Search results for "CLEO"

showing 10 items of 4423 documents

Next-generation sequencing: big data meets high performance computing

2017

The progress of next-generation sequencing has a major impact on medical and genomic research. This high-throughput technology can now produce billions of short DNA or RNA fragments in excess of a few terabytes of data in a single run. This leads to massive datasets used by a wide range of applications including personalized cancer treatment and precision medicine. In addition to the hugely increased throughput, the cost of using high-throughput technologies has been dramatically decreasing. A low sequencing cost of around US$1000 per genome has now rendered large population-scale projects feasible. However, to make effective use of the produced data, the design of big data algorithms and t…

0301 basic medicineComputer scienceDistributed computingGenomic researchBig dataTerabyteComputing MethodologiesDNA sequencing03 medical and health sciences0302 clinical medicineDatabases GeneticDrug DiscoveryHumansThroughput (business)PharmacologyGenomebusiness.industryHigh-Throughput Nucleotide SequencingGenomicsSequence Analysis DNAPrecision medicineSupercomputerData scienceCancer treatment030104 developmental biology030220 oncology & carcinogenesisbusinessAlgorithmsDrug Discovery Today
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Deep learning network for exploiting positional information in nucleosome related sequences

2017

A nucleosome is a DNA-histone complex, wrapping about 150 pairs of double-stranded DNA. The role of nucleosomes is to pack the DNA into the nucleus of the Eukaryote cells to form the Chromatin. Nucleosome positioning genome wide play an important role in the regulation of cell type-specific gene activities. Several biological studies have shown sequence specificity of nucleosome presence, clearly underlined by the organization of precise nucleotides substrings. Taking into consideration such advances, the identification of nucleosomes on a genomic scale has been successfully performed by DNA sequence features representation and classical supervised classification methods such as Support Vec…

0301 basic medicineComputer scienceSpeech recognitionCell02 engineering and technologyComputational biologyGenomeDNA sequencing03 medical and health scienceschemistry.chemical_compoundDeep Learning0202 electrical engineering electronic engineering information engineeringmedicineNucleosomeNucleotideGeneSettore ING-INF/05 - Sistemi Di Elaborazione Delle Informazionichemistry.chemical_classificationSequenceSettore INF/01 - Informaticabiologybusiness.industryDeep learningnucleosomebiology.organism_classificationSubstringChromatinIdentification (information)030104 developmental biologymedicine.anatomical_structurechemistry020201 artificial intelligence & image processingEukaryoteNucleosome classification Epigenetic Deep learning networks Recurrent Neural NetworksArtificial intelligencebusinessDNA
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Rescuing monopronucleated-derived human blastocysts: a model to study chromosomal topography and fingerprinting.

2021

Objective To quantify the percentage of monopronuclear-derived blastocysts (MNBs) that are potentially useful for reproductive purposes using classic and state-of-the-art chromosome analysis approaches, and to study chromosomal distribution in the inner cell mass (ICM) and trophectoderm (TE) for intertissue/intratissue concordance comparison. Design Prospective experimental study. Setting Single-center in vitro fertilization clinic and reproductive genetics laboratory. Patient(s) A total of 1,128 monopronuclear zygotes were obtained between June 2016 and December 2018. Intervention(s) MNBs were whole-fixed or biopsied to obtain a portion of ICM and 2 TE portions (TE1 and TE2) and were subse…

0301 basic medicineConcordanceBiopsyBiologyPolymorphism Single NucleotideChromosomesAndrology03 medical and health sciences0302 clinical medicinemedicineInner cell massHumansProspective StudiesIn Situ Hybridization FluorescenceGenetic testing030219 obstetrics & reproductive medicineZygotePloidiesmedicine.diagnostic_testObstetrics and GynecologyChromosomeHigh-Throughput Nucleotide SequencingEmbryoDNA Fingerprinting030104 developmental biologyBlastocystReproductive MedicineBlastocyst Inner Cell MassFemalePloidyFluorescence in situ hybridizationFertility and sterility
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Identification of an optimized 2′-O-methylated trinucleotide RNA motif inhibiting Toll-like receptors 7 and 8

2017

Bacterial RNA serves an important function as activator of the innate immune system. In humans bacterial RNA is sensed by the endosomal receptors TLR7 and TLR8. Differences in the posttranscriptional modification profile of prokaryotic when compared with eukaryotic RNA allow innate immune cells to discriminate between “host” and “foreign” RNA. Ribose 2′-O-methylation is of particular importance and has been reported to antagonize TLR7/8 activation. Yet, the exact sequence context in which 2′-O-methylation has to occur to mediate its inhibitory activity remains largely undefined. On the basis of a naturally occurring 2′-O-methylated RNA sequence, we performed a systematic permutation of the …

0301 basic medicineCytidineBiologyBioinformaticsMethylationInhibitory Concentration 5003 medical and health scienceschemistry.chemical_compound0302 clinical medicineRNA TransferReportRiboseHumansNucleotideNucleotide MotifsMolecular Biologychemistry.chemical_classificationInnate immune systemNucleotides2'-O-methylationRNATLR7TLR8Cell biologyRNA Bacterial030104 developmental biologyToll-Like Receptor 7chemistryToll-Like Receptor 8MutationLeukocytes MononuclearNucleic acidRNA030215 immunologyRNA
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Dual role of the RNA helicase DDX5 in post-transcriptional regulation of Myelin Basic Protein in oligodendrocytes

