Search results for "abnormalities"

showing 10 items of 638 documents

Protective effect of adenylate deaminase (from Penicillium lanoso-viride) against acute infections in mice

1996

We examined the effects of the immunomodulator-adenylate deaminase (E.C. 3.5.4.6) from Penicillium lanoso-viride on experimental mice infections. Prophylactic intraperitoneal administration of adenylate deaminase (ADA) increased survival time and numbers of survivors after infection with Salmonella typhimurium, Pseudomonas aeruginosa and influenza A (H3N2) virus. Protection against influenza virus after intranasal ADA application was also observed. The influence of ADA was time and dose dependent. The most pronounced protection was obtained by administration of 3 U ADA/mice 24 h prior to infection. ADA had no antibiotic effect against these bacterial strains. Protective effects of ADA were …

Salmonella typhimuriumcongenital hereditary and neonatal diseases and abnormalitiesSalmonellamedicine.disease_causeVirusAMP DeaminaseMicrobiologyMicechemistry.chemical_compoundOrthomyxoviridae Infectionsimmune system diseasesCyclosporin amedicineAnimalsMacrophagePseudomonas InfectionsPharmacologyMice Inbred ICRSalmonella Infections AnimalbiologyPseudomonas aeruginosaPenicilliumnutritional and metabolic diseaseshemic and immune systemsbiology.organism_classificationenzymes and coenzymes (carbohydrates)chemistryInfluenza A virusAcute DiseaseImmunologyPenicilliumMice Inbred CBAFemaleNasal administrationTrypan blueImmunopharmacology
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Cystic Fibrosis Transmembrane Conductance Regulator Interacts with Multiple Immunoglobulin Domains of Filamin A

2010

Mutations of the chloride channel cystic fibrosis transmembrane conductance regulator (CFTR) that impair its apical localization and function cause cystic fibrosis. A previous report has shown that filamin A (FLNa), an actin-cross-linking and -scaffolding protein, interacts directly with the cytoplasmic N terminus of CFTR and that this interaction is necessary for stability and confinement of the channel to apical membranes. Here, we report that the CFTR N terminus has sequence similarity to known FLNa-binding partner-binding sites. FLNa has 24 Ig (IgFLNa) repeats, and a CFTR peptide pulled down repeats 9, 12, 17, 19, 21, and 23, which share sequence similarity yet differ from the other FLN…

Scaffold proteincongenital hereditary and neonatal diseases and abnormalitiesFilaminsMolecular Sequence DataCystic Fibrosis Transmembrane Conductance RegulatorImmunoglobulinsBiologymedicine.disease_causeFilaminBiochemistryContractile ProteinsProtein structureCricetinaemedicineAnimalsHumansFLNAAmino Acid SequenceMolecular BiologyPeptide sequenceMutationSequence Homology Amino AcidCell MembraneMicrofilament ProteinsCell Biologyrespiratory systemMolecular biologyActinsCystic fibrosis transmembrane conductance regulatorProtein Structure Tertiaryrespiratory tract diseasesCell biologySolubilityMutationProtein Structure and FoldingChloride channelbiology.proteinPeptidesDimerizationProtein BindingJournal of Biological Chemistry
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Assessment of drainage network analysis methods to rank sediment yield hotspots

2021

This paper aims to test different methods used for assessing sediment yield indices to identify hotspots and rank sediment yield hotspots. This process includes the assessment of the entropy weight...

Sediment yieldcongenital hereditary and neonatal diseases and abnormalitiesRank (linear algebra)genetic processesinformation sciencefood and beveragesEntropy (information theory)Environmental scienceSoil scienceDrainage networkurologic and male genital diseasesAnalysis methodWater Science and TechnologyHydrological Sciences Journal
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Methodologies for the Determination of Blood Alpha1 Antitrypsin Levels: A Systematic Review

2021

Background: The study of hematic concentrations of alpha1 antitrypsin (AAT) is currently one step in the diagnosis of AAT deficiency. To try to clarify the relevance of the laboratory techniques, we carried out a systematic review of the literature. Methods: Studies evaluating the quantification of AAT in peripheral blood were searched in PubMed in July 2021. The selection criteria included (1) any type of study design that included a quantification of AAT in peripheral blood; (2) studies written in English or Spanish; (3) studies evaluating human beings; and (4) studies involving adults. Results: Out of 207 studies, the most frequently used techniques were nephelometry (43.9%), followed by…

Serummedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesAAT deficiencyAlpha1-antitripsinReviewturbidimetryCommercial kitBlood concentrationPlasmanephelometryBlood concentrationInternal medicinemedicineplasmablood concentrationalpha1-antitripsinbusiness.industryRGeneral MedicinePeripheral bloodMedicinebusinessNephelometryserumNephelometryTurbidimetryJournal of Clinical Medicine
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Congenital malformations.

