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showing 10 items of 10618 documents

PPAR alpha gene variants as predicted performance-enhancing polymorphisms in professional Italian soccer players

2014

Patrizia Proia,1 Antonino Bianco,1 Gabriella Schiera,2 Patrizia Saladino,2 Valentina Contrò,1 Giovanni Caramazza,3 Marcello Traina,1 Keith A Grimaldi,4 Antonio Palma,1 Antonio Paoli5 1Sport and Exercise Sciences Research Unit, 2Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy; 3Regional Sports School of CONI Sicilia, Sicily, Italy; 4Biomedical Engineering Laboratory, Institute of Communication and Computer Systems, National Technical University of Athens, Athens, Greece; 5Department of Biomedical Sciences, University of Padova, Padua, Italy Background: The PPARα gene encodes the peroxisome proliferato…

medicine.medical_specialtyTaqIperoxisome proliferator-activator receptor alpha endurance athletesG allelegene variantsPCR-RFLPchemistry.chemical_compoundBlood serumPolymorphism (computer science)Endurance trainingInternal medicineSettore BIO/10 - BiochimicaGenotypemedicineAlleleOpen Access Journal of Sports MedicineOriginal Researchmedicine.diagnostic_testbusiness.industryEndocrinologychemistryendurance athleteRestriction fragment length polymorphismbusinessLipid profilehuman activities
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Effect of CYP1A1 Gene Polymorphisms on Estrogen Metabolism and Bone Density

2004

UNLABELLED: In this study, we evaluated the effect of polymorphisms of the CYP1A1 gene, linked to hormone-related cancers, on estrogen metabolism and BMD. We found that variants carrying the A allele (CA and AA) for the C4887A polymorphism have a significantly higher degree of estrogen catabolism and lower femoral BMD. INTRODUCTION: Polymorphisms of the CYP1A1 gene, one of the key enzymes that metabolize estrogen, have been linked with hormone-related cancers. We investigated the impact of these polymorphisms on estrogen metabolism and BMD, which is another hormone-dependent health issue. MATERIALS AND METHODS: One hundred seventy postmenopausal women (mean age, 63.5 +/- 0.6 years) particip…

medicine.medical_specialtyTime FactorsGenotypeBone densitymedicine.drug_classEndocrinology Diabetes and MetabolismOsteoporosisRadioimmunoassayBiologyArticleCollagen Type IBone resorptionImmunoenzyme TechniquesAbsorptiometry PhotonBone DensityRisk FactorsInternal medicinehormones and receptorGenotypeCytochrome P-450 CYP1A1medicineHumansosteoporosiOrthopedics and Sports MedicineFemurBone ResorptionAllelesAgedPolymorphism GeneticEstradiolgenetic researchEstrogensMiddle Agedmedicine.diseaseGenotype frequencyPostmenopauseMenopauseEndocrinologyEstrogenepidemiologyFemaleCollagenGene polymorphismMenopausePeptidesPolymorphism Restriction Fragment LengthJournal of Bone and Mineral Research
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Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possi…

2009

Pompe disease is a rare, autosomal-recessive disorder which results from a defect in the lysosomal enzyme acid alpha-glucosidase (GAA). The onset of this disease is highly variable, with infantile types being the most severe. Traditionally, lymphocytes, fibroblasts or muscle biopsies were necessary for enzyme activity measurement, because these materials do not express maltase-glucoamylase (MGA) that interferes with the assay. Recently, acarbose was found to inhibit MGA activity selectively, so that dried blood became accessible for GAA assessment.To evaluate the diagnostic efficacy of GAA measurement in dried blood specimens (DBSs) in comparison with lymphocytes. If DBSs provided reliable …

medicine.medical_specialtyTime FactorsLymphocyteBiopsyNeonatal ScreeningInternal medicineBiopsyGeneticsmedicineHumansFalse Positive ReactionsFluorometryLymphocytesGenetics (clinical)Acarbosechemistry.chemical_classificationNewborn screeningmedicine.diagnostic_testbiologybusiness.industryGlycogen Storage Disease Type IIMusclesInfant NewbornReproducibility of Resultsalpha-GlucosidasesEnzyme replacement therapyFibroblastsHydrogen-Ion ConcentrationEnzyme assaymedicine.anatomical_structureEndocrinologyEnzymechemistryCarbohydrate Metabolism Disorderbiology.proteinFeasibility Studiesbusinessmedicine.drugJournal of inherited metabolic disease
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Female obesity: short- and long-term consequences on the offspring

