Search results for "Ofili"

showing 10 items of 996 documents

Contribution of allelic imbalance to colorectal cancer

2018

Point mutations in cancer have been extensively studied but chromosomal gains and losses have been more challenging to interpret due to their unspecific nature. Here we examine high-resolution allelic imbalance (AI) landscape in 1699 colorectal cancers, 256 of which have been whole-genome sequenced (WGSed). The imbalances pinpoint 38 genes as plausible AI targets based on previous knowledge. Unbiased CRISPR-Cas9 knockout and activation screens identified in total 79 genes within AI peaks regulating cell growth. Genetic and functional data implicate loss of TP53 as a sufficient driver of AI. The WGS highlights an influence of copy number aberrations on the rate of detected somatic point muta…

0301 basic medicineDenmarkLoss of HeterozygosityGeneral Physics and AstronomyAllelic ImbalanceLoss of heterozygosityGenotypeddc:576.5RNA Small Interferinglcsh:ScienceRNA Small Interfering/geneticsGeneticsMultidisciplinaryQGenomicsPhenotype3. Good healthGENOMEPhenotypesyöpägeenitAllelic ImbalanceTumor Suppressor Protein p53/geneticsColorectal NeoplasmsChromosomes Human Pair 8GENESDNA Copy Number VariationsGenotypeScienceTranscription Factors/geneticsGenomicscolorectal cancerBiologyArticleGeneral Biochemistry Genetics and Molecular BiologyProto-Oncogene Proteins p21(ras)Proto-Oncogene Proteins p21(ras)/genetics03 medical and health sciencesmedicineHumansPoint MutationGenetic Predisposition to DiseaseGenepaksusuolisyöpäChromosome AberrationsWhole Genome SequencingHUMAN-COLONGene Expression ProfilingPoint mutationCancerGeneral Chemistrymedicine.diseaseColorectal Neoplasms/geneticsENHANCERS030104 developmental biologyCELLSlcsh:Q3111 BiomedicineTumor Suppressor Protein p53CRISPR-Cas SystemsmutaatiotTranscription FactorsMicrosatellite Repeats
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Methylmercury-induced developmental toxicity is associated with oxidative stress and cofilin phosphorylation. Cellular and human studies

2017

Environmental exposure to methylmercury (MeHg) during development is of concern because it is easily incorporated in children’s body both pre- and post-natal, it acts at several levels of neural pathways (mitochondria, cytoskeleton, neurotransmission) and it causes behavioral impairment in child. We evaluated the effects of prolonged exposure to 10–600 nM MeHg on primary cultures of mouse cortical (CCN) and of cerebellar granule cells (CGC) during their differentiation period. In addition, it was studied if prenatal MeHg exposure correlated with altered antioxidant defenses and cofilin phosphorylation in human placentas (n = 12) from the INMA cohort (Spain). Exposure to MeHg for 9 days in v…

0301 basic medicineDevelopmental DisabilitiesGlutathione reductaseCiencias de la SaludMitochondrionMETHYLMERCURYToxicologymedicine.disease_causeProtein CarbonylationMiceCytosolMITOCHONDRIAPregnancyPhosphorylationOXIDATIVE STRESSCells Culturedchemistry.chemical_classificationNeuronsbiologyGeneral NeuroscienceGlutathione peroxidaseCOFILINBrainMethylmercuryEnvironmental exposureCofilinMethylmercury CompoundsMitochondrial Proton-Translocating ATPasesGlutathioneCell biologyMitochondriaGlutathione ReductaseActin Depolymerizing FactorsCofilinPhosphorylationFemaleHuman placentaactinCortactinCIENCIAS MÉDICAS Y DE LA SALUDmacromolecular substancesACTIN03 medical and health sciencesCultured neuronsmedicineAnimalsHumansCULTURED NEURONSGlutathione PeroxidaseSalud OcupacionalHUMAN PLACENTAMolecular biology030104 developmental biologychemistryAnimals NewbornOxidative stressbiology.proteinOxidative stress
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Chemical Proteomic Analysis of Serine Hydrolase Activity in Niemann-Pick Type C Mouse Brain

2018

The endocannabinoid system (ECS) is considered to be an endogenous protective system in various neurodegenerative diseases. Niemann-Pick type C (NPC) is a neurodegenerative disease in which the role of the ECS has not been studied yet. Most of the endocannabinoid enzymes are serine hydrolases, which can be studied using activity-based protein profiling (ABPP). Here, we report the serine hydrolase activity in brain proteomes of a NPC mouse model as measured by ABPP. Two ABPP methods are used: a gel-based method and a chemical proteomics method. The activities of the following endocannabinoid enzymes were quantified: diacylglycerol lipase (DAGL) α, α/β-hydrolase domain-containing protein 4, α…

