Search results for "messenger"

showing 10 items of 1493 documents

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.

2005

Mutations in DJ-1 gene have been recently shown to cause autosomal recessive early-onset Parkinson’s disease (EOPD) in a large Dutch family and in a small consanguineous Italian family.1 Subsequent to this initial finding, several additional DJ-1 mutations were identified in subjects with EOPD.2–6 We describe a family from southern Italy with three brothers affected by a complex disorder characterized by early-onset parkinsonism-dementia-amyotrophic lateral sclerosis (EOPD-D-ALS). The analysis of the DJ-1 gene showed a novel homozygous mutation (E163K) in exon 7 and a novel homozygous mutation (g.168_185dup) in the promoter region of this gene in living affected subjects

MalePathologymedicine.medical_specialtyDNA Mutational AnalysisProtein Deglycase DJ-1Glutamic AcidGene mutationParkinsonismmedicine.disease_causeDISEASEPARK7GUAMExonMucoproteinsDegenerative diseaseParkinsonian DisordersmedicineHumansDementiaRNA MessengerAmyotrophic lateral sclerosisGeneFamily HealthOncogene ProteinsGeneticsMutationReverse Transcriptase Polymerase Chain Reactionbusiness.industryParkinsonismAmyotrophic Lateral SclerosisIntracellular Signaling Peptides and ProteinsExonsDEGENERATIONBlotting Northernmedicine.diseaseGENEINCLUSIONSNeurologyMutationAmyotrophic LateralFemaleDementiaNeurology (clinical)TAUbusiness
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Time-course of GDNF and its receptor expression after brain injury in the rat

2008

Abstract The aim of the present work was to perform, by in situ hybridization, a time-course analysis of the glial cell line-derived neurotrophic factor (GDNF) and its receptor mRNA expression in two models of brain injury in the rat: (a) excitotoxic lesion by ibotenic acid injection in the hippocampal formation; (b) mechanical lesion by needle insertion through the cerebral cortex including the white matter of the corpus callosum. The time-course analysis, ranging from 6 h to 8 days, showed that the GDNF and its receptor (RET, GFRα-1 and GFRα-2) mRNA expressions were differentially up-regulated in both models of lesion. This in vivo regulation of the GDNF and its receptor mRNA expression i…

MalePathologymedicine.medical_specialtyGlial Cell Line-Derived Neurotrophic Factor ReceptorsTime FactorsReceptor expressionCentral nervous systemBiologyHippocampal formationSettore BIO/09 - FisiologiaLesionchemistry.chemical_compoundNeurotrophic factorsGlial cell line-derived neurotrophic factormedicineAnimalsGlial Cell Line-Derived Neurotrophic FactorRNA MessengerRats WistarIbotenic AcidGeneral NeuroscienceGDNF RET GFRalfa-1 GFRalfa-2 Brain injury In situ hybridizationRatsmedicine.anatomical_structureGene Expression Regulationnervous systemchemistryCerebral cortexBrain Injuriesbiology.proteinAutoradiographymedicine.symptomIbotenic acidNeuroscience Letters
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Tolerance-Inducing Dose of 3-Nitropropionic Acid Modulates bcl-2 and bax Balance in the Rat Brain: A Potential Mechanism of Chemical Preconditioning

2000

Many studies have reported ischemia protection using various preconditioning techniques, including single dose 3-nitropropionic acid (3-NPA), a mitochondrial toxin. However, the cellular signal transduction cascades resulting in ischemic tolerance and the mechanisms involved in neuronal survival in the tolerant state still remain unclear. The current study investigated the mRNA and protein expression of the antiapoptotic bcl-2 and the proapoptotic bax, two antagonistic members of the bcl-2 gene family, in response to a single dose of 3-NPA, to global cerebral ischemia–reperfusion, and to the combination of both 3-NPA-pretreatment and subsequent global cerebral ischemia–reperfusion. Brain h…

