Search results for "knockdown"

showing 10 items of 178 documents

The

2016

ABSTRACT Members of the Junctophilin (JPH) protein family have emerged as key actors in all excitable cells, with crucial implications for human pathophysiology. In mammals, this family consists of four members (JPH1-JPH4) that are differentially expressed throughout excitable cells. The analysis of knockout mice lacking JPH subtypes has demonstrated their essential contribution to physiological functions in skeletal and cardiac muscles and in neurons. Moreover, mutations in the human JPH2 gene are associated with hypertrophic and dilated cardiomyopathies; mutations in JPH3 are responsible for the neurodegenerative Huntington's disease-like-2 (HDL2), whereas JPH1 acts as a genetic modifier …

NotchGenotypeCardiomyopathyGenes InsectAnimals Genetically ModifiedAnimalsDrosophila ProteinsAllelesMammalsNeuronsHuntingtin ProteinReceptors NotchMusclesMyocardiumMembrane ProteinsReproducibility of ResultsDrosHuntington's diseaseDisease Models AnimalDrosophila melanogasterPhenotypeGene Knockdown TechniquesMutationNerve DegenerationPhotoreceptor Cells InvertebrateRNA InterferenceJunctophilinDrosophilaTrinucleotide Repeat ExpansionSignal TransductionResearch ArticleDisease modelsmechanisms
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PO-182 The upregulation of EPDR1 is related to tumour invasiveness in a cohort of localised colorectal cancer patients

2018

Introduction Colorectal cancer (CRC) represents a relevant public health problem. Despite new therapeutic advances, prognosis of patients diagnosed with advanced disease is still poor. The identification of new markers involved in the mechanisms of invasiveness represents a priority in order to better understand cancer development and generate new therapeutic targets. We describe here the possible role of EPDR1, a gene not yet well characterised, which encodes a protein related to ependymins, a family of piscine transmembrane proteins involved in cell adhesion. To evaluate the role of EPDR1, a translational investigation was planned to explore the consequences of the upregulation of EPDR1 i…

OncologyCancer Researchmedicine.medical_specialtyGene knockdownNecrosisCell growthColorectal cancerbusiness.industrymedicine.diseaseOncologyDownregulation and upregulationInternal medicineCohortmedicineGene silencingmedicine.symptombusinessGrading (tumors)ESMO Open
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Cellular Uptake of siRNA-Loaded Nanocarriers to Knockdown PD-L1: Strategies to Improve T-cell Functions

2020

T-cells are a type of lymphocyte (a subtype of white blood cells) that play a central role in cell-mediated immunity. Currently, adoptive T-cell immunotherapy is being developed to destroy cancer cells. In this therapy, T-cells are harvested from a patient&rsquo

PD-L1Small interfering RNAT-LymphocytesLymphocytemedicine.medical_treatmentT cellImmunotherapy AdoptiveB7-H1 AntigenArticlemedicineHumansNanotechnologyRNA Small Interferinglcsh:QH301-705.5Gene knockdownnanocarriersChemistryT-cellsCancercellular uptakeGeneral MedicineImmunotherapymedicine.diseasemedicine.anatomical_structurelcsh:Biology (General)siRNACancer cellCancer researchNanocarriersadoptive immunotherapyCells
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Drosophila DJ-1 mutants are sensitive to oxidative stress and show reduced lifespan and motor deficits.

2007

Parkinson's disease (PD) is a progressive movement disorder caused by the selective and massive loss of dopaminergic neurons (DA) in the substantia nigra pars compacta (SNc). DJ-1 loss-of-function mutations are involved in inherited early-onset PD forms and result in dysfunction of the oxidative stress response. In mice models, DJ-1 loss provokes sensitivity to oxidative insults but does not produce neurodegeneration. Similar results have been found when analyzing Drosophila mutants for the DJ-1 orthologous genes, DJ-1alpha and DJ-1beta. Here, we report the analysis of two new mutations for the Drosophila DJ-1 genes. Both ubiquitous induction of DJ-1alpha knockdown by RNAi and loss of funct…

