Search results for "IMPR"

showing 10 items of 1334 documents

Blimp1 Prevents Methylation of Foxp3 and Loss of Regulatory T Cell Identity at Sites of Inflammation

2018

Summary Foxp3+ regulatory T (Treg) cells restrict immune pathology in inflamed tissues; however, an inflammatory environment presents a threat to Treg cell identity and function. Here, we establish a transcriptional signature of central nervous system (CNS) Treg cells that accumulate during experimental autoimmune encephalitis (EAE) and identify a pathway that maintains Treg cell function and identity during severe inflammation. This pathway is dependent on the transcriptional regulator Blimp1, which prevents downregulation of Foxp3 expression and “toxic” gain-of-function of Treg cells in the inflamed CNS. Blimp1 negatively regulates IL-6- and STAT3-dependent Dnmt3a expression and function …

0301 basic medicineMaleEncephalomyelitis Autoimmune ExperimentalBlimp1CNS2Regulatory T cellInflammationchemical and pharmacologic phenomenaBiologyT-Lymphocytes RegulatoryGeneral Biochemistry Genetics and Molecular BiologyArticleepigenetic regulationDNA Methyltransferase 3AEpigenesis Genetic03 medical and health sciencesGenomic ImprintingMice0302 clinical medicineImmune systemDownregulation and upregulationmedicineAnimalsEpigeneticsDNA (Cytosine-5-)-Methyltransferaseslcsh:QH301-705.5Regulation of gene expressionInterleukin-6FOXP3Forkhead Transcription FactorsDNA methyltransferaseshemic and immune systemsDNA Methylation3. Good healthCell biologyddc:Mice Inbred C57BL030104 developmental biologymedicine.anatomical_structureregulatory T cellslcsh:Biology (General)inflammationFoxp3DNA methylationFemalePositive Regulatory Domain I-Binding Factor 1medicine.symptomCNS030217 neurology & neurosurgeryCell Reports
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Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

2018

SUMMARY Maternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP4). The disease is only expressed when both dam and offspring are deletion homozygotes. RBP carries vitamin A (retinol) from hepatic stores to peripheral tissues, including the placenta and developing eye, where it is required to synthesize retinoic acid. Gestational vitamin A deficiency is a known risk factor for ocular birth defects. The K12del mutation disrupts RBP folding in vivo, decreasing its secretion from hepatocytes to serum. T…

0301 basic medicineMaleNon-Mendelian inheritanceProtein Foldingcongenital eye defectEye Diseasesgenetic structuresNATIVE DISULFIDE BONDSMedical PhysiologyRetinoic acidReproductive health and childbirth413 Veterinary scienceMicrophthalmiavitamin Achemistry.chemical_compoundPlasmaA-vitamiini2.1 Biological and endogenous factorsMicrophthalmosPrealbuminCRYSTAL-STRUCTUREAetiologyBase Pairinglcsh:QH301-705.5Sequence DeletionPediatricwhole genome sequencingVITAMIN-A-DEFICIENCYANOPHTHALMIAPenetrancePedigreemedicine.anatomical_structurePhenotypeFemalemedicine.medical_specialtyGenotypeENDOPLASMIC-RETICULUMGenes RecessiveMETABOLISMBiologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesDogscanine geneticsInternal medicinePlacentaRETINOL-BINDING-PROTEINGeneticsmedicineAnimalsHumansRecessiveMALFORMATIONSBIOCHEMICAL BASISAmino Acid SequenceAlleleEye Disease and Disorders of VisionNutritiongenome-wide association study030102 biochemistry & molecular biologywestern blottingMUTATIONSta1184RBP4maternal inheritancemedicine.diseaseRetinol-Binding ProteinsRetinol binding proteinnuclear magnetic resonance030104 developmental biologyEndocrinologychemistryGeneslcsh:Biology (General)microphthalmiaGenetic LociHela Cells1182 Biochemistry cell and molecular biologyCongenital Structural Anomalies3111 BiomedicineBiochemistry and Cell BiologyDigestive DiseasesGenomic imprintingRetinol-Binding Proteins PlasmaHeLa Cells
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Identification of accessory olfactory system and medial amygdala in the zebrafish

