Search results for " Type III"

showing 10 items of 171 documents

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

2012

Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC.

Genetic Markersmedicine.medical_specialtyGenetic LinkageMolecular Sequence DataMutation MissenseXenopusBasal ganglia calcification610 Medicine & healthPhosphates10052 Institute of PhysiologyXenopus laevis03 medical and health scienceschemistry.chemical_compound0302 clinical medicineAsian PeopleBasal Ganglia Diseases1311 GeneticsCalcinosisGenetic linkageInternal medicineGeneticsmedicineAnimalsHomeostasisHumansBasal ganglia disease030304 developmental biology0303 health sciencesBase SequencebiologySodium-Phosphate Cotransporter Proteins Type IIIParkinsonismCalcinosisSequence Analysis DNAmedicine.diseasePhosphatebiology.organism_classificationPedigreeEndocrinologychemistry10076 Center for Integrative Human PhysiologyOocytes570 Life sciences; biologyLod Score030217 neurology & neurosurgeryHomeostasisChromosomes Human Pair 8Nature genetics
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Spontaneous hepatic fibrosis in transgenic mice overexpressing PDGF-A.

2008

Platelet derived growth factor (PDGF) plays a central role in repair mechanisms after acute and chronic tissue damage. To further evaluate the role of PDGF-A in liver fibrogenesis in vivo, we generated transgenic mice with hepatocyte-specific overexpression of PDGF-A using the CRP-gene promoter. Transgenic but not wildtype mice showed expression of PDGF-A mRNA in the liver. Hepatic PDGF-A overexpression was accompanied by a significant increase in hepatic procollagen III mRNA expression as well as TGF-beta1 expression. Liver histology showed increased deposition of extracellular matrix in transgenic but not in wildtype mice. PDGF-A-transgenic mice showed positive sinusoidal staining for alp…

Genetically modified mouseLiver CirrhosisPlatelet-derived growth factorTransgeneGene ExpressionMice TransgenicTransforming Growth Factor beta1chemistry.chemical_compoundMiceFibrosisGeneticsmedicineAnimalsHumansRNA MessengerPlatelet-Derived Growth FactorbiologyGeneral Medicinemedicine.diseaseMolecular biologyRecombinant ProteinsC-Reactive ProteinCollagen Type IIIchemistryLiverHepatic stellate cellbiology.proteinHepatic fibrosisTyrosine kinasePlatelet-derived growth factor receptorSignal TransductionGene
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Total RNA-isolation of abdominal hernia of rats for quantitative real-time reverse transcription (RT) PCR assays.

2007

Abstract Increasing complications in incisional hernia surgery call for novel treatments. A gene expression analysis of injured tissues displays important parameters for tissue regeneration. Until today, no reliable method has been described for a quantitative gene expression analysis of hernia tissues. In this work, a protocol is described for the isolation of DNA‐free total RNA of incisional hernias for the first time. Moreover, real‐time RT PCR assays for collagen type I and III and TGF‐β1 are demonstrated for relative gene expression analyses. Both methods enable relative gene expression analyses of hernia tissues for the first time.

Incisional herniaAbdominal HerniaBiologyBiochemistryCollagen Type ITransforming Growth Factor beta1Gene expressionmedicineAnimalsHerniaGeneBase SequenceReverse Transcriptase Polymerase Chain ReactionGene Expression ProfilingGeneral Medicinemedicine.diseaseMolecular biologyReverse transcriptaseHernia AbdominalRatssurgical procedures operativeReal-time polymerase chain reactionCollagen Type IIIRNABiological AssayRNA extractionBiotechnologyPreparative biochemistrybiotechnology
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Endothelial Nitric Oxide Synthase Regulates T Cell Receptor Signaling at the Immunological Synapse

2006

The role of nitric oxide (NO) in T cells remains controversial, and the origin and localization of endogenous NO and whether it regulates lymphocyte activation are unclear. We show here that, within minutes of binding to antigen, T cells produce NO via endothelial nitric oxide synthase (eNOS). This process required increased intracellular Ca2+ and phosphoinositide3-kinase activity. By using an eNOS-green fluorescent fusion protein and fluorescent probes to detect NO, we show that eNOS translocates with the Golgi apparatus to the immune synapse of T helper cells engaged with antigen-presenting cells (APC), where it was fully activated. Overexpression of eNOS prevented the central coalescence…

Interleukin 2CD3 ComplexNitric Oxide Synthase Type IIIT-LymphocytesImmunologyReceptors Antigen T-CellAntigen-Presenting CellsGolgi ApparatusBiologyLymphocyte ActivationNitric OxideNitric oxideImmunological synapseInterferon-gammaMicePhosphatidylinositol 3-Kinaseschemistry.chemical_compoundAntigenmedicineAnimalsHumansImmunology and AllergyCytotoxic T cellAntigensMOLIMMUNOAntigen-presenting cellNitric Oxide Synthase Type IIIMice Mutant StrainsCell biologyInfectious DiseaseschemistryInterleukin-2CalciumSignal transductionSignal Transductionmedicine.drugImmunity
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Role of Neutral Amino Acid Transport and Protein Breakdown for Substrate Supply of Nitric Oxide Synthase in Human Endothelial Cells

