Search results for "Enhancer"

showing 10 items of 148 documents

Polymorphism of immunoglobulin enhancer element HS1,2A: allele *2 associates with systemic sclerosis. Comparison with HLA‐DR and DQ allele frequency

2007

OBJECTIVE: To investigate the relationship of the polymorphic enhancer HS1,2 central to the 3' enhancer complex regulatory region (IgH3'EC) of the immunoglobulin heavy chain genes with systemic sclerosis (SSc) disease and compare it with HLA-DR and DQ associations. METHODS: A total of 116 patients with SSc were classified as diffuse (dSSc) or limited (lSSc), and as carriers of antitopoisomerase I (anti-Scl70) or anticentromere (ACA) antibodies. Allele and genotype frequencies were assessed in the population as a whole and in the two major subsets, dSSc and lSSc. The concentration of peripheral blood immunoglobulin levels was also determined and analysed according to the genotypes. RESULTS: …

MaleSettore MED/16 - REUMATOLOGIAsystemic sclerosisclinical evaluationgenotype phenotype correlationHLA DR antigenSclerodermaGene FrequencyGenotypeImmunology and Allergycentromere antibody; HLA DR antigen; immunoglobulin enhancer binding protein; scl 70 antibody; adult; aged; article; clinical evaluation; controlled study; DNA polymorphism; female; gene frequency; genotype phenotype correlation; human; major clinical study; male; priority journal; risk factor; systemic sclerosis; Adult; Aged; Autoantibodies; Enhancer Elements (Genetics); Esophagus; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; HLA-DQ Antigens; HLA-DR Antigens; Humans; Immunoglobulin Heavy Chains; Male; Middle Aged; Phenotype; Polymorphism Genetic; Scleroderma Systemic; Statistics Nonparametric; Stomacheducation.field_of_studycentromere antibodyStatisticsStomacharticleMiddle AgedExtended Reportimmunoglobulin enhancer binding proteinEnhancer Elements GeneticPhenotypepriority journalrisk factorFemaleImmunoglobulin Heavy ChainsAdultGenotypeImmunologyPopulationBiologyGeneral Biochemistry Genetics and Molecular BiologyStatistics NonparametricEsophagusGeneticRheumatologyHLA-DQ AntigensHLA-DRHumanscontrolled studyEnhancer Elements (Genetics)NonparametricGenetic Predisposition to DiseasehumanPolymorphismAlleleeducationEnhancerAllele frequencyAgedAutoantibodiesscl 70 antibodyPolymorphism GeneticScleroderma SystemicSystemicHLA-DR Antigensmajor clinical studyGenotype frequencySettore BIO/18 - GeneticaDNA polymorphismImmunologyImmunoglobulin heavy chain
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Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability

2022

The X-linked gene encoding aristaless-related homeobox (ARX) is a bi-functional transcription factor capable of activating or repressing gene transcription, whose mutations have been found in a wide spectrum of neurodevelopmental disorders (NDDs); these include cortical malformations, paediatric epilepsy, intellectual disability (ID) and autism. In addition to point mutations, duplications of the ARX locus have been detected in male patients with ID. These rearrangements include telencephalon ultraconserved enhancers, whose structural alterations can interfere with the control of ARX expression in the developing brain. Here, we review the structural features of 15 gain copy-number variants …

MaleTranscription FactorUltraconserved enhancersIntellectual disability3D structureCatalysisInorganic ChemistryMiceAnimalsHumansPhysical and Theoretical ChemistryChildMolecular BiologySpectroscopyHomeodomain ProteinsAnimalKDM5C-SYN1 axiOrganic ChemistryKDM5C-SYN1 axisGenes HomeoboxHomeodomain ProteinGeneral MedicineXp21.3 duplicationComputer Science ApplicationsUltraconserved enhancerSettore MED/03 - Genetica MedicaMutationARXHumanTranscription Factors
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Repression of the nuclear receptor small heterodimer partner by steatotic drugs and in advanced nonalcoholic fatty liver disease.

2015

The small heterodimer partner (SHP) (NR0B2) is an atypical nuclear receptor that lacks a DNA-binding domain. It interacts with and inhibits many transcription factors, affecting key metabolic processes, including bile acid, cholesterol, fatty acid, and drug metabolism. Our aim was to determine the influence of steatotic drugs and nonalcoholic fatty liver disease (NAFLD) on SHP expression and investigate the potential mechanisms. SHP was found to be repressed by steatotic drugs (valproate, doxycycline, tetracycline, and cyclosporin A) in cultured hepatic cells and the livers of different animal models of NAFLD: iatrogenic (tetracycline-treated rats), genetic (glycine N-methyltransferase-defi…

MaleTranscription GeneticThiazepinesResponse elementReceptors Cytoplasmic and NuclearBiologyMiceNon-alcoholic Fatty Liver DiseaseCyclosporin amedicineCCAAT-Enhancer-Binding Protein-alphaAnimalsHumansProtein kinase APromoter Regions GeneticTranscription factorCells CulturedPharmacologyMitogen-Activated Protein Kinase 1KinaseValproic AcidFatty liverTetracyclinemedicine.diseaseFatty LiverDoxycyclineCancer researchSmall heterodimer partnerCyclosporineMolecular MedicineSignal transductionSignal TransductionMolecular pharmacology
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Evaluation of the therapeutic potential of PPARalpha agonists for X-linked adrenoleukodystrophy.

