Search results for "binding proteins"

showing 10 items of 911 documents

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

2020

BackgroundThe regulation of the chromatin state by epigenetic mechanisms plays a central role in gene expression, cell function, and maintenance of cell identity. Hereditary disorders of chromatin regulation are a group of conditions caused by abnormalities of the various components of the epigenetic machinery, namely writers, erasers, readers, and chromatin remodelers. Although neurological dysfunction is almost ubiquitous in these disorders, the constellation of additional features characterizing many of these genes and the emerging clinical overlap among them indicate the existence of a community of syndromes. The introduction of high-throughput next generation sequencing (NGS) methods f…

Adenosine TriphosphataseAdultMaleCCCTC-Binding FactorTranscription FactorDNA-Binding Proteinchromatin disorderComputational biologyBiologyDNA HelicaseDNA sequencingEpigenesis GeneticMendelian chromatin disordersLocus heterogeneityDe Lange SyndromeGeneticsmedicineCoffin-Lowry SyndromeHumansGenetic Predisposition to DiseaseEpigeneticsGenetic TestingChildGeneGenetics (clinical)Adenosine Triphosphatasesnext generation sequencingepigeneticsGenetic heterogeneityDNA HelicasesMendelian chromatin disorderHistone-Lysine N-Methyltransferasemedicine.diseaseChromatinChromatinDNA-Binding ProteinsMendelian chromatin disorders; epigenetics; next generation sequencingCohortMutationRelated disorderFemaleMyeloid-Lymphoid Leukemia ProteinepigeneticTranscription FactorsHuman
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Genome-wide characterization of chromatin binding and nucleosome spacing activity of the nucleosome remodelling ATPase ISWI.

2010

The evolutionarily conserved ATP-dependent nucleosome remodelling factor ISWI can space nucleosomes affecting a variety of nuclear processes. In Drosophila, loss of ISWI leads to global transcriptional defects and to dramatic alterations in higher-order chromatin structure, especially on the male X chromosome. In order to understand if chromatin condensation and gene expression defects, observed in ISWI mutants, are directly correlated with ISWI nucleosome spacing activity, we conducted a genome-wide survey of ISWI binding and nucleosome positioning in wild-type and ISWI mutant chromatin. Our analysis revealed that ISWI binds both genic and intergenic regions. Remarkably, we found that ISWI…

Adenosine TriphosphatasesMaleChromatin ImmunoprecipitationX ChromosomeD. melanogasterSettore INF/01 - Informaticachromatin remodellingGenomicsChromatin Assembly and DisassemblyArticleNucleosomesDNA-Binding ProteinsISWInucleosome spacingGene Expression RegulationSettore BIO/10 - BiochimicaAnimalsDrosophila ProteinsDrosophilaPromoter Regions GeneticCrosses GeneticProtein BindingTranscription FactorsThe EMBO journal
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Regulatory T cell-derived adenosine induces dendritic cell migration through the Epac-Rap1 pathway.

2014

Abstract Dendritic cells (DC) are one target for immune suppression by regulatory T cells (Treg), because their interaction results in reduced T cell stimulatory capacity and secretion of inhibitory cytokines in DC. We show that DC in the presence of Treg are more mobile as compared with cocultures with conventional CD4+ T cells and form DC–Treg aggregates within 2 h of culture. The migration of DC was specifically directed toward Treg, as Treg, but not CD4+ T cells, attracted DC in Boyden chambers. Treg deficient for the ectonucleotidase CD39 were unable to attract DC. Likewise, addition of antagonists for A2A adenosine receptors abolished the formation of DC–Treg clusters, indicating a ro…

AdenosineRegulatory T cellT cellImmunologyMedizinchemical and pharmacologic phenomenaCell CommunicationBiologyT-Lymphocytes RegulatoryMiceAdenosine TriphosphateAntigens CDCell MovementmedicineImmunology and AllergyAnimalsGuanine Nucleotide Exchange FactorsDendritic cell migrationReceptors Adenosine A2Apyraserap1 GTP-Binding Proteinshemic and immune systemsDendritic CellsActin cytoskeletonAdenosineAdenosine receptorCell biologyActin Cytoskeletonmedicine.anatomical_structureRap1Signal transductionmedicine.drugSignal TransductionJournal of immunology (Baltimore, Md. : 1950)
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Stat3 and Gfi-1 Transcription Factors Control Th17 Cell Immunosuppressive Activity via the Regulation of Ectonucleotidase Expression

