Search results for "Promoter"

showing 10 items of 584 documents

Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets

2020

Autosomal recessive mutations in genes required for cytotoxicity are causative of a life-threatening, early-onset hyperinflammatory syndrome termed familial hemophagocytic lymphohistiocytosis (FHL). Mutations in UNC13D cause FHL type 3. UNC13D encodes Munc13-4, a member of the Unc13 protein family which control SNARE complex formation and vesicle fusion. We have previously identified FHL3-associated mutations in the first intron of UNC13D which control transcription from an alternative transcriptional start site. Using isoform specific antibodies, we demonstrate that this alternative Munc13-4 isoform with a unique N-terminus is preferentially expressed in human lymphocytes and platelets, as…

lcsh:Immunologic diseases. Allergyfamilial hemophagocytic lymphohistiocytosis type 3lymphocyte cytotoxicityUNC13Dprimary immunodeficiencyintronic mutationlcsh:RC581-607alternative intronic promoter/isoformFrontiers in Immunology
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Molecular cloning and characterization of the complementary DNA coding for the B-chain of murine Clq

1989

AbstractcDNA clones coding for the B-chain of murine Clq were isolated from a mouse macrophage library. The characterized clones include the total coding region plus a leader sequence. High homology was found with human Clq B-chain in the coding region (81%). Northern blot analysis of total RNA from different tissues of Balb/c mice showed one band of approximately 1.2 kb. The highest signal was found in RNA preparations of thioglycolate-activated peritoneal macrophages. The probe also hybridized with mRNA from spleen, thymus and heart. Extremely weak signals were found in liver, kidney, lung and intestine tissues.

mRNAMolecular Sequence DataBiophysicsProtein Sorting SignalsMolecular cloningBiologyBiochemistryMiceStructural BiologySequence Homology Nucleic AcidComplementary DNAGeneticsAnimalsHumansCoding regionGenomic libraryRNA MessengerNorthern blotCloning MolecularPromoter Regions GeneticMolecular BiologyGeneMice Inbred BALB CMessenger RNAComplement C1qNucleic Acid HybridizationRNADNARNA ProbesCell BiologyBlotting NorthernMolecular biologyClqNucleotide sequenceCloningFEBS Letters
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NF-ĸB as node for signal amplification during weaning.

2011

Post-lactational involution has been reported to share common features with breast tumor development. A deep characterization of the signaling triggered after weaning would help to unveil the complex relationship between involution and breast cancer. NF-κB, a crucial factor in the involuting gland, might be an important regulatory node for signal amplification after weaning; however there is limited information about the identity of NF-κB-target genes and the molecular mechanisms leading to the selection of genes involved in a particular biological process. We identified 4532 target genes in mammary gland at 48h weaning, by genome-wide analysis of regions bound by RelA(p65)-NF-κB in vivo. I…

medicine.medical_specialtyChromatin ImmunoprecipitationPhysiologyMammary glandWeaningBiologyMiceMammary Glands AnimalInternal medicineGene expressionmedicineWeaningAnimalsInvolution (medicine)GeneMammary gland involutionBinding SitesNF-kappa BTranscription Factor RelAPromoterChIP-on-chipCell biologymedicine.anatomical_structureEndocrinologyGene Expression RegulationFemaleE1A-Associated p300 ProteinGenome-Wide Association StudyProtein BindingCellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology
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Weaning induces NOS-2 expression through NF-κB modulation in the lactating mammary gland: importance of GSH