2012

Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%. Both genetic and environmental factors, as well as their combination in a multifactorial contest, may induce congenital defects. Congenital malformations may be classi- fied on the basis of clinical, etiologic as well as pathogenetic criteria. Relevant diagnostic and therapeutic tools have been progressively improving in the last decades, contributing to a better identification and a reduction of long-term morbidity and mortality of these patients. A correct identification of a congen- ita…

Settore MED/38 - Pediatria Generale E SpecialisticaPrenatal DiagnosisPediatrics Perinatology and Child HealthObstetrics and GynecologyDysostosesHumansassociation blastogenesis chromosome counseling gene imprinting methylation phenotype sequence syndrome uniparental dysomyGenetic CounselingSyndromeOsteochondrodysplasiasCongenital AbnormalitiesThe journal of maternal-fetalneonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
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Recombinant expression, in vitro refolding, and biophysical characterization of the N-terminal domain of T1R3 taste receptor

2012

Facteur d'impact (5 ans) : 1,617Notoriété à 2 ans : Acceptable (biochem.res.methods); The sweet taste receptor is a heterodimeric receptor composed of the T1R2 and T1R3 subunits, while T1R1 and T1R3 assemble to form the umami taste receptor. T1R receptors belong to the family of class C G-protein coupled receptors (GPCRs). In addition to a transmembrane heptahelical domain, class C GPCRs have a large extracellular N-terminal domain (NTD), which is the primary ligand-binding site. The T1R2 and T1R1 subunits have been shown to be responsible for ligand binding, via their NTDs. However, little is known about the contribution of T1R3-NTD to receptor functions. To enable biophysical characteriza…

TASTE RECEPTORSucroseCircular dichroismcongenital hereditary and neonatal diseases and abnormalitiesProtein Conformation[ SDV.AEN ] Life Sciences [q-bio]/Food and Nutritionumami receptorUmamiSWEETENERmedicine.disease_causeReceptors G-Protein-Coupledtaste03 medical and health sciencesGPCRTaste receptorPROTEIN REFOLDINGexpressionEscherichia colimedicineHumansRECOMBINANT GPCRbacteriaReceptorEscherichia coli030304 developmental biologyG protein-coupled receptorInclusion Bodies0303 health sciencesChemistrysweet receptor030302 biochemistry & molecular biologyRecombinant ProteinsTransmembrane proteinnervous system diseasesResearch NoteBACTERIAL EXPRESSIONBiochemistrysugarElectrophoresis Polyacrylamide GelHeterologous expression[SDV.AEN]Life Sciences [q-bio]/Food and Nutritionrecombinant proteinProtein BindingBiotechnology
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A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition

2011

Mutations in genes encoding ciliary components cause ciliopathies, but how many of these mutations disrupt ciliary function is unclear. We investigated Tectonic1 (Tctn1), a regulator of mouse Hedgehog signaling, and found that it is essential for ciliogenesis in some, but not all, tissues. Cell types that do not require Tctn1 for ciliogenesis require it to localize select membrane-associated proteins to the cilium, including Arl13b, AC3, Smoothened and Pkd2. Tctn1 forms a complex with multiple ciliopathy proteins associated with Meckel (MKS) and Joubert (JBTS) syndromes, including Mks1, Tmem216, Tmem67, Cep290, B9d1, Tctn2, and Cc2d2a. Components of the Tectonic ciliopathy complex colocaliz…

TMEM67Inbred C57BLCiliopathiesMedical and Health SciencesMice0302 clinical medicineCerebellumMorphogenesisEye AbnormalitiesEncephalocelePediatricMice Knockout0303 health sciencesPolycystic Kidney DiseasesCiliumCiliary transition zoneBiological SciencesKidney Diseases CysticCell biologyOrgan SpecificityCiliary Motility DisordersKidney DiseasesRabbitsAbnormalitiesMultipleRetinitis PigmentosaCiliary Motility DisordersSignal TransductionKnockoutBiologyRetinaArticle03 medical and health sciencesCysticRare DiseasesCerebellar DiseasesCiliogenesisGeneticsMatrix-Assisted Laser Desorption-IonizationAnimalsHumansAbnormalities MultipleCiliaCiliary membrane030304 developmental biologySpectrometryCell MembraneMembrane ProteinsMassPeptide FragmentsMice Inbred C57BLSpectrometry Mass Matrix-Assisted Laser Desorption-IonizationMutationCiliary baseChickens030217 neurology & neurosurgeryDevelopmental BiologyNature genetics
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Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions

2011

SummaryTuberous Sclerosis Complex (TSC) is a multisystem genetic disorder characterized by hamartomatous neurological lesions that exhibit abnormal cell proliferation and differentiation. Hyperactivation of mTOR pathway by mutations in either the Tsc1 or Tsc2 gene underlies TSC pathogenesis, but involvement of specific neural cell populations in the formation of TSC-associated neurological lesions remains unclear. We deleted Tsc1 in Emx1-expressing embryonic telencephalic neural stem cells (NSCs) and found that mutant mice faithfully recapitulated TSC neuropathological lesions, such as cortical lamination defects and subependymal nodules (SENs). These alterations were caused by enhanced gen…