2012

International audience; Although Th17 cells are known to promote tissue inflammation and autoimmunity, their role during cancer progression remains elusive. Here, we showed that in vitro Th17 cells generated with the cytokines IL-6 and TGF-β expressed CD39 and CD73 ectonucleotidases, leading to adenosine release and the subsequent suppression of CD4(+) and CD8(+) T cell effector functions. The IL-6-mediated activation of the transcription factor Stat3 and the TGF-β-driven downregulation of Gfi-1 transcription factor were both essential for the expression of ectonucleotidases during Th17 cell differentiation. Stat3 supported whereas Gfi-1 repressed CD39 and CD73 expression by binding to thei…

Adoptive cell transferMESH : Transcription FactorsCellular differentiationMESH: Th17 CellsT-LymphocytesCellMESH : Promoter Regions GeneticMESH : RNA Small InterferingMESH: Mice KnockoutMice0302 clinical medicineTransforming Growth Factor betaMESH: RNA Small InterferingMESH : STAT3 Transcription FactorImmunology and Allergy[ SDV.IMM ] Life Sciences [q-bio]/ImmunologyEctonucleotidaseMESH: AnimalsRNA Small InterferingSTAT3MESH: Lymphocytes Tumor-InfiltratingPromoter Regions GeneticMESH: Antigens CD5'-NucleotidaseRegulation of gene expressionMice Knockout0303 health sciencesMESH : Gene Expression RegulationApyraseMESH: STAT3 Transcription FactorMESH: Transcription FactorsMESH: Gene Expression RegulationMESH : Mice TransgenicCell biologyMESH : Lymphocytes Tumor-InfiltratingDNA-Binding ProteinsMESH : ApyraseInfectious Diseasesmedicine.anatomical_structure[SDV.IMM]Life Sciences [q-bio]/ImmunologyMESH : DNA-Binding ProteinsMESH: ApyraseSTAT3 Transcription Factor[SDV.IMM] Life Sciences [q-bio]/ImmunologyMESH : Interleukin-6MESH: Mice TransgenicT cellImmunologyMice TransgenicMESH : Mice Inbred C57BLBiology03 medical and health sciencesLymphocytes Tumor-InfiltratingMESH: Mice Inbred C57BLAntigens CDMESH: Promoter Regions GeneticMESH : 5'-NucleotidaseMESH : MicemedicineMESH : Antigens CDMESH : Th17 CellsAnimalsTranscription factorMESH: MiceMESH: Transforming Growth Factor beta030304 developmental biologyMESH : T-LymphocytesBinding SitesInterleukin-6MESH: Interleukin-6Mice Inbred C57BLMESH: T-LymphocytesMESH : Transforming Growth Factor betaMESH: Binding SitesGene Expression Regulationbiology.proteinMESH : Mice KnockoutTh17 CellsMESH : AnimalsMESH: 5'-NucleotidaseMESH: DNA-Binding ProteinsMESH : Binding Sites030215 immunologyTranscription FactorsImmunity
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A Critical Regulatory Role of Leucin Zipper Transcription Factor c-Maf in Th1-Mediated Experimental Colitis

2004

Abstract In this study, we investigated the role of c-Maf, a transcription factor known to induce IL-4 production, in inflammatory bowel diseases and experimental colitis. Although Crohn′s disease (CD) is associated with low IL-4 production by T-bet-expressing Th1 cells in the lamina propria, surprisingly a higher expression of c-Maf in these cells was found as compared with control patients. The relevance of this finding was further evaluated in an animal model of CD induced by adoptive transfer of CD4+CD62L+ T cells in RAG-deficient mice. In this Th1-mediated model, an increase of c-Maf-expressing T lymphocytes in the lamina propria over time was observed. Interestingly, adoptive transfer…

