Search results for " transcription"

showing 10 items of 810 documents

Human CD8+ T-cells Recognizing Peptides from Mycobacterium tuberculosis (Mtb) Presented by HLA-E Have an Unorthodox Th2-like, Multifunctional, Mtb In…

2015

Mycobacterial antigens are not exclusively presented to T-cells by classical HLA-class Ia and HLA-class II molecules, but also through alternative antigen presentation molecules such as CD1a/b/c, MR1 and HLA-E. We recently described mycobacterial peptides that are presented in HLA-E and recognized by CD8+ T-cells. Using T-cell cloning, phenotyping, microbiological, functional and RNA-expression analyses, we report here that these T-cells can exert cytolytic or suppressive functions, inhibit mycobacterial growth, yet express GATA3, produce Th2 cytokines (IL-4,-5,-10,-13) and activate B-cells via IL-4. In TB patients, Mtb specific cells were detectable by peptide-HLA-E tetramers, and IL-4 and…

MaleMacrophageQH301-705.5ImmunologyAntigen presentationBacterial ProteinMycobacterium tuberculosiHuman leukocyte antigenGATA3 Transcription FactorCD8-Positive T-LymphocytesMicrobiologyMicrobiologyMycobacterium tuberculosisImmune systemTh2 CellsGeneticHLA-EBacterial ProteinsVirologyGeneticsCytotoxic T cellHumansBiology (General)Th2 CellCytokineMolecular BiologyAntigen PresentationbiologyMacrophagesHistocompatibility Antigens Class ICD8-Positive T-LymphocyteMycobacterium tuberculosisRC581-607biology.organism_classificationBacterial Proteins; CD8-Positive T-Lymphocytes; Cytokines; Female; GATA3 Transcription Factor; Histocompatibility Antigens Class I; Humans; Macrophages; Male; Mycobacterium tuberculosis; Peptides; Th2 Cells; Antigen Presentation; Microbiology; Parasitology; Virology; Immunology; Genetics; Molecular BiologyPhenotypeVirology3. Good healthPeptideCytokinesParasitologyFemaleImmunologic diseases. AllergyPeptidesCD8HumanResearch ArticlePLoS Pathogens
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Constitutive activation of JAK2 in mammary epithelium elevates Stat5 signalling, promotes alveologenesis and resistance to cell death, and contribute…

2011

Signalling through the janus kinase (JAK)/signal transducer and activator of transcription (Stat) pathway is required at different stages of mammary gland development, and this pathway is frequently hyper-activated in cancer, including tumours of the breast. Stats 3, 5 and 6 have important roles in the differentiation and survival of mammary alveolar cells, but somewhat paradoxically, both Stat3 and 5 can have oncogenic activity in the mammary gland. Constitutive activation of JAK2 could be anticipated to result in hyper-activation of Stats 1, 3, 5 and 6 with concomitant cell transformation, although the outcome is difficult to envisage, particularly since Stats 3 and 5 play opposing roles …

MaleMammary glandTransplantation HeterologousMutation MissenseMice NudeBreast NeoplasmsMammary Neoplasms AnimalMiceMammary Glands AnimalPregnancyhemic and lymphatic diseasesCell Line TumormedicineSTAT5 Transcription FactorAnimalsHumansLactationSTAT3Mammary Glands HumanMolecular BiologySTAT5Mice KnockoutOriginal PaperJanus kinase 2biologyCell DeathCell growthCell BiologyJanus Kinase 2Enzyme Activationmedicine.anatomical_structureCell Transformation Neoplasticbiology.proteinSTAT proteinCancer researchFemaleSignal transductionJanus kinaseNeoplasm TransplantationSignal Transduction
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

2020

International audience; PURPOSE: Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.METHODS: Clinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various ty…

