Search results for "sequence"

showing 10 items of 4987 documents

Identification of metastasis-related genes by genomic and transcriptomic studies in murine melanoma.

2021

Abstract Aims We systematically characterized metastatic murine B16-F10 melanoma, a sub-line derived from murine melanoma B16-F1 cells. Materials and methods RNA-sequencing and network analyses (Ingenuity Pathway Analysis) were performed to identify novel potential metastasis mechanisms. Chromosomal aberrations were identified by multicolor fluorescence in situ hybridization (mFISH) using all 21 murine whole chromosome painting probes. Key findings Numerous genes were overexpressed in B16-F10 cells, some of which have been already described as being metastasis-linked. Nr5a1/sf1, a known prognostic marker for adrenal tumors, was 177-fold upregulated in B16-F10 cells compared to B16-F1 cells.…

0301 basic medicinemedicine.medical_specialtyMelanoma ExperimentalBiologymedicine.disease_cause030226 pharmacology & pharmacyGeneral Biochemistry Genetics and Molecular BiologyMetastasisTranscriptome03 medical and health sciencesMice0302 clinical medicineCell Line TumormedicineAnimalsGeneral Pharmacology Toxicology and PharmaceuticsNeoplasm MetastasisneoplasmsMelanomaIn Situ Hybridization FluorescenceGenomemedicine.diagnostic_testSequence Analysis RNAMelanomaCytogeneticsCancerGeneral MedicineGenomicsmedicine.diseasecarcinogenesis ; chromosomal aberrations ; cytogenetics ; melanoma ; rna-sequencing ; transcriptomicsSquamous carcinomaMice Inbred C57BL030104 developmental biologyCancer researchCarcinogenesisTranscriptomeFluorescence in situ hybridizationLife sciences
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Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of…

2017

International audience; PurposeCongenital anomalies and intellectual disability (CA/ID) are a major diagnostic challenge in medical genetics—50% of patients still have no molecular diagnosis after a long and stressful diagnostic “odyssey.” Solo clinical whole-exome sequencing (WES) was applied in our genetics center to improve diagnosis in patients with CA/ID.MethodsThis retrospective study examined 416 consecutive tests performed over 3 years to demonstrate the effectiveness of periodically reanalyzing WES data. The raw data from each nonpositive test was reanalyzed at 12 months with the most recent pipeline and in the light of new data in the literature. The results of the reanalysis for …

0301 basic medicinemedicine.medical_specialtyPediatricsCongenital anomaliesIntellectual disabilityTranslational researchClinical WES dataCongenital Abnormalities03 medical and health sciencesRare DiseasesIntellectual disabilityDatabases GeneticExome SequencingmedicineHumansExomeGenetic Testing[ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human geneticsExomeGenetics (clinical)Exome sequencingGenetic testingRetrospective Studiesmedicine.diagnostic_testbusiness.industryHigh-Throughput Nucleotide SequencingRetrospective cohort studySequence Analysis DNAmedicine.diseaseAdditional research3. Good health030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsWhole-exome sequencingPhysical therapyRaw databusiness
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Ectodomain shedding of CD99 within highly conserved regions is mediated by the metalloprotease meprin β and promotes transendothelial cell migration.

2016

The adhesion molecule CD99 is essential for the transendothelial migration of leukocytes. In this study, we used biochemical and cellular assays to show that CD99 undergoes ectodomain shedding by the metalloprotease meprin β and subsequent intramembrane proteolysis by γ-secretase. The cleavage site in CD99 was identified by mass spectrometry within an acidic region highly conserved through different vertebrate species. This finding fits perfectly to the unique cleavage specificity of meprin β with a strong preference for aspartate residues and suggests coevolution of protease and substrate. We hypothesized that limited CD99 cleavage by meprin β would alter cellular transendothelial migratio…

