Search results for "typing"

showing 10 items of 1051 documents

In Silico Typing of Classical and Non-classical HLA Alleles from Standard RNA-Seq Reads

2018

Next-Generation Sequencing (NGS) enables the rapid generation of billions of short nucleic acid sequence fragments (i.e., "sequencing reads"). Especially, the adoption of gene expression profiling using whole transcriptome sequencing (i.e., "RNA-Seq") has been rapid. Here, we describe an in silico method, seq2HLA, that takes standard RNA-Seq reads as input and determines a sample's (classical and non-classical) HLA class I and class II types as well as HLA expression. We demonstrate the application of seq2HLA using publicly available RNA-Seq data from the Burkitt's lymphoma cell line DAUDI and the choriocarcinoma cell line JEG-3.

0301 basic medicineIn silicoNucleic acid sequenceRNA-SeqHuman leukocyte antigenComputational biologyBiologyGene expression profiling03 medical and health sciences030104 developmental biology0302 clinical medicine030220 oncology & carcinogenesisTypingAlleleAllele frequency
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Jaminaea phylloscopi sp. nov. (Microstromatales), a basidiomycetous yeast isolated from migratory birds in the Mediterranean basin.

2016

During a survey of yeasts vectored by migratory birds in the Mediterranean basin, isolations from the cloacae of members of the order Passeriformes collected in Ustica (Italy) were performed. Based on phylogenetic analysis of the D1/D2 domain of the 26S rRNA gene and the internal transcribed spacer ITS1-5.8S rRNA gene-ITS2 region, five yeast isolates clustered in a new lineage within the Microstromatales clade. The DNA sequences of these isolates differed from those of their closest relatives, Jaminaea angkorensis and Jaminaea lanaiensis, by 20 and 25 nt substitutions in the D1/D2 domain and 119 and 131 nt substitutions in the complete ITS region, respectively. In addition, the five isolate…

0301 basic medicineLineage (evolution)BiologyMicrobiologyBirds03 medical and health sciencesCloacaDNA Ribosomal SpacerAnimalsInternal transcribed spacerCladeDNA FungalMycological Typing TechniquesEcology Evolution Behavior and SystematicsPhylogenyGeneticsBase CompositionPhylogenetic treeAccession number (library science)Microbiology; Ecology Evolution Behavior and SystematicsMycoBankBasidiomycotaGeneral MedicineRibosomal RNARAPDRNA Ribosomal 5.8SRandom Amplified Polymorphic DNA Technique030104 developmental biologyItalyRNA RibosomalSettore AGR/16 - Microbiologia AgrariaInternational journal of systematic and evolutionary microbiology
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Trends of extended-spectrum β-lactamase-producing Escherichia coli sequence type 131 and its H30 subclone in a French hospital over a 15-year period.

2016

International audience; Sequence type 131 (ST131) is a predominant lineage among extraintestinal pathogenic Escherichia coli. It plays a major role in the worldwide dissemination of E. coli producing extended-spectrum β-lactamases (ESBLs). Here we describe the long-term epidemiology of this clonal group in a French university hospital, where the incidence of ESBL-producing E. coli has increased from 0.018 case per 1000 patient-days in the year 2000 to 0.50 case per 1000 patient-days in 2014. The first of the 141 ST131 isolates was recovered in 2006, and the ST131 clonal group accounted for 18.1% of total ESBL-producing E. coli over the whole period (2000-2014). Subclonal typing showed that …