Adoptive cell transferTransgeneImmunologyTCIRG1MiceInterleukin 21Crohn DiseaseProto-Oncogene ProteinsmedicineAnimalsHumansImmunology and AllergyIL-2 receptorL-SelectinColitisTranscription factorHomeodomain ProteinsMice KnockoutLamina propriabusiness.industryhemic and immune systemsTh1 CellsColitismedicine.diseaseMolecular biologyDNA-Binding ProteinsDisease Models Animalmedicine.anatomical_structureProto-Oncogene Proteins c-mafImmunologybusinessImmunologic MemoryThe Journal of Immunology
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The role of nesfatin and selected molecular factors in various types of endometrial cancer

2019

Objectives: Endometrial cancers (ECs) are the most common gynaecological cancers in well developed countries. Diabetes and metabolic syndrome are among the biggest risk factors. Nesfatin-1, the adipokine derivative of NUCB2 (nucleobindin derivative 2) is linked to the clinical course of EC. Molecular factors, including mutations in MLH1 and MHS2 genes, c-MET and ARID1A are also related to prognosis in endometrial cancer. Material and methods: Using sections of paraffin-embedded preparations and immunohistochemistry, the expression of NESF1, MLH1, MSH2,c-MET and ARID1A were examined. Results: In this study on protein expression, EC tissues manifested (although insignificantly) an elevated ex…

AdultC-MetARID1AAdipokineMLH1chemistry.chemical_compoundNESF-1Biomarkers TumormedicineHumansNucleobindinsc-METAgedRetrospective StudiesAged 80 and overbusiness.industryEndometrial cancerMLH1Obstetrics and GynecologyMiddle AgedPrognosismedicine.diseaseARID1AImmunohistochemistryMSH2Endometrial NeoplasmsDNA-Binding ProteinschemistryMSH2endometrial cancerCancer researchImmunohistochemistryFemaleMetabolic syndromebusinessTranscription FactorsGinekologia Polska
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The transcription factor IFN regulatory factor–4 controls experimental colitis in mice via T cell–derived IL-6

2008

The proinflammatory cytokine IL-6 seems to have an important role in the intestinal inflammation that characterizes inflammatory bowel diseases (IBDs) such as Crohn disease and ulcerative colitis. However, little is known about the molecular mechanisms regulating IL-6 production in IBD. Here, we assessed the role of the transcriptional regulator IFN regulatory factor-4 (IRF4) in this process. Patients with either Crohn disease or ulcerative colitis exhibited increased IRF4 expression in lamina propria CD3+ T cells as compared with control patients. Consistent with IRF4 having a regulatory function in T cells, in a mouse model of IBD whereby colitis is induced in RAG-deficient mice by transp…

AdultCD4-Positive T-LymphocytesMaleAdoptive cell transferRecombinant Fusion ProteinsT-LymphocytesCD3T cellAdoptive Transfer; Adult; Animals; Apoptosis; CD4-Positive T-Lymphocytes; Colitis; Cytokines; DNA-Binding Proteins; Female; Gene Expression Regulation; Humans; Inflammatory Bowel Diseases; Interferon Regulatory Factors; Interleukin-6; Intestinal Mucosa; Male; Mice; Mice Inbred C57BL; Mice Knockout; Middle Aged; Oxazolone; Receptors Interleukin-6; Recombinant Fusion Proteins; T-Lymphocytes; Trinitrobenzenesulfonic AcidApoptosisProinflammatory cytokineMiceIntestinal mucosamedicineAnimalsHumansIntestinal MucosaColitisInterleukin 6Mice KnockoutbiologyInterleukin-6OxazoloneGeneral MedicineMiddle AgedColitisInflammatory Bowel Diseasesmedicine.diseaseAdoptive TransferReceptors Interleukin-6Ulcerative colitisDNA-Binding ProteinsMice Inbred C57BLmedicine.anatomical_structureGene Expression RegulationTrinitrobenzenesulfonic AcidInterferon Regulatory FactorsImmunologybiology.proteinCytokinesFemaleResearch ArticleJournal of Clinical Investigation
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CD28-dependent Rac1 activation is the molecular target of azathioprine in primary human CD4+ T lymphocytes

