International audience; We report three consecutive cases of tularemia occurring in Burgundy, France, a region previously considered not endemic for tularemia. The patients presented with varied and unspecific clinical manifestations. The epidemiological circumstances, especially the mode of contamination, were not particularly suggestive of tularemia. Serological diagnosis was delayed in two cases because of the lack of significant antibody titers at the time of admission. In contrast, a diagnosis could readily be obtained in all three cases by detection of Francisella tularensis DNA from clinical samples using PCR-based methods. These cases highlight the increased incidence and geographic…

MaleEpidemiologyMESH: Lymph NodesCommunicable Diseases EmergingSerologyTularemia0302 clinical medicineMESH: Early DiagnosisEpidemiologyDiagnosisMESH: Communicable Diseases Emerging030212 general & internal medicineMESH: DoxycyclineFrancisella tularensisTularemia0303 health sciencesMESH: TularemiaMESH: Middle AgedbiologyMESH: Real-Time Polymerase Chain ReactionIncidence (epidemiology)[SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE]Antibody titerGeneral Medicinerespiratory systemMiddle Aged3. Good healthAnti-Bacterial AgentsInfectious DiseasesFrancisella tularensis DNADoxycyclineFemaleFranceFluoroquinolonesAdultDNA BacterialMicrobiology (medical)medicine.medical_specialtyReal-Time Polymerase Chain Reactioncomplex mixtures03 medical and health sciencesMESH: Francisella tularensisMESH: Anti-Bacterial AgentsmedicineHumansFrancisella tularensisMESH: Humans030306 microbiologyMESH: AdultMESH: Fluoroquinolonesbiology.organism_classificationmedicine.diseasebacterial infections and mycosesVirologyMESH: DNA BacterialMESH: MaleMESH: FranceEarly DiagnosisbacteriaLymph NodesMESH: FemaleReal-time PCRInternational Journal of Infectious Diseases
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Prognostic significance of K-Ras mutation rate in metastatic colorectal cancer patients

2015

// Bruno Vincenzi 1 , Chiara Cremolini 2 , Andrea Sartore-Bianchi 3 , Antonio Russo 4 , Francesco Mannavola 5 , Giuseppe Perrone 6 , Francesco Pantano 1 , Fotios Loupakis 2 , Daniele Rossini 2 , Elena Ongaro 7 , Erica Bonazzina 3 , Emanuela Dell’Aquila 1 , Marco Imperatori 1 , Alice Zoccoli 1 , Giuseppe Bronte 4 , Giovanna De Maglio 7 , Gabriella Fontanini 8 , Clara Natoli 9 , Alfredo Falcone 2 , Daniele Santini 1 , Andrea Onetti-Muda 6 , Salvatore Siena 3 , Giuseppe Tonini 1 and Giuseppe Aprile 7 1 Department of Medical Oncology, Campus Bio-Medico University of Rome, Rome, Italy 2 Azienda Ospedaliero-Universitaria Pisana, Istituto Toscano Tumori, Pisa, Italy 3 Niguarda Cancer Center, Osped…

MalePathologyColorectal cancerSettore MED/06 - Oncologia MedicaColorectal NeoplasmRetrospective StudieAntineoplastic Combined Chemotherapy ProtocolsTumor Cells Culturededucation.field_of_studyUnivariate analysisBevacizumab; Colorectal cancer; K-Ras; Mutation rate; Prognosis; OncologyLiver NeoplasmsMiddle AgedPrognosisBevacizumabSurvival RateOncologyLiver NeoplasmCohortFemaleK-Ras; mutation rate; colorectal cancer; bevacizumab; prognosisColorectal NeoplasmsK-RasResearch Papermedicine.drugHumanmedicine.medical_specialtyBevacizumabPrognosiMutation ratePopulationBevacizumab; Colorectal cancer; K-Ras; Mutation rate; Prognosis; Antineoplastic Combined Chemotherapy Protocols; Colorectal Neoplasms; Female; Follow-Up Studies; Humans; Liver Neoplasms; Male; Middle Aged; Mutation; Neoplasm Staging; Prognosis; Proto-Oncogene Proteins p21(ras); Real-Time Polymerase Chain Reaction; Retrospective Studies; Survival Rate; Tumor Cells Cultured; OncologyReal-Time Polymerase Chain ReactionFollow-Up StudieProto-Oncogene Proteins p21(ras)Internal medicinemedicineHumanseducationSurvival rateRetrospective StudiesNeoplasm StagingAntineoplastic Combined Chemotherapy Protocolbusiness.industryCancerRetrospective cohort studymedicine.diseaseColorectal cancerK-RaMutationbusinessFollow-Up Studies
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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

2014

The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemica…

Models MolecularInterferon-Induced Helicase IFIH1Molecular Sequence DataHDE NEU PEDElectrophoretic Mobility Shift AssayBiologymedicine.disease_causeNervous System MalformationsReal-Time Polymerase Chain ReactionArticleDEAD-box RNA HelicasesImmune systemAutoimmune Diseases of the Nervous SystemDownregulation and upregulationAnalysis of Variance; Autoimmune Diseases of the Nervous System; Base Sequence; DEAD-box RNA Helicases; Electrophoretic Mobility Shift Assay; Exome; HEK293 Cells; Humans; Interferon Type I; Microsatellite Repeats; Molecular Sequence Data; Mutation; Nervous System Malformations; Real-Time Polymerase Chain Reaction; Sequence Analysis DNA; Signal Transduction; Spectrum Analysis; Models Molecular; Phenotype; GeneticsModelsInterferonGeneticsmedicineHumansExomeMutationAnalysis of VarianceBase SequenceSpectrum AnalysisMolecularRNAMDA5DNASequence Analysis DNAMolecular biology3. Good healthInterferon Tipo IHEK293 CellsPhenotypeInterferon Type IMutationCancer researchSignal transductionSequence AnalysisInterferon type Imedicine.drugMicrosatellite RepeatsSignal TransductionNature genetics
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