0301 basic medicineMESH : Escherichia coliMESH : Retrospective StudiesMESH : Multilocus Sequence TypingMESH: beta-LactamasesMESH : GenotypeMultidrug resistancemedicine.disease_causeHospitals UniversityMESH: Genotype[ SDV.MP ] Life Sciences [q-bio]/Microbiology and ParasitologyPharmacology (medical)MESH: IncidenceMESH: Genetic VariationEscherichia coli InfectionsComputingMilieux_MISCELLANEOUSCross InfectionMolecular EpidemiologyExtraintestinal Pathogenic Escherichia coliMESH: Escherichia coliIncidenceIncidence (epidemiology)MESH : beta-LactamasesGeneral MedicinePFGEMESH : IncidenceElectrophoresis Gel Pulsed-Field3. Good healthInfectious DiseasesMESH: Electrophoresis Gel Pulsed-FieldMESH: Multilocus Sequence Typing[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyMESH : Escherichia coli Infections[SDE]Environmental SciencesFranceMESH : Cross InfectionMicrobiology (medical)clone (Java method)Lineage (genetic)GenotypeMESH : Molecular Epidemiology030106 microbiologyBiologybeta-LactamasesMicrobiology03 medical and health sciencesExtended-spectrum β-lactamaseMESH : Genetic VariationEscherichia coliPulsed-field gel electrophoresismedicineHumansMESH: Molecular EpidemiologyTypingMESH : FranceEscherichia coliMESH : Hospitals UniversityRetrospective StudiesMESH : Electrophoresis Gel Pulsed-FieldMESH: Escherichia coli InfectionsMESH: Hospitals UniversityMESH: HumansMESH : HumansGenetic VariationMESH: Cross InfectionMESH: Retrospective Studiesbacterial infections and mycosesMultiple drug resistanceMESH: FranceESBLMultilocus Sequence Typing
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New insights into the genetic component of non-infectious uveitis through an Immunochip strategy.

2016

BACKGROUND: Large-scale genetic studies have reported several loci associated with specific disorders involving uveitis. Our aim was to identify genetic risk factors that might predispose to uveitis per se, independent of the clinical diagnosis, by performing a dense genotyping of immune-related loci.METHODS: 613 cases and 3693 unaffected controls from three European case/control sets were genotyped using the Immunochip array. Only patients with non-infectious non-anterior uveitis and without systemic features were selected. To perform a more comprehensive analysis of the human leucocyte antigen (HLA) region, SNPs, classical alleles and polymorphic amino acid variants were obtained via impu…

0301 basic medicineMale*meta-analysisSingle-nucleotide polymorphismHuman leukocyte antigenBiology*human leukocyte antigenPolymorphism Single NucleotideWhite PeopleUveitis03 medical and health sciences0302 clinical medicine*Immunochiphuman leukocyte antigenHLA AntigensRisk FactorsGeneticsmedicineJournal ArticleHumansGenotypingGenetics (clinical)Allelesnon-anterior uveitisGeneticsHaplotypenon-infectious uveitisImmunochipMiddle Agedmedicine.diseaseBirdshot chorioretinopathymeta-analysis030104 developmental biologyHaplotypesGenetic Loci*non-anterior uveitisCase-Control StudiesImmunology*non-infectious uveitis030221 ophthalmology & optometryIntermediate uveitisFemaleGene polymorphismUveitis
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Decreased proportions of CD4 + IL17+/CD4 + CD25 + CD127- and CD4 + IL17+/CD4 + CD25 + CD127 - FoxP3+ T cells in children with autoimmune thyroid dise…

2016

Until now, altered balance of Th1 and Th2 immune cells has been postulated to play an important role in the pathogenesis of autoimmune thyroid diseases (AITD). However, recent studies on thyroid diseases have suggested a new role for Th17 cells that have been classified as a new lineage, distinct from Th1, Th2 and Treg cells. Despite wide interest, the role of Th17 cells in the pathogenesis of inflammatory and autoimmune diseases is still debated. The aim of the study was to estimate the proportions of Th17/Treg T cells in peripheral blood from patients with Graves' disease (GD; n = 29, mean age 15.4 ± 5.1 years), Hashimoto's thyroiditis (HT; n = 39, mean age 15.2 ± 4.1 years) and in health…

0301 basic medicineMaleAdolescentGraves' diseaseT cellImmunologychemical and pharmacologic phenomenaHashimoto DiseaseT-Lymphocytes RegulatoryThyroiditisAutoimmune DiseasesImmunophenotyping03 medical and health sciencesYoung Adult0302 clinical medicineImmune systemT-Lymphocyte SubsetsmedicineImmunology and AllergyHumansHashimoto DiseaseLymphocyte CountChildAutoantibodiesbusiness.industryThyroidFOXP3hemic and immune systemsmedicine.diseaseThyroid DiseasesAnti-thyroid autoantibodiesGraves Disease030104 developmental biologymedicine.anatomical_structurePhenotypeCase-Control StudiesImmunologyTh17 CellsFemalebusinessBiomarkers030215 immunologyAutoimmunity
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Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