2017

In the central nervous system, oligodendroglial expression of Myelin Basic Protein (MBP) is crucial for the assembly and structure of the myelin sheath. MBP synthesis is tightly regulated in space and time, particularly on the post-transcriptional level. We have identified the DEAD-box RNA helicase DDX5 (alias p68) in a complex with Mbp mRNA in oligodendroglial cells. Expression of DDX5 is highest in progenitor cells and immature oligodendrocytes, where it localizes to heterogeneous populations of cytoplasmic ribonucleoprotein (RNP) complexes associated with Mbp mRNA in the cell body and processes. Manipulation of DDX5 protein amounts inversely affects levels of MBP protein. We present evid…

0301 basic medicineCytoplasmBiologyDEAD-box RNA HelicasesMice03 medical and health scienceschemistry.chemical_compound0302 clinical medicineProtein biosynthesismedicineAnimalsHumansRNA Processing Post-TranscriptionalPost-transcriptional regulationRibonucleoproteinMessenger RNADDX5Myelin Basic ProteinCell BiologyRNA Helicase AOligodendrocyteCell biologyMyelin basic proteinMice Inbred C57BLOligodendroglia030104 developmental biologymedicine.anatomical_structurechemistrybiology.protein030217 neurology & neurosurgeryJournal of Cell Science
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Loss of ISWI Function in Drosophila Nuclear Bodies Drives Cytoplasmic Redistribution of Drosophila TDP-43

2018

Over the past decade, evidence has identified a link between protein aggregation, RNA biology, and a subset of degenerative diseases. An important feature of these disorders is the cytoplasmic or nuclear aggregation of RNA-binding proteins (RBPs). Redistribution of RBPs, such as the human TAR DNA-binding 43 protein (TDP-43) from the nucleus to cytoplasmic inclusions is a pathological feature of several diseases. Indeed, sporadic and familial forms of amyotrophic lateral sclerosis (ALS) and fronto-temporal lobar degeneration share as hallmarks ubiquitin-positive inclusions. Recently, the wide spectrum of neurodegenerative diseases characterized by RBPs functions’ alteration and loss was coll…

0301 basic medicineCytoplasmCytoplasmic inclusionFluorescent Antibody TechniqueProtein aggregationHeterogeneous ribonucleoprotein particleHeterogeneous-Nuclear Ribonucleoproteinslcsh:Chemistry0302 clinical medicineDrosophila Proteinsneurodegenerative diseasesnuclear bodylcsh:QH301-705.5SpectroscopyGeneral MedicinehnRNPsComputer Science ApplicationsCell biologyChromatinTransport proteinDNA-Binding ProteinsProtein Transportmedicine.anatomical_structureDrosophilaDrosophila ProteinProtein BindingImitation SWIBiologyCatalysisArticleInorganic Chemistryomega speckles03 medical and health sciencesmedicineAnimalsPhysical and Theoretical ChemistryMolecular BiologyGenetic Association StudiesCell NucleusOrganic Chemistryta1182Chromatin Assembly and DisassemblyCell nucleus030104 developmental biologylcsh:Biology (General)lcsh:QD1-999gene expression<i>Drosophila</i>; nuclear body; omega speckles; dTDP-43; hnRNPs; omega speckles; neurodegenerative diseases; gene expression; gene regulationdTDP-43gene regulation030217 neurology & neurosurgeryInternational Journal of Molecular Sciences
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GW-Bodies and P-Bodies Constitute Two Separate Pools of Sequestered Non-Translating RNAs

2015

Non-translating RNAs that have undergone active translational repression are culled from the cytoplasm into P-bodies for decapping-dependent decay or for sequestration. Organisms that use microRNA-mediated RNA silencing have an additional pathway to remove RNAs from active translation. Consequently, proteins that govern microRNA-mediated silencing, such as GW182/Gw and AGO1, are often associated with the P-bodies of higher eukaryotic organisms. Due to the presence of Gw, these structures have been referred to as GW-bodies. However, several reports have indicated that GW-bodies have different dynamics to P-bodies. Here, we use live imaging to examine GW-body and P-body dynamics in the early …

0301 basic medicineCytoplasmEmbryologyTranscription GeneticMolecular biologylcsh:MedicineGene ExpressionRNA-binding proteinsRNA-binding proteinBiochemistryBlastulas0302 clinical medicineRNA interferenceDrosophila ProteinsCell Cycle and Cell DivisionSmall nucleolar RNAlcsh:ScienceRNA structureGeneticsMultidisciplinaryDrosophila MelanogasterAnimal ModelsArgonauteLong non-coding RNACell biologyInsectsNucleic acidsRNA silencingCell ProcessesArgonaute ProteinsRNA InterferenceRNA Long NoncodingDrosophilaCellular Structures and OrganellesResearch ArticleArthropodaBiologyResearch and Analysis Methods03 medical and health sciencesModel OrganismsP-bodiesGeneticsAnimalsBlastodermlcsh:REmbryosOrganismsBiology and Life SciencesProteinsRNACell BiologyInvertebratesMicroRNAsMacromolecular structure analysis030104 developmental biologyProtein BiosynthesisRNAlcsh:QProtein Translation030217 neurology & neurosurgeryDevelopmental BiologyPLOS ONE
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Genetic association study of childhood aggression across raters, instruments, and age

