Search results for " Transcription"

showing 10 items of 810 documents

Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis

2011

Screening of the known candidate genes involved in thyroid organogenesis has revealed mutations in a small subset of patients with congenital hypothyroidism due to thyroid dysgenesis (TD).We studied a girl with TD who had mutations in two transcription factors involved in thyroid development.Sequencing analysis of candidate genes involved in thyroid gland development revealed a new paternally inherited heterozygous mutation in the NKX2.5 gene (S265R) and a new maternally inherited heterozygous mutation in the PAX8 promoter region (-456CT). Both parents and a brother, who was also heterozygous for both mutations, were phenotypically normal. Immunofluorescence microscopy showed a correct nucl…

medicine.medical_specialtyendocrine systemendocrine system diseasesEndocrinology Diabetes and Metabolismmedicine.medical_treatmentClinical BiochemistryBiologyGene mutationDominant-Negative Mutationmedicine.disease_causeBiochemistryThyroid dysgenesisPAX8 Transcription FactorEndocrinologyInternal medicinemedicineCongenital HypothyroidismHumansPaired Box Transcription FactorsPromoter Regions GeneticGeneticsHomeodomain ProteinsMutationBiochemistry (medical)ThyroidJCEM Online: Brief Reportsmedicine.diseaseCongenital hypothyroidismmedicine.anatomical_structureEndocrinologyMutationThyroid DysgenesisCancer researchHomeobox Protein Nkx-2.5ThyroglobulinFemalePAX8Transcription Factors
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Differences in cytomegalovirus plasma viral loads measured in allogeneic hematopoietic stem cell transplant recipients using two commercial real-time…

2010

5 páginas, 3 figuras.

medicine.medical_treatmentCongenital cytomegalovirus infectionCytomegalovirusHematopoietic stem cell transplantationHematopoietic stem cell transplantationBiologyPolymerase Chain ReactionAutomationPlasmaVirologymedicineHumansViral loadHematopoietic Stem Cell Transplantationvirus diseasesViral LoadUniversity hospitalmedicine.diseaseVirologyDNA extractionAllogeneic stem cell transplantReverse transcription polymerase chain reactionInfectious DiseasesReal-time polymerase chain reactionSpainImmunologyCytomegalovirus InfectionsAllogeneic hematopoietic stem cell transplantViral loadReal-time PCRJournal of clinical virology : the official publication of the Pan American Society for Clinical Virology
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IL-27 controls the development of inducible regulatory T cells and Th17 cells via differential effects on STAT1

2007

IL-27 is an IL-12-related cytokine frequently present at sites of inflammation that can promote both anti- and pro-inflammatory immune responses. Here, we have analyzed the mechanisms how IL-27 may drive such divergent immune responses. While IL-27 suppressed the development of proinflammatory Th17 cells, a novel role for this cytokine in inhibiting the development of anti-inflammatory, inducible regulatory T cells (iTreg) was identified. In fact, IL-27 suppressed the development of adaptive, TGF-beta-induced Forkhead box transcription factor p3-positive (Foxp3(+)) Treg. Whereas the blockade of Th17 development was dependent on the transcription factor STAT1, the suppression of iTreg develo…

medicine.medical_treatmentImmunologyMice Transgenicchemical and pharmacologic phenomenaInflammationBiologyT-Lymphocytes RegulatoryProinflammatory cytokineMiceImmune systemT-Lymphocyte SubsetsmedicineAnimalsImmunology and AllergySTAT1IL-2 receptorTranscription factorInterleukinsFOXP3Forkhead Transcription FactorsFlow CytometryCoculture TechniquesCell biologySTAT1 Transcription FactorCytokineImmunologybiology.proteinmedicine.symptomEuropean Journal of Immunology
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The E3 Ubiquitin Ligase MID1 Catalyzes Ubiquitination and Cleavage of Fu

2014

Sonic Hedgehog (SHH)-GLI signalling plays an important role during embryogenesis and in tumorigenesis. The survival and growth of several types of cancer depend on autonomously activated SHH-GLI signalling. A protein complex containing the ubiquitin-ligase MID1 and protein phosphatase 2A (PP2A) regulates the nuclear localization and transcriptional activity of GLI3, a transcriptional effector molecule of SHH, in cancer cell lines with autonomously activated SHH signalling. However, the exact molecular mechanisms that mediate the interaction between MID1 and GLI3 remained unknown. Here, we show that MID1 catalyses the ubiquitination and proteasomal cleavage of the GLI3-regulator Fu. Our data…