2003

Endothelial dysfunction is often associated with a relative substrate deficiency of the endothelial nitric oxide synthase (eNOS) in spite of apparently high intracellular arginine concentrations. For a better understanding of the underlying pathophysiological mechanisms, we aimed to characterize the intracellular arginine sources of eNOS. Our previous studies in human endothelial EA.hy926 cells suggested the existence of two arginine pools: pool I can be depleted by extracellular lysine, whereas pool II is not freely exchangeable with the extracellular space, but accessible to eNOS. In this study, we demonstrate that the eNOS accessible pool II is also present in human umbilical vein endoth…

Intracellular FluidUmbilical VeinsNitric Oxide Synthase Type IIIArginineEndotheliumPhysiologyGlutamineArginineTransfectionSubstrate Specificitychemistry.chemical_compoundEnosNeutral amino acid transportCitrullinemedicineAnimalsHumansAmino AcidsCells CulturedbiologyCarcinomaMembrane Transport ProteinsProteinsNitric Oxide Synthase Type IIIBiological Transportbiology.organism_classificationRatsEndothelial stem cellNitric oxide synthaseAmino Acid Transport Systems NeutralAmino Acids Neutralmedicine.anatomical_structureUrinary Bladder NeoplasmsBiochemistrychemistrybiology.proteinCitrullineEndothelium VascularNitric Oxide SynthaseCardiology and Cardiovascular MedicineCirculation Research
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Processing of procollagen III by meprins: new players in extracellular matrix assembly?

2010

Meprins α and β, a subgroup of zinc metalloproteinases belonging to the astacin family, are known to cleave components of the extracellular matrix, either during physiological remodeling or in pathological situations. In this study we present a new role for meprins in matrix assembly, namely the proteolytic processing of procollagens. Both meprins α and β release the N- and C-propeptides from procollagen III, with such processing events being critical steps in collagen fibril formation. In addition, both meprins cleave procollagen III at exactly the same site as the procollagen C-proteinases, including bone morphogenetic protein-1 (BMP-1) and other members of the tolloid proteinase family. …

Keratinocytesmacromolecular substancesDermatologyMatrix metalloproteinaseCleavage (embryo)BiochemistryBone Morphogenetic Protein 1Substrate SpecificityExtracellular matrix03 medical and health sciencesDermismedicineHumansEnhancerMolecular BiologyCells Cultured030304 developmental biology0303 health sciencesExtracellular Matrix Proteinsintegumentary systemChemistryExtracellular matrix assembly030302 biochemistry & molecular biologyMetalloendopeptidasesCell BiologyDermisFibroblastsFibrosisProcollagen peptidasemedicine.anatomical_structureCollagen Type IIIHEK293 CellsBiochemistryKeloidAstacinThe Journal of investigative dermatology
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Transforming growth factor beta1 T29C gene polymorphism and hypertension: relationship with cardiovascular and renal damage.

2008

Distribution of T29C TGFb1 gene polymorphism was analysed in 260 hypertensive and 134 normotensive subjects. Circulating TGFb1 and procollagen type III levels, microalbuminuria, left ventricular geometry and function were evaluated in all the hypertensives subgrouped according to T29C TGFb1 gene polymorphism. Circulating TGFb1by ELISA technique, procollagen type III by a specific radioimmunoassay, microalbuminuria by radioimmunoassay, left ventricular geometry and function by echocardiography were determined. All groups were comparable for gender, age and sex. Regarding T29C TGFb1 gene polymorphism, prevalence of TC or CC genotypes was significantly (pv0.05) higher in hypertensives than nor…

Key Words: Circulating TGFb1 hypertension left ventricular hypertrophy microalbuminuria procollagen type III TGFb1 gene polymorphism.
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eNOS S-nitrosylates β-actin on Cys374 and regulates PKC-θ at the immune synapse by impairing actin binding to profilin-1.

