Search results for "soma"

showing 10 items of 2624 documents

Reinventing the Wheel and Making It Round Again: Evolutionary Convergence in Buchnera-Serratia Symbiotic Consortia between the Distantly Related Lach…

2016

International audience; Virtually all aphids (Aphididae) harbor Buchnera aphidicola as an obligate endosymbiont to compensate nutritional deficiencies arising from their phloem diet. Many species within the Lachninae subfamily seem to be consistently associated also with Serratia symbiotica We have previously shown that both Cinara (Cinara) cedri and Cinara (Cupressobium) tujafilina (Lachninae: Eulachnini tribe) have indeed established co-obligate associations with both Buchnera and S. symbiotica However, while Buchnera genomes of both Cinara species are similar, genome degradation differs greatly between the two S. symbiotica strains. To gain insight into the essentiality and degree of int…

0301 basic medicineSerratiaLachninaeBiodiversité et EcologieGenomeaphid endosymbiontBiodiversity and EcologyEvolution Molecular03 medical and health sciencesBuchneraPhylogeneticsRNA Ribosomal 16SBotanyGeneticsAnimalsSymbiosisPhylogenyEcology Evolution Behavior and SystematicsBuchnera aphidicola;Lachninae;Serratia symbiotica;aphid endosymbiont;co-obligate;symbiont settlementGeneticssymbiont settlementAphidbiologyObligategénomefood and beveragesbuchnera aphidicolaAphididaeSequence Analysis DNASerratia symbioticabiochemical phenomena metabolism and nutritionbiology.organism_classificationbactérie endosymbiotiqueTuberolachnus salignussymbiont030104 developmental biologypuceronAphidsCinaraévolution génomique[SDE.BE]Environmental Sciences/Biodiversity and EcologyBuchneraco-obligateGenome BacterialResearch Article
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Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia

2016

We have previously identified a deletion mutant of human apoB [apoB (Thr26_Tyr27del)] in a subject with primary hypobetalipoproteinemia. The present study determined the effect of Thr26_Tyr27del mutation on apoB secretion using transfected McA-RH7777 cells. Transient or stable transfection of apoB-48 containing the Thr26_Tyr27del mutation showed drastically reduced secretion of the mutant as compared to wild-type apoB-48. No lipoproteins containing the mutant apoB-48 were secreted into the medium. Incubation of transfected cells in a lipid-rich medium in the presence of cycloheximide showed rapid turnover of cell-associated mutant apoB-48 as compared to that of wild-type apoB-48. Immunofluo…

0301 basic medicineSettore MED/09 - Medicina InternaTime FactorsApolipoprotein B-48 secretionApolipoprotein BMutantDNA Mutational AnalysisApolipoprotein B mutation Apolipoprotein B-48 secretion Hypobetalipoproteinemia Proteasomal degradation030204 cardiovascular system & hematologymedicine.disease_causeEndoplasmic ReticulumHypobetalipoproteinemiaschemistry.chemical_compound0302 clinical medicineProteasomal degradationProteolysiSequence DeletionMutationbiologyMedicine (all)TransfectionProteasome InhibitorPhenotypeBiochemistryApolipoprotein B-100lipids (amino acids peptides and proteins)Proteasome InhibitorsHumanHeterozygoteProteasome Endopeptidase ComplexTime FactorCycloheximideTransfectiondigestive systemCell LineDNA Mutational Analysi03 medical and health sciencesmedicineHumansSecretionGenetic Predisposition to DiseaseMolecular BiologyEndoplasmic reticulumnutritional and metabolic diseasesCell Biologymedicine.diseaseMolecular biology030104 developmental biologychemistryProteolysisbiology.proteinHypobetalipoproteinemiaApolipoprotein B mutationApolipoprotein B-48Hypobetalipoproteinemia
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SNVSniffer: an integrated caller for germline and somatic single-nucleotide and indel mutations