MalePathologymedicine.medical_specialtyIschemiaPharmacologyBiology030218 nuclear medicine & medical imaging03 medical and health sciences0302 clinical medicineBcl-2-associated X proteinDrug toleranceProto-Oncogene ProteinsGene expressionmedicineAnimalsRNA MessengerRats WistarIschemic Preconditioningbcl-2-Associated X ProteinMessenger RNABrainDrug ToleranceNitro Compoundsmedicine.diseasePathophysiologyRatsReal-time polymerase chain reactionProto-Oncogene Proteins c-bcl-2NeurologyIschemic Attack TransientApoptosisbiology.proteinNeurology (clinical)PropionatesCardiology and Cardiovascular Medicine030217 neurology & neurosurgeryJournal of Cerebral Blood Flow & Metabolism
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Regulation of organic anion transporters in a new rat model of acute and chronic cholangitis resembling human primary sclerosing cholangitis

2002

Primary sclerosing cholangitis (PSC) is a cholestatic liver disease of unknown etiology. Although the primary defect affects cholangiocytes, cholestatic injury of hepatocytes may promote further liver damage. Since down-regulation of hepatocellular organic anion transporters is implicated in the molecular pathogenesis of cholestasis, expression of these transporters was determined in a novel rat model, which closely resembles human PSC.Hepatic protein and mRNA expression of basolateral (Ntcp, Oatp1, 2 and 4) and canalicular (Mrp2, Bsep) organic anion transporters were analyzed 1, 4 and 12 weeks after induction of experimental PSC by 2,4,6-trinitrobenzenesulfonic acid (TNBS).Specific down-re…

MalePathologymedicine.medical_specialtyOrganic Cation Transport ProteinsOrganic anion transporter 1Cholangitis SclerosingGene ExpressionOrganic Anion Transporters Sodium-DependentInflammationOrganic Anion Transporters Sodium-Independentdigestive systemPrimary sclerosing cholangitisSolute Carrier Organic Anion Transporter Family Member 1B3CholestasismedicineAnimalsRNA MessengerChronic CholangitisLiver injurySymportersHepatologybiologybusiness.industryMultidrug resistance-associated protein 2Membrane Transport ProteinsTransportermedicine.diseasedigestive system diseasesRatsDisease Models AnimalRats Inbred LewAcute DiseaseChronic Diseasebiology.proteinATP-Binding Cassette TransportersFemalemedicine.symptomCarrier ProteinsbusinessJournal of Hepatology
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Expression of the Tumor Suppressor Gene Product p16INK4 in Benign and Malignant Melanocytic Lesions

1998

The gene MTS1 encodes p16INK4, an inhibitor of cyclin-dependent kinase 4, and is frequently deleted, mutated, or silenced by promoter methylation in melanoma cells and in the germline of familial melanoma patients. Although MTS1 may thus be the candidate melanoma suppressor gene that maps to chromosome 9p21, it is not clear how dysfunction at that locus temporally relates to melanoma progression. To further test its role in sporadic melanoma, the expression of p16INK4-protein and -mRNA was characterized in melanomas and melanocytic nevi by immunocytochemistry and in situ reverse transcriptase-polymerase chain reaction. Histologic tissue sections were immunolabeled with anti-p16INK4 antibody…

MalePathologymedicine.medical_specialtySkin NeoplasmsTumor suppressor geneBlotting WesternImmunocytochemistrydysplastic neviGene ExpressionDermatologyBiologyMelanocytePolymerase Chain ReactionRetinoblastoma ProteinBiochemistryMalignant transformationAntibody SpecificityGene expressionmelanomamedicineHumansMTS1Genes Tumor SuppressorRNA MessengerneoplasmsMolecular BiologyCyclin-Dependent Kinase Inhibitor p16SkinMicroscopy ConfocalMelanomaInfant NewbornAntibodies MonoclonalCell Biologymedicine.diseaseImmunohistochemistrymedicine.anatomical_structureneviDisease ProgressionCancer researchDysplastic nevusMelanocytesImmunohistochemistryJournal of Investigative Dermatology
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M2 Polarized Macrophages and Giant Cells Contribute to Myofibrosis in Neuromuscular Sarcoidosis

