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showing 10 items of 5975 documents

Cohesin-dependent regulation of gene expression during differentiation is lost in cohesin-mutated myeloid malignancies.

2019

Cohesin complex disruption alters gene expression, and cohesin mutations are common in myeloid neoplasia, suggesting a critical role in hematopoiesis. Here, we explore cohesin dynamics and regulation of hematopoietic stem cell homeostasis and differentiation. Cohesin binding increases at active regulatory elements only during erythroid differentiation. Prior binding of the repressive Ets transcription factor Etv6 predicts cohesin binding at these elements and Etv6 interacts with cohesin at chromatin. Depletion of cohesin severely impairs erythroid differentiation, particularly at Etv6-prebound loci, but augments self-renewal programs. Together with corroborative findings in acute myeloid le…

0301 basic medicineMaleCohesin complexChromosomal Proteins Non-HistoneImmunologyGene DosageCell Cycle ProteinsBiologyRegulatory Sequences Nucleic AcidBiochemistryHistones03 medical and health sciences0302 clinical medicineNeoplasmshemic and lymphatic diseasesCell Line TumorBiomarkers TumorHumansTranscription factorRegulation of gene expressionHematopoietic stem cell homeostasisMyeloid NeoplasiaMyeloproliferative DisordersCohesinProto-Oncogene Proteins c-etsGene Expression Regulation LeukemicETS transcription factor familyMyeloid leukemiafood and beveragesCell BiologyHematologyHematopoietic Stem CellsCell biologyChromatinHematopoiesisRepressor Proteins030104 developmental biologyGene Expression Regulation030220 oncology & carcinogenesisMutationFemalesense organsbiological phenomena cell phenomena and immunityNeoplasm GradingBLOOD CommentaryProtein BindingBlood
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Preferential uptake of polyunsaturated fatty acids by colorectal cancer cells

2020

AbstractAlthough a growing body of evidence suggests that colorectal cancer (CRC) is associated with alterations of fatty acid (FA) profiles in serum and tumor tissues, available data about polyunsaturated fatty acid (PUFA) content in CRC patients are inconclusive. Our study showed that CRC tissues contained more PUFAs than normal large intestinal mucosa. However, serum levels of PUFAs in CRC patients were lower than in healthy controls. To explain the mechanism of PUFA alterations in CRC, we measured FA uptake by the colon cancer cells and normal colon cells. The levels of PUFAs in colon cancer cell culture medium decreased significantly with incubation time, while no changes were observed…

0301 basic medicineMaleColorectal cancerlcsh:MedicineCell membrane0302 clinical medicinelipid metabolismIntestinal Mucosalcsh:SciencePhospholipidschemistry.chemical_classificationMultidisciplinaryChemistryfood and beveragespolyunsaturated fatty acidColon cancermedicine.anatomical_structure030220 oncology & carcinogenesisFatty Acids UnsaturatedFemalelipids (amino acids peptides and proteins)Colorectal NeoplasmsHT29 CellsPolyunsaturated fatty acidmedicine.medical_specialtyColoncolorectal cancerArticleIncubation period03 medical and health sciencesHT29 CellsInternal medicineCell Line TumormedicineHumansAgedCell ProliferationCell Membranelcsh:RFatty acidmedicine.diseaseeye diseasesdigestive system diseases030104 developmental biologyEndocrinologyCell cultureCancer cellLipidomicslcsh:Qsense organsScientific Reports
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Protective effects of polyphenol-rich infusions from carob (Ceratonia siliqua) leaves and cladodes of Opuntia ficus-indica against inflammation assoc…

2017

IF 2.759; International audience; In the present study, we have investigated the effects of polyphenol-rich infusions from carob leaves and OFI-cladodes on inflammation associated with obesity and dextran sulfate sodium (DSS)-induced ulcerative colitis in Swiss mice. In vitro studies revealed that aqueous extracts of carob leaves and OFI-cladodes exhibited anti-inflammatory properties marked by the inhibition of IL-6, TNF-α and nitric oxide (NO) production in lipopolysaccharide (LPS)-stimulated RAW 264.7 cells concomitant with NF-κβ nucleus translocation inhibition. For in vivo investigations, Swiss male mice were subjected to control or high fat diet (HFD). At the 8th week after the start …

