Search results for " transcription"

showing 10 items of 810 documents

Mandibular-pelvic-patellar syndrome (mpp) is a novel pitx1-related disorder due to alteration of pitx1 transactivation ability

2020

International audience; PITX1 is a homeobox transcription factor essential for hindlimb morphogenesis. Two PITX1-related human disorders have been reported to date: PITX1 ectopic expression causes Liebenberg syndrome, characterized by malformation of upper limbs showing a "lower limb" appearance; PITX1 deletions or missense variation cause a syndromic picture including clubfoot, tibial hemimelia, and preaxial polydactyly. We report two novel PITX1 missense variants, altering PITX1 transactivation ability, in three individuals from two unrelated families showing a distinct recognizable autosomal dominant syndrome, including first branchial arch, pelvic, patellar, and male genital abnormaliti…

MaleTranscriptional ActivationPathologymedicine.medical_specialtyHindlimb morphogenesis[SDV]Life Sciences [q-bio]Mutation MissensepelvisBiologyPierre-Robin03 medical and health sciencesTransactivationGeneticsmedicineMissense mutationAnimalsHumansPaired Box Transcription FactorsChildPITX1Genetics (clinical)030304 developmental biologyMice Knockoutcleft palate0303 health sciencesBone Diseases Developmental030305 genetics & heredityPreaxial polydactylyInfant NewbornLiebenberg syndromemedicine.disease3. Good healthgenitalpatella[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsChild PreschoolHomeoboxEctopic expressionHaploinsufficiency
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How to preserve and handle fish liver samples to conserve RNA integrity

2019

As transcriptomic studies are becoming more and more common, it is important to ensure that the RNA used in the analyses is of good quality. The RNA integrity may be compromised by storage temperature or freeze-thaw cycles, but these have not been well studied in poikilothermic fishes. This work studied the effects of tissue storage time and temperature, and freeze-thaw cycles of tissue and extracted RNA on RNA integrity in brown trout (Salmo trutta L.) liver. The storage time and temperature had an effect on RNA integrity, but RNA suitable for quantitative reverse transcription PCR (RT-qPCR) (RIN > 7) was still obtained from samples preserved at − 20 °C for 6 months. Freeze-thaw cycles of …

MaleTroutBleached kraft pulp mill effluentHealth Toxicology and Mutagenesis010501 environmental sciencesSample storage01 natural sciencessäilytysSpecimen HandlingTranscriptomeBrown troutsample storageFish liverFreezingAnimalsEnvironmental Chemistryteollisuusjätevesi14. Life underwaterSalmoGene0105 earth and related environmental scienceskalatCryopreservationQuantitative reverse transcription PCRbiologyReverse Transcriptase Polymerase Chain ReactionsytokromitmaksaRNAnäytteetGeneral MedicineRna degradationbiology.organism_classificationPollutionbleached kraft pulp mill effluentPoikilothermLiverBiochemistrycytochrome p450quantitative reverse transcription PCRRNACytochrome p450TranscriptomeResearch ArticleRNA integrity
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HIF-1α and HIF-2α Are Differentially Regulated In vivo in Neuroblastoma: High HIF-1α Correlates Negatively to Advanced Clinical Stage and Tumor Vascu…

2009

Abstract Purpose: Hypoxia is considered to be a major driving force behind tumor angiogenesis. The stabilization and activation at hypoxia of the hypoxia-inducible factors HIF-1α and HIF-2α and the concomitant induction of expression of vascular endothelial growth factor (VEGF) and other proangiogenic factors provide a molecular frame for hypoxia-driven tumor angiogenesis. This study has investigated how HIF and VEGF protein levels relate to each other with regard to vascularization, tumor stage, and overall survival in neuroblastoma. Experimental Design: Tissue cores taken from tumor specimens representing 93 children with neuroblastoma were arranged on a microarray and stained for HIF-1α,…