Parkinson's diseaseDopamineProtein Deglycase DJ-1Substantia nigraNerve Tissue ProteinsBiologyMotor Activitymedicine.disease_causeLife ExpectancyGeneticsmedicineAnimalsDrosophila ProteinsLoss functionNeuronsGene knockdownPars compactaNeurodegenerationAge FactorsGeneral MedicineAnatomymedicine.diseaseCell biologyOxidative Stressmedicine.anatomical_structureMutationRNA InterferenceNeuronOxidative stressGene
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Differential Gene Expression of Medullary Thyroid Carcinoma Reveals Specific Markers Associated with Genetic Conditions

2013

Maliszewska, Agnieszka et al.

Pathologymedicine.medical_specialtyendocrine system diseasesInheritance PatternsMultiple endocrine neoplasia type 2ApoptosisBiologyGermlinePathology and Forensic MedicineThyroid carcinomaAntigens CDCell Line TumormedicineBiomarkers TumorGene silencingCluster AnalysisHumansGenetic Predisposition to DiseaseAC133 AntigenGene SilencingThyroid NeoplasmsRNA Small InterferingGlycoproteinsRegulation of gene expressionTissue microarrayReverse Transcriptase Polymerase Chain ReactionGene Expression ProfilingWnt signaling pathwaymedicine.diseaseImmunohistochemistryCarcinoma NeuroendocrineGene expression profilingGene Expression Regulation NeoplasticGene Knockdown TechniquesCancer researchPeptides
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Inhibiting proliferation in KB cancer cells by RNA interference-mediated knockdown of nicotinamide N-methyltransferase expression.

2011

The enzyme Nicotinamide N-methyltransferase (NNMT) catalyzes the methylation of nicotinamide and other pyridines, playing a pivotal role in the biotransformation and detoxification of many drugs and xenobiotic compounds. Several tumours have been associated with abnormal NNMT expression, however its role in tumour development remains largely unknown. In this study we investigated expression levels of Nicotinamide N-methyltransferase in a cancer cell line and we evaluated the effect of shRNA-mediated silencing of NNMT on cell proliferation. Cancer cells were examined for NNMT expression by semiquantitative RT-PCR and Western blot analysis. A HPLC-based catalytic assay was performed to asses…

PharmacologyGene knockdownCell growthReverse Transcriptase Polymerase Chain ReactionImmunologyBlotting WesternNNMTNicotinamide N-methyltransferaseTransfectionBiologytumor cellMolecular biologyKB CellsSmall hairpin RNABlotGene expressionCancer cellsilencingNicotinamide N-Methyltransferasegene expressionImmunology and AllergyHumanscell growthRNA InterferenceCell Proliferation
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α-Mannosyl-Functionalized Cationic Nanohydrogel Particles for Targeted Gene Knockdown in Immunosuppressive Macrophages

2019

Immunosuppressive M2 macrophages govern the immunophathogenic micromilieu in many severe diseases including cancer or fibrosis, thus, their re-polarization through RNA interference is a promising concept to support combinatorial therapies. For targeted siRNA delivery, however, safe and stable carriers are required that manage cell specific transport to M2 macrophages. Here, siRNA-loaded cationic nanogels are reported with α-mannosyl decorated surfaces that target and modify M2 macrophages selectively. Via amphiphilic precursor block copolymers bearing one single α-mannosyl moiety at their chain end mannosylated cationic nanohydrogel particles (ManNP) were obtained of 20 nm diameter determin…

Polymers and PlasticsCellBioengineering02 engineering and technology010402 general chemistry01 natural sciencesBiomaterialsMiceFibrosisRNA interferenceCationsmedicineMaterials ChemistryAnimalsHumansMannanImmunosuppression TherapyGene knockdownbiologyChemistryMacrophagesHydrogels3T3 CellsHep G2 Cells021001 nanoscience & nanotechnologymedicine.diseaseIn vitro0104 chemical sciencesCell biologymedicine.anatomical_structureRAW 264.7 CellsConcanavalin AGene Knockdown Techniquesbiology.proteinNanoparticles0210 nano-technologyMannoseMannose receptorBiotechnologyMacromolecular Bioscience
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Size-dependent knockdown potential of siRNA-loaded cationic nanohydrogel particles.