2019

The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases (LSD), the impact of lysosomal engorgement in human lipid antigen presentation is poorly characterized. Here, we analyzed the capacity of monocyte-derived dendritic cells (Mo-DCs) from Fabry, Gaucher, Niemann Pick type C and Mucopolysaccharidosis type VI disease patients to present exogenous antigens to lipid-specific T cells. The CD1b- and CD1d-restricted presentation of lipid antigens by Mo-DCs revealed an ability of LSD patients to induce CD…

0301 basic medicineMaleAntigens CD1d / metabolismMucopolysaccharidosis type VIMonocytes / metabolismLysosomal Storage Diseases / diagnosisAntigens CD10302 clinical medicineAntigens CD1 / metabolismLysosomal storage diseaseImmunology and AllergyChildOriginal ResearchAged 80 and overAntigen PresentationbiologyKiller Cells Natural / metabolism*lipid antigen presentationAntigen Presentation / immunologyMiddle AgedNatural killer T cellLipidsnatural killer T cellsKiller Cells Naturalmedicine.anatomical_structureCD1DDendritic Cells / metabolismChild Preschool*dendritic cellsFemalelipids (amino acids peptides and proteins)*natural killer T cellsDisease SusceptibilitymonocytesAdultlcsh:Immunologic diseases. AllergyAdolescentT cellImmunologyCD1chemical and pharmacologic phenomenaCD1bLysosomal Storage Diseases / metabolismCD1dImmunophenotyping03 medical and health sciencesYoung AdultAntigenLysosomemedicineDendritic Cells / immunologyHumans*monocytesLymphocyte Countdendritic cellslysosomal storage diseasesLysosomal Storage Diseases / etiologyKiller Cells Natural / immunologyAgedbusiness.industry*CD1dInfantlipid antigen presentationmedicine.diseaseMonocytes / immunology*CD1b*lysosomal storage diseases030104 developmental biologyImmunologybiology.proteinAntigens CD1dbusinesslcsh:RC581-607Lipids / immunologyBiomarkers030215 immunology
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A multidimensional network approach reveals microRNAs as determinants of the mesenchymal colorectal cancer subtype

2016

Colorectal cancer (CRC) is a heterogeneous disease posing a challenge for accurate classification and treatment of this malignancy. There is no common genetic molecular feature that would allow for the identification of patients at risk for developing recurrences and thus selecting patients who would benefit from more stringent therapies still poses a major clinical challenge. Recently, an international multicenter consortium (CRC Subtyping Consortium) was established aiming at the classification of CRC patients in biologically homogeneous CRC subtypes. Four consensus molecular subtypes (CMSs) were identified, of which the mesenchymal CMS4 presented with worse prognosis signifying the impor…

0301 basic medicineMaleCancer ResearchEpithelial-Mesenchymal TransitionGene regulatory networkComputational biologyBiologymedicine.disease_causeEpigenesis Genetic03 medical and health sciencesMolecular Biology; Cancer Research; GeneticsCell Line TumormicroRNAmedicineGeneticsHumansGene Regulatory NetworksEpigeneticsPromoter Regions GeneticMolecular BiologyRegulation of gene expressionCancerComputational BiologyDNA Methylationmedicine.diseasePrognosisSubtyping3. Good healthGene Expression Regulation NeoplasticMicroRNAs030104 developmental biologyPhenotypeMultigene FamilyDNA methylationCancer researchFemaleOriginal ArticleCarcinogenesisColorectal NeoplasmsTranscriptomeOncogene
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Antibody–Fc/FcR Interaction on Macrophages as a Mechanism for Hyperprogressive Disease in Non–small Cell Lung Cancer Subsequent to PD-1/PD-L1 Blockade

2019

Abstract Purpose: Hyperprogression (HP), a paradoxical boost in tumor growth, was described in a subset of patients treated with immune checkpoint inhibitors (ICI). Neither clinicopathologic features nor biological mechanisms associated with HP have been identified. Experimental Design: Among 187 patients with non–small cell lung cancer (NSCLC) treated with ICI at our institute, cases with HP were identified according to clinical and radiologic criteria. Baseline histologic samples from patients treated with ICI were evaluated by IHC for myeloid and lymphoid markers. T-cell–deficient mice, injected with human lung cancer cells and patient-derived xenografts (PDX) belonging to specific mutat…