0301 basic medicinemedicine.medical_treatmentProteolysis12E7 AntigenCleavage (embryo)Biochemistry03 medical and health sciencesCarcinoma Lewis LungMice0302 clinical medicineGeneticsmedicineAnimalsHumansMolecular BiologyConserved SequenceMetalloproteinaseProteasemedicine.diagnostic_testChemistryTransendothelial and Transepithelial MigrationLewis lung carcinomaMetalloendopeptidasesCell migrationMolecular biologyIn vitroMice Inbred C57BL030104 developmental biologyHEK293 CellsEctodomain030220 oncology & carcinogenesisProteolysisBiotechnologyHeLa CellsFASEB journal : official publication of the Federation of American Societies for Experimental Biology
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Identification and Characterization of Extracellular Vesicles and Its DNA Cargo Secreted During Murine Embryo Development

2020

Extracellular vesicles (EVs) are known to transport DNA, but their implications in embryonic implantation are unknown. The aim of this study was to investigate EVs production and secretion by preimplantation embryos and assess their DNA cargo. Murine oocytes and embryos were obtained from six- to eight-week-old females, cultured until E4.5 and analyzed using transmission electron microscopy to examine EVs production. EVs were isolated from E4.5-day conditioned media and quantified by nanoparticle tracking analysis, characterized by immunogold, and their DNA cargo sequenced. Multivesicular bodies were observed in murine oocytes and preimplantation embryos together with the secretion of EVs t…

0301 basic medicinemurine blastocystslcsh:QH426-470Embryonic DevelopmentexosomesArticleEmbryo Culture Techniques03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineGeneticsmedicineAnimalsSecretionBlastocystParticle Sizeapoptotic bodiesGenetics (clinical)030219 obstetrics & reproductive medicineChemistryADP-Ribosylation FactorsTetraspanin 30BlastocoelHigh-Throughput Nucleotide SequencingEmbryoImmunogold labellingSequence Analysis DNADNAEmbryonic stem cellMicrovesiclesCell biologylcsh:Genetics030104 developmental biologymedicine.anatomical_structureBlastocystADP-Ribosylation Factor 6Culture Media Conditionedembryonic structuresOocytespreimplantation embryosFemaleextracellular vesiclesmicrovesiclesDNAGenes
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HCV NS3 sequencing as a reliable and clinically useful tool for the assessment of genotype and resistance mutations for clinical samples with differe…

2016

OBJECTIVES: This study aims to evaluate the reliability and clinical utility of NS3 sequencing in hepatitis C virus (HCV) 1-infected patients who were candidates to start a PI-containing regimen. METHODS: NS3 protease sequencing was performed by in-house-developed HCV-1 subtype-specific protocols. Phylogenetic analysis was used to test sequencing reliability and concordance with previous genotype/subtype assignment by commercial genotyping assays. RESULTS: Five hundred and sixty-seven HCV plasma samples with quantifiable HCV-RNA from 326 HCV-infected patients were collected between 2011 and 2014. Overall, the success rate of NS3 sequencing was 88.9%. The success rate between the two subtype…

0301 basic medicinens3Genotyping TechniquesvirusesDrug ResistanceHepacivirusViral Nonstructural Proteinsmedicine.disease_causeGastroenterologyTelaprevirchemistry.chemical_compoundgenotype; genotyping techniques; hepacivirus; hepatitis C; humans; RNA viral; retrospective studies; sequence analysis; DNA; viral nonstructural proteins; drug resistance viral; mutation; pharmacology; infectious diseases0302 clinical medicineRetrospective StudieGenotypePharmacology (medical)ViralGenotype; Genotyping Techniques; Hepacivirus; Hepatitis C; Humans; RNA Viral; Retrospective Studies; Sequence Analysis DNA; Viral Nonstructural Proteins; Drug Resistance Viral; MutationProteolytic enzymesvirus diseasesSettore MED/07 - Microbiologia e Microbiologia ClinicaHepatitis Chcv-rna levelsInfectious DiseasesHCV-RNARNA Viral030211 gastroenterology & hepatologySequence Analysismedicine.drugHumanMicrobiology (medical)medicine.medical_specialtyGenotypeHepatitis C virusConcordanceSettore MED/12 - GASTROENTEROLOGIAGenotype; Genotyping Techniques; Hepacivirus; Hepatitis C; Humans; RNA Viral; Retrospective Studies; Sequence Analysis DNA; Viral Nonstructural Proteins; Drug Resistance Viral; Mutation; Pharmacology; Pharmacology (medical); Infectious DiseasesBiology03 medical and health sciencesBoceprevirInternal medicineDrug Resistance ViralmedicinehcvHumansGenotypingGenotyping TechniquesRetrospective StudiesPharmacologyHepaciviruViral Nonstructural ProteinSettore MED/09 - MEDICINA INTERNASequence Analysis DNADNAVirologydigestive system diseases030104 developmental biologychemistrySequence AnalysiMutationRNAGenotyping TechniqueRNA viral
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Chromosomal distribution of interstitial telomeric sequences in nine neotropical primates (Platyrrhini): possible implications in evolution and phylo…

