Search results for "Type I"

showing 10 items of 966 documents

Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial…

2022

: Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) wer…

MaleAdultMultifactorial InheritanceSettore MED/09 - Medicina Internafamilial hypercholesterolemia; molecular diagnosis; polygenic risk score; Adult; Cholesterol LDL; Female; Humans; Middle Aged; Multifactorial Inheritance; Mutation; Gene Regulatory Networks; Hyperlipoproteinemia Type IIfamilial hypercholesterolemiaCholesterol LDLMiddle AgedLDLHyperlipoproteinemia Type IICholesterolmolecular diagnosispolygenic risk scoreMutationHumansFemaleGene Regulatory Networksmolecular diagnosifamilial hypercholesterolemia; molecular diagnosis; polygenic risk score
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Glutathione Peroxidase-1 Deficiency Potentiates Dysregulatory Modifications of Endothelial Nitric Oxide Synthase and Vascular Dysfunction in Aging

2014

Recently, we demonstrated that gene ablation of mitochondrial manganese superoxide dismutase and aldehyde dehydrogenase-2 markedly contributed to age-related vascular dysfunction and mitochondrial oxidative stress. The present study has sought to investigate the extent of vascular dysfunction and oxidant formation in glutathione peroxidase-1–deficient ( GPx-1 −/− ) mice during the aging process with special emphasis on dysregulation (uncoupling) of the endothelial NO synthase. GPx-1 −/− mice on a C57 black 6 (C57BL/6) background at 2, 6, and 12 months of age were used. Vascular function was significantly impaired in 12-month-old GPx-1 −/− -mice as compared with age-matched controls. Oxidan…

MaleAgingmedicine.medical_specialtyGPX1Nitric Oxide Synthase Type IIIBiologymedicine.disease_causeMicechemistry.chemical_compoundGlutathione Peroxidase GPX1Internal medicineLeukocytesInternal MedicinemedicineAnimalsHumansPhosphorylationEndothelial dysfunctionProtein kinase ACells CulturedAgedMice Knockoutchemistry.chemical_classificationGlutathione PeroxidaseGlutathione peroxidaseEndothelial CellsNitric Oxide Synthase Type IIIGlutathioneOxidantsmedicine.diseaseMice Inbred C57BLOxidative StressEndocrinologychemistryImmunologyPhosphorylationEndothelium VascularOxidative stressHypertension
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Age- and training-related changes in the collagen metabolism of rat skeletal muscle

1989

The effects of ageing and life-long endurance training on the collagen metabolism of skeletal muscle were evaluated in a longitudinal study. Wistar rats performed treadmill running 5 days a week for 2 years. The activities of collagen biosynthesis enzymes, prolyl-4-hydroxylase and galactosylhydroxylysyl glucosyltransferase, were highest in the muscles of the youngest animals, decreased up to the age of 2 months and from then on remained virtually unchanged. The enzyme activity in young animals was higher in the slow collagenous soleus muscle than in the rectus femoris muscle. The enzyme activity in the soleus muscle was higher for older trained rats than older untrained rats. The relative p…

MaleAgingmedicine.medical_specialtyPhysiologyProcollagen-Proline DioxygenaseConnective tissueRectus femoris muscleBiologyEndurance trainingPhysical Conditioning AnimalPhysiology (medical)Internal medicinemedicineAnimalsOrthopedics and Sports MedicineSoleus muscleMusclesPublic Health Environmental and Occupational HealthSkeletal muscleRats Inbred StrainsGeneral MedicineEnzyme assayRatsmedicine.anatomical_structureEndocrinologyGlucosyltransferasesAgeingbiology.proteinCollagenType I collagenEuropean Journal of Applied Physiology and Occupational Physiology
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Altered tachykinergic influence on gastric mechanical activity in mdx mice

2006

Abstract This study investigated whether alterationsin gastric activity in dystrophic mdx mouse can beattributed to dysfunctions of tachykinins. Endolumi-nal pressure was recorded and the expression ofneuronal nitric oxide synthase (nNOS), NK1 and NK2neurokinin receptors was investigated by immunoh-istochemistry. SR48968, NK2 receptor antagonist, butnot SR140333, NK1 receptor antagonist, decreased thetone only in mdx gastric preparations. In the presenceof N x -nitro- L -arginine methyl ester ( L -NAME), inhib-itor of NOS, SR48968 reduced the tone also in normalstomach. [Sar 9 , Met(O 2 ) 11 ]-SP, agonist of NK1 recep-tors, caused tetrodotoxin-sensitive relaxations, antag-onized by SR140333…