metabolism [Microtubule Proteins]Ubiquitin-conjugating enzymeBiochemistrymetabolism [Protein Serine-Threonine Kinases]Ubiquitinmetabolism [Transcription Factors]Nuclear proteinSonic hedgehogbiologymetabolism [Protein-Serine-Threonine Kinases]Nuclear Proteinsrespiratory systemProtein-Serine-Threonine KinasesUbiquitin ligaseGene Expression Regulation NeoplasticGLI3 protein humanBiochemistryddc:540embryonic structuresMicrotubule Proteinsmetabolism [Hedgehog Proteins]Function and Dysfunction of the Nervous Systemmetabolism [Nuclear Proteins]Signal Transductionmetabolism [Kruppel-Like Transcription Factors]Proteasome Endopeptidase Complexanimal structuresSTK36 protein humanUbiquitin-Protein LigasesKruppel-Like Transcription FactorsNerve Tissue ProteinsProtein Serine-Threonine Kinaseschemistry [Ubiquitin-Protein Ligases]CatalysisZinc Finger Protein Gli3Cell Line TumorGLI3HumansHedgehog Proteinsmetabolism [Proteasome Endopeptidase Complex]metabolism [Cell Nucleus]Molecular Biologychemistry [Lysine]DNA PrimersCell Nucleusmetabolism [Nerve Tissue Proteins]UbiquitinLysineUbiquitinationCell BiologyProtein phosphatase 2chemistry [Ubiquitin]Proteasomebiology.proteinSHH protein humanhuman activitiesMid1 protein humanHeLa CellsTranscription FactorsJournal of Biological Chemistry
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A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

2011

International audience; So far, no common environmental and/or phenotypic factor has been associated with melanoma and renal cell carcinoma (RCC). The known risk factors for melanoma include sun exposure, pigmentation and nevus phenotypes; risk factors associated with RCC include smoking, obesity and hypertension. A recent study of coexisting melanoma and RCC in the same patients supports a genetic predisposition underlying the association between these two cancers. The microphthalmia-associated transcription factor (MITF) has been proposed to act as a melanoma oncogene; it also stimulates the transcription of hypoxia inducible factor (HIF1A), the pathway of which is targeted by kidney canc…

multidisciplinary sciencesMESH : Germ-Line MutationSUMO proteinurologic and male genital diseasesmedicine.disease_causeMESH : Neoplasm Invasiveness[ SDV.CAN ] Life Sciences [q-bio]/CancerMESH : Carcinoma Renal Cell0302 clinical medicineGene FrequencyCell MovementMESH: Germ-Line MutationMESH : Cell MovementMESH : Gene FrequencyMESH: Cell MovementComputingMilieux_MISCELLANEOUSGenetics0303 health sciencesMultidisciplinaryMESH: SumoylationMelanomaMESH : SumoylationMESH: Genetic Predisposition to Diseaserenal carcinomaMESH: Carcinoma Renal CellMicrophthalmia-associated transcription factorMESH : Microphthalmia-Associated Transcription Factor3. Good healthgermline mutation030220 oncology & carcinogenesisMESH: Microphthalmia-Associated Transcription Factorscience and technologyMESH: MelanomasumoMESH : Melanoma[SDV.CAN]Life Sciences [q-bio]/CancerBiology03 medical and health sciencesGermline mutationmelanomaMESH: Gene FrequencyGenetic predispositionmedicineHumansGenetic Predisposition to DiseaseNeoplasm InvasivenessCarcinoma Renal CellneoplasmsTranscription factorGerm-Line Mutation030304 developmental biologyMicrophthalmia-Associated Transcription FactorMESH: HumansMESH : HumansSumoylationMESH: Neoplasm Invasivenessmedicine.diseaseHIF1Acancer cellsCancer researchMESH : Genetic Predisposition to DiseaseCarcinogenesis
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Myostatin/activin blocking combined with exercise reconditions skeletal muscle expression profile of mdx mice

2015

Duchenne Muscular Dystrophy is characterized by muscle wasting and decreased aerobic metabolism. Exercise and blocking of myostatin/activin signaling may independently or combined counteract muscle wasting and dystrophies. The effects of myostatin/activin blocking using soluble activin receptor-Fc (sActRIIB-Fc) administration and wheel running were tested alone or in combination for seven weeks in dystrophic mdx mice. Expression microarray analysis revealed decreased aerobic metabolism in the gastrocnemius muscle of mdx mice compared to healthy mice. This was not due to reduced home-cage physical activity, and was further downregulated upon sActRIIB-Fc treatment in enlarged muscles. However…

muscular dystrophymedicine.medical_specialtyDuchenne muscular dystrophyActivin Receptors Type IIRecombinant Fusion Proteinsphysical activityMyostatinBiologyta3111BiochemistryMuscle hypertrophy03 medical and health sciencesGastrocnemius muscleMice0302 clinical medicineEndocrinologyoxidative metabolismInternal medicinePhysical Conditioning AnimalGene expressionmedicineSTAT5 Transcription FactorAnimalsmuscle hypertrophyMuscular dystrophyPhosphorylationta315Muscle SkeletalMolecular BiologyWasting030304 developmental biologyInhibin-beta Subunits0303 health sciencesPhysical activitySkeletal muscleMyostatinmusculoskeletal systemmedicine.diseaseMuscular dystrophymRNA profilingEndocrinologymedicine.anatomical_structurebiology.proteinMice Inbred mdxOxidative metabolismMuscle hypertrophymedicine.symptom030217 neurology & neurosurgery
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Osteoprotegerin expression in liver is induced by IL-13 through TGF-β