2013

The worldwide prevalence of obesity has risen over the past few decades and women are currently more likely than ever to enter pregnancy obese. Pre-pregnancy obesity and excessive gestational weight gain increase miscarriage rates and obstetric and neonatal complications, which result in a lower healthy live birth rate. In addition to its negative consequences for the mother, obesity has been shown to be an important risk factor for chronic illnesses, such as cardiovascular disease, metabolic syndrome and type 2 diabetes in the adolescence and adulthood of the offspring. Moreover, maternal obesity causes psychological problems, physical disabilities and higher healthcare costs. Fetal progra…

medicine.medical_specialtyTime FactorsOffspringEndocrinology Diabetes and MetabolismBirth weightType 2 diabetesManagement of obesityMiscarriageFetal DevelopmentEndocrinologyPregnancyRisk FactorsmedicineHumansObesityPregnancybusiness.industryObstetricsObstetrics and Gynecologymedicine.diseaseObesityPregnancy ComplicationsPrenatal Exposure Delayed EffectsFemaleMetabolic syndromebusinessGynecological Endocrinology
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Acute exercise induced changes in rat skeletal muscle mRNAs and proteins regulating type IV collagen content

2001

This experiment tested the hypothesis that running-induced damage to rat skeletal muscle causes changes in synthesis and degradation of basement membrane type IV collagen and to proteins regulating its degradation. Samples from soleus muscle and red and white parts of quadriceps femoris muscle (MQF) were collected 6 h or 1, 2, 4, or 7 days after downhill running. Increased muscle β-glucuronidase activity indicated greater muscle damage in the red part of MQF than in the white part of MQF or soleus. In the red part of MQF, type IV collagen expression was upregulated at the pretranslational level and the protein concentration decreased, whereas matrix metalloproteinase-2 (MMP-2), a protein th…

medicine.medical_specialtyTime FactorsTranscription GeneticPhysiologyPhysical ExertionMatrix metalloproteinaseBiologyRunningType IV collagenPhysiology (medical)Internal medicineGene expressionmedicineAnimalsRNA MessengerRats WistarMuscle SkeletalGlucuronidaseSoleus muscleBasement membranechemistry.chemical_classificationTissue Inhibitor of Metalloproteinase-2Tissue Inhibitor of Metalloproteinase-1Skeletal muscleTissue inhibitor of metalloproteinaseRatsmedicine.anatomical_structureEndocrinologyGene Expression RegulationMatrix Metalloproteinase 9chemistryProtein BiosynthesisMuscle Fibers Fast-TwitchMatrix Metalloproteinase 2FemaleCollagenGlycoproteinAmerican Journal of Physiology-Regulatory, Integrative and Comparative Physiology
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Celiac disease and endocrine autoimmunity.

2015

<b><i>Background:</i></b> Celiac disease (CD) is a small-intestinal inflammatory disease that is triggered by the ingestion of the storage proteins (gluten) of wheat, barley and rye. <b><i>Key Messages:</i></b> Endocrine autoimmunity is prevalent in patients with CD and their relatives. The genes that predispose to endocrine autoimmune diseases, e.g. type 1 diabetes, autoimmune thyroid diseases, and Addison's disease, i.e. DR3-DQ2 and DR4-DQ8, are also the major genetic determinants of CD, which is the best understood HLA-linked disease. Thus, up to 30% of first-degree relatives both of patients with CD and/or endocrine autoimmunity are affect…

medicine.medical_specialtyTissue transglutaminaseAutoimmunityEndocrine SystemDiseasemedicine.disease_causeAutoantigensAutoimmunityImmune systemInternal medicinemedicineEndocrine systemHumanschemistry.chemical_classificationType 1 diabetesbiologybusiness.industryThyroidGastroenterologynutritional and metabolic diseasesGeneral Medicinemedicine.diseaseGlutenCeliac DiseaseEndocrinologymedicine.anatomical_structurechemistrybiology.proteinbusinessDigestive diseases (Basel, Switzerland)
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Efficacy of botulinum toxin in the treatment of bruxism : systematic review

2019

Background Currently it has been shown that botulinum toxin is effective for a wide variety of medical conditions, and can be applied for therapeutic purposes as cosmetic. In recent years, there has been a growing trend in the use of this drug substance to control the muscular overactivity of bruxism. The objective of this study was the use of botulinum toxin type A (BTX-A) than traditional methods, by conducting a systematic review of randomized clinical trials (RCTs) published in the health sciences literature. Material and Methods An electronic search was made in the databases of the PubMed, Cochrane Library and Scopus data between March and October 2017, ECA, which will analyze the effe…

medicine.medical_specialtyToxina botulínicaMEDLINEReviewCochrane LibraryPlaceboInjections Intramuscularlaw.inventionMasseter muscleOcclusal Splints03 medical and health sciences0302 clinical medicineRandomized controlled triallawBotulinum toxinmedicineHumansBotulinum Toxins Type AGeneral DentistryOral Medicine and Pathologybusiness.industryMasseter MuscleBruxisme030206 dentistry:CIENCIAS MÉDICAS [UNESCO]Botulinum toxinstomatognathic diseasesOtorhinolaryngologyNeuromuscular AgentsUNESCO::CIENCIAS MÉDICASPhysical therapySurgeryBruxismbusinessBiomedical sciencesmedicine.drug
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Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.