0301 basic medicineDiacylglycerol lipasehydrolaseslcsh:RC321-571Serine03 medical and health sciences0302 clinical medicineThioesterasechemical proteomicsFatty acid amide hydrolaseSerine hydrolase activityendocannabinoid systemlcsh:Neurosciences. Biological psychiatry. NeuropsychiatryNiemann-Pick type COriginal Researchactivity-based protein profilingbiologyChemistryGeneral NeuroscienceActivity-based proteomicsSerine hydrolaseMonoacylglycerol lipase030104 developmental biologyBiochemistrybiology.protein030217 neurology & neurosurgeryNeuroscience
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Identification of novel drug resistance mechanisms by genomic and transcriptomic profiling of glioblastoma cells with mutation-activated EGFR.

2021

Abstract Aims Epidermal growth factor receptor (EGFR) is not only involved in carcinogenesis, but also in chemoresistance. We characterized U87.MGΔEGFR glioblastoma cells with constitutively active EGFR due to deletion at the ligand binding domain in terms of gene expression profiling and chromosomal aberrations. Wild-type U87.MG cells served as control. Materials and methods RNA sequencing and network analyses (Ingenuity Pathway Analysis) were performed to identify novel drug resistance mechanisms related to expression of mutation activated EGFR. Chromosomal aberrations were characterized by multicolor fluorescence in situ hybridization (mFISH) and array comparative genomic hybridization (…

0301 basic medicineDown-RegulationBiologymedicine.disease_cause030226 pharmacology & pharmacyGeneral Biochemistry Genetics and Molecular BiologyTranscriptome03 medical and health sciences0302 clinical medicineCell Line TumormedicineHumansGene Regulatory NetworksProtein Interaction MapsGeneral Pharmacology Toxicology and PharmaceuticsGeneTranscription factorMetaphaseChromosome AberrationsMutationmedicine.diagnostic_testBrain NeoplasmsGene Expression ProfilingGeneral MedicineGenomicsUp-RegulationGene expression profilingErbB ReceptorsGene Expression Regulation Neoplastic030104 developmental biologyDrug Resistance NeoplasmMutationCancer researchCarcinogenesisGlioblastomaTranscriptomeComparative genomic hybridizationFluorescence in situ hybridizationSignal TransductionLife sciences
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Response to metals treatment of Fra1, a member of the AP-1 transcription factor family, in P. lividus sea urchin embryos

2018

Abstract Lithium (Li), Nickel (Ni), and Zinc (Zn) are metals normally present in the seawater, although they can have adverse effects on the marine ecosystem at high concentrations by interfering with many biological processes. These metals are toxic for sea urchin embryos, affecting their morphology and developmental pathways. In particular, they perturb differently the correct organization of the embryonic axes (animal-vegetal, dorso-ventral): Li is a vegetalizing agent and Ni disrupts the dorso-ventral axis, while Zn has an animalizing effect. To deeply address the response of Paracentrotus lividus embryos to these metals, we studied the expression profiling of Pl-Fra transcription facto…

0301 basic medicineEmbryo NonmammalianProto-oncogeneSea UrchinSettore BIO/05 - ZoologiaAquatic ScienceOceanographyParacentrotus lividus03 medical and health sciencesAnimalsMetallothioneinTranscription factorbiologyCell growthChemistryAnimalMetalStress responseEmbryoGeneral MedicineLeucin zipperBlastulabiology.organism_classificationPollutionCell biologyGene expression profilingTranscription Factor AP-1AP-1 transcription factor030104 developmental biologyHeavy metalGene Expression RegulationMetalsSea UrchinsParacentrotusParacentrotuMetallothioneinWater Pollutants Chemical
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Retene causes multifunctional transcriptomic changes in the heart of rainbow trout (Oncorhynchus mykiss) embryos

2015

Fish are particularly sensitive to aryl hydrocarbon receptor (AhR)-mediated developmental toxicity. The molecular mechanisms behind these adverse effects have remained largely unresolved in salmonids, and for AhR-agonistic polycyclic aromatic hydrocarbons (PAHs). This study explored the cardiac transcriptome of rainbow trout (Oncorhynchus mykiss) eleuteroembryos exposed to retene, an AhR-agonistic PAH. The embryos were exposed to retene (nominal concentration 32 μg/L) and control, their hearts were collected before, at and after the onset of the visible signs of developmental toxicity, and transcriptomic changes were studied by microarray analysis. Retene up- or down-regulated 122 genes. Th…