2003

Adrenoleukodystrophy protein (ABCD1), a peroxisomal membrane protein, is mutated in patients affected by X-linked adrenoleukodystrophy (X-ALD). Adrenoleukodystrophy-related protein (ABCD2) is the closest relative of ABCD1. Pharmacological induction of ABCD2 gene expression has been proposed as a novel therapy strategy for X-ALD. Fibrates induce peroxisome proliferation and Abcd2 expression in rodent liver. Here we evaluate the possibility of using peroxisome proliferator-activated receptor alpha (PPARalpha) agonists for pharmacological induction of ABCD2 expression. In the liver of PPARalpha-deficient mice, both the constitutive and the fenofibrate-inducible Abcd2 gene expression was found …

Malemedicine.medical_specialtyEndocrinology Diabetes and MetabolismMolecular Sequence DataDrug Evaluation PreclinicalPeroxisome ProliferationReceptors Cytoplasmic and NuclearBiologySulfidesATP Binding Cassette Transporter Subfamily DResponse ElementsBiochemistrychemistry.chemical_compoundMiceEndocrinologyInternal medicineGene expressionGeneticsmedicineAnimalsAdrenoleukodystrophyMolecular BiologyGenePhenylurea CompoundsTetradecylthioacetic acidBrainmedicine.diseaseMolecular biologyIntronsMice Mutant StrainsSterol regulatory element-binding proteinDNA-Binding ProteinsMice Inbred C57BLButyratesSterolsEndocrinologychemistryGene Expression RegulationLiverCCAAT-Enhancer-Binding ProteinsSterol Regulatory Element Binding Protein 1AdrenoleukodystrophyATP-Binding Cassette TransportersSterol regulatory element-binding protein 2Sterol Regulatory Element Binding Protein 1Sterol Regulatory Element Binding Protein 2Transcription FactorsMolecular genetics and metabolism
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Hyaluronic Acid-Based Micelles as Ocular Platform to Modulate the Loading, Release, and Corneal Permeation of Corticosteroids

2017

The aim of this work is to prepare hyaluronic acid-based micelles as a platform to load corticosteroid drugs and to improve their corneal permeation after administration on the ocular surface. Three amphiphilic derivatives of hyaluronic acid (HA) are synthesized using different amounts of hexadecylamine (C16 -NH2 ). HAC16 a, HAC16 b, and HAC16 c derivatives are able to form micelles by the cosolvent evaporation method and to entrap corticosteroids (dexamethasone, triamcinolone, triamcinolone acetonide). HAC16 a and HAC16 b micelles show the best results in terms of drug loading and particle size. They are also able to improve drug release compared to free drug solution or suspension. In add…

Materials Chemistry2506 Metals and AlloysTriamcinolone acetonidePolymers and PlasticsAdministration Ophthalmic02 engineering and technologyTriamcinolone01 natural sciencesMicelleDexamethasoneCorneachemistry.chemical_compoundDrug Delivery SystemsAdrenal Cortex HormonesHyaluronic acidMaterials ChemistryCorticosteroidAminesCells CulturedMicellesDrug CarriersChemistryPermeation021001 nanoscience & nanotechnology0210 nano-technologyDrug carriermedicine.drugBiotechnologyTranscorneal enhancerHyaluronic acidBioengineering010402 general chemistryPermeabilityBiomaterialsPolymeric micelleAmphiphilemedicineMucoadhesionAnimalsHumansGlucocorticoidsPolymers and PlasticOcular administrationBiomaterialHydrocarbons0104 chemical sciencesDrug LiberationSettore CHIM/09 - Farmaceutico Tecnologico ApplicativoBiophysicsCattleEx vivo
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Identification of an Immunogenic Medulloblastoma-Specific Fusion Involving EPC2 and GULP1

2021

Medulloblastoma is the most common malignant brain tumor in children. Immunotherapy is yet to demonstrate dramatic results in medulloblastoma, one reason being the low rate of mutations creating new antigens in this entity. In tumors with low mutational burden, gene fusions may represent a source of tumor-specific neoantigens. Here, we reviewed the landscape of fusions in medulloblastoma and analyzed their predicted immunogenicity. Furthermore, we described a new in-frame fusion protein identified by RNA-Seq. The fusion involved two genes on chromosome 2 coding for the enhancer of polycomb homolog 2 (EPC2) and GULP PTB domain containing engulfment adaptor 1 (GULP1) respectively. By qRT-PCR …