2003

Azathioprine and its metabolite 6-mercaptopurine (6-MP) are immunosuppressive drugs that are used in organ transplantation and autoimmune and chronic inflammatory diseases such as Crohn disease. However, their molecular mechanism of action is unknown. In the present study, we have identified a unique and unexpected role for azathioprine and its metabolites in the control of T cell apoptosis by modulation of Rac1 activation upon CD28 costimulation. We found that azathioprine and its metabolites induced apoptosis of T cells from patients with Crohn disease and control patients. Apoptosis induction required costimulation with CD28 and was mediated by specific block- ade of Rac1 activation thro…

AdultCD4-Positive T-LymphocytesSTAT3 Transcription Factorrac1 GTP-Binding Proteinmedicine.medical_specialtyApoptosisRAC1AzathioprineProtein Serine-Threonine KinasesBiologyLymphocyte ActivationOrgan transplantationTioguanineCD28 AntigensAzathioprinemedicineHumansPhosphorylationProtein kinase ACells CulturedAgedKinaseCD28General MedicineMiddle AgedI-kappa B KinaseDNA-Binding ProteinsApoptosisImmunologyTrans-ActivatorsCommentaryCancer researchImmunosuppressive Agentsmedicine.drugJournal of Clinical Investigation
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Azathioprine suppresses ezrin-radixin-moesin-dependent T cell-APC conjugation through inhibition of Vav guanosine exchange activity on rac proteins

2006

Abstract We have shown recently that the azathioprine metabolite 6-Thio-GTP causes immunosuppression by blockade of GTPase activation in T lymphocytes. In the present study, we describe a new molecular mechanism by which 6-Thio-GTP blocks GTPase activation. Although 6-Thio-GTP could bind to various small GTPases, it specifically blocked activation of Rac1 and Rac2 but not of closely related Rho family members such as Cdc42 and RhoA in primary T cells upon stimulation with αCD28 or fibronectin. Binding of 6-Thio-GTP to Rac1 did not suppress Rac effector coupling directly but blocked Vav1 exchange activity upon 6-Thio-GTP hydrolysis, suggesting that 6-Thio-GTP loading leads to accumulation of…

AdultCD4-Positive T-LymphocytesVAV1RHOAT cellImmunologyBlotting WesternAntigen-Presenting CellsFluorescent Antibody TechniqueRAC1ApoptosisEnzyme-Linked Immunosorbent AssayGTPaseCell CommunicationBiologyArticleAzathioprinemedicineImmunology and AllergyHumansAntigen-presenting cellProto-Oncogene Proteins c-vavNeurofibromin 2Flow CytometryMolecular biologyCell biologyrac GTP-Binding ProteinsRac GTP-Binding ProteinsEnzyme Activationmedicine.anatomical_structurebiology.proteinSignal transductionImmunosuppressive Agents
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Prospective study on cervical neoplasia IV. Presence of HPV antibodies.

1999

Sera collected in the course of a prospective study carried out in Prague in 1975–1983 were assayed for the presence of human papillomavirus (HPV) antibodies. Women with cervical neoplasia proven by biopsy at enrollment possessed antibodies to peptides derived from E2, E4 and E7 proteins of HPV16 and to virus-like particles (VLPs) of HPV16, -18 and -33 significantly more frequently than matched controls. Women without cervical neoplasia at enrollment who developed the disease in the course of the study differed from matched controls by a higher prevalence of antibodies against VLPs of HPV16 and -18 but not against early antigens of HPV16. In 19 of the latter subjects, paired serum specimens…

AdultCancer Researchmedicine.medical_specialtyvirusesPapillomavirus E7 ProteinsUterine Cervical NeoplasmsAntibodies ViralGastroenterologySerologyAntigenInternal medicineBiopsymedicineHumansProspective StudiesSeroconversionProspective cohort studyPapillomaviridaebiologymedicine.diagnostic_testbusiness.industryvirus diseasesCancerOncogene Proteins ViralMiddle Agedmedicine.diseasefemale genital diseases and pregnancy complicationsDNA-Binding ProteinsOncologyImmunologybiology.proteinFemaleViral diseaseAntibodybusinessBiomarkersInternational journal of cancer
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