Search results for "GENETICS"

showing 10 items of 12494 documents

Menopause symptom management in women with dyslipidemias: An EMAS clinical guide.

2020

Abstract Introduction Dyslipidemias are common and increase the risk of cardiovascular disease. The menopause transition is associated with an atherogenic lipid profile, with an increase in the concentrations of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C), triglycerides (TG), apolipoprotein B (apoB) and potentially lipoprotein (a) [Lp(a)], and a decrease in the concentration of high-density lipoprotein cholesterol (HDL-C). Aim The aim of this clinical guide is to provide an evidence-based approach to management of menopausal symptoms and dyslipidemia in postmenopausal women. The guide evaluates the effects on the lipid profile both of menopausal hormone therapy an…

medicine.medical_specialtyTiboloneDydrogesteroneGeneral Biochemistry Genetics and Molecular BiologyVaginal estrogen03 medical and health scienceschemistry.chemical_compound0302 clinical medