Search results for "Transcription factors"

showing 10 items of 848 documents

Association between genetic variations in the insulin/insulin-like growth factor (Igf-1) signaling pathway and longevity: a systematic review and met…

2013

Some studies have shown that polymorphisms in the insulin growth factor-1 (IGF-1) signaling pathway genes could influence human longevity. However, the results of different studies are often inconsistent. Our aim was to investigate by systematic review and meta-analysis the association of the common polymorphisms defining the genetic variability of the IGF-1 signaling pathway associated with human longevity. Eleven studies investigating the association between the polymorphisms in the IGF-1 signaling pathway genes (IGF-1, IGF-1 receptor (IGF-1R), Forkhead box O3A (FOXO3A) and Silent mating type Information Regulation 1 (SIRT1) and longevity were found and analyzed. The modelfree approach wa…

media_common.quotation_subjectLongevitySingle-nucleotide polymorphismBiologyBioinformaticsPolymorphism Single NucleotideIGF-1 Signaling PathwayPolymorphism (computer science)Meta-analysis IGF-1 LongevityGenotypeHumansInsulinGenetic variabilityAlleleInsulin-Like Growth Factor Imedia_commonSettore MED/04 - Patologia GeneralePharmacologyGeneticsAged 80 and overForkhead Box Protein O3Case-control studyLongevityGenetic VariationForkhead Transcription FactorsCase-Control StudiesCardiology and Cardiovascular MedicineSignal TransductionCurrent vascular pharmacology
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Injection of Donor-Derived OX62+ Splenic Dendritic Cells With Anti-CD4 Monoclonal Antibody Generates CD4+CD25+FOXP3+ Regulatory T Cells That Prolong …

2009

Abstract Objective To examine in a rat model the ability of donor dendritic cells and anti-CD4 monoclonal antibody (mAb) to generate donor-specific CD4+CD25+ regulatory T cells (Tregs) and to evaluate the capacity of these Tregs to prolong skin allograft survival and abrogate the production of donor-specific antibodies after skin grafting. Materials and Methods OX62+ (nonplasmacytoid) splenic dendritic cells were isolated from Fischer rats using magnetic beads and injected (2 × 10 6 ) into Lewis rat recipients with or without treatment with a nondepleting anti-CD4 (W3/25) mAb. After 4 weeks, splenic CD4+CD25+FOXP3+ T cells were harvested using magnetic beads from conditioned animals and inj…

medicine.drug_classmedicine.medical_treatmentSpleenMonoclonal antibodyT-Lymphocytes RegulatoryIsoantibodiesRats Inbred BNAnimalsTransplantation HomologousMedicineIL-2 receptorAntigen-presenting cellTransplantationbusiness.industryGraft SurvivalInterleukin-2 Receptor alpha SubunitAntibodies MonoclonalForkhead Transcription FactorsDendritic CellsSkin TransplantationDendritic cellDonor LymphocytesRats Inbred F344RatsTransplantationmedicine.anatomical_structureRats Inbred LewCD4 AntigensModels AnimalImmunologySkin graftingSurgerybusinessTransplantation Proceedings
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Medical significance of peroxisome proliferator-activated receptors.

1999

Peroxisome proliferator-activated receptors (PPAR) were discovered in 1990, ending 25 years of uncertainty about the molecular mechanisms of peroxisome proliferation. Subsequently, PPARs have improved our understanding of adipocyte differentiation. But there is more to PPARs than solving a puzzle about an organelle (the peroxisome) long considered an oddity, and their medical significance goes beyond obesity too. Enhanced PPAR type alpha expression protects against cardiovascular disorders though the role of enhanced PPARgamma expression seems less favourable. PPAR mechanisms, mainly via induction of more differentiated cell phenotypes, protect against some cancers. The differentiation of m…

medicine.medical_specialtyCellular differentiationPeroxisome ProliferationPeroxisome proliferator-activated receptorReceptors Cytoplasmic and NuclearBiologyMicrobodiesInternal medicineNeoplasmsmedicineAdipocytesAnimalsHumansReceptorRegulation of gene expressionchemistry.chemical_classificationResearchFatty AcidsCell DifferentiationGeneral MedicinePeroxisomeEndocrinologychemistryNuclear receptorGene Expression RegulationCardiovascular DiseasesCancer researchPeroxisome proliferator-activated receptor alphaOxidation-ReductionTranscription FactorsLancet (London, England)
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Recent advances on stearoyl-Coa desaturase regulation in fatty liver diseases.