MaleAgonistQuinuclidinesmedicine.medical_specialtymdx mouseManometryPhysiologymedicine.drug_classNitric Oxide Synthase Type ISettore BIO/09 - FisiologiaNitric oxideMicechemistry.chemical_compoundimmunohistochemistry mdx mouse nitric oxide stomach tachykininsOrgan Culture TechniquesNeurokinin-1 Receptor AntagonistsPiperidinesTachykininsInternal medicinemedicineAnimalsEnzyme InhibitorsReceptorbiologyEndocrine and Autonomic SystemsStomachStomachGastroenterologyAntagonistMuscle SmoothReceptors Neurokinin-2Receptors Neurokinin-1musculoskeletal systemImmunohistochemistryMuscular Dystrophy DuchenneNitric oxide synthaseDisease Models AnimalNG-Nitroarginine Methyl Estermedicine.anatomical_structureEndocrinologychemistryMuscle TonusBenzamidesMice Inbred mdxbiology.proteinNK1 receptor antagonistGastrointestinal MotilityMuscle Contraction
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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Treatment of chronic type B hepatitis with recombinant alpha-interferon induces autoantibodies not specific for autoimmune chronic hepatitis.

1989

Recombinant human alpha-interferon is now under intensive investigation as therapy for chronic Type B hepatitis. Recent reports have suggested that prolonged alpha-interferon therapy may induce autoimmune reactions. We have evaluated the problem of autoimmunity related to alpha-interferon therapy by testing for 15 different antibodies in the sera of 31 patients treated with alpha-interferon. No patient had autoantibodies before treatment; 27 (87%) of 31 patients developed at least one autoantibody. Eleven patients had antinuclear antibodies and 21 had smooth muscle antibodies, both of which usually developed during alpha-interferon therapy. In contrast, antibodies to endocrine organs such a…

MaleAnti-nuclear antibodymedicine.medical_treatmentmedicine.disease_causeAutoimmunityAutoimmune DiseasesHepatitisPrimary biliary cirrhosisAntibody SpecificityEndocrine GlandsMedicineHumansAutoantibodiesHepatitisHepatologybiologybusiness.industryAutoantibodymedicine.diseaseHepatitis BAnti-thyroid autoantibodiesRecombinant ProteinsImmunologyChronic DiseaseInterferon Type Ibiology.proteinThyroglobulinFemaleAntibodybusinessHepatology (Baltimore, Md.)
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Dietary soy isoflavone induced increases in antioxidant and eNOS gene expression lead to improved endothelial function and reduced blood pressure in …

2005

Epidemiological evidence suggests that populations consuming large amounts of soy protein have a reduced incidence of coronary heart disease (1-5). The cardiovascular risks associated with conventional hormone replacement therapy in postmenopausal women (5-7) have precipitated a search for alternative estrogen receptor modulators. Here we report that long-term feeding of rats with a soy protein-rich (SP) diet during gestation and adult life results in decreased oxidative stress, improved endothelial function, and reduced blood pressure in vivo measured by radiotelemetry in aged male offspring. Improved vascular reactivity in animals fed an SP diet was paralleled by increased mitochondrial g…

MaleAntioxidantTime Factorsmedicine.medical_treatmentBlood PressureCoronary Disease030204 cardiovascular system & hematologymedicine.disease_causeBiochemistryAntioxidantschemistry.chemical_compound0302 clinical medicineEnosMalondialdehydeSoy proteinAorta2. Zero hungerRegulation of gene expression0303 health sciencesReverse Transcriptase Polymerase Chain ReactionGenistein3. Good healthmedicine.anatomical_structureLiverFemaleBiotechnologymedicine.medical_specialtyEndotheliumNitric Oxide Synthase Type IIIPhytoestrogensBiologyModels BiologicalGene Expression Regulation Enzymologic03 medical and health sciencesInternal medicineGeneticsmedicineAnimalsRNA MessengerRats WistarMolecular Biology030304 developmental biologybiology.organism_classificationAnimal FeedIsoflavonesRatsOxidative StressBlood pressureEndocrinologychemistryModels ChemicalPhytoestrogensEndothelium VascularSoybeansOxidative stressFASEB journal : official publication of the Federation of American Societies for Experimental Biology
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Conditioned Media from Adipose-Tissue-Derived Mesenchymal Stem Cells Downregulate Degradative Mediators Induced by Interleukin-1β in Osteoarthritic C…