2016

To localize interstitial telomeric sequences (ITSs) and to test whether their pattern of distribution could be linked to chromosomal evolution, we hybridized telomeric sequence probes (peptide nucleic acid, PNA) on metaphases of New World monkeys: Callithrix argentata, Callithrix jacchus, Cebuella pygmaea, Saguinus oedipus, Saimiri sciureus, Aotus lemurinus griseimembra, Aotus nancymaae (Cebidae), Lagothrix lagotricha (Atelidae) and Callicebus moloch (Pithecidae), characterized by a rapid radiation and a high rate of chromosomal rearrangements. Our analysis of the probe signal localization allowed us to show in all the species analysed, as normally, the telomeric location at the terminal en…

0301 basic medicineowl monkeyChromosomes; genome evolution; owl monkeys; phylogeny; telomeric sequences; Ecology Evolution Behavior and Systematics; Molecular Biology; Animal Science and Zoology; GeneticsZoologyPlatyrrhiniAtelidaegenome evolutionSettore BIO/08 - AntropologiaChromosomephylogeny03 medical and health sciencesCebidaeGeneticsAotus lemurinus griseimembraMolecular BiologyEcology Evolution Behavior and SystematicsAotus nancymaaetelomeric sequencebiologySaimiri sciureusbiology.organism_classificationMolecular biologyCallithrixSaguinus oedipusEcology Evolution Behavior and Systematic030104 developmental biologyAnimal Science and Zoology
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CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.

2017

ObjectiveCancer stem cells (CSCs) are responsible for tumour formation and spreading, and their targeting is required for tumour eradication. There are limited therapeutic options for advanced colorectal cancer (CRC), particularly for tumours carrying RAS-activating mutations. The aim of this study was to identify novel CSC-targeting strategies.DesignTo discover potential therapeutics to be clinically investigated as single agent, we performed a screening with a panel of FDA-approved or investigational drugs on primary CRC cells enriched for CSCs (CRC-SCs) isolated from 27 patients. Candidate predictive biomarkers of efficacy were identified by integrating genomic, reverse-phase protein mic…

0301 basic medicinep53DNA ReplicationCELL CYCLE CONTROLDNA damageColorectal cancerColonmedicine.medical_treatmentAntineoplastic AgentsBiologyBioinformaticsmedicine.disease_causeDNA DAMAGETargeted therapy03 medical and health sciencesCancer stem cellCell Line TumormedicineHumansCHEK11506DRUG DEVELOPMENTOligonucleotide Array Sequence AnalysisMutationCOLORECTAL CANCERSettore MED/06 - ONCOLOGIA MEDICAGastroenterologyCHEMOTHERAPYmedicine.diseaseImmunohistochemistryPrexasertib030104 developmental biologyPyrazinesCheckpoint Kinase 1MutationCancer researchNeoplastic Stem CellsPyrazolesStem cellTumor Suppressor Protein p53Colorectal NeoplasmsGut
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De Novo Genome Assembly of the Raccoon Dog (Nyctereutes Procyonoides)