2011

The etiopathogenesis of sarcoidosis, a systemic granulomatous disease, still remains obscure. A multitude of organs have been described to be affected in systemic sarcoidosis. Skeletal muscles may also be affected, leading to myalgia and weakness. A workup of the specific immune response with emphasis on the macrophage response is provided herein. Affected muscle tissue from seven patients with systemic sarcoidosis was analyzed and compared with that from seven patients with other myopathies containing macrophagocytic infiltration. Monocytes/macrophages and giant cells in granulomas of muscle tissue from patients with sarcoidosis show a status of alternative activation (M2) based on their e…

MalePathologymedicine.medical_specialtySystemic diseaseSarcoidosismedicine.medical_treatmentBiologyGiant CellsMonocytesPathology and Forensic MedicineTh2 CellsImmune systemmedicineHumansMacrophageRNA MessengerMuscle SkeletalAgedGranulomaMacrophagesCCL18Cell PolarityEpithelial CellsRegular ArticleNeuromuscular DiseasesMacrophage ActivationMiddle Agedmedicine.diseaseAcquired immune systemFibrosisPhenotypeCytokineGene Expression RegulationGiant cellChemokines CCGranulomaImmunologyCytokinesFemaleThe American Journal of Pathology
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Regulation of connexin gene expression during skeletal muscle regeneration in the adult rat

2009

In the adult skeletal muscle, various kinds of trauma promote proliferation of satellite cells that differentiate into myoblasts forming new myofibers or to repair the damaged one. The aim of present work was to perform a comparative spatial and temporal analysis of connexin (Cx) 37, Cx39, Cx40, Cx43, and Cx45 expression in the adult regenerating skeletal muscle in response to crush injury. Within 24 h from injury, Cx37 expression was upregulated in the endothelial cells of blood vessels, and, 5 days after injury, Cx37-expressing cells were found inside the area of lesion and formed clusters generating new blood vessels with endothelial cells expressing Cx37. Three days after injury, Cx39 m…

MalePathologymedicine.medical_specialtyTime FactorsPhysiologyMuscle Fibers SkeletalConnexinNeovascularization Physiologicconnexin 45BiologyConnexinsconnexin 43Cell Fusionconnexin 40Muscle regenerationGene expressionmedicineConnexin 30MyocyteAnimalsRegenerationRNA MessengerRats WistarMuscle SkeletalIn Situ HybridizationCell AggregationCell ProliferationMyogenic cellsconnexin 39Regeneration (biology)Skeletal muscleEndothelial CellsCell Biologyconnexin 37biology.organism_classificationConstrictionImmunohistochemistryCell biologyRatsMuscle regenerationmedicine.anatomical_structureGene Expression Regulationmyogenic cellSatellite (biology)Muscle regeneration; Connexins; Myogenic cells
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Detection of circulating prostate cells by reverse transcriptase-polymerase chain reaction of human glandular kallikrein (hK2) and prostate-specific …

1997

Abstract Objectives To investigate the clinical value of human glandular kallikrein (hK2) reverse transcriptase-polymerase chain reaction (RT-PCR) for detection of prostate cells in circulation and to compare the results with those obtained from prostate-specific antigen (PSA) RT-PCR. Methods We examined peripheral blood (PB) and bone marrow (BM) samples of 13 patients with advanced-stage prostate cancer and 63 patients with clinically localized disease for the presence of circulating prostate cells. An RT-PCR protocol with a two-step amplification cycle and hot-start conditions was used. Results The limit of detection of the PCR portion is similar for PSA and hK2 (5 to 10 copies of the pla…