MaleMedizinHaploinsufficiencyL-SOX5VARIANTS0302 clinical medicineNeurodevelopmental disorderIntellectual disabilityMissense mutation2.1 Biological and endogenous factorsAetiologyChildGenetics (clinical)GeneticsPediatricGenetics & Heredity0303 health sciencesPedigreeFAMILYDNA-Binding Proteinsdevelopmental delayTRANSCRIPTION FACTORSPhenotypeintellectual disabilityChild Preschoolmissense variantsFemalemissense variants.HaploinsufficiencySOXD Transcription FactorsAdultEXPRESSIONAdolescentIntellectual and Developmental Disabilities (IDD)Clinical SciencesMutation MissenseautismCell fate determinationBiologyLONG FORMSEQUENCEArticle03 medical and health sciencesYoung AdultRare DiseasesClinical ResearchCARTILAGEIntellectual DisabilitymedicineGeneticsAnimalsHumansLanguage Development DisordersGenetic Predisposition to DiseasePreschoolTranscription factorGene030304 developmental biology[SDV.GEN]Life Sciences [q-bio]/GeneticsMUTATIONSHuman GenomeInfantmedicine.diseaseBrain DisordersNeurodevelopmental DisordersDeciphering Developmental Disorder StudyMutationAutismepilepsyMissense030217 neurology & neurosurgeryGENERATIONGenetics in Medicine
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Genomic response of the rat brain to global ischemia and reperfusion

2008

To identify genes that are involved in ischemia response of the brain, we have evaluated changes of gene expression in rat cerebrum after 15 min complete global ischemia, followed by reperfusion for 1 h, 6 h or 24 h. The expression profiles of approximately 30,000 transcripts from three subjects in each group (including sham-operated controls) were monitored employing oligonucleotide microarrays. About 20,000 transcripts were detectable in rat brains. The levels of 576 transcripts (approximately 2.9%) were significantly altered in response to experimental ischemia. 419 transcripts were up- and 157 downregulated; 39 transcripts changed after 1 h reperfusion, 174 after 6 h and 462 after 24 h.…

MaleMicroarrayIschemiaBiologyBrain IschemiaGene expressionmedicineAnimalsCluster AnalysisRats WistarMolecular BiologyOligonucleotide Array Sequence AnalysisRegulation of gene expressionReverse Transcriptase Polymerase Chain ReactionMicroarray analysis techniquesGene Expression ProfilingGeneral NeuroscienceBrainmedicine.diseaseMolecular biologyRatsGene expression profilingReverse transcription polymerase chain reactionReal-time polymerase chain reactionGene Expression RegulationReperfusionRNANeurology (clinical)Developmental BiologyBrain Research
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Mitochondrial biogenesis fails in secondary biliary cirrhosis in rats leading to mitochondrial DNA depletion and deletions

2011

Chronic cholestasis is characterizedby mitochondrial dysfunction, associated with loss of mitochondrialmembrane potential, decreased activities of respiratory chaincomplexes, and ATP production. Our aim was to determine themolecular mechanisms that link long-term cholestasis to mitochondrialdysfunction. We studied a model of chronic cholestasis inducedby bile duct ligation in rats. Key sensors and regulators of theenergetic state and mitochondrial biogenesis, mitochondrial DNA(mtDNA)-to-nuclear DNA (nDNA) ratio (mtDNA/nDNA) relativecopy number, mtDNA deletions, and indexes of apoptosis (BAX,BCL-2, and cleaved caspase 3) and cell proliferation (PCNA) wereevaluated. Our results show that long…

MaleMitochondrial DNAPhysiologyMitochondrial TurnoverMitochondrial HepatopathyNF-E2-Related Factor 1Respiratory chainMitochondria LiverProtein Serine-Threonine KinasesMitochondrionBiologyDNA MitochondrialSirtuin 1CholestasisProliferating Cell Nuclear AntigenPhysiology (medical)medicineAnimalsRats Wistarbcl-2-Associated X ProteinCholestasisHepatologyCaspase 3Liver Cirrhosis BiliaryGastroenterologyPyruvate Dehydrogenase Acetyl-Transferring KinaseRNA-Binding ProteinsTFAMmedicine.diseaseGA-Binding Protein Transcription FactorPeroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaMolecular biologyRatsGenes MitochondrialProto-Oncogene Proteins c-bcl-2Mitochondrial biogenesisChronic DiseaseBile DuctsGene DeletionTranscription FactorsAmerican Journal of Physiology-Gastrointestinal and Liver Physiology
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Antiatherosclerotic Effects of Small-Molecular-Weight Compounds Enhancing Endothelial Nitric-Oxide Synthase (eNOS) Expression and Preventing eNOS Unc…