0301 basic medicineMaleDSS colitisCarob leavesAdipose tissueInflammationBiologyPharmacologyDiet High-FatGalactansHFD obesityNitric oxideCell LineMannans03 medical and health scienceschemistry.chemical_compoundMicefoodSwiss micePlant GumsmedicineAnimalsObesityColitisAcute colitisPharmacologyInflammationIntestinal permeabilityOFI-CladodesDose-Response Relationship DrugDextran Sulfate[ SDV.SP.PHARMA ] Life Sciences [q-bio]/Pharmaceutical sciences/PharmacologyOpuntiaPolyphenolsFabaceaeGeneral Medicinemedicine.diseaseColitisUlcerative colitisfood.food3. Good healthPlant LeavesCeratonia siliquaAqueous extract030104 developmental biologychemistry[SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacologymedicine.symptomInflammation MediatorsBiomedicinepharmacotherapy = Biomedecinepharmacotherapie
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Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

2019

Genomic instability pathways in colorectal cancer (CRC) have been extensively studied, but the role of retrotransposition in colorectal carcinogenesis remains poorly understood. Although retrotransposons are usually repressed, they become active in several human cancers, in particular those of the gastrointestinal tract. Here we characterize retrotransposon insertions in 202 colorectal tumor whole genomes and investigate their associations with molecular and clinical characteristics. We find highly variable retrotransposon activity among tumors and identify recurrent insertions in 15 known cancer genes. In approximately 1% of the cases we identify insertions in APC, likely to be tumor-initi…

0301 basic medicineMaleGenome instabilityMICROSATELLITE INSTABILITYHYPOMETHYLATIONCarcinogenesisColorectal cancergenetic processestransposonitGeneral Physics and AstronomyRetrotransposon02 engineering and technologyKaplan-Meier EstimateGenome0302 clinical medicineCancer genomicslcsh:ScienceGenetics0303 health sciencesGastrointestinal tractMultidisciplinaryQISLAND METHYLATOR PHENOTYPEGastroenterologyfood and beveragesgenomiikkaMiddle Aged021001 nanoscience & nanotechnology3. Good healthGene Expression Regulation NeoplasticCpG sitesyöpägeenit030220 oncology & carcinogenesisDNA methylationAllelic ImbalanceWHOLE-GENOMEFemaleSVA ELEMENTS0210 nano-technologyColorectal NeoplasmsScience3122 Cancersinformation scienceGenomicssuolistosyövätBiologyGeneral Biochemistry Genetics and Molecular BiologyArticleGenomic Instability03 medical and health sciencesCell Line TumormedicineHumansAged030304 developmental biologySOMATIC L1 RETROTRANSPOSITIONCpG Island Methylator PhenotypeGene Expression ProfilingfungiMicrosatellite instabilityGeneral ChemistryDNA Methylationmedicine.diseaseGENEMutagenesis Insertional030104 developmental biologyLong Interspersed Nucleotide ElementsCPGhealth occupationsCancer researchlcsh:QCpG Islands3111 BiomedicineCaco-2 Cells
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Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene

2016

Human CMT2-FiPS4F1 cell line was generated from fibroblasts of a patient with Charcot-Marie-Tooth disease harbouring the following mutations in the GDAP1 gene in heterozygosis: p.Q163X/p.T288NfsX3. This patient did not present mutations in the PM22, MPZ or GJB genes. Human reprogramming factors OCT3/4, KLF4, SOX2 and C-MYC were delivered using a non-integrative methodology that involves the use of Sendai virus.