2016

Various approaches to calling single-nucleotide variants (SNVs) or insertion-or-deletion (indel) mutations have been developed based on next-generation sequencing (NGS). However, most of them are dedicated to a particular type of mutation, e.g. germline SNVs in normal cells, somatic SNVs in cancer/tumor cells, or indels only. In the literature, efficient and integrated callers for both germline and somatic SNVs/indels have not yet been extensively investigated. We present SNVSniffer, an efficient and integrated caller identifying both germline and somatic SNVs/indels from NGS data. In this algorithm, we propose the use of Bayesian probabilistic models to identify SNVs and investigate a mult…

0301 basic medicineSomatic cellBayesian probabilityBiologyPolymorphism Single NucleotideGermline03 medical and health sciencesGene FrequencyINDEL MutationStructural BiologyModelling and SimulationIndel callingGenetic variationHumansAlleleIndelMolecular BiologyOvarian NeoplasmsGeneticsResearchApplied MathematicsComputational BiologyHigh-Throughput Nucleotide SequencingSNP callingSomatic SNV callingCystadenocarcinoma SerousComputer Science ApplicationsGerm Cells030104 developmental biologyBayesian modelModeling and SimulationMutation (genetic algorithm)FemaleMultinomial distributionAlgorithmsBMC Systems Biology
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MassARRAY determination of somatic oncogenic mutations in solid tumors: Moving forward to personalized medicine.

2016

This article will review the impact of the recently developed MassARRAY technology on our understanding of cancer biology and treatment. Analysis of somatic mutations is a useful tool in selecting personalized therapy, and for predicting the outcome of many solid tumors. Here, we review the literature on the application of MassARRAY technology (Sequenom Hamburg, Germany) to determine the mutation profile of solid tumors from patients. We summarize the use of commercially available panels of mutations - such as OncoCarta™ or other combinations - and their concordance with results obtained by using other technologies, such as next generation sequencing.

0301 basic medicineSomatic cellConcordanceComputational biologymedicine.disease_causeBioinformatics03 medical and health sciences0302 clinical medicineNeoplasmsMedicineHumansRadiology Nuclear Medicine and imagingCancer biologyPersonalized therapyPrecision MedicineOligonucleotide Array Sequence AnalysisMutationbusiness.industryHigh-Throughput Nucleotide SequencingGeneral MedicineOncogenesPrecision medicine030104 developmental biologyOncology030220 oncology & carcinogenesisMutationPersonalized medicinebusinessCancer treatment reviews
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Evaluation of the Possibility to Detect Circulating Tumor DNA From Pituitary Adenoma

2019

Objective: Circulating free DNA (cfDNA) in general and circulating tumor DNA (ctDNA) in particular is becoming an increasingly used form of liquid biopsy biomarkers. In this study, we are investigating the ability to detect ctDNA from the plasma of pituitary adenoma (PA) patients. Design: Tumor tissue samples were obtained from planed PA resections, before which blood plasma samples were taken. Somatic variants found in PA tissue samples were evaluated in related cfDNA, isolated from plasma samples. Methods: Sanger sequencing, as well as previously obtained whole-exome sequencing data, were used to evaluate somatic variants composition in tumor tissue samples. cfDNA was isolated from the sa…

0301 basic medicineSomatic cellEndocrinology Diabetes and Metabolism030209 endocrinology & metabolismpituitary adenomaBiologylcsh:Diseases of the endocrine glands. Clinical endocrinologyDNA sequencing03 medical and health sciencessymbols.namesakeGNAS0302 clinical medicineEndocrinologyBlood plasmaTaqManGNAS complex locusLiquid biopsyOriginal ResearchSanger sequencingcirculating tumor DNAlcsh:RC648-665AmpliconMolecular biology030104 developmental biologybiology.proteinsymbolsnext-generation sequencingcompetitive allele-specific TaqManFrontiers in Endocrinology
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A Shotgun Proteomics Approach Reveals a New Toxic Role for Alzheimer's Disease Aβ Peptide: Spliceosome Impairment.