0301 basic medicineEmbryo Nonmammaliananimal structuresHealth Toxicology and Mutagenesista1172Developmental toxicityProtein metabolismdioxin-like toxicityEmbryonic Development010501 environmental sciencesToxicologyBioinformatics01 natural sciencesTranscriptome03 medical and health scienceschemistry.chemical_compoundfish embryotranscriptomicsAnimalsOligonucleotide Array Sequence Analysis0105 earth and related environmental sciencesPharmacologyRetenebiologyGene Expression Profilingta1184ta1182Gene Expression Regulation DevelopmentalHeartLipid metabolismGeneral MedicinePhenanthrenesAryl hydrocarbon receptorCell biology030104 developmental biologychemistryOncorhynchus mykissbiology.proteinta1181Rainbow troutSignal transduction
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Genetic and Epigenetic Characteristics of Inflammatory Bowel Disease-Associated Colorectal Cancer.

2021

doi: 10.1053/j.gastro.2021.04.042 Background & Aims Inflammatory bowel disease (IBD) is a chronic, relapsing inflammatory disorder associated with an elevated risk of colorectal cancer (CRC). IBD-associated CRC (IBD-CRC) may represent a distinct pathway of tumorigenesis compared to sporadic CRC (sCRC). Our aim was to comprehensively characterize IBD-associated tumorigenesis integrating multiple high-throughput approaches, and to compare the results with in-house data sets from sCRCs. Methods Whole-genome sequencing, single nucleotide polymorphism arrays, RNA sequencing, genome-wide methylation analysis, and immunohistochemistry were performed using fresh-frozen and formalin-fixed tissue sam…

0301 basic medicineEpigenomicsMaleColorectal cancerDNA Mutational AnalysisPHENOTYPEmedicine.disease_causeEpigenesis GeneticPATHWAY0302 clinical medicineMUTATIONAL PROCESSESDRIVERSTumor MicroenvironmentFinlandOligonucleotide Array Sequence AnalysisAged 80 and overDNA methylationMETHYLATIONGastroenterologyWnt signaling pathwaytulehdukselliset suolistosairaudetHigh-Throughput Nucleotide SequencingMiddle AgedDNA-metylaatio3. Good healthCell Transformation NeoplasticepigenetiikkaDNA methylationCONSENSUS MOLECULAR SUBTYPES030211 gastroenterology & hepatologyFemaleconsensus molecular subtypeKRASgeneettiset tekijätAdultEpithelial-Mesenchymal TransitionINTESTINAL INFLAMMATIONConsensus Molecular Subtype3122 Cancersepithelial-mesenchymal transitioncolorectal cancersuolistosyövätBiology3121 Internal medicinePolymorphism Single Nucleotide03 medical and health sciencesinflammatory bowel diseaseCOLONAXIN2medicineBiomarkers TumorHumansEpithelial–mesenchymal transitionEpigeneticsneoplasmsSIGNATURESAgedNeoplasm StagingColorectal CancerHepatologyWhole Genome SequencingSequence Analysis RNAGene Expression ProfilingInflammatory Bowel DiseaseDNA Methylationmedicine.diseaseInflammatory Bowel DiseasesEVOLUTIONdigestive system diseases030104 developmental biologyMutationCancer research3111 BiomedicineColitis-Associated NeoplasmsNeoplasm GradingCarcinogenesisTranscriptomeGastroenterology
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Genome wide DNA methylation profiling identifies specific epigenetic features in high-risk cutaneous squamous cell carcinoma

2019

ABSTRACTCutaneous squamous cell carcinoma (cSCC) is the second most common skin cancer. Although most cSCCs have good prognosis, a subgroup of high-risk cSCC has a higher frequency of recurrence and mortality. Therefore, the identification of molecular risk factors associated with this aggressive subtype is of major interest. In this work we carried out a global-scale approach to investigate the DNA-methylation profile in patients at different stages, from premalignant actinic keratosis to low-risk invasive and high-risk non-metastatic and metastatic cSCC. The results showed massive non-sequential changes in DNA-methylome and identified a minimal methylation signature that discriminates bet…