2012

Stearoyl-CoA desaturase 1 (SCD-1) is a delta-9 fatty acid desaturase that catalyzes the synthesis of monounsaturated fatty acids. Indeed, SCD-1 is the critical control point regulating hepatic lipogenesis and lipid oxidation. Due to its central role in lipid metabolism in the liver, recent studies have focused on the involvement of SCD-1 in the development of fatty liver during obesity, diabetes mellitus, hypertension, excessive alcohol consumption, and in subjects with high triglyceride blood concentrations. The accumulation of fat in liver cells can be a sign that harmful conditions are developing, possibly associated with or leading to inflammation of the liver. This review evaluates the…

medicine.medical_specialtyClinical Biochemistrychemistry.chemical_compoundLipid oxidationInternal medicineDiabetes mellitusmedicineAnimalsHumansPharmacologyTriglyceridebiologyFatty liverLipid metabolismmedicine.diseaseFatty LiverStearoyl-CoA DesaturaseEndocrinologyFatty acid desaturasechemistrybiology.proteinFatty Acids UnsaturatedSteatosisStearoyl-CoA DesaturaseFatty Liver AlcoholicTranscription FactorsCurrent drug metabolism
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Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical rep…

2021

Abstract Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence of the eyelids), ectodermal abnormalities (sparse and frizzy hair, skin defects, nail alterations, dental changes and hypohidrosis), and cleft lip/palate. Diagnostic suspicion is based on clinical signs and confirmed by genetic testing. Patient’s presentation We hereb…

medicine.medical_specialtyEctodermal dysplasiaHay–Wells syndromeCleft LipAnkyloblepharonMutation MissenseErythrodermaCase ReportEctodermal dysplasiaPediatricsRJ1-570TP63medicineMissense mutationHumansEye Abnormalitiesbusiness.industryTumor Suppressor ProteinsAEC syndromeInfant NewbornTumor protein p63 geneEyelidsmedicine.diseaseAnkyloblepharon-ectodermal defects-cleft lip/palate syndromeDermatologyCleft Palatemedicine.anatomical_structureHay-Wells syndromeScalpAgenesisFemaleAEC syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Congenital skin disorders Ectodermal dysplasia Hay-Wells syndrome Tumor protein p63 genebusinessTranscription FactorsCongenital skin disordersItalian journal of pediatrics
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Retinoid receptors and vitamin A deficiency: differential patterns of transcription during early avian development and the rapid induction of RARs by…

2003

The functional links of specific retinoid receptors to early developmental events in the avian embryo are not known. Before such studies are undertaken, knowledge is required of the spatiotemporal expression patterns of the receptor genes and their regulation by endogenous retinoic acid levels during the early stages of development. Here, we report the expression patterns of mRNAs for RARalpha, RARalpha2, RARbeta2, RARgamma, RARgamma2, RXRalpha, and RARgamma from neurulation to HH10 in the normal and vitamin A-deficient (VAD) quail embryo. The transcripts for all retinoid receptors are detectable at HH5, except for RXRgamma, which is detected at the beginning of HH6. At the 4/5 somite stage…

medicine.medical_specialtyEmbryo Nonmammaliananimal structuresTranscription GeneticReceptors Retinoic Acidmedicine.drug_classRetinoic acidRetinoid receptorTretinoinCoturnixRetinoid X receptorBiologyMicechemistry.chemical_compoundInternal medicinemedicineAnimalsRetinoidReceptorFetal DeathMolecular BiologyRetinoid X receptor alphaVitamin A DeficiencyRetinoic Acid Receptor alphaGene Expression Regulation DevelopmentalRetinal DehydrogenaseCell BiologyRetinoid X receptor gammaAldehyde OxidoreductasesCell biologyRetinoid X ReceptorsEndocrinologychemistryRetinoid X receptor betaTranscription FactorsDevelopmental BiologyDevelopmental Biology
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Distinct subsets of regulatory T cells during pregnancy: is the imbalance of these subsets involved in the pathogenesis of preeclampsia?