MaleVascular Endothelial Growth Factor ACD31Cancer ResearchPathologymedicine.medical_specialtyBiologyModels BiologicalNeovascularizationchemistry.chemical_compoundIn vivoNeoplasmsNeuroblastomaBasic Helix-Loop-Helix Transcription FactorsmedicineHumansHypoxiaRegulation of gene expressionNeovascularization PathologicInfantCancerHypoxia-Inducible Factor 1 alpha Subunitmedicine.diseaseGene Expression Regulation NeoplasticPlatelet Endothelial Cell Adhesion Molecule-1Vascular endothelial growth factorTreatment OutcomeHIF1AOncologychemistryChild PreschoolCancer researchFemalemedicine.symptomClinical Cancer Research
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Epigenetic upregulation of endogenous VEGF-A reduces myocardial infarct size in mice.

2014

“Epigenetherapy” alters epigenetic status of the targeted chromatin and modifies expression of the endogenous therapeutic gene. In this study we used lentiviral in vivo delivery of small hairpin RNA (shRNA) into hearts in a murine infarction model. shRNA complementary to the promoter of vascular endothelial growth factor (VEGF-A) was able to upregulate endogenous VEGF-A expression. Histological and multiphoton microscope analysis confirmed the therapeutic effect in the transduced hearts. Magnetic resonance imaging (MRI) showed in vivo that the infarct size was significantly reduced in the treatment group 14 days after the epigenetherapy. Importantly, we show that promoter-targeted shRNA upr…

MaleVascular Endothelial Growth Factor ASmall interfering RNAAnatomy and PhysiologyTranscription GeneticMyocardial InfarctionEndogenyCardiovascularCardiovascular SystemEpigenesis GeneticSmall hairpin RNAMiceMolecular cell biologyNucleic AcidsGene expressionProtein IsoformsRNA Small InterferingCyclic AMP Response Element-Binding ProteinPromoter Regions GeneticRegulation of gene expressionMultidisciplinaryChromosome BiologyQRGenomicsGene TherapyChromatinInterventional CardiologyCell biologyUp-RegulationVascular endothelial growth factor AMedicineEpigeneticsDNA modificationHistone modificationResearch ArticleTranscriptional ActivationDrugs and DevicesScienceDNA transcriptionBiologyDownregulation and upregulationGenomic MedicineGeneticsGene silencingAnimalsGene SilencingBiologyBase SequenceInverted Repeat Sequencesta1182Membrane ProteinsDNA MethylationPhosphoproteinsMolecular biologyMice Inbred C57BLRNAGene expressionPloS one
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Atrial fibrillation is associated with cardiac hypoxia.

2008

BACKGROUND: Atrial fibrillation (AF), the most common human arrhythmia, is responsible for substantial morbidity and mortality and may be promoted by selective atrial ischemia and atrial fibrosis. Consequently, we investigated markers for hypoxia and angiogenesis in AF. METHODS: Right atrial appendages (n=158) were grouped according to heart rhythm [sinus rhythm (SR) or AF]. The degree of fibrosis and microvessel density of all patients were determined morphometrically using Sirius-Red- and CD34/CD105-stained sections, respectively. Next, sections (n=77) underwent immunostaining to detect hypoxia- and angiogenesis-related proteins [hypoxia-inducible factor (HIF)1 alpha, HIF2 alpha, vascular…

MaleVascular Endothelial Growth Factor Amedicine.medical_specialtyCytoplasmAngiogenesisIschemiaMyocardial IschemiaBiologyPathology and Forensic Medicinechemistry.chemical_compoundFibrosisInternal medicineAtrial FibrillationmedicineBasic Helix-Loop-Helix Transcription FactorsHumansSinus rhythmAtrial AppendageHypoxiaMicrovesselAgedCell NucleusNeovascularization PathologicMicrocirculationMyocardiumAtrial fibrillationGeneral MedicineHypoxia (medical)Middle Agedmedicine.diseaseHypoxia-Inducible Factor 1 alpha SubunitCoronary VesselsFibrosisUp-RegulationVascular endothelial growth factorEndocrinologychemistryCardiologyFemalemedicine.symptomCardiology and Cardiovascular MedicineBiomarkersCardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
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Transmissible gastroenteritis virus (TGEV)-based vectors with engineered murine tropism express the rotavirus VP7 protein and immunize mice against r…

