Search results for "FIH1"

showing 2 items of 2 documents

MiR-24 induces chemotherapy resistance and hypoxic advantage in breast cancer

2017

// Giuseppina Roscigno 1, 2, * , Ilaria Puoti 1, 2, * , Immacolata Giordano 1 , Elvira Donnarumma 3 , Valentina Russo 1 , Alessandra Affinito 1 , Assunta Adamo 1 , Cristina Quintavalle 1, 2 , Matilde Todaro 4 , Maria dM Vivanco 5 , Gerolama Condorelli 1, 2 1 Department of Molecular Medicine and Medical Biotechnology, “Federico II” University of Naples, Naples, Italy 2 IEOS, CNR, Naples, Italy 3 IRCCS-SDN, Naples, Italy 4 Department of Pathobiology and Medical Biotechnology, University of Palermo, Palermo, Italy 5 CIC bioGUNE, Centre for Cooperative Research in Biosciences, Derio, Spain * These authors have contributed equally to the paper as first authors Correspondence to: Gerolama Condore…

0301 basic medicinecancer stem cellsApoptosisStem cell markermedicine.disease_causemicroRNAs Breast cancer Cancer stem cells BimL FIH1Mixed Function OxygenasesAntineoplastic Agent0302 clinical medicineCell MovementTumor Cells CulturedCell Self RenewalMixed Function OxygenaseBimLmicroRNACell HypoxiamicroRNAsGene Expression Regulation NeoplasticOncology030220 oncology & carcinogenesisNeoplastic Stem CellsFemaleBreast NeoplasmAdult stem cellHumanResearch PaperFIH1BimL; FIH1; breast cancer; cancer stem cells; microRNAsAntineoplastic AgentsBreast Neoplasms03 medical and health sciencesBreast cancerbreast cancerDownregulation and upregulationCancer stem cellmicroRNAmedicineBiomarkers TumorHumansCell Proliferationbusiness.industryCancer stem cellApoptosiRepressor Proteinmedicine.diseaseHypoxia-Inducible Factor 1 alpha SubunitMolecular medicineRepressor Proteins030104 developmental biologyDrug Resistance NeoplasmImmunologyCancer researchNeoplastic Stem CellCisplatinCarcinogenesisbusiness
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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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