2008

Many cardiovascular diseases are associated with reduced levels of bioactive nitric oxide (NO) and an uncoupling of oxygen reduction from NO synthesis in endothelial NO synthase (eNOS uncoupling). In human endothelial EA.hy 926 cells, two small-molecular-weight compounds with related structures, 4-fluoro-N-indan-2-yl-benzamide (CAS no. 291756-32-6; empirical formula C16H14FNO; AVE9488) and 2,2-difluoro-benzo[1,3]dioxole-5-carboxylic acid indan-2-ylamide (CAS no. 450348-85-3; empirical formula C17H13F2NO3; AVE3085), enhanced eNOS promoter activity in a concentration-dependent manner; with the responsible cis-element localized within the proximal 263 base pairs of the promoter region. RNA int…

MaleNeointimamedicine.medical_specialtyNitric Oxide Synthase Type IIINitric Oxide Synthase Type IINitric OxideProtective AgentsUmbilical veinCell LineNitric oxideMicechemistry.chemical_compoundApolipoproteins EEnosInternal medicinemedicineAnimalsHumansBenzodioxolesRNA MessengerAortaMice KnockoutPharmacologychemistry.chemical_classificationSp1 transcription factorReactive oxygen speciesGene knockdownbiologyEndothelial CellsAtherosclerosisbiology.organism_classificationVasoprotectiveMice Inbred C57BLMolecular WeightEndocrinologychemistryBenzamidesIndansMolecular MedicineJournal of Pharmacology and Experimental Therapeutics
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Control of apterous by vestigial drives indirect flight muscle development in drosophila

2003

0012-1606 (Print) Journal Article Research Support, Non-U.S. Gov't; Drosophila thoracic muscles are comprised of both direct flight muscles (DFMs) and indirect flight muscles (IFMs). The IFMs can be further subdivided into dorsolongitudinal muscles (DLMs) and dorsoventral muscles (DVMs). The correct patterning of each category of muscles requires the coordination of specific executive regulatory programs. DFM development requires key regulatory genes such as cut (ct) and apterous (ap), whereas IFM development requires vestigial (vg). Using a new vg(null) mutant, we report that a total absence of vg leads to DLM degeneration through an apoptotic process and to a total absence of DVMs in the …

MaleNerve Tissue Proteins/genetics/metabolismMuscle Fibers SkeletalMutantTranscription Factors/genetics/*metabolismmedicine.disease_causeMyoblastsTwist transcription factorMyoblasts/physiologyDrosophila ProteinsWings AnimalDevelopmentalCells CulturedRegulator geneRegulation of gene expressionWing/growth & development/physiologyMutationCulturedMusclesGene Expression Regulation DevelopmentalNuclear ProteinsDrosophila Proteins/genetics/*metabolismAnatomyMuscle degenerationCell biologytwistDrosophilacutMuscles/metabolism/pathology/*physiologyIndirect flight musclesCellsLIM-Homeodomain ProteinsMuscle Fibers/pathology/physiologyNerve Tissue ProteinsBiologyvestigialNuclear Proteins/genetics/*metabolismmedicineHomeodomain Proteins/genetics/*metabolismAnimalsDrosophila/*growth & developmentDrosophilaMolecular BiologyHomeodomain ProteinsTwist-Related Protein 1Cell Biologybiology.organism_classificationapterousTwist Transcription FactorGene Expression RegulationMutationEctopic expressionTranscription FactorsDevelopmental BiologyDevelopmental Biology
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Sox-2 Positive Neural Progenitors in the Primate Striatum Undergo Dynamic Changes after Dopamine Denervation.