0301 basic medicineMaleCancer ResearchMyeloidLung NeoplasmsCD33Programmed Cell Death 1 ReceptorFc receptorMice NudeMice SCIDReceptors Fcnon-small cell lung cancer Hyperprogression immune checkpoint inhibitors.B7-H1 AntigenArticle03 medical and health sciences0302 clinical medicineImmunophenotypingAntineoplastic Agents ImmunologicalPD-L1Carcinoma Non-Small-Cell LungCell Line TumormedicineAnimalsHumansLung cancerAntibodies Blockingbiologybusiness.industryMacrophagesmedicine.diseaseXenograft Model Antitumor Assays3. Good healthImmunoglobulin Fc FragmentsTumor Burden030104 developmental biologymedicine.anatomical_structureNivolumabOncology030220 oncology & carcinogenesisbiology.proteinCancer researchImmunohistochemistryFemaleAntibodybusinessClinical Cancer Research
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Phenotypic and functional characterization of neutrophils and monocytes from patients with myelodysplastic syndrome by flow cytometry.

2016

Myelodysplastic syndrome (MDS) is a clonal stem cell disorder frequently associated with inefficient granulopoiesis showing dysplastic polymorphonuclear neutrophils (PMNs). To assess PMN functionality in MDS in a clinical routine setting, 30 MDS patients and ten healthy volunteers were analyzed for PMN and monocyte phenotype and function (degranulation, CD62L shedding, oxidative burst and phagocytosis) upon stimulation with lipopolysaccharide by multi-color flow cytometry (MCFC). Our data show a heterogeneous pattern for CD66, CD16 and CD64 expression on PMNs of MDS patients. CD62L shedding rate and CD66 degranulation were reduced. Interestingly, we detected correlations between the WHO ada…

0301 basic medicineMaleCell DegranulationNeutrophilsImmunologyCell SeparationBiologyGranulopoiesisCell DegranulationMonocytesFlow cytometryImmunophenotyping03 medical and health sciences0302 clinical medicineMonitoring ImmunologicmedicineHumans610 Medicine & healthAgedMonitoring PhysiologicCD64Aged 80 and overCD11b Antigenmedicine.diagnostic_testMyelodysplastic syndromesMonocyteReceptors IgGDegranulationhemic and immune systemsMiddle Agedmedicine.diseaseFlow CytometryPrognosis030104 developmental biologymedicine.anatomical_structureInternational Prognostic Scoring SystemMyelodysplastic SyndromesImmunologyFemale030215 immunologyCellular immunology
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Antibiotic resistance and population structure of cystic fibrosis Pseudomonas aeruginosa isolates from a Spanish multi-centre study

2017

The first Spanish multi-centre study on the microbiology of cystic fibrosis (CF) was conducted from 2013 to 2014. The study involved 24 CF units from 17 hospitals, and recruited 341 patients. The aim of this study was to characterise Pseudomonas aeruginosa isolates, 79 of which were recovered from 75 (22%) patients. The study determined the population structure, antibiotic susceptibility profile and genetic background of the strains. Fifty-five percent of the isolates were multi-drug-resistant, and 16% were extensively drug-resistant. Defective mutS and mutL genes were observed in mutator isolates (15.2%). Considerable genetic diversity was observed by pulsed-field gel electrophoresis (70 p…

0301 basic medicineMaleCystic FibrosisAntibiotic resistanceArray tubeMulti-locus sequence typing (MLST)medicine.disease_causeGenotypePharmacology (medical)ChildGeneticseducation.field_of_studyMolecular EpidemiologyVirulencePseucforrumus aeruginosaGeneral MedicineMiddle AgedMutS DNA Mismatch-Binding ProteinElectrophoresis Gel Pulsed-FieldInfectious DiseasesChild PreschoolPseudomonas aeruginosaFemalemedicine.drugMicrobiology (medical)AdultAdolescentGenotype030106 microbiologyPopulationVirulenceBiologyCystic fibrosisMicrobiology03 medical and health sciencesYoung AdultAntibiotic resistanceDrug Resistance BacterialmedicineHumansPseudomonas InfectionsTypingeducationGenetic diversityPseudomonas aeruginosaGenetic VariationMutL ProteinsSpainColistinMultilocus Sequence Typing
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