2017

Proteomic changes have been described in many neurodegenerative diseases, including Alzheimer's disease (AD). However, the early events in the onset of the pathology are yet to be fully elucidated. A cell model system in which LAN5 neuroblastoma cells were incubated for a short time with a recombinant form of Aβ42 was utilized. Proteins extracted from these cells were subjected to shotgun proteomics analysis by LTQ-Orbitrap-MS followed by label-free quantitation. By bioinformatics tools we found that the most significant of those found to be up-regulated were related to cytoskeletal dynamics (Rho related) and membrane-related processes. The most significant of the down-regulated proteins we…

0301 basic medicineSpliceosomeAmyloid beta-PeptideProteomeComputational biologyDiseaseBiologyBiochemistrylaw.inventionearly events in AD03 medical and health sciencesNeuroblastoma0302 clinical medicinelawAlzheimer DiseaseCell Line TumorHumansShotgun proteomicsCytoskeletonCytoskeletonGeneticsAmyloid beta-PeptidesChemistry (all)Cell MembraneGeneral ChemistryRibosomal RNAAlzheimer's diseaseRecombinant Proteinshotgun proteomicRecombinant Proteins030104 developmental biologySpliceosomeGene Expression RegulationRNA splicingRecombinant DNASpliceosomes030217 neurology & neurosurgeryBiogenesisHumanJournal of proteome research
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Evaluation of dipeptide nitriles as inhibitors of rhodesain, a major cysteine protease of Trypanosoma brucei

2016

A series of dipeptide nitriles known as inhibitors of mammalian cathepsins were evaluated for inhibition of rhodesain, the cathepsin L-like protease of Trypanosoma brucei. Compound 35 consisting of a Leu residue fitting into the S2 pocket and a triarylic moiety consisting of thiophene, a 1,2,4-oxadiazole and a phenyl ring fitting into the S3 pocket, and compound 33 with a 3-bromo-Phe residue (S2) and a biphenyl fragment (S3) were found to inhibit rhodesain in the single-digit nanomolar range. The observed steep structure-activity relationship could be explained by covalent docking simulations. With their high selectivity indices (ca. 200) and the good antitrypanosomal activity (8μM) the com…

0301 basic medicineStereochemistrymedicine.medical_treatmentTrypanosoma brucei bruceiClinical BiochemistryAntitubercular AgentsPharmaceutical ScienceCysteine Proteinase InhibitorsTrypanosoma bruceiBiochemistryCysteine Proteinase InhibitorsStructure-Activity Relationship03 medical and health scienceschemistry.chemical_compoundNitrilesDrug DiscoverymedicineStructure–activity relationshipMoietyMolecular BiologyProteaseDipeptideDose-Response Relationship DrugMolecular StructurebiologyChemistryOrganic ChemistryDipeptidesbiology.organism_classificationCysteine proteaseCysteine Endopeptidases030104 developmental biologyDocking (molecular)Molecular MedicineBioorganic & Medicinal Chemistry Letters
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A Clonal Lineage of Fusarium oxysporum Circulates in the Tap Water of Different French Hospitals.

2016

ABSTRACT Fusarium oxysporum is typically a soilborne fungus but can also be found in aquatic environments. In hospitals, water distribution systems may be reservoirs for the fungi responsible for nosocomial infections. F. oxysporum was previously detected in the water distribution systems of five French hospitals. Sixty-eight isolates from water representative of all hospital units that were previously sampled and characterized by translation elongation factor 1α sequence typing were subjected to microsatellite analysis and full-length ribosomal intergenic spacer (IGS) sequence typing. All but three isolates shared common microsatellite loci and a common two-locus sequence type (ST). This S…