2001

Basement membrane (BM) morphogenesis is critical for normal kidney function. Heterotrimeric type IV collagen, composed of different combinations of six alpha-chains (1-6), is a major matrix component of all BMs (ref. 2). Unlike in other BMs, glomerular BM (GBM) contains primarily the alpha 3(IV) and alpha 4(IV) chains, together with the alpha 5(IV) chain. A poorly understood, coordinated temporal and spatial switch in gene expression from ubiquitously expressed alpha 1(IV) and alpha 2(IV) collagen to the alpha 3(IV), alpha 4(IV) and alpha 5(IV) chains occurs during normal embryogenesis of GBM (ref. 4). Structural abnormalities of type IV collagen have been associated with diverse biological…

medicine.medical_specialtyTranscription GeneticCellular differentiationKidney GlomerulusLIM-Homeodomain ProteinsMolecular Sequence DataBiologyBasement MembraneType IV collagenMiceNail-Patella SyndromeInternal medicineGeneticsmedicineGoodpasture syndromeAnimalsRenal InsufficiencyAlport syndromeNail patella syndromeBasement membraneRegulation of gene expressionHomeodomain ProteinsGlomerular basement membranemedicine.diseaseMolecular biologyMice Mutant StrainsExtracellular Matrixmedicine.anatomical_structureEndocrinologyGene Expression RegulationCollagenTranscription FactorsNature genetics
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Developmental expression of human cartilage matrix protein.

1994

Cartilage matrix protein (CMP) is a non-collagenous component of cartilage with a yet unknown function. In this study we used in situ hybridization to investigate the temporal and sptial distribution of CMP transcripts during human embryonic and early fetal development, and compared it to the pattern of expression observed for collagen types I, II, X, and decorin. The distribution of CMP and collagen type II transcripts followed a similar pattern in the embryonic bone anlage, the fetal growth plate, and the developing vertebral column. Expression was highest in the upper hypertrophic and lower proliferative zone, whereas calcified cartilage was negative throughout the different stages of bo…

medicine.medical_specialtyTranscription GeneticDecorinBiologyMatrix (biology)Cartilage Oligomeric Matrix ProteinKidneyChondrocyteBone and BonesExtracellular matrixEmbryonic and Fetal DevelopmentInternal medicinemedicinePerichondriumHumansMatrilin ProteinsRNA MessengerIn Situ HybridizationGlycoproteinsSkinExtracellular Matrix ProteinsCartilageCell DifferentiationDNAChondrogenesisSpineCell biologycarbohydrates (lipids)Collagen type I alpha 1Endocrinologymedicine.anatomical_structureCartilagePhenotypeJointsProteoglycansCollagenDecorinDevelopmental BiologyDevelopmental dynamics : an official publication of the American Association of Anatomists
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Histamine up-regulates phosphodiesterase 4 activity and reduces prostaglandin E2-inhibitory effects in human neutrophils.

2000

Objective: To investigate whether histamine produces up-regulation of phosphodiesterase (PDE) activity with functional consequences in human peripheral blood neutrophils.¶Methods: PDE activity was studied by a radioisotopic method following anion-exchange chromatography. Reverse transcriptase-polymerase chain reaction (RT-PCR) was used for detection of mRNA transcripts of PDE4 subtypes. Cyclic AMP (cAMP) levels were measured by enzyme-immunoassay, and superoxide generation by cytochrome c reduction.¶Treatment: Neutrophils were incubated for 4 h with histamine (1 μM).¶Results: PDE4 was the only isoenzyme activity increased in treated neutrophils. Kinetic analysis showed a ∼1.5-fold increase …

medicine.medical_specialtyTranscription GeneticNeutrophilsImmunologyHeterologousBiologyDinoprostoneNeutrophil Activationchemistry.chemical_compoundPDE4BSuperoxidesInternal medicinemedicineCyclic AMPHumansProtein IsoformsRNA MessengerProstaglandin E2PharmacologyMessenger RNASuperoxideCytochrome cZymosanPhosphodiesteraseOpsonin ProteinsMolecular biologyCyclic Nucleotide Phosphodiesterases Type 4KineticsEndocrinologychemistry3'5'-Cyclic-AMP Phosphodiesterasesbiology.proteinHistaminemedicine.drugHistamineInflammation research : official journal of the European Histamine Research Society ... [et al.]
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