2017

The actin cytoskeleton coordinates the organization of signaling microclusters at the immune synapse (IS); however, the mechanisms involved remain poorly understood. We show here that nitric oxide (NO) generated by endothelial nitric oxide synthase (eNOS) controls the coalescence of protein kinase C-¿ (PKC-¿) at the central supramolecular activation cluster (c-SMAC) of the IS. eNOS translocated with the Golgi to the IS and partially colocalized with F-actin around the c-SMAC. This resulted in reduced actin polymerization and centripetal retrograde flow of ß-actin and PKC-¿ from the lamellipodium-like distal (d)-SMAC, promoting PKC-¿ activation. Furthermore, eNOS-derived NO S-nitrosylated ß-…

Life Sciences & Biomedicine - Other Topics0301 basic medicinePOLARIZATIONIMMUNOLOGICAL SYNAPSEImmunological SynapsesT-LymphocytesPROTEINGolgi ApparatusCYTOSKELETONRetrograde FlowBiochemistryARP2/3 COMPLEXT-CELL-ACTIVATIONProfilinsWhite Blood CellsContractile ProteinsFluorescence MicroscopyAnimal CellsMedicine and Health SciencesPseudopodiaBiology (General)Post-Translational ModificationCells CulturedProtein Kinase CMicroscopyT CellsGeneral NeuroscienceLight MicroscopyNeurochemistryRecombinant Proteins3. Good healthIsoenzymesPOLYMERIZATIONProtein TransportCell ProcessesRNA InterferenceCellular TypesNeurochemicalsGeneral Agricultural and Biological SciencesLife Sciences & BiomedicineResearch ArticleBiochemistry & Molecular BiologyNitric Oxide Synthase Type IIIQH301-705.5Imaging TechniquesRecombinant Fusion ProteinsImmune CellsImmunologyLibrary scienceAntigen-Presenting Cellsmacromolecular substancesBiologyNitric OxideResearch and Analysis MethodsGeneral Biochemistry Genetics and Molecular BiologyCell Line03 medical and health sciencesFluorescence ImagingHumansCysteineNITRIC-OXIDE SYNTHASEBiologyScience & TechnologyBlood CellsRECEPTORGeneral Immunology and MicrobiologyBiology and Life SciencesProteinsCell BiologyActinsS-NitrosylationEnzyme ActivationLuminescent ProteinsCytoskeletal Proteins030104 developmental biologyAmino Acid SubstitutionRETROGRADE FLOWProtein Kinase C-thetaMutationProtein Processing Post-TranslationalNeuroscienceActin PolymerizationPLoS biology
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Expressional control of the ‘constitutive’ isoforms of nitric oxide synthase (NOS I and NOS III)

1998

Nitric oxide synthase (NOS) exists in three established isoforms. NOS I (NOS1, ncNOS) was originally discovered in neurons. This enzyme and splice variants thereof have since been found in many other cells and tissues. NOS II (NOS2, iNOS) was first identified in murine macrophages, but can also be induced in many other cell types. NOS III (NOS3, ecNOS) is expressed mainly in endothelial cells. Whereas NOS II is a transcriptionally regulated enzyme, NOS I and NOS III are considered constitutively expressed proteins. However, evidence generated in recent years indicates that these two isoforms are also subject to expressional regulation. In view of the important biological functions of these …

LipopolysaccharidesGene isoformNitric Oxide Synthase Type IIITranscription GeneticNOS1Nitric Oxide Synthase Type IBiochemistryTranscription (biology)GeneticsTranscriptional regulationAnimalsHumansRNA MessengerGrowth SubstancesMolecular BiologyTranscription factorRegulation of gene expressionPolymorphism GeneticbiologyChemistryChromosome MappingLysophosphatidylcholinesNitric Oxide Synthase Type IIIEstrogensExonsCell biologyIsoenzymesLipoproteins LDLOxygenNitric oxide synthaseGene Expression Regulationbiology.proteinCytokinesNitric Oxide SynthaseGene DeletionBiotechnologyThe FASEB Journal
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Plasma Pro-C3 (N-terminal type III collagen propeptide) predicts fibrosis progression in patients with chronic hepatitis C.

2014

BACKGROUND & AIMS: Fibrogenesis results in release of certain extracellular matrix protein fragments into the circulation. We evaluated the diagnostic and prognostic performance of two novel serological markers, the precisely cleaved N-terminal propeptide of type III collagen (Pro-C3) and a peptide of helical collagen type III degradation (C3M), in chronic hepatitis C (CHC) patients. METHOD: Pro-C3 and C3M were measured by ELISA in plasma from CHC patients (n = 194) from a prior phase II antifibrotic trial (NCT00244751). Plasma samples and paired liver biopsies were obtained at baseline and after 1-year. Patients were stratified according to Ishak stages 2-4. Internal cross-validation w…

Liver CirrhosisCollagen Type III/bloodPathologymedicine.medical_specialtyLiver fibrosisEnzyme-Linked Immunosorbent AssayGastroenterologySerologyExtracellular matrixCohort StudiesCollagen Type IIIFibrosisPredictive Value of TestsInternal medicinemedicineHumansStage (cooking)Hepatologybusiness.industryFibroTestBiomarkerHepatitis C ChronicPrognosismedicine.diseaseCollagen Type IIIPredictive value of testsMultivariate AnalysisExtracellular matrix remodellingDisease ProgressionBiomarker (medicine)Hepatitis C Chronic/bloodbusinessLiver Cirrhosis/diagnosisBiomarkers/bloodBiomarkersLiver international : official journal of the International Association for the Study of the Liver
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