2017

AbstractZebrafish larvae imprint on visual and olfactory cues of their kin on day 5 and 6 postfertilization, respectively. Only imprinted (but not non-imprinted) larvae show strongly activated crypt (and some microvillous) cells demonstrated by pERK levels after subsequent exposure to kin odor. Here, we investigate the olfactory bulb of zebrafish larvae for activated neurons located at the sole glomerulus mdG2 which receives crypt cell input. Imprinted larvae show a significantly increased activation of olfactory bulb cells compared to non-imprinted larvae after exposure to kin odor. Surprisingly, pERK activated Orthopedia-positive cell numbers in the intermediate ventral telencephalic nucl…

0301 basic medicineOlfactory systemanimal structuresGene ExpressionSensory systemImprinting PsychologicalAmygdalaArticleOlfactory Receptor Neurons03 medical and health sciences0302 clinical medicinemedicineAnimalsPhosphorylationZebrafishZebrafishFluorescent DyesGlomerulus (olfaction)Microscopy ConfocalMitogen-Activated Protein Kinase 3MultidisciplinarybiologyfungiOlfactory PathwaysCarbocyaninesZebrafish ProteinsAmygdalabiology.organism_classificationOlfactory BulbOlfactory bulbCell biologySmell030104 developmental biologymedicine.anatomical_structureOdorHypothalamusLarvaOdorants030217 neurology & neurosurgeryTranscription FactorsScientific Reports
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How to deal with context? A context-mapping tool for quality and safety in nursing homes and homecare (SAFE-LEAD Context)

2019

Abstract Objective The objective of this paper is to develop a context-mapping tool (SAFE-LEAD Context) adapted to the nursing home and homecare setting. These two contexts represent a substantial variability, but studies focusing on the types and roles of contextual factors in quality and safety in these care settings are lacking. Results We conducted a step-wise collaborative design process consisting of mapping of key contextual factors as perceived by managers in Norwegian nursing homes and homecare, then created a draft tool discussed in a consortium workshop with co-researchers, and ran an international cross-country comparison. The SAFE-LEAD Context tool is inspired by the Consolidat…

0301 basic medicineProcess managementQuality managementComputer scienceCross-country comparisonPsychological interventionlcsh:MedicineGeneral Biochemistry Genetics and Molecular BiologyHomecareCare setting03 medical and health sciencesPatient safety0302 clinical medicineHumans030212 general & internal medicineCollaborative designContext mappingQuality improvementCooperative BehaviorGrading (education)lcsh:Science (General)lcsh:QH301-705.5Quality of Health Care:Medical disciplines: 700 [VDP]pasientsikkerhetNursing homelcsh:RGeneral MedicineHome Care ServiceshjemmesykepleieNursing HomesResearch NotePatient safety030104 developmental biologysykehjemlcsh:Biology (General)VDP::Medisinske Fag: 700::Helsefag: 800::Sykepleievitenskap: 808Implementation researchNursing homeslcsh:Q1-390BMC Research Notes
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KRAS mutations testing in non-small cell lung cancer: the role of Liquid biopsy in the basal setting

2020

In advanced stage non-small cell lung cancer (NSCLC) patients, Kirsten Rat Sarcoma Viral Oncogene Homolog (KRAS) testing may soon acquire a predictive significance to select patients for AMG510 treatment. Since tissue samples are not always available, liquid biopsy may represent a viable option for KRAS testing. Here, we review the last three years clinical practice performed on 194 plasma based liquid biopsies by next generation sequencing (NGS) SiRe(®) panel. In particular, 36 (18.6%) KRAS mutated cases were identified, with an overall median allelic frequency of 5.0% (ranging between 0.2% and 46.8%). No concomitant mutations were observed in the other NSCLC clinical relevant genes includ…

0301 basic medicinePulmonary and Respiratory MedicineAMG510Settore MED/06 - Oncologia MedicaViral Oncogenemedicine.disease_cause03 medical and health sciencesBasal (phylogenetics)0302 clinical medicineG12CMedicineEpidermal growth factor receptorLiquid biopsyLung cancerneoplasmsMutationbiologyLiquid biopsybusiness.industryKirsten Rat Sarcoma Viral Oncogene Homolog (KRAS)Review Article on Improving Outcomes in Lung Cancer Through Early Diagnosis and Smoking Cessationmedicine.diseaseBasal setting030104 developmental biologyNext generation sequencing (NGS)030220 oncology & carcinogenesisCancer researchbiology.proteinBiomarker (medicine)KRASLung cancerbusiness
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International consensus: What else can we do to improve diagnosis and therapeutic strategies in patients affected by autoimmune rheumatic diseases (r…