MedulloblastomafusionCancer Researchmedulloblastoma; EPC2; GULP1; fusionImmunogenicityIn silicoGULP1Neoplasms. Tumors. Oncology. Including cancer and carcinogensBiologymedulloblastomamedicine.diseaseFusion proteinEPC2OncologyAntigenCancer researchmedicineCytotoxic T cellEnhancerRC254-282CD8Cancers
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Oligonucleotide probes detect splicing variants insituinDrosophilaembryos

1992

We describe a method for the in situ detection of specific splicing variants. The method is based on the use of antisense oligonucleotides designed to span splice junctions labelled with digoxigenin by terminal transferase tailing. We find that the spatial patterns of Ubx splicing variants Ia and IIa are similar in early embryos, but differ in late embryos. Variant IVa is only detected in the CNS (ps6) at stages 16 and 17. We also present evidence indicating that the first splicing event is cotranscriptional.

Messenger RNAanimal structuresBase SequenceTranscription GeneticOligonucleotideMolecular Sequence DataAlternative splicingExonic splicing enhancerOligonucleotides AntisenseBiologyMolecular biologyAlternative Splicingchemistry.chemical_compoundchemistryRNA splicingGeneticsAnimalsDigoxigeninDrosophilaspliceOligonucleotide ProbesDigoxigeninIn Situ HybridizationUltrabithoraxNucleic Acids Research
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Mucoadhesive micelles based on inulin derivative for ocular release of corticosteroids

2016

Micelle Inulin Ocular Drug Delivery Permeation Enhancer Transwell Corticosteroid
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Diffusion of naltrexone across reconstituted human oral epithelium and histomorphological features

2006

Abstract In transbuccal absorption a major limitation could be the low permeability of the mucosa which implies low drug bioavailability. The ability of naltrexone hydrochloride (NLX) to penetrate a resembling histologically human buccal mucosa was assessed and the occurrence of any histomorphological changes observed. We used reconstituted human oral (RHO) non-keratinised epithelium as mucosal section and a Transwell diffusion cells system as bicompartmental model. Buccal permeation was expressed in terms of drug flux ( J s ) and permeability coefficients ( K p ). Data were collected using both artificial and natural human saliva. The main finding was that RHO does not restrain NLX permeat…

Naltrexone HydrochlorideSalivaTissue FixationCell SurvivalNarcotic AntagonistsPharmaceutical SciencePharmacologySettore MED/08 - Anatomia PatologicaEpitheliumPermeabilityAbsorptionDiffusionExcipientsSettore MED/28 - Malattie OdontostomatologichemedicineHumansNaltrexone hydrochlorideNLXIontophoresiBuccal permeationTransbuccal absorptionParaffin EmbeddingIontophoresisChemistryNarcotic antagonistMouth MucosaAdministration BuccalGeneral MedicineBuccal administrationIontophoresisPermeationReconstituted human oral epithelium (RHO)Electric StimulationNaltrexoneEpitheliummedicine.anatomical_structurePenetration enhancersSettore CHIM/09 - Farmaceutico Tecnologico ApplicativoData Interpretation StatisticalBiophysicsBiotechnology
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The transcription factor Zfh1 is involved in the regulation of neuropeptide expression and growth of larval neuromuscular junctions in Drosophila mel…

2008

AbstractDifferent aspects of neural development are tightly regulated and the underlying mechanisms have to be transcriptionally well controlled. Here we present evidence that the transcription factor Zfh1, the Drosophila member of the conserved zfh1 gene family, is important for different steps of neuronal differentiation. First, we show that late larval expression of the neuropeptide FMRFamide is dependent on correct levels of Zfh1 and that this regulation is presumably direct via a conserved zfh1 homeodomain binding site in the FMRFamide enhancer. Using MARCM analysis we additionally examined the requirement for Zfh1 during embryonic and larval stages of motoneuron development. We could …

Neuromuscular JunctionAxonal outgrowthAnimalsDrosophila ProteinsFMRFamideFMRFamideFRMFaEnhancerMolecular BiologyTranscription factorMotor NeuronsZfh1biologyEffectorfungiMARCMCell DifferentiationCell Biologybiology.organism_classificationSynapseMolecular biologyAxonsMotoneuronCell biologyDNA-Binding ProteinsRepressor ProteinsDrosophila melanogasternervous systemMARCMLarvaHomeoboxDrosophila melanogasterNeural developmentDevelopment NeurogenesisDevelopmental BiologyDevelopmental biology
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