Search results for "Lymph"

showing 10 items of 4590 documents

FANCD2 modulates the mitochondrial stress response to prevent common fragile site instability

2021

Common fragile sites (CFSs) are genomic regions frequently involved in cancer-associated rearrangements. Most CFSs lie within large genes, and their instability involves transcription- and replication-dependent mechanisms. Here, we uncover a role for the mitochondrial stress response pathway in the regulation of CFS stability in human cells. We show that FANCD2, a master regulator of CFS stability, dampens the activation of the mitochondrial stress response and prevents mitochondrial dysfunction. Genetic or pharmacological activation of mitochondrial stress signaling induces CFS gene expression and concomitant relocalization to CFSs of FANCD2. FANCD2 attenuates CFS gene transcription and pr…

0301 basic medicineGenome instabilitymusculoskeletal diseasesTranscription GeneticQH301-705.5RegulatorMedicine (miscellaneous)MitochondrionBiology[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyGeneral Biochemistry Genetics and Molecular BiologyOxidative PhosphorylationArticle03 medical and health sciences0302 clinical medicineTranscription (biology)Stress Physiologicalhemic and lymphatic diseasesGene expressionFANCD2HumansBiology (General)GeneUbiquitinsChromosomal fragile siteChromosome Fragile SitesChromosome FragilityFanconi Anemia Complementation Group D2 ProteinDNA damage and repair[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyHCT116 CellsCell biologyMitochondriaSettore BIO/18 - Genetica030104 developmental biologyGene Expression Regulation030220 oncology & carcinogenesisUnfolded Protein ResponseGeneral Agricultural and Biological SciencesDNA Damage
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IFNL3/4 genotype is associated with altered immune cell populations in peripheral blood in chronic hepatitis C infection

2016

Single-nucleotide polymorphisms near the interferon lambda 3 (IFNL3) gene predict outcomes to infection and anti-viral treatment in hepatitis C virus (HCV) infection. To identify IFNL3 genotype effects on peripheral blood, we collected phenotype data on 400 patients with genotype 1 chronic hepatitis C (CHC). The IFNL3 responder genotype predicted significantly lower white blood cells (WBCs), as well as lower absolute numbers of monocytes, neutrophils and lymphocytes for both rs8099917 and rs12979860. We sought to define the WBC subsets driving this association using flow cytometry of 67 untreated CHC individuals. Genotype-associated differences were seen in the ratio of CD4CD45RO+ to CD4CD4…

0301 basic medicineGenotypeTranscription FactorT-LymphocytesHepatitis C virusImmunologyHepacivirusBiologymedicine.disease_causeMonocyteMonocytesCohort Studies03 medical and health sciencesGeneticInterferonGenotypeGeneticsmedicineHumansGenetics (clinical)Whole bloodHepaciviruInterleukinsMonocyteGATA3Hepatitis CHepatitis C ChronicInterleukinViral Loadmedicine.diseaseFlow CytometryAntigens Differentiation3. Good healthKiller Cells Natural030104 developmental biologymedicine.anatomical_structureT-LymphocyteImmunologyOriginal ArticleInterferonsCohort StudieViral loadTranscription Factorsmedicine.drugHuman
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Risk of Classic Kaposi Sarcoma With Combinations of Killer Immunoglobulin-Like Receptor and Human Leukocyte Antigen Loci: A Population-Based Case-con…

2015

BACKGROUND Kaposi sarcoma (KS) is a complication of KS-associated herpesvirus (KSHV) infection. Other oncogenic viral infections and malignancies are associated with certain HLA alleles and their natural killer (NK) cell immunoglobulin-like receptor (KIR) ligands. We tested whether HLA-KIR influences the risk of KSHV infection or KS. METHODS In population-based case-control studies, we compared HLA class I and KIR gene frequencies in 250 classic (non-AIDS) KS cases, 280 KSHV-seropositive controls, and 576 KSHV-seronegative controls composing discovery and validation cohorts. Logistic regression was used to calculate sex- and age-adjusted odds ratios (ORs) and 95% confidence intervals. RESUL…