2017

Autoimmune diseases are a complex set of diseases characterized by immune system activation and, although many progresses have been done in the last 15 years, several unmet needs in the management of these patients may be still identified. Recently, a panel of international Experts, divided in different working groups according to their clinical and scientific expertise, were asked to identify, debate and formulate a list of key unmet needs within the field of rheumatology, serving as a roadmap for research as well as support for clinicians. After a systematic review of the literature, the results and the discussions from each working group were summarised in different statements. Due to th…

0301 basic medicineQuality managementEffectivenesslaw.inventionSystemic sclerosi0302 clinical medicineAntiphospholipid syndrome; Biologic drugs treatment; Effectiveness; Remission; Rheumatoid arthritis; Sjogren's syndrome; Spondyloarthritides; Systemic lupus erythematosus; Systemic sclerosis; Unmet needs; Immunology and Allergy; ImmunologylawAntiphospholipid syndromeImmunology and AllergyDisease management (health)ComputingMilieux_MISCELLANEOUSSpondyloarthritideClinical Trials as TopicEffectiveneDisease ManagementQuality Improvement3. Good healthSjogren's syndromeRheumatoid arthritis[SDV.IMM]Life Sciences [q-bio]/ImmunologySystemic sclerosisUnmet needmedicine.medical_specialtyRemissionImmunologyAntiphospholipid syndrome; Biologic drugs treatment; Effectiveness; Remission; Rheumatoid arthritis; Sjogren's syndrome; Spondyloarthritides; Systemic lupus erythematosus; Systemic sclerosis; Unmet needs;Systemic lupus erythematosuUnmet needs; rheumatoid arthritis; spondyloarthritides;Unmet needsNOAutoimmune Diseases03 medical and health sciencesSystemic lupus erythematosusAntiphospholipid syndromeInternal medicineRheumatic DiseasesmedicineHumansRheumatoid arthritisIntensive care medicineRheumatoid arthriti030203 arthritis & rheumatologyAutoimmune diseasetherapybusiness.industryAntiphospholipid syndrome; Biologic drugs treatment; Effectiveness; Remission; Rheumatoid arthritis; Sjogren's syndrome; Spondyloarthritides; Systemic lupus erythematosus; Systemic sclerosis; Unmet needs; Autoimmune Diseases; Clinical Trials as Topic; Disease Management; Humans; Quality Improvement; Rheumatic Diseases; Immunology and Allergy; Immunologymedicine.diseaseRheumatologyBiologic drugs treatment030104 developmental biologyautoimmune rheumatic diseasesPhysical therapyCLARITYSpondyloarthritidesbusinessWorking group
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Rpb1 foot mutations demonstrate a major role of Rpb4 in mRNA stability during stress situations in yeast.

2016

The RPB1 mutants in the foot region of RNA polymerase II affect the assembly of the complex by altering the correct association of both the Rpb6 and the Rpb4/7 dimer. Assembly defects alter both transcriptional activity as well as the amount of enzyme associated with genes. Here, we show that the global transcriptional analysis of foot mutants reveals the activation of an environmental stress response (ESR), which occurs at a permissive temperature under optimal growth conditions. Our data indicate that the ESR that occurs in foot mutants depends mostly on a global post-transcriptional regulation mechanism which, in turn, depends on Rpb4-mRNA imprinting. Under optimal growth conditions, we …

0301 basic medicineRNA StabilitySaccharomyces cerevisiae ProteinsTranscription GeneticRNA StabilityMutantSaccharomyces cerevisiaeBiophysicsRNA polymerase IISaccharomyces cerevisiaeBiochemistryMolecular Imprinting03 medical and health sciencesStructural BiologyTranscription (biology)Stress PhysiologicalGeneticsRNA MessengerImprinting (psychology)Molecular BiologyGeneGeneticsMessenger RNAbiologybiology.organism_classificationCell biology030104 developmental biologyMutationbiology.proteinRNA Polymerase IIBiochimica et biophysica acta
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TET3 prevents terminal differentiation of adult NSCs by a non-catalytic action at Snrpn.