2020

1.AbstractBackgroundsOsteoprotegerin (OPG) is a profibrotic mediator produced by myofibroblasts under influence of transforming growth factor β (TGFβ). Its expression in experimental models of liver fibrosis correlates well with disease severity and treatment responses. The regulation of OPG in liver tissue is largely unknown and we therefore set out to elucidate which growth factors/interleukins associated with fibrosis induce OPG and through which pathways.MethodsPrecision-cut liver slices of wild type and STAT6-deficient mice and 3T3 fibroblasts were used to investigate the effects of TGFβ, interleukin (IL) 13 (IL13), IL1β, and platelet-derived growth factor BB (PDGF-BB) on expression of…

musculoskeletal diseasesChemistryGrowth factormedicine.medical_treatmentmedicine.diseaseAP-1 transcription factorOsteoprotegerinDownregulation and upregulationFibrosisInterleukin 13medicineCancer researchGalunisertibTransforming growth factor
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Targeting of the transcription factor STAT4 by antisense phosphorothioate oligonucleotides suppresses collagen-induced arthritis

2007

Abstract The transcription factor STAT4 mediates signals of various proinflammatory cytokines, such as IL-12, IL-15, and IL-23, that initiate and stabilize Th1 cytokine production. Although Th1 cytokine production has been suggested to play a major pathogenic role in rheumatoid arthritis, the role of STAT4 in this disease is poorly understood. In this study, we demonstrate a key functional role of STAT4 in murine collagen-induced arthritis (CIA). In initial studies we found that STAT4 expression is strongly induced in CD4+ T cells and to a lesser extent in CD11b+ APCs during CIA. To analyze the role of STAT4 for arthritis manifestation, we next investigated the outcome of interfering with S…

musculoskeletal diseasesImmunologyAntigen-Presenting CellsCodon InitiatorArthritisBiologyProinflammatory cytokineArthritis RheumatoidPathogenesisMiceimmune system diseasesmedicineAnimalsImmunology and Allergyskin and connective tissue diseasesSTAT4Cells CulturedMice KnockoutMice Inbred BALB CCD11b Antigenhemic and immune systemsOligonucleotides AntisenseSTAT4 Transcription FactorTh1 CellsThionucleotidesmedicine.diseaseArthritis ExperimentalIntegrin alpha MRheumatoid arthritisImmunologybiology.proteinExperimental pathologyTumor necrosis factor alpha
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Role of the NF-kB pathway and nitric oxide in mammary gland involution after weaning. Implications in breast cancer

2013

INTRODUCCIÓN La glándula mamaria es un órgano dinámico que alcanza su máximo desarrollo funcional con la lactancia, momento en el cual, a través de la producción de leche, aporta nutrientes y protección inmunológica a las crías de los mamíferos. Cuando la lactancia finaliza con el destete, el exceso de tejido glandular debe desaparecer y la glándula sufre una extensa remodelación hasta alcanzar nuevamente un estado pre-gestacional, preparada para un nuevo ciclo. La involución del tejido mamario es un proceso complejo durante el cual se suceden de forma coordinada una serie de eventos como la muerte de las células epiteliales secretoras, la proliferación de tejido adiposo circundante y la re…

nitrotyrosineweaningapoptosiscathepsin DUNESCO::CIENCIAS DE LA VIDA::Biología celularnuclear factor κappa B (NF-κB)mammary gland involutionsignal transducer and activator of transcription (STAT)breast cancer:CIENCIAS DE LA VIDA::Biología celular [UNESCO]inflammationnitric oxideUNESCO::CIENCIAS MÉDICAS::Ciencias clínicas::OncologíaNOS2-KO:CIENCIAS MÉDICAS::Ciencias clínicas::Oncología [UNESCO]
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Comprehensive analysis of interacting proteins and genome-wide location studies of the Sas3-dependent NuA3 histone acetyltransferase complex

2014

Highlights • We characterise Sas3p and Gcn5p active HAT complexes in WT and deleted TAP-strains. • We confirm that Pdp3p interacts with NuA3, histones and chromatin regulators. • Pdp3p MS-analysis reveals its phosphorylation, ubiquitination and methylation. • Sas3p can substitute Gcn5p in acetylation of histone H3K14 but not of H3K9. • Genome-wide profiling of Sas3p supports its involvement in transcriptional elongation.

nt nucleotidePTM post-translational modificationNuA3 histone acetyltransferase complexChIP-on-chip chromatin immunoprecipitation with genome-wide location arraysBiologyArticleGeneral Biochemistry Genetics and Molecular BiologyChromatin remodelingHistonesHistone H3NuA3 nucleosomal acetyltransferase of histone H3Histone H1Histone H2APdp3TAP–MS strategyHistone codelcsh:QH301-705.5TAP tandem affinity purificationGeneticsRNAPII RNA polymerase IIHistone acetyltransferaseWCE whole cell extractSAGA Spt-Ada-Gcn acetyltransferaseWT wild-typeChromatinYeastCell biologyChIP-on-chiplcsh:Biology (General)Histone methyltransferasebiology.proteinHAT histone acetyltransferaseTSS transcription start siteFEBS Open Bio
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