2013

Osteoarthritis (OA) is the most frequent joint disorder and an important cause of disability. Recent studies have shown the potential of adipose-tissue-derived mesenchymal stem cells (AD-MSC) for cartilage repair. We have investigated whether conditioned medium from AD-MSC (CM) may regulate in OA chondrocytes a number of key mediators involved in cartilage degeneration. CM enhanced type II collagen expression in OA chondrocytes while decreasing matrix metalloproteinase (MMP) activity in cell supernatants as well as the levels of MMP-3 and MMP-13 proteins and mRNA in OA chondrocytes stimulated with interleukin- (IL-) 1β. In addition, CM increased IL-10 levels and counteracted the stimulating…

MaleArticle Subjectmedicine.medical_treatmentImmunologyInterleukin-1betaType II collagenAdipose tissueDown-RegulationNitric OxideChondrocytesMatrix Metalloproteinase 13Osteoarthritislcsh:PathologymedicineHumansProstaglandin E2Interleukin 6Collagen Type IICells CulturedAgedbiologyChemistryInterleukin-6Tumor Necrosis Factor-alphaMesenchymal stem cellNF-kappa BInterleukinMesenchymal Stem CellsCell BiologyMiddle AgedCell biologyAdipose TissueCulture Media ConditionedImmunologybiology.proteinTumor necrosis factor alphaFemaleMatrix Metalloproteinase 3Inflammation Mediatorslcsh:RB1-214Prostaglandin Emedicine.drugResearch Article
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Right ventricular collagen type III and IV gene expression increases during early phases of endurance training in hypobaric hypoxic condition

1997

The objective of this study was to examine the effects of prolonged exposure to hypobaric hypoxic condition, physical training and their combination on collagen type I, III and IV gene expression in the ventricles and atria of rat heart. Male rats were assigned to four groups: normobaric sedentary (NS) and trained (NT), and hypobaric sedentary (HS) and trained (HT). Exposure to and treadmill running training in hypobaric condition were carried out in a hypobaric chamber (770–740 mbar, 2250–2550 m). Experimental periods were 10, 21 and 56 days; the groups of 91 days served as recovery groups from experimental settings of 56 days. Exposure to hypobaric condition as such and in combination wit…

MaleAtmosphere Exposure Chambersmedicine.medical_specialtyPhysiologyHeart VentriclesProcollagen-Proline DioxygenaseGene ExpressionCardiomegalyBiologyLeft ventricular hypertrophyCollagen Type IIIEndurance trainingRight ventricular hypertrophyPhysical Conditioning AnimalPhysiology (medical)Internal medicineGene expressionmedicineAnimalsHeart AtriaRNA MessengerRats WistarHypoxiaCardiac muscleBlotting Northernmedicine.diseaseRatsHydroxyprolineAtmospheric PressureEndocrinologymedicine.anatomical_structureMrna levelHypobaric chamberPhysical EnduranceCollagenCardiology and Cardiovascular MedicineBasic Research in Cardiology
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Nitric oxide synthase in identified olivocochlear projection neurons in rat and guinea pig.

1999

Nitric oxide (NO) is thought to be involved in the effects of amino acids at the level of cochlear hair cell afferents. Recently, the isoform of the NO-producing enzyme, neuronal NO synthase (nNOS), has been demonstrated in neuronal structures of the cochlea in rats and guinea pigs histochemically and immunohistochemically. To investigate the sources of cochlear NO, we injected Fluoro-Gold (FG) into the cochlea of rats and guinea pigs. Upon terminal uptake of the tracer and neuronal transport we observed FG in terminals at the base of inner (IHC) and outer hair cells (OHC) and in neurons of the spiral ganglion. Ganglion cells and terminals at the IHC were clearly nNOS-positive, while termin…

MaleAuditory PathwaysStilbamidinesGuinea PigsNitric Oxide Synthase Type IBiologyOlivary NucleusGuinea pigRats Sprague-Dawleyotorhinolaryngologic diseasesmedicineTrapezoid bodyAnimalsInner earCochleaNeuronal transportSpiral ganglionFluorescent DyesNeuronsImmunohistochemistrySensory SystemsCell biologyCochleaRatsmedicine.anatomical_structurenervous systemSuperior olivary complexsense organsNitric Oxide SynthaseNeuroscienceNucleusHearing research
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