MalePathologymedicine.medical_specialtyUrologyurologic and male genital diseasesPolymerase Chain ReactionPeripheral blood mononuclear cellProstate cancerAntigenProstateLNCaPHumansMedicineRNA MessengerHuman Glandular Kallikreinbusiness.industryProstatic NeoplasmsProstate-Specific AntigenNeoplastic Cells Circulatingmedicine.diseaseMolecular biologyProstate-specific antigenmedicine.anatomical_structureKallikreinsBone marrowbusinessTissue KallikreinsUrology
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Ocular Phenotype of Relaxin Gene Knockout (Rln-/-) Mice

2020

Purpose: To test if relaxin deficiency affects ocular structure and function we investigated expression of relaxin (Rln) and RXFP receptors (Rxfp1, Rxfp2), and compared ocular phenotypes in relaxin gene knockout (Rln-/- ) and wild type (Rln+/+ ) mice. Materials and Methods: Rln, Rxfp1 and Rxfp2 mRNA expression was detected in ocular tissues of Rln+/+ mice using RT-PCR. The eyes of 11 Rln-/- and 5 Rln+/+ male mice were investigated. Corneal and retinal thickness was assessed using optical coherence tomography. Intraocular pressure was measured using a rebound tonometer. Retinal, choroidal and sclera morphology and thickness were evaluated histologically. Eyes were collected and fixed for imm…

MalePathologymedicine.medical_specialtygenetic structuresAquaporinsReal-Time Polymerase Chain ReactionRetinaReceptors G-Protein-CoupledCorneaGene Knockout TechniquesMiceTonometry Ocular03 medical and health sciencesCellular and Molecular Neurosciencechemistry.chemical_compound0302 clinical medicineCorneamedicineAnimalsRNA MessengerIntraocular PressureGene knockoutMice KnockoutRelaxinExtracellular Matrix ProteinsRetinaChoroidChemistryRelaxinRetinalFluid transporteye diseasesSensory SystemsScleraMice Inbred C57BLOphthalmologyPhenotypemedicine.anatomical_structureGene Expression Regulation030221 ophthalmology & optometryImmunohistochemistryFemalesense organsScleraTomography Optical Coherence030217 neurology & neurosurgeryCurrent Eye Research
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Transcriptional induction of the fatty acid binding protein gene in mouse liver by bezafibrate

1993

AbstractThe mechanism by which hypolipidemic peroxisome proliferators of the fibrate family induce the liver fatty acid binding protein in liver of rodents is unknown. In order to delineate the level at which this protein is induced, the transcriptional activity of the specific gene encoding for liver fatty acid binding protein was measured in isolated hepatocyte nuclei obtained from male Swiss mice daily force-fed during 7 days with 400 mg/kg body weight bezafibrate. This treatment induced a 4-fold increase in the liver fatty acid binding protein transcription rate. Liver fatty acid binding protein mRNA level, measured by Northern blot analysis and cytosolic content of this protein, analyz…

MalePeroxisome proliferator activated receptorTranscription GeneticImmunoblottingBiophysicsPeroxisome proliferator-activated receptorNerve Tissue ProteinsFatty Acid-Binding ProteinsPeroxisome proliferator hypolipidemic drugBiochemistryFatty acid-binding proteinMiceStructural BiologyGeneticsmedicineAnimalsRNA Messengeradipocyte protein 2Molecular Biologychemistry.chemical_classificationLiver fatty acid binding proteinBezafibratebiologyBinding proteinBody WeightCell BiologyOrgan SizePeroxisomeBlotting NorthernMolecular biologyLipidsNeoplasm ProteinsGene regulationFatty acid synthasechemistryBiochemistryGene Expression RegulationLiverbiology.proteinElectrophoresis Polyacrylamide GelPeroxisome proliferator-activated receptor alphaBezafibrateCarrier ProteinsDNA ProbesFatty Acid-Binding Protein 7medicine.drugFEBS Letters
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