2014

To overcome the poor pharmacokinetic conditions of short double-stranded RNA molecules in RNA interference therapies, cationic nanohydrogel particles can be considered as alternative safe and stable carriers for oligonucleotide delivery. For understanding key parameters during this process, two different types of well-defined cationic nanohydrogel particles were synthesized, which provided nearly identical physicochemical properties with regards to their material composition and resulting siRNA loading characteristics. Yet, according to the manufacturing process using amphiphilic reactive ester block copolymers of pentafluorophenyl methacrylate (PFPMA) and tri(ethylene glycol)methyl ether m…

Polymers and PlasticsNanogelsBioengineeringEtherMethacrylateProtein Structure SecondaryPolyethylene GlycolsBiomaterialschemistry.chemical_compoundCationsAmphiphilePolymer chemistryMaterials ChemistryCopolymerHumansPolyethyleneimineParticle SizeRNA Small InterferingRNA Double-StrandedOligonucleotideCationic polymerizationHydrogelschemistryChemical engineeringGene Knockdown TechniquesEthylene glycolNanogelHeLa CellsBiomacromolecules
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SiRNA-mediated in vivo gene knockdown by acid-degradable cationic nanohydrogel particles

2017

Cationic nanohydrogel particles have become an attractive tool for systemic siRNA delivery, but improvement of their in vivo tolerance is desirable, especially to prevent potential long term side effects by tissue and cellular accumulation. Here, we designed novel ketal cross-linked cationic nanohydrogel particles that were assessed for reduced tissue accumulation and robust siRNA delivery in vitro and in vivo. An oligo-amine cross-linker equipped with a ketal moiety in its core was synthesized and applied to nanohydrogel cross-linking of self-assembled reactive ester block copolymers in DMSO. The resulting acid-sensitive cationic nanoparticles spontaneously disassembled over time in acidic…

PolymersPharmaceutical ScienceSpermineNanoparticleNanotechnology02 engineering and technology010402 general chemistry01 natural sciencesMicechemistry.chemical_compoundDynamic light scatteringIn vivoFibrosisCationsmedicineAnimalsRNA Small InterferingMice Inbred BALB CGene knockdownChemistryCationic polymerizationHydrogels3T3 Cells021001 nanoscience & nanotechnologymedicine.diseaseFibrosisIn vitro0104 chemical sciencesRAW 264.7 CellsLiverGene Knockdown TechniquesBiophysicsNanoparticlesFemaleRNA Interference0210 nano-technologyJournal of Controlled Release
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HSP70, the Key to Account for Erythroid Tropism of Diamond-Blackfan Anemia?

2015

Abstract Diamond-Blackfan anemia (DBA) was the first ribosomopathy identified and is characterized by a moderate to severe, usually macrocytic aregenerative anemia associated with congenital malformations in 50% of the DBA cases. This congenital rare erythroblastopenia is due to a blockade in erythroid differentiation between the BFU-e and CFU-e stages. The link between a haploinsufficiency in a ribosomal protein (RP) gene that now encompass 15 different RP genes and the erythroid defect is still to be fully defined. Recently, mutations in TSR2 and GATA1 genes have been identified in a few DBA families. The GATA1 gene encodes for the major transcription factor critical for erythropoiesis an…

Programmed cell deathGene knockdownRibosomopathyImmunologyGATA1Cell BiologyHematologyGene mutationBiologymedicine.diseaseBiochemistryhemic and lymphatic diseasesmedicineCancer researchErythropoiesisDiamond–Blackfan anemiaHaploinsufficiencyBlood
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