2013

The existence of endogenous neural progenitors in the nigrostriatal system could represent a powerful tool for restorative therapies in Parkinson's disease. Sox-2 is a transcription factor expressed in pluripotent and adult stem cells, including neural progenitors. In the adult brain Sox-2 is expressed in the neurogenic niches. There is also widespread expression of Sox-2 in other brain regions, although the neurogenic potential outside the niches is uncertain. Here, we analyzed the presence of Sox-2(+) cells in the adult primate (Macaca fascicularis) brain in naïve animals (N = 3) and in animals exposed to systemic administration of 1-methyl-4-phenyl-1,2,3,6 tetrahydropyridine to render th…

MalePathologyDopamineFluorescent Antibody Techniquelcsh:MedicineDopaminaStriatumchemistry.chemical_compoundNeural Stem CellsNeurobiology of Disease and RegenerationSox-2 PositiveNeurocièncieslcsh:Scienceeducation.field_of_studyMultidisciplinaryMPTPStem CellsCell DifferentiationNeurochemistryNeurodegenerative DiseasesParkinson DiseaseAnimal ModelsDopamine DenervationDenervationSubstantia NigraAdult Stem CellsNeurologyembryonic structuresMedicineNeural ProgenitorsCalretininNeurochemicalsMacaqueAdult stem cellmedicine.drugResearch Articlemedicine.medical_specialtyendocrine systemNeurogenesisPopulationSubstantia nigraModel OrganismsDevelopmental NeuroscienceDopamineInternal medicinemedicineAnimalsProgenitor celleducationBiologyurogenital systemSOXB1 Transcription Factorslcsh:RCorrectionCorpus StriatumMacaca fascicularisEndocrinologychemistrynervous systemlcsh:QDevelopmental BiologyNeurosciencePLoS ONE
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Research of cardiomyocyte precursors in adult rat heart

2006

Recent reports supported the existence of stem cells in adult hearts. However, phenotype and localization of these cells have not been completely described and it is unknown if cardiac regenerative potential differs from one subject to another. The aims of our work were to identify different populations of cardiac stem cells by the analysis of specific markers and to evaluate the expression variability of these markers in 12 adult rat hearts. The expression of CD9, taube nuss and nanog suggests the presence of stem cells from the earliest stages of embryogenesis in adult myocardium. Their different expression could be associated to the degree of stem cell differentiation. CD34 and c-Kit ant…

MalePathologymedicine.medical_specialtyCellular differentiationAntigens CD34Nerve Tissue ProteinsBiologyNestinStem cells heart expression rat.Intermediate Filament ProteinsmedicineAnimalsCell LineageMyocytes CardiacAntigensRats WistarStem cell transplantation for articular cartilage repairInduced stem cellsMyocardiumStem CellsEndothelial CellsCell DifferentiationAmniotic stem cellsCell BiologyGeneral MedicineGATA4 Transcription FactorRatsEndothelial stem cellProto-Oncogene Proteins c-kitAmniotic epithelial cellsStem cellDevelopmental BiologyAdult stem cellTissue and Cell
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Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

2014

International audience; Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20–25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 micro-deletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis. Review of previously r…

MalePathologymedicine.medical_specialtyContracture[SDV]Life Sciences [q-bio]Locus (genetics)FOXP1BiologyMicedistal limb contracturessymbols.namesakeExonEIF4E3Intellectual disabilityGeneticsmedicineAnimalsHumans[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]3p141p13 microdeletionGenetics (clinical)ArthrogryposisChromosome AberrationsMice KnockoutSanger sequencingGeneticsComparative Genomic Hybridization[ SDV ] Life Sciences [q-bio]ExtremitiesForkhead Transcription FactorsSyndromeFOXP1Microdeletion syndromemedicine.diseaseBlepharophimosisPhenotypeRepressor Proteins[SDV] Life Sciences [q-bio]array-CGH[ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]symbolsFemale[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Chromosomes Human Pair 3FranceCarrier Proteinsintronic regulatory sequenceAmerican Journal of Medical Genetics Part A
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