0301 basic medicineGenotypevirusescase-control studyPopulationchemical and pharmacologic phenomenaHuman leukocyte antigenBiologyLymphocyte ActivationSettore MED/42 - Igiene Generale E ApplicataMajor Articles and Brief Reports03 medical and health sciencesReceptors KIRnatural killer–cell immunoglobulin-like receptorsHLA AntigensRisk FactorsSeroepidemiologic Studieshuman leukocyte antigenGenotypeotorhinolaryngologic diseasesHLA-B AntigensHumansImmunology and AllergySeroprevalenceGenetic Predisposition to Diseasehuman geneticeducationSarcoma Kaposieducation.field_of_studyClassic Kaposi SarcomaCase-control studyvirus diseasesKaposi sarcomaOdds ratiomajor histocompatibility complex030104 developmental biologyInfectious DiseasesGene Expression RegulationItalyCase-Control StudiesItaly; Kaposi sarcoma; case-control study; human genetics; human leukocyte antigens; major histocompatibility complex; natural killer–cell immunoglobulin-like receptorsHerpesvirus 8 HumanImmunologyJournal of Infectious Diseases
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Duodenal Bacteria From Patients With Celiac Disease and Healthy Subjects Distinctly Affect Gluten Breakdown and Immunogenicity

2016

Background & Aims Partially degraded gluten peptides from cereals trigger celiac disease (CD), an autoimmune enteropathy occurring in genetically susceptible persons. Susceptibility genes are necessary but not sufficient to induce CD, and additional environmental factors related to unfavorable alterations in the microbiota have been proposed. We investigated gluten metabolism by opportunistic pathogens and commensal duodenal bacteria and characterized the capacity of the produced peptides to activate gluten-specific T-cells from CD patients. Methods We colonized germ-free C57BL/6 mice with bacteria isolated from the small intestine of CD patients or healthy controls, selected for their in v…

0301 basic medicineGlutensDuodenumTissue transglutaminaseT-Lymphocytesdigestive systemMicrobiologyMice03 medical and health sciencesLactobacillusmedicineAnimalsHumansImmunogenetic Phenomenachemistry.chemical_classificationHepatologybiologyImmunogenicityGastroenterologynutritional and metabolic diseasesmedicine.diseasebiology.organism_classificationGlutendigestive system diseasesSmall intestineAltered Schaedler floraMice Inbred C57BLCeliac DiseaseLactobacillus030104 developmental biologymedicine.anatomical_structurechemistryBacterial TranslocationCase-Control StudiesPseudomonas aeruginosaImmunologybiology.proteinGliadinDysbiosisGastroenterology
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MPLA-coated hepatitis B virus surface antigen (HBsAg) nanocapsules induce vigorous T cell responses in cord blood derived human T cells.

2016

Chronic hepatitis B virus (HBV) infection is the most prevalent serious liver infection in the world. A frequent route of infection represents mother-to-child transmission. Efficient control of HBV replication depends on antigen-specific cellular immune response mediated by dendritic cells (DCs). Aim of the present study was to evaluate optimized adjuvant combinations, efficiently maturing monocyte-derived neonatal and adult dendritic cells (moDCs). In addition, the potential of polymeric HBsAg-nanocapsules (HBsAg-NCs) was investigated regarding up-take by moDCs and the subsequent induction of specific T cell responses in a human co-culture model. Simultaneous stimulation of moDCs with MPLA…

0301 basic medicineHBsAgHepatitis B virusT cellT-LymphocytesBiomedical EngineeringPharmaceutical ScienceMedicine (miscellaneous)Bioengineeringmedicine.disease_causeVirus03 medical and health sciences0302 clinical medicineImmune systemNanocapsulesmedicineHumansGeneral Materials ScienceHepatitis B VaccinesHepatitis B virusLiver infectionHepatitis B Surface Antigensbusiness.industryDendritic CellsHepatitis Bmedicine.diseaseFetal BloodHepatitis BVirology030104 developmental biologymedicine.anatomical_structureImmunologyAntigens SurfaceMolecular MedicinebusinessCD80030215 immunologyNanomedicine : nanotechnology, biology, and medicine
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Cardiac regenerative capacity is age- and disease-dependent in childhood heart disease