Telencephaloncongenital hereditary and neonatal diseases and abnormalitiesCellular differentiationNeuroepithelial CellsEmbryonic DevelopmentBiologyTuberous Sclerosis Complex 1 Proteinmurine modelCerebral VentriclesMiceNeural Stem CellsCell MovementTuberous SclerosismedicineGeneticsAnimalsAnimals; Animals Newborn; Cell Differentiation; Cell Movement; Cell Proliferation; Cerebral Ventricles; Embryonic Development; Embryonic Stem Cells; Epilepsy; Gene Silencing; Gene Targeting; Megalencephaly; Mice; Mutation; Neural Stem Cells; Neuroepithelial Cells; Neurons; TOR Serine-Threonine Kinases; Telencephalon; Tuberous Sclerosis; Tuberous Sclerosis Complex 1 Protein; Tumor Suppressor Proteins; Signal TransductionGene SilencingNeural cellPI3K/AKT/mTOR pathwayEmbryonic Stem CellsCell ProliferationNeuronsEpilepsymTOR; Neural Stem Cells; Tuberous Sclerosis; murine modelTOR Serine-Threonine KinasesTumor Suppressor ProteinsCell DifferentiationCell BiologyNewbornEmbryonic stem cellNeural stem cellMegalencephalyCell biologynervous system diseasesNeuroepithelial cellmedicine.anatomical_structureAnimals NewbornImmunologyGene TargetingMutationmTORMolecular MedicineTSC1TSC2Signal Transduction
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Effect of halloysite nanotubes filler on polydopamine properties

2019

Abstract Hypothesis Polydopamine (PDA) is widely used as hydrophilic coating for several applications. However, most of the methods studied to improve or manipulate PDA properties are multistep and time-consuming, and there is a need for versatile strategies aimed at controlling and modifying the properties of PDA. Experiments PDA-halloysite nanocomposites were produced under different oxidation conditions in alkaline and acidic media and were characterized by UV–visible and attenuated total refraction- Fourier Transform Infrared spectroscopies, thermogravimetric analysis, porosimetry, scanning electron microscopy, X-ray diffraction and contact angle measurements against the reference PDA p…

Thermogravimetric analysiscongenital hereditary and neonatal diseases and abnormalitiesPolydopamineMaterials scienceScanning electron microscopeeducationHalloysite nanotube02 engineering and technologyengineering.material010402 general chemistry01 natural sciencesHalloysiteBiomaterialsContact angleColloid and Surface ChemistryAdsorptionhealth services administrationSettore CHIM/02 - Chimica FisicaNanocompositeNanocompositeEnvironmental remediationPorosimetrySettore CHIM/06 - Chimica Organica021001 nanoscience & nanotechnology0104 chemical sciencesSurfaces Coatings and FilmsElectronic Optical and Magnetic MaterialsMembraneChemical engineeringengineeringPolydopamine Halloysite nanotubes Nanocomposite Environmental remediation0210 nano-technology
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The Wilms' tumor suppressor gene (wt1) product regulates Dax-1 gene expression during gonadal differentiation.

1999

Gonadal differentiation is dependent upon a molecular cascade responsible for ovarian or testicular development from the bipotential gonadal ridge. Genetic analysis has implicated a number of gene products essential for this process, which include Sry, WT1, SF-1, and DAX-1. We have sought to better define the role of WT1 in this process by identifying downstream targets of WT1 during normal gonadal development. We have noticed that in the developing murine gonadal ridge, wt1 expression precedes expression of Dax-1, a nuclear receptor gene. We document here that the spatial distribution profiles of both proteins in the developing gonad overlap. We also demonstrate that WT1 can activate the D…

Transcriptional Activationcongenital hereditary and neonatal diseases and abnormalitiesGenes Wilms TumorReceptors Retinoic AcidTATA boxMolecular Sequence DataMutagenesis (molecular biology technique)Biologyurologic and male genital diseasesResponse ElementsTransactivationMiceGene expressionAnimalsHumansGonadsPromoter Regions GeneticWT1 ProteinsMolecular BiologyGeneCell Growth and DevelopmentCell Line TransformedGonadal ridgeBase Sequenceurogenital systemDAX-1 Orphan Nuclear ReceptorfungiGene Expression Regulation DevelopmentalCell Biologyfemale genital diseases and pregnancy complicationsCell biologyDNA-Binding ProteinsRepressor ProteinsTestis determining factorNuclear receptorCOS CellsCancer researchTranscription FactorsMolecular and cellular biology
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