2008

Abstract Regulatory T cells (CD4 + CD25 + FoxP3 + -Treg cells) are important regulators of tolerance induction during pregnancy. We now found that the number of CD4 + CD25 + FoxP3 + -Treg cells decreases during normal course of pregnancy and even more so in women affected by preeclampsia. The functional activity of these CD4 + CD25 + -Treg cells was significantly reduced in comparison to those of healthy pregnants. Further analysis revealed two Treg subsets that differed with regard to the FoxP3 and CD25 expression. The percentage of both, CD4 + CD25 + FoxP3 high+ -Treg and CD4 + CD25 high+ FoxP3 + , was maximal in the first and second trimenon, but declined severely in the third trimenon. …

medicine.medical_specialtyHELLP SyndromeImmunologyPopulationchemical and pharmacologic phenomenaBiologyT-Lymphocytes RegulatoryImmune tolerancePreeclampsiaPathogenesisPre-EclampsiaPregnancyT-Lymphocyte SubsetsInternal medicinemedicineImmunology and AllergyHumansIL-2 receptoreducationeducation.field_of_studyInterleukin-2 Receptor alpha SubunitFOXP3hemic and immune systemsForkhead Transcription FactorsT lymphocytemedicine.diseaseFlow CytometryCoculture TechniquesTolerance inductionEndocrinologyImmunologyFemaleClinical immunology (Orlando, Fla.)
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Small for gestational age (SGA) neonates show reduced suppressive activity of their regulatory T cells

2009

Little information exists concerning the role of fetal regulatory T cells (Tregs) during intrauterine development. We examined whether complications such as reduced birth weight or the occurrence of preterm labor were associated with deficiencies in the number or in the immunosuppressive activity of Tregs in the fetal circulation. Their total number did not change during normal or complicated pregnancy. In contrast, their level of FoxP3 expression decreased continuously with gestational age and was significantly reduced in the presence of spontaneous term, but not preterm labor. In small for gestational age (SGA) neonates, FoxP3 expression was constantly decreased when compared to age match…

medicine.medical_specialtyImmunologychemical and pharmacologic phenomenaCell SeparationT-Lymphocytes RegulatoryFetusObstetric Labor PrematurePregnancyT-Lymphocyte SubsetsInternal medicinemedicineHumansImmunology and AllergyPregnancyFetusbusiness.industryInfant NewbornGestational ageForkhead Transcription Factorshemic and immune systemsInfant Low Birth WeightFlow Cytometrymedicine.diseaseLow birth weightTolerance inductionEndocrinologyFetal circulationGestationSmall for gestational ageFemalemedicine.symptombusinessClinical Immunology
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Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

2013

The author manuscript of this article is open access and is freely available online at PubMed Central

medicine.medical_specialtyKeratoconusCorneal Pachymetrygenetic structuresthickness; keratoconus; geneGlaucomaOcular hypertensionGenome-wide association studyBiologyReal-Time Polymerase Chain ReactionKeratoconusWhite PeopleArticleCentral corneal thicknessCorneaAsian PeopleOphthalmologyCorneaOdds RatioGeneticsmedicineHumansCorneal pachymetrymedicine.diagnostic_testForkhead Box Protein O1Forkhead Transcription FactorsGlaucomaOdds ratioMicroarray Analysismedicine.diseaseConfidence intervaleye diseasesFibronectinsmedicine.anatomical_structureGenetic Locisense organsGenome-Wide Association Study
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Translocation (10;11;22)(p14;q24;q12) Characterized by Fluorescence in Situ Hybridization in a Case of Ewing's Tumor

2001

It is well recognized that the identification by classic cytogenetics of t(11;22)(q24;q12) is a useful aid in the accurate diagnosis of Ewing's sarcoma and related tumors. This translocation induces the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription-polymerase chain reaction. Recent studies have also used fluorescence in situ hybridization (FISH) to demonstrate the translocation. The authors coupled classic cytogenetics and FISH on tumor cells from the original specimen, the local recurrence, and the pulmonary metastasis as well as from the xenografted tumors in a case of extraosseous Ewing's sarcoma. FISH analysis not only confirmed the cytogenetic results but …

medicine.medical_specialtyLung NeoplasmsOncogene Proteins FusionChromosomes Human Pair 22Bone NeoplasmsChromosomal translocationSarcoma EwingBiologyTranslocation GeneticPathology and Forensic MedicineImmunoenzyme TechniquesFatal OutcomemedicineHumansChildMolecular BiologyIn Situ Hybridization FluorescenceLegmedicine.diagnostic_testChromosomes Human Pair 10Proto-Oncogene Protein c-fli-1Reverse Transcriptase Polymerase Chain ReactionChromosomes Human Pair 11CytogeneticsChromosomeEwing's tumorDNA NeoplasmSequence Analysis DNACell Biologymedicine.diseaseCombined Modality TherapyFusion transcriptKaryotypingCancer researchFemaleInterphaseSarcomaRNA-Binding Protein EWSTranscription FactorsFluorescence in situ hybridizationDiagnostic Molecular Pathology
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