2011

A coronavirus vector based on the genome of the porcine transmissible gastroenteritis virus (TGEV) expressing the rotavirus VP7 protein was constructed to immunize and protect against rotavirus infections in a murine model. The tropism of this TGEV-derived vector was modified by replacing the spike S protein with the homologous protein from mouse hepatitis virus (MHV). The rotavirus gene encoding the VP7 protein was cloned into the coronavirus cDNA. BALB/c and STAT1-deficient mice were inoculated with the recombinant viral vector rTGEVS-MHV-VP7, which replicates in the intestine and spreads to other organs such as liver, spleen and lungs. TGEV-specific antibodies were detected in all the in…

MaleViral vectorsRotavirusSwinevirusesRecombinant virusmedicine.disease_causeAntibodies ViralVirus ReplicationMice0302 clinical medicinefluids and secretionsRotavirusAntigens ViralCoronavirus0303 health sciencesMice Inbred BALB CProtectionvirus diseases3. Good healthAnimals SucklingSTAT1 Transcription FactorRNA ViralFemaleGenetic EngineeringGene Expression Regulation ViralDiarrheaBiologyTropismArticleRotavirus InfectionsMicrobiologyViral vectorCell Line03 medical and health sciencesMouse hepatitis virusVirologymedicineAnimalsTropism030304 developmental biologyTransmissible gastroenteritis virusRotavirus Vaccinesbiology.organism_classificationVirologyImmunizationViral replicationCapsid ProteinsImmunity Maternally-Acquired030215 immunology
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Stage-Specific Transcription Factors Drive Astrogliogenesis by Remodeling Gene Regulatory Landscapes.

2017

Summary A broad molecular framework of how neural stem cells are specified toward astrocyte fate during brain development has proven elusive. Here we perform comprehensive and integrated transcriptomic and epigenomic analyses to delineate gene regulatory programs that drive the developmental trajectory from mouse embryonic stem cells to astrocytes. We report molecularly distinct phases of astrogliogenesis that exhibit stage- and lineage-specific transcriptomic and epigenetic signatures with unique primed and active chromatin regions, thereby revealing regulatory elements and transcriptional programs underlying astrocyte generation and maturation. By searching for transcription factors that …

Malecell fateActivating Transcription Factor 3Neurogenesisepigenetic mechanismsCore Binding Factor Alpha 1 SubunitArticleMice Inbred C57BLastrogliogenesisMiceNFI Transcription FactorsastrocyteGene Expression Regulationtranscription factorsAnimalsgene regulationCells Culturedneural stem cellsCell stem cell
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Antibodies to New Beta Cell Antigen ICA12 in Latvian Diabetes Patients

2006

In Latvia diabetes mellitus is diagnosed using the WHO's clinical criteria, and assays for the detection of autoantibodies are not available. In consequence, slowly progressive autoimmune diabetes or LADA is likely to be missed. Antibodies to GAD65 and IA-2 are the major immunological markers in autoimmune diabetes. Recently, a new beta cell antigen, called ICA12, has been identified, which has a homology to the SOX family of transcription factors. The aim of the study was to analyze the prevalence of ICA12 antibodies in diabetes mellitus patients and controls from Latvia and to see whether this antigen is important in revealing autoimmunity when antibodies against major antigens are not pr…