0301 basic medicineMaleHeterozygoteCellular differentiationCèl·lulesDNA Mutational AnalysisGenetic VectorsInduced Pluripotent Stem CellsKaryotypeNerve Tissue ProteinsBiologyPolymorphism Single NucleotideSendai virusCell Line03 medical and health sciencesKruppel-Like Factor 4stomatognathic systemCharcot-Marie-Tooth DiseaseHumansInduced pluripotent stem cellGeneTranscription factorMedicine(all)GeneticsBase SequenceHeterozygote advantageCell DifferentiationCell BiologyGeneral MedicineFibroblastsbiology.organism_classificationCellular ReprogrammingSendai virus030104 developmental biologyMicroscopy FluorescenceKLF4embryonic structuresSistema nerviós MalaltiesReprogrammingDevelopmental BiologyTranscription Factors
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Chronic skin inflammation leads to bone loss by IL-17-mediated inhibition of Wnt signaling in osteoblasts

2016

Item does not contain fulltext Inflammation has important roles in tissue regeneration, autoimmunity, and cancer. Different inflammatory stimuli can lead to bone loss by mechanisms that are not well understood. We show that skin inflammation induces bone loss in mice and humans. In psoriasis, one of the prototypic IL-17A-mediated inflammatory human skin diseases, low bone formation and bone loss correlated with increased serum IL-17A levels. Similarly, in two mouse models with chronic IL-17A-mediated skin inflammation,K14-IL17A(ind)andJunB(Deltaep), strong inhibition of bone formation was observed, different from classical inflammatory bone loss where osteoclast activation leads to bone deg…

0301 basic medicineMaleInflammationModels BiologicalOsteocytesBone resorptionEpithelium03 medical and health sciences0302 clinical medicineOsteoclastOsteogenesismedicineAnimalsHumansPsoriasisCell LineageBone ResorptionWnt Signaling PathwaySkin030203 arthritis & rheumatologyInflammationOsteoblastsChemistryInnate lymphoid cellInterleukin-17Wnt signaling pathwayOsteoblastGeneral MedicineMiddle AgedMice Inbred C57BL030104 developmental biologymedicine.anatomical_structureGene Expression RegulationOsteocyteImmunologyChronic DiseaseCancer researchFemaleInterleukin 17medicine.symptomInflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]Science Translational Medicine
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Moving Towards Precision Urologic Oncology: Targeting Enzalutamide-resistant Prostate Cancer and Mutated Forms of the Androgen Receptor Using the Nov…

2017

Abstract Darolutamide (ODM-201) is a novel androgen receptor (AR) antagonist with a chemical structure distinctly different from currently approved AR antagonists that targets both wild-type and mutated ligand binding domain variants to inhibit AR nuclear translocation. Here, we evaluate the activity of darolutamide in enzalutamide-resistant castration resistant prostate cancer (CRPC) as well as in AR mutants detected in patients after treatment with enzalutamide, abiraterone, or bicalutamide. Darolutamide significantly inhibited cell growth and AR transcriptional activity in enzalutamide-resistant MR49F cells in vitro, and led to decreased tumor volume and serum prostate-specific antigen l…

0301 basic medicineMaleModels MolecularTime FactorsTranscription GeneticProtein ConformationProstate cancerchemistry.chemical_compoundMice0302 clinical medicineMolecular Targeted TherapyTumor BurdenDarolutamideReceptors Androgen030220 oncology & carcinogenesisBenzamidesmedicine.drugSignal Transductionmedicine.medical_specialtyBicalutamideUrologyPartial agonist03 medical and health sciencesStructure-Activity RelationshipIn vivoInternal medicineCell Line TumorNitrilesPhenylthiohydantoinmedicineAndrogen Receptor AntagonistsEnzalutamideAnimalsHumansCell ProliferationDose-Response Relationship DrugCell growthbusiness.industryProstatic Neoplasmsmedicine.diseaseXenograft Model Antitumor AssaysAndrogen receptor030104 developmental biologyEndocrinologychemistryDrug Resistance NeoplasmMutationCancer researchPyrazolesbusinessEuropean urology
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Adherence to the Mediterranean diet is associated with better quality of life: data from the Osteoarthritis Initiative

2016

BACKGROUND The Mediterranean diet has positively influenced various medical conditions, but only a paucity of studies has considered the relation between the Mediterranean diet and quality of life (QOL) among people living in North America. OBJECTIVE We investigated whether a higher adherence to the Mediterranean diet (aMED) was associated with better QOL and decreased pain, stiffness, disability, and depression in a large cohort of North Americans from the Osteoarthritis Initiative. DESIGN aMED was evaluated through a validated Mediterranean diet score categorized into quintiles. Outcomes of interest were QOL [assessed with the 12-Item Short-Form Health Outcome Survey (SF-12)]; disability,…