2019

Ten-eleven-translocation (TET) proteins catalyze DNA hydroxylation, playing an important role in demethylation of DNA in mammals. Remarkably, although hydroxymethylation levels are high in the mouse brain, the potential role of TET proteins in adult neurogenesis is unknown. We show here that a non-catalytic action of TET3 is essentially required for the maintenance of the neural stem cell (NSC) pool in the adult subventricular zone (SVZ) niche by preventing premature differentiation of NSCs into non-neurogenic astrocytes. This occurs through direct binding of TET3 to the paternal transcribed allele of the imprinted gene Small nuclear ribonucleoprotein-associated polypeptide N (Snrpn), contr…

0301 basic medicineScienceCellular differentiationGeneral Physics and AstronomySubventricular zone02 engineering and technologyBiologyDNA-binding proteinArticleGeneral Biochemistry Genetics and Molecular BiologyCatalysissnRNP Core ProteinsDioxygenases03 medical and health sciencesMiceNeural Stem CellsLateral VentriclesProto-Oncogene ProteinsmedicineAnimalsRNA Small Interferinglcsh:SciencePsychological repressionreproductive and urinary physiologyMultidisciplinarySnRNP Core ProteinsQNeurogenesisBrainCell DifferentiationGeneral Chemistry021001 nanoscience & nanotechnologyNeural stem cellnervous system diseasesCell biologyDNA-Binding Proteins030104 developmental biologymedicine.anatomical_structurenervous systemAstrocyteslcsh:Qbiological phenomena cell phenomena and immunity0210 nano-technologyGenomic imprintingSignal Transduction
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A Weaning Reaction to Microbiota Is Required for Resistance to Immunopathologies in the Adult.

2019

International audience; Microbes colonize all body surfaces at birth and participate in the development of the immune system. In newborn mammals, the intestinal microbiota is first shaped by the dietary and immunological components of milk and then changes upon the introduction of solid food during weaning. Here, we explored the reactivity of the mouse intestinal immune system during the first weeks after birth and into adulthood. At weaning, the intestinal microbiota induced a vigorous immune response—a “weaning reaction”—that was programmed in time. Inhibition of the weaning reaction led to pathological imprinting and increased susceptibility to colitis, allergic inflammation, and cancer …

0301 basic medicinecolitis[SDV]Life Sciences [q-bio]short-chain fatty acidsImmunologyRetinoic acidTretinoinWeaningBiologyT-Lymphocytes Regulatoryregulatory T cellsAllergic inflammation03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineImmune systemRAR-related orphan receptor gammamicrobiotamedicineImmunology and AllergyWeaningAnimalsinflammatory pathologyColitisImprinting (psychology)Intestinal Mucosaneonatal periodNuclear Receptor Subfamily 1 Group F Member 3medicine.diseaseFatty Acids Volatile3. Good healthGastrointestinal Microbiome[SDV] Life Sciences [q-bio]Mice Inbred C57BL030104 developmental biologyInfectious DiseaseschemistryAnimals NewbornSolid food030220 oncology & carcinogenesisImmunologymucosal immunityImmunity
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Dlk1 dosage regulates hippocampal neurogenesis and cognition

2021

Significance Generation of new neurons occurs normally in the adult brain in two locations: the subventricular zone (SVZ) in the walls of the lateral ventricles and the subgranular zone (SGZ) in the dentate gyrus (DG) of the hippocampus. Neurogenesis in the adult hippocampus has been implicated in cognitive functions such as learning, memory, and recovery of stress response. Imprinted genes are highly prevalent in the brain and have adult and developmental important functions. Genetic deletion of the imprinted gene Dlk1 from either parental allele shows that DLK1 is a key mediator of quiescence in adult hippocampal NSCs. Additionally, Dlk1 is exquisitely dosage sensitive in the brain with p…

0301 basic medicinehippocampusHippocampusgene dosageBiologySubgranular zone03 medical and health sciencesMice0302 clinical medicineCognitionNeuroplasticitymedicineAnimalsEpigeneticsImprinting (psychology)AllelesMultidisciplinarybehaviorDentate gyrusNeurogenesisCalcium-Binding Proteinsneurogenesis genomic imprinting behavior gene dosage hippocampus424Biological Sciencesgenomic imprintingneurogenesis030104 developmental biologymedicine.anatomical_structurenervous systemGenomic imprintingNeuroscience030217 neurology & neurosurgeryNeuroscience
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