2021

AbstractChildhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three sign…

0301 basic medicineDISORDER/45/43Genome-wide association study3124 Neurology and psychiatry0302 clinical medicineChildPsychiatry0303 health sciences:trastornos mentales [PSIQUIATRÍA Y PSICOLOGÍA]HERITABILITYMental DisordersCognitionGenomicsExplained variationJustice and Strong InstitutionsAggressionPsychiatry and Mental healthMeta-analysisADOLESCENCEChild Preschool:conducta y mecanismos de la conducta::conducta::síntomas conductuales::agresión [PSIQUIATRÍA Y PSICOLOGÍA]/631/208/212/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleBiological psychiatrymedicine.symptomLife Sciences & Biomedicine:Investigative Techniques::Genetic Techniques::Genetic Association Studies [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT]BEHAVIORRC321-571Childhood aggressionClinical psychologySDG 16 - PeaceAdolescent:Mental Disorders [PSYCHIATRY AND PSYCHOLOGY]Neurosciences. Biological psychiatry. NeuropsychiatrySingle-nucleotide polymorphismBiology3121 Internal medicineMalalties mentals - Aspectes genèticsGenetic correlationArticle1117 Public Health and Health ServicesCellular and Molecular Neuroscience03 medical and health sciences/631/477/2811SDG 3 - Good Health and Well-beingHuman behaviourmedicineSNPHumansGENOME-WIDE ASSOCIATIONBiological PsychiatryGenetic Association Studies030304 developmental biologyGenetic associationRetrospective Studies:técnicas de investigación::técnicas genéticas::estudios de asociación genética [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS]Science & TechnologyAggressionSDG 16 - Peace Justice and Strong InstitutionsInfant:Behavior and Behavior Mechanisms::Behavior::Behavioral Symptoms::Aggression [PSYCHIATRY AND PSYCHOLOGY]1103 Clinical SciencesAgressivitat en els infantsHeritability/dk/atira/pure/sustainabledevelopmentgoals/peace_justice_and_strong_institutions030104 developmental biology1701 PsychologyORIGINSResearch Programm of Donders Centre for Neuroscience3111 BiomedicineTRAJECTORIES030217 neurology & neurosurgeryDemographyGenome-Wide Association Study
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Differential staining of peripheral nuclear chromatin with Acridine orange implies an A-form epichromatin conformation of the DNA

2018

ABSTRACT The chromatin observed by conventional electron microscopy under the nuclear envelope constitutes a single layer of dense 30–35 nm granules, while ∼30 nm fibrils laterally attached to them, form large patches of lamin-associated domains (LADs). This particular surface “epichromatin” can be discerned by specific (H2A+H2B+DNA) conformational antibody at the inner nuclear envelope and around mitotic chromosomes. In order to differentiate the DNA conformation of the peripheral chromatin we applied an Acridine orange (AO) DNA structural test involving RNAse treatment and the addition of AO after acid pre-treatment. MCF-7 cells treated in this way revealed yellow/red patches of LADs atta…

0301 basic medicineDNA A-formRNase P03 medical and health scienceschemistry.chemical_compoundHumansLADsNADsMitosisOriginal ResearchStaining and LabelingDifferential stainingMetachromasiaAcridine orangeDNACell BiologyepichromatinAcridine OrangeChromatinnucleosome superbeadsChromatinStainingDNA structural test030104 developmental biologychemistryMCF-7 CellsBiophysicsNucleic Acid ConformationDNANucleus
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A Comparison of Techniques to Evaluate the Effectiveness of Genome Editing

2018

Genome editing using engineered nucleases (meganucleases, zinc finger nucleases, transcription activator-like effector nucleases) has created many recent breakthroughs. Prescreening for efficiency and specificity is a critical step prior to using any newly designed genome editing tool for experimental purposes. The current standard screening methods of evaluation are based on DNA sequencing or use mismatch-sensitive endonucleases. They can be time-consuming and costly or lack reproducibility. Here, we review and critically compare standard techniques with those more recently developed in terms of reliability, time, cost, and ease of use.

0301 basic medicineDNA End-Joining Repair[SDV.BIO]Life Sciences [q-bio]/BiotechnologyBioengineeringComputational biologyBiologyDNA sequencing03 medical and health sciencesGenome editingScreening methodAnimalsHumansDNA Breaks Double-StrandedHomologous RecombinationComputingMilieux_MISCELLANEOUSGeneticsGene EditingHigh-Throughput Nucleotide SequencingPlantsEndonucleasesZinc finger nuclease030104 developmental biologyCRISPR-Cas SystemsGenetic EngineeringBiotechnologyRNA Guide Kinetoplastida
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