2018

Objective We sought to define the intrinsic stem cell capacity in pediatric heart lesions, and the effects of diagnosis and of age, in order to inform evidence-based use of potential autologous stem cell sources for regenerative medicine therapy. Methods Ventricular explants derived from patients with hypoplastic left heart syndrome (HLHS), tetralogy of Fallot (TF), dilated cardiomyopathy (DCM) and ventricular septal defect (VSD) were analyzed following standard in vitro culture conditions, which yielded cardiospheres (C-spheres), indicative of endogenous stem cell capacity. C-sphere counts generated per 5 mm3 tissue explant and the presence of cardiac progenitor cells were correlated to pa…

0301 basic medicineHeart Septal Defects VentricularAgingHeart diseaseCell TransplantationCardiovascular Proceduresmedicine.medical_treatmentCardiomyopathylcsh:Medicine030204 cardiovascular system & hematologyBiochemistryHypoplastic left heart syndromeTissue Culture TechniquesElectrocardiography0302 clinical medicineAnimal CellsHeart RegenerationHypoplastic Left Heart SyndromeNeurobiology of Disease and RegenerationMedicine and Health SciencesMorphogenesisBlood and Lymphatic System ProceduresMyocytes CardiacChildlcsh:ScienceCells CulturedTetralogy of FallotMultidisciplinaryStem CellsStem Cell TherapyDilated cardiomyopathyHeartStem-cell therapyCardiac Transplantationmedicine.anatomical_structureNeurologyChild PreschoolCardiologyTetralogy of Fallotcardiovascular systemStem cellCellular TypesAnatomyResearch ArticleCardiomyopathy Dilatedmedicine.medical_specialtyAdolescentHeart VentriclesSurgical and Invasive Medical Procedures03 medical and health sciencesInternal medicinemedicineHumansRegenerationVimentincardiovascular diseasesClinical GeneticsTransplantationbusiness.industrylcsh:RInfant NewbornCorrectionInfantBiology and Life SciencesProteinsMesenchymal Stem CellsCell BiologyOrgan Transplantationmedicine.diseaseCytoskeletal Proteins030104 developmental biologyVentricleCardiovascular Anatomylcsh:QbusinessOrganism DevelopmentDevelopmental BiologyStem Cell TransplantationPLoS ONE
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The relative abundance of hemocyte types in a polyphagous moth larva depends on diet.

2016

7 pages; International audience; Hemocytes are crucial cells of the insect immune system because of their involvement in multiple immune responses including coagulation, phagocytosis and encapsulation. There are various types of hemocytes, each having a particular role in immunity, such that variation in their relative abundance affects the outcome of the immune response. This study aims to characterize these various types of hemocytes in larvae of the grapevine pest insect Eupoecilia ambiguella, and to assess variation in their concentration as a function of larval diet and immune challenge. Four types of hemocytes were found in the hemolymph of 5th instar larvae: granulocytes, oenocytoids…

0301 basic medicineHemocytesPhysiologymedia_common.quotation_subjectHemocyte differentiationZoologyInsectMoths03 medical and health sciencesImmune systemImmunityBotanyHemolymphTortricidae[ SDV.IMM ] Life Sciences [q-bio]/ImmunologyAnimalsVitisHemocyte differentiationmedia_commonLarva[ SDE.BE ] Environmental Sciences/Biodiversity and EcologyEupoecilia ambiguellaGrape varietiesbiologyEcological immunityfungibiochemical phenomena metabolism and nutritionbiology.organism_classificationAnimal FeedLepidoptera030104 developmental biologyEupoecilia ambiguellaInsect ScienceLarvaInstar[SDV.IMM]Life Sciences [q-bio]/ImmunologyAnimal Nutritional Physiological Phenomena[SDE.BE]Environmental Sciences/Biodiversity and EcologyGranulocytes
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Paroxysmal nocturnal haemoglobinuria: When delay in diagnosis and long therapy occurs

2017

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal disorder characterized by hemolytic anemia, bone marrow failure and thrombosis, caused by a somaticmutation in PIG-A gene that results in theabsence of CD55 and CD59, two important complement regulatory proteins. In thispaper, a case of PNH is retrospectively examined looking for clinical and laboratory features, and the entire course of the disease from the onset of the symptoms isdescribed, together with an adequate follow-up over a 7-years treatment period. Inthis case, the not specificity and the limited clinical relevance of the symptoms led to adelay in diagnosis. After thrombosis, Eculizumab therapy has been shown to be effec…