Maleendocrine systemAdolescentendocrine system diseasesmedicine.disease_causeAutoantigensGeneral Biochemistry Genetics and Molecular BiologyAutoimmunityIslets of LangerhansHistory and Philosophy of ScienceAntigenHLA-DQ AntigensDiabetes mellitusmedicineHumansChildAutoantibodiesgeographygeography.geographical_feature_categorybiologyGlutamate Decarboxylasebusiness.industryGeneral NeuroscienceHigh Mobility Group ProteinsAutoantibodyInfantnutritional and metabolic diseasesmedicine.diseaseIsletLatviaIsoenzymesDiabetes Mellitus Type 2Child PreschoolAutoimmune diabetesImmunologybiology.proteinFemaleDisease SusceptibilityBeta cellAntibodybusinessSOXD Transcription FactorsBiomarkersAnnals of the New York Academy of Sciences
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Acetylcholine leads to signal transducer and activator of transcription 1 (STAT-1) mediated oxidative/nitrosative stress in human bronchial epithelia…

2013

AbstractThe induction of nitric oxide synthase (iNOS) expression via the signal transducer and activator of transcription 1 (STAT-1) is involved in the mechanism of oxidative/nitrosative stress. We investigated whether acetylcholine (ACh) generates oxidative/nitrosative stress in bronchial epithelial cells during airway inflammation of COPD and evaluated the effects of Tiotropium, a once-daily antimuscarinic drug, and Olodaterol, a long-acting β2-agonist on these mechanisms. Human bronchial epithelial cells (16-HBE) were stimulated (4h, 37°C) with induced sputum supernatants (ISSs) from healthy controls (HC) (n=10), healthy smokers (HS) (n=10) or COPD patients (n=10), as well as with ACh (f…

Malemedicine.medical_specialtyBlotting WesternNitric Oxide Synthase Type IIBronchiOxidative phosphorylationCholinergic AgonistsFlow cytometrychemistry.chemical_compoundPulmonary Disease Chronic ObstructiveWestern blotInternal medicinemedicineHumansRNA Small InterferingMolecular BiologyCells Culturedchemistry.chemical_classificationReactive oxygen speciesbiologymedicine.diagnostic_testNitrotyrosineEpithelial CellsMiddle AgedAcetylcholinerespiratory tract diseasesEpithelial cellNitric oxide synthaseOxidative StressEndocrinologySTAT1 Transcription FactorchemistrySTAT proteinbiology.proteinOxidative/nitrosative stressTyrosineMolecular MedicineSTAT-1FemaleReactive Oxygen SpeciesAcetylcholinemedicine.drugBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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Altered REDD1, myostatin, and Akt/mTOR/FoxO/MAPK signaling in streptozotocin-induced diabetic muscle atrophy

2011

Type 1 diabetes, if poorly controlled, leads to skeletal muscle atrophy, decreasing the quality of life. We aimed to search highly responsive genes in diabetic muscle atrophy in a common diabetes model and to further characterize associated signaling pathways. Mice were killed 1, 3, or 5 wk after streptozotocin or control. Gene expression of calf muscles was analyzed using microarray and protein signaling with Western blotting. We identified translational repressor protein REDD1 (regulated in development and DNA damage responses) that increased seven- to eightfold and was associated with muscle atrophy in diabetes. The diabetes-induced increase in REDD1 was confirmed at the protein level. …

Malemedicine.medical_specialtyMAP Kinase Signaling SystemPhysiologyEndocrinology Diabetes and MetabolismFOXO1P70-S6 Kinase 1MyostatinBiologyMiceRandom Allocation03 medical and health sciences0302 clinical medicinePhysiology (medical)Internal medicinemedicineAnimalsRNA MessengerPhosphorylationMuscle SkeletalProtein kinase BPI3K/AKT/mTOR pathwayOligonucleotide Array Sequence Analysis030304 developmental biology0303 health sciencesForkhead Box Protein O1Gene Expression ProfilingTOR Serine-Threonine KinasesUbiquitinationForkhead Transcription FactorsOrgan SizeMyostatinProtein ubiquitinationMuscle atrophyMuscular AtrophyDNA Repair EnzymesDiabetes Mellitus Type 1EndocrinologyGene Expression Regulationbiology.proteinPhosphorylationmedicine.symptomProto-Oncogene Proteins c-akt030217 neurology & neurosurgeryTranscription FactorsAmerican Journal of Physiology-Endocrinology and Metabolism
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