0301 basic medicineSystemVeterinary medicineLineage (genetic)Sequence analysis030106 microbiologyBiologyInfectionsApplied Microbiology and BiotechnologyMicrobiology03 medical and health sciencesIntergenic regionOriginPeptide Elongation Factor 1FusariumPhylogeneticsFusarium oxysporum[SDV.IDA]Life Sciences [q-bio]/Food engineeringHumansTypingDrinking-waterDNA FungalPhylogenyVegetative compatibility groupsDiversityEcologyPublic and Environmental Health MicrobiologyDrinking Water[ SDV.IDA ] Life Sciences [q-bio]/Food engineeringFungiAustraliafood and beveragesSequence Analysis DNARibosomal RNAbiology.organism_classificationHospitals030104 developmental biologyFusariosisMicrosatelliteDNA IntergenicFranceFood ScienceBiotechnologyMicrosatellite RepeatsApplied and environmental microbiology
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Inhabiting plant roots, nematodes, and truffles—polyphilus, a new helotialean genus with two globally distributed species

2018

Fungal root endophytes, including the common group of dark septate endophytes (DSEs), represent different taxonomic groups and potentially diverse life strategies. In this study, we investigated two unidentified helotialean lineages found previously in a study of DSE fungi of semiarid grasslands, from several other sites, and collected recently from a pezizalean truffle ascoma and eggs of the cereal cyst nematode Heterodera filipjevi. The taxonomic positions and phylogenetic relationships of 21 isolates with different hosts and geographic origins were studied in detail. Four loci, namely, nuc rDNA ITS1-5.8S-ITS2 (internal transcribed spacer [ITS]), partial 28S nuc rDNA (28S), partial 18S nu…

0301 basic medicineSystematicZygotePhysiologyLeotiomycetesHyaloscyphaceaeDNA RibosomalPlant Roots03 medical and health sciencesAscomycotaPhylogeneticsDNA Ribosomal SpacerRNA Ribosomal 28SBotanyRNA Ribosomal 18SGeneticsAnimalsCluster AnalysisTylenchoideaInternal transcribed spacerDNA FungalMolecular BiologyRibosomal DNAPhylogenyEcology Evolution Behavior and SystematicsComputingMilieux_MISCELLANEOUSTaxonomy[SDV.EE]Life Sciences [q-bio]/Ecology environmentHeterodera filipjeviCereal cyst nematodebiologyPhylogenetic tree3 new taxaSequence Analysis DNACell BiologyGeneral Medicine15. Life on land030108 mycology & parasitologybiology.organism_classificationEndophyteRNA Ribosomal 5.8S030104 developmental biologyHelotialesRNA Polymerase IIHyaloscyphaceaeMycologia
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Deep learning models for bacteria taxonomic classification of metagenomic data.

2018

Background An open challenge in translational bioinformatics is the analysis of sequenced metagenomes from various environmental samples. Of course, several studies demonstrated the 16S ribosomal RNA could be considered as a barcode for bacteria classification at the genus level, but till now it is hard to identify the correct composition of metagenomic data from RNA-seq short-read data. 16S short-read data are generated using two next generation sequencing technologies, i.e. whole genome shotgun (WGS) and amplicon (AMP); typically, the former is filtered to obtain short-reads belonging to a 16S shotgun (SG), whereas the latter take into account only some specific 16S hypervariable regions.…

0301 basic medicineTime FactorsDBNComputer scienceBiochemistryStructural BiologyRNA Ribosomal 16SDatabases Geneticlcsh:QH301-705.5Settore ING-INF/05 - Sistemi Di Elaborazione Delle InformazionibiologySettore INF/01 - InformaticaShotgun sequencingApplied MathematicsAmpliconClassificationComputer Science Applicationslcsh:R858-859.7DNA microarrayShotgunAlgorithmsCNN030106 microbiologyk-mer representationlcsh:Computer applications to medicine. Medical informaticsDNA sequencing03 medical and health sciencesMetagenomicDeep LearningMolecular BiologyBacteriaModels GeneticPhylumbusiness.industryDeep learningResearchReproducibility of ResultsPattern recognitionBiological classification16S ribosomal RNAbiology.organism_classificationAmpliconHypervariable region030104 developmental biologyTaxonlcsh:Biology (General)MetagenomicsMetagenomeArtificial intelligenceMetagenomicsNeural Networks ComputerbusinessClassifier (UML)BacteriaBMC bioinformatics
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