0301 basic medicineHemolytic anemiaPediatricsmedicine.medical_specialtyrenal failureParoxysmal nocturnal haemoglobinuriaparoxysmal nocturnal hemoglobinuriaCase ReportDiseaseCD5903 medical and health sciencesthrombotic eventshemic and lymphatic diseasesMedicineClinical significancebusiness.industrylcsh:RC633-647.5Bone marrow failureHematologylcsh:Diseases of the blood and blood-forming organsEculizumabEculizumabmedicine.diseaseThrombosisparoxysmal nocturnal hemoglo-binuria thrombotic events renal failure Eculizumab030104 developmental biologyParoxysmal nocturnal hemoglobinuriabusinessmedicine.drug
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Mouse Model of Cytomegalovirus Disease and Immunotherapy in the Immunocompromised Host: Predictions for Medical Translation that Survived the “Test o…

2018

Human Cytomegalovirus (hCMV), which is the prototype member of the β-subfamily of the herpesvirus family, is a pathogen of high clinical relevance in recipients of hematopoietic cell transplantation (HCT). hCMV causes multiple-organ disease and interstitial pneumonia in particular upon infection during the immunocompromised period before hematopoietic reconstitution restores antiviral immunity. Clinical investigation of pathomechanisms and of strategies for an immune intervention aimed at restoring antiviral immunity earlier than by hematopoietic reconstitution are limited in patients to observational studies mainly because of ethical issues including the imperative medical indication …

0301 basic medicineHuman cytomegalovirusmouse modelmedicine.medical_treatmentViral pathogenesislcsh:QR1-502T lymphocytesCytomegalovirusMice TransgenicCD8 T cellsReviewDiseaseCD8-Positive T-Lymphocytesmedicine.disease_causelcsh:MicrobiologyImmunocompromised HostMice03 medical and health sciencesImmune systemVirologymedicineAnimalsHumansadoptive cell transferVirus classificationimmune evasioninterstitial pneumoniaimmune controlviral pathogenesisbusiness.industryHematopoietic Stem Cell Transplantationhematopoietic reconstitutionCytomegalovirusImmunotherapyhematopoietic cell transplantation (HCT)medicine.diseaseAdoptive TransferTransplantationDisease Models Animalhumanized mice030104 developmental biologyInfectious DiseasesCytomegalovirus InfectionsImmunologyimmunotherapybusinessViruses
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Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

2018

International audience; Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 fami…

0301 basic medicineHypertrichosisMalePediatrics[SDV]Life Sciences [q-bio]MESH: Magnetic Resonance ImagingPathognomonicMESH: ChildIntellectual disabilityMESH: SyndromeChildMESH: High-Throughput Nucleotide SequencingGenetics (clinical)Exome sequencingComputingMilieux_MISCELLANEOUSbiologyWiedemann-Steiner syndromeHigh-Throughput Nucleotide SequencingSyndromeKMT2AMESH: Amino Acid SubstitutionMagnetic Resonance Imaginghypertrichosis3. Good healthhairinessKMT2APhenotypeWiedemann-Steiner syndromeChild Preschoolcardiovascular systemFemaleDisease SusceptibilityFrancemedicine.symptomMESH: Tomography X-Ray ComputedMyeloid-Lymphoid Leukemia Proteinmedicine.medical_specialtyMESH: MutationAdolescentMESH: Disease SusceptibilityMESH: PhenotypeShort statureMESH: Intellectual Disability03 medical and health sciencesHypertrichosis cubitiIntellectual DisabilityGeneticsmedicineHumanshistone methylationMESH: Adolescent[SDV.GEN]Life Sciences [q-bio]/GeneticsMESH: Humansbusiness.industryMESH: Child PreschoolMESH: Histone-Lysine N-MethyltransferaseHistone-Lysine N-Methyltransferasemedicine.diseaseMESH: MaleMESH: France030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsAmino Acid SubstitutionMESH: Myeloid-Lymphoid Leukemia ProteinMutationbiology.proteinbusinessTomography X-Ray ComputedMESH: FemaleClinical genetics
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