2021

The raccoon dog, Nyctereutes procyonoides (NCBI Taxonomy ID: 34880, Figure 1a) belongs to the family Canidae, with foxes (genus Vulpes) being their closest relatives (Lindblad-Toh et al., 2005; Sun et al., 2019). Its original distribution in East Asia ranges from south-eastern Siberia to northern Vietnam and the Japanese islands. In the early 20th century, the raccoon dog was introduced into Western Russia for fur breeding and hunting purposes, which led to its widespread establishment in many European countries, Figure 1b. Together with the raccoon (Procyon lotor), it is now listed in Europe as an invasive species of Union concern (Regulation (EU) No. 1143/2014) and member states are requi…

0301 basic medicinepopulation genomicsRange (biology)ZoologyB chromosomeQH426-470GenomePopulation genomics03 medical and health sciences0302 clinical medicineddc:590Data ReportGeneticsraccoon dog (nyctereutes procyonoides)IUCN Red Listmedia_common.cataloged_instanceGenetics (clinical)Syntenymedia_commonB chromosomebiologySARS-CoV-2sequencebiology.organism_classificationgenome assembly and annotationanimalsCanis lupus familiaris030104 developmental biology030220 oncology & carcinogenesisrangeMolecular MedicinecarnivoraNyctereutes procyonoides
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Protoparvovirus Knocking at the Nuclear Door

2017

Protoparvoviruses target the nucleus due to their dependence on the cellular reproduction machinery during the replication and expression of their single-stranded DNA genome. In recent years, our understanding of the multistep process of the capsid nuclear import has improved, and led to the discovery of unique viral nuclear entry strategies. Preceded by endosomal transport, endosomal escape and microtubule-mediated movement to the vicinity of the nuclear envelope, the protoparvoviruses interact with the nuclear pore complexes. The capsids are transported actively across the nuclear pore complexes using nuclear import receptors. The nuclear import is sometimes accompanied by structural chan…

0301 basic medicinevirusesimportinsActive Transport Cell Nucleuslcsh:QR1-502Genome ViralReviewImportinKaryopherinsBiologyVirus Replicationlcsh:MicrobiologyParvovirusMice03 medical and health sciencesCapsidVirologynuclear pore complexmedicineAnimalsHumansInner membraneNuclear poreprotoparvovirusCell Nucleusnuclear localization sequence030102 biochemistry & molecular biologyta1182nuclear envelopeVirus InternalizationVirologynuclear importCell biologyCell nucleusnuclear envelope break down030104 developmental biologyInfectious Diseasesmedicine.anatomical_structureintracellular dynamicsEndosomal transportNuclear PoreentryCapsid ProteinsNucleoporinNuclear transportNuclear localization sequenceViruses
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Dispersion from Cα or NH: 4D experiments for backbone resonance assignment of intrinsically disordered proteins

2020

AbstractResonance assignment of intrinsically disordered proteins is remarkably challenging due to scant chemical shift dispersion arising from conformational heterogeneity. The challenge is even greater if repeating segments are present in the amino acid sequence. To forward unambiguous resonance assignment of intrinsically disordered proteins, we present iHACANCO, HACACON and (HACA)CONCAHA, three Hα-detected 4D experiments with Cα as an additional dimension. In addition, we present (HACA)CON(CA)NH and (HACA)N(CA)CONH, new 4D Hα-start, HN-detect experiments which have two NH dimensions to enhance peak dispersion in a sequential walk through C′, NH and HN, and provide more accurate NH/HN ch…

0303 health sciencesChemical substanceChemistryChemical shiftIDPintrinsically disordered proteinresonanssi010402 general chemistryIntrinsically disordered proteinsAggregatibacter actinomycetemcomitans01 natural sciencesBiochemistryResonance (particle physics)bakteerit0104 chemical sciences03 medical and health sciencesCrystallographyBilRIproteiinitNMR-spektroskopiaDispersion (chemistry)Peptide sequenceresonance assignmentSpectroscopy030304 developmental biologyJournal of Biomolecular NMR
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