0301 basic medicineEpigenomicsMaleSkin NeoplasmsDiseaseBiochemistryActinic KeratosisGenomeEpigenesis Genetic0302 clinical medicineRisk FactorsMedicine and Health SciencesSkin TumorsAged 80 and overMultidisciplinaryDNA methylationQRSquamous Cell CarcinomasMethylationMiddle AgedPrognosisChromatinNucleic acidsGene Expression Regulation NeoplasticKeratosis ActinicOncology030220 oncology & carcinogenesisDNA methylationCarcinoma Squamous CellDisease ProgressionMedicineEpigeneticsFemaleDNA modificationChromatin modificationResearch ArticleChromosome biologyCell biologyCutaneous squamous cell carcinomaKeratosisScienceDermatologyBiologyCarcinomas03 medical and health sciencesDiagnostic MedicineCarcinomaGeneticsCancer Detection and DiagnosismedicineHumansEpigeneticsAgedNeoplasm StagingTreatment GuidelinesHealth Care PolicyBiology and life sciencesActinic keratosisCancers and NeoplasmsDNAmedicine.diseaseDNA FingerprintingDna methylation profilingHealth Care030104 developmental biologyCancer researchGene expressionNeoplasm Recurrence LocalSkin cancerGenome-Wide Association Study
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The exonuclease Xrn1 activates transcription and translation of mRNAs encoding membrane proteins

2019

The highly conserved 5’–3’ exonuclease Xrn1 regulates gene expression in eukaryotes by coupling nuclear DNA transcription to cytosolic mRNA decay. By integrating transcriptome-wide analyses of translation with biochemical and functional studies, we demonstrate an unanticipated regulatory role of Xrn1 in protein synthesis. Xrn1 promotes translation of a specific group of transcripts encoding membrane proteins. Xrn1-dependence for translation is linked to poor structural RNA contexts for translation initiation, is mediated by interactions with components of the translation initiation machinery and correlates with an Xrn1-dependence for mRNA localization at the endoplasmic reticulum, the trans…

0301 basic medicineExonucleaseCell biologySaccharomyces cerevisiae ProteinsTranscription GeneticMolecular biologyScienceRNA StabilityGenetic VectorsGeneral Physics and AstronomyGene Expression02 engineering and technologySaccharomyces cerevisiaeEndoplasmic ReticulumGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesEukaryotic translationTranscription (biology)Gene Expression Regulation FungalGene expression540 ChemistryProtein biosynthesisRNA MessengerCloning Molecularlcsh:ScienceRegulation of gene expressionMultidisciplinarybiologyChemistryGene Expression ProfilingQMembrane ProteinsTranslation (biology)General Chemistry021001 nanoscience & nanotechnologyRibosomeRecombinant Proteins3. Good healthCell biology030104 developmental biologyMembrane proteinProtein BiosynthesisExoribonucleasesbiology.protein570 Life sciences; biologylcsh:Q0210 nano-technologySignal Transduction
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iDamIDseq and iDEAR: an improved method and computational pipeline to profile chromatin-binding proteins

2016

DNA adenine methyltransferase identification (DamID) has emerged as an alternative method to profile protein-DNA interactions; however, critical issues limit its widespread applicability. Here, we present iDamIDseq, a protocol that improves specificity and sensitivity by inverting the steps DpnI-DpnII and adding steps that involve a phosphatase and exonuclease. To determine genome-wide protein-DNA interactions efficiently, we present the analysis tool iDEAR (iDamIDseq Enrichment Analysis with R). The combination of DamID and iDEAR permits the establishment of consistent profiles for transcription factors, even in transient assays, as we exemplify using the small teleost medaka (Oryzias lati…

0301 basic medicineExonucleaseSite-Specific DNA-Methyltransferase (Adenine-Specific)Embryo NonmammalianOryziasOryziasComputational biologyBiology03 medical and health scienceschemistry.chemical_compoundTechniques and ResourcesTranscriptional regulationDatabases GeneticProtein Interaction MappingTranscriptional regulationAnimalsEpigeneticsPromoter Regions GeneticMolecular BiologyTranscription factorGeneticsBinding SitesChromatin bindingComputational BiologyPromoterSequence Analysis DNADNA Methylationbiology.organism_classificationChromatinDNA-Binding Proteins030104 developmental biologychemistryGene Expression Regulation207Chromatin profilingbiology.proteinDamIDEpigeneticsTranscription factorDNAAlgorithmsDevelopmental BiologyProtein BindingTranscription FactorsDevelopment (Cambridge, England)
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