0301 basic medicineMaleMultivariate analysisMediterranean dietCross-sectional studyMedicine (miscellaneous)MediterraneanLogistic regressionDiet MediterraneanBody Mass Index0302 clinical medicineMediterranean diet; depression; disability; pain; quality of life osteoarthritis initiativeQuality of lifeSurveys and Questionnaires030212 general & internal medicineNutrition and DieteticsCenter for Epidemiologic Studies Depression ScaleMiddle AgeddepressionFemalemedicine.medical_specialtyWOMACquality of life osteoarthritis initiativePaindepression Mediterranean diet quality of life osteoarthritis initiative pain disability03 medical and health sciencesNutritional Epidemiology and Public HealthMediterranean dietOsteoarthritismedicineHumansAged030109 nutrition & dieteticsbusiness.industryDietMediterranean diet; depression; disability; pain; quality of life osteoarthritis initiative; Aged; Body Mass Index; Cross-Sectional Studies; Energy Intake; Female; Humans; Linear Models; Logistic Models; Male; Middle Aged; Multivariate Analysis; North America; Osteoarthritis; Pain; Quality of Life; Socioeconomic Factors; Surveys and Questionnaires; Diet Mediterranean; Patient ComplianceCross-Sectional StudiesLogistic ModelsdisabilitySocioeconomic FactorsMultivariate AnalysisNorth AmericaPhysical therapyLinear ModelsQuality of LifePatient CompliancebusinessEnergy IntakeBody mass indexDemography
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Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

2020

Summary De novo germline mutations in the RNA helicase DDX3X account for 1%–3% of unexplained intellectual disability (ID) cases in females and are associated with autism, brain malformations, and epilepsy. Yet, the developmental and molecular mechanisms by which DDX3X mutations impair brain function are unknown. Here, we use human and mouse genetics and cell biological and biochemical approaches to elucidate mechanisms by which pathogenic DDX3X variants disrupt brain development. We report the largest clinical cohort to date with DDX3X mutations (n = 107), demonstrating a striking correlation between recurrent dominant missense mutations, polymicrogyria, and the most severe clinical outcom…

0301 basic medicineMaleNeurogenesisMutation MissenseBiologyPathogenesisDEAD-box RNA Helicases03 medical and health sciencesMice0302 clinical medicineGermline mutationStress granuleCell Line TumorPolymicrogyriamedicineMissense mutationAnimalsHumansCells CulturedGeneticsCerebral CortexGeneral NeuroscienceNeurogenesismedicine.diseaseRNA Helicase AMice Inbred C57BL030104 developmental biologyNeurodevelopmental DisordersRNAFemaleDDX3X030217 neurology & neurosurgeryNeuron
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Divergent roles of the Drosophila melanogaster globins.

2018

In contrast to long-held assumptions, the gene repertoire of most insects includes hemoglobins. Analyses of the genome of the fruitfly Drosophila melanogaster identified three distinct hemoglobin genes (glob1, glob2, and glob3). While glob1 is predominantly associated with the tracheal system and fat body, glob2 and glob3 are almost exclusively expressed in the testis. The physiological role of globins in Drosophila is uncertain. Here, we studied the functions of the three globins in a cell culture system. Drosophila Schneider 2 (S2) cells were stably transfected with each of the three globins and the empty vector as control. Under hypoxia (1% atmospheric O2), only glob1 overexpression enha…

0301 basic medicineMalePhysiologyIn silicoCell Line03 medical and health sciences0302 clinical medicineAnimalsGlobinGeneGeneticsbiologySchneider 2 cellsTransfectionbiology.organism_classificationCell biologyGlobinsOxygenOxidative Stress030104 developmental biologyDrosophila melanogasterCytoplasmCell cultureInsect ScienceInsect ProteinsFemaleDrosophila melanogaster030217 neurology & neurosurgeryJournal of insect physiology
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