2005

Zaragozá, R; Miralles, VJ; Rus, AD; García, C; Carmena, R; García-Trevijano, ER; Barber, T; Pallardó, FV; Torres, L; Viña, JR. At the end of lactation the mammary gland undergoes involution, a process characterized by apoptosis of secretory cells and tissue remodelling. To gain insight into this process, we analysed the gene expression profile by oligonucleotide microarrays during lactation and after forced weaning. Up-regulation of inflammatory mediators and acute-phase response genes during weaning was found. Expression of IκBα (inhibitory κBα), a protein known to modulate NF-κB (nuclear factor-κB) nuclear translocation, was significantly up-regulated. On the other hand, there was a time-…

medicine.medical_specialtyMammary glandDown-RegulationNitric Oxide Synthase Type IIWeaninglactationBiologyBiochemistryNF-κBMammary Glands AnimalWestern blotnitric oxideInternal medicineLactationGene expressionmedicineGSHinvolutionWeaningAnimalsInvolution (medicine)Rats WistarPromoter Regions GeneticMolecular Biologymedicine.diagnostic_test:CIENCIAS DE LA VIDA::Bioquímica [UNESCO]Gene Expression ProfilingNF-kappa BUNESCO::CIENCIAS DE LA VIDA::BioquímicaCell BiologyGlutathioneRatsUp-RegulationIκBαProtein Transportmedicine.anatomical_structureEndocrinologyEnzyme InductionFemaleChromatin immunoprecipitationProtein BindingResearch Article
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Prosurvival effect of human wild-type alpha-synuclein on MPTP-induced toxicity to central but not peripheral catecholaminergic neurons isolated from …

2010

In the present work we report the generation of a new line of alpha-synuclein (alpha-SYN) transgenic mice in which the human wild-type alpha-SYN cDNA is expressed under the control of a tyrosine hydroxylase (TH) promoter. We provide evidence that the ectopic protein is found in TH expressing neurons of both central and peripheral nervous systems. The transgene is expressed very early in development coinciding with the activity of the TH promoter and in the adult brain the human protein distributes normally to the nerve endings and cell bodies of dopaminergic nigral neurons without any evidence of abnormal aggregation. Our results indicate that expression of human wild-type alpha-SYN does no…

medicine.medical_specialtySympathetic Nervous SystemTyrosine 3-MonooxygenaseTransgeneMice Transgenicchemistry.chemical_compoundMiceCatecholaminesDopamineMesencephalonInternal medicinemedicineNeurotoxinAnimalsHumansTransgenesPromoter Regions GeneticCells CulturedDopamine transporterNeuronsDopamine Plasma Membrane Transport ProteinsTyrosine hydroxylasebiologyCell DeathGeneral NeuroscienceMPTPDopaminergicBrainEndocrinologynervous systemchemistry1-Methyl-4-phenyl-1236-tetrahydropyridineOrgan Specificitybiology.proteinalpha-SynucleinCatecholaminergic cell groupsmedicine.drugNeuroscience
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Regulation of PTHrP and PTH/PTHrP receptor by extracellular Ca2+ concentration and hormones in the breast cancer cell line 8701-BC.

2000

AbstractIt was previously reported that 8701-BC breast tumour cells express the gene for parathyroid hormonerelated peptide (PTHrP) and PTH/PTHrP receptor (PTHrPR) and release immunoreactive PTHrP (iPTHrP) into the extracellular medium. Since the regulation of PTHrP and PTHrPR by breast cancer cells has been poorly investigated so far, we have chosen the 8701- BC cell line as a model system to investigate whether alterations in the extracellular Ca[2+] concentration ([Ca[2+]]) and treatment with some wellknown differentiation agents for breast cells, such as dimethyl sulfoxide, hydrocortisone, progesterone, prolactin, alltrans retinoic acid and transforming growth factorβ1 might (i) modulat…

medicine.medical_specialtyTranscription GeneticRNA SplicingClinical BiochemistryRetinoic acidCodon InitiatorBreast NeoplasmsTretinoinBiochemistrychemistry.chemical_compoundTranscription (biology)Transforming Growth Factor betaInternal medicinemedicineExtracellularTumor Cells CulturedHumansProtein IsoformsRNA MessengerPromoter Regions GeneticMolecular BiologyGeneChemistryParathyroid Hormone-Related ProteinProteinsProlactinHormonesNeoplasm ProteinsEndocrinologyGene Expression RegulationCell cultureRNA splicingReceptors Parathyroid HormoneCalciumExtracellular Spacehormones hormone substitutes and hormone antagonistsHormoneBiological chemistry
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Potential role of the neuropeptide CGRP in the induction of differentiation of rat hepatic portal vein wall.

2005

The media of the rat hepatic portal vein is composed of an internal circular muscular layer (CL) and an external longitudinal muscular layer (LL). These two perpendicular layers differentiate progressively from mesenchymal cells within the first month after birth. In this paper, we studied the development of calcitonin gene-related peptide (CGRP) innervation during post-natal differentiation of the vessel. We show that CGRP innervation is already present around the vessel at birth in the future adventitia but far from the lumen of the vessel. Progressively, CGRP immunoreactive fibers reached first LL then CL. CL by itself become only innervated at day 14 after birth. This corresponds to the…

medicine.medical_specialtyVascular smooth musclePhysiologyCalcitonin Gene-Related PeptideRecombinant Fusion ProteinsImmunocytochemistryMyocytes Smooth MuscleGene ExpressionCalcitonin gene-related peptideBiologyTransfectionBiochemistryMuscle Smooth VascularCell LineMuscular layerCellular and Molecular NeuroscienceMiceEndocrinologyInternal medicineAdventitiaMyosinmedicineAnimalsHumansRats WistarLuciferasesPromoter Regions GeneticBinding SitesMyosin Heavy ChainsPortal VeinNeuropeptidesAge FactorsCell DifferentiationImmunohistochemistryRatsEndocrinologymedicine.anatomical_structureLiverConnective TissueDesminHepatic portal veinRabbitsPeptides
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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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Dendritic Cell-Specific Biolistic Transfection Using the Fascin Gene Promoter

2012

The transcriptional targeting of gene expression to selected cells by cell type-specific promoters displays a fundamental tool in gene therapy. In immunotherapy, dendritic cells (DCs) are pivotal for the elicitation of antigen-specific immune responses following gene gun-mediated biolistic transfection. Here we report on transcriptional targeting of murine skin DCs using plasmids which include the promoter of the gene of the cytoskeletal protein fascin to control antigen production. Fascin, which is mandatory for the formation of dendrites, is synthesized among the hematopoietic cells exclusively by activated DCs. The activity of the promoter of the fascin gene reflects the endogenous produ…

medicine.medical_treatmentGenetic enhancementchemical and pharmacologic phenomenaPromoterImmunotherapyDendritic cellTransfectionBiologyGene expressionmedicinebiology.proteinCancer researchGeneFascin
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Frequency of polymorphisms of signal peptide of TGF-beta1 and -1082G/A SNP at the promoter region of Il-10 gene in patients with carotid stenosis

2006

The role of inflammation in atherosclerosis is well recognized. We have evaluated the allele frequencies of the +869T/C and +915G/C polymorphisms (SNPs) at the TGF-beta1 gene and -1082G/A SNP at IL-10 promoter sequence, two well-known immunosuppressive and anti-inflammatory cytokines, in patients with carotid stenosis. Our data suggest a lack of association between these SNPs and the susceptibility to atherosclerosis although other reports have demonstrated this association. These results may be due to the pleiotropic effects of the cytokines and/or differences in haplotype combination that should be investigated to elucidate the role of TGF-beta1 and IL-10 polymorphisms in atherosclerosis.

medicine.medical_treatmentSNPSingle-nucleotide polymorphismInflammationProtein Sorting SignalsBioinformaticsPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyTransforming Growth Factor beta1atherosclerosiHistory and Philosophy of ScienceGene FrequencyPolymorphism (computer science)Transforming Growth Factor betacytokineMedicineSNPHumansCarotid StenosisPromoter Regions GeneticAllele frequencyAgedAged 80 and overPolymorphism Geneticbusiness.industryGeneral NeuroscienceHaplotypePromoterSequence Analysis DNAMiddle AgedInterleukin-10carotid stenosiCytokineImmunologyIL-10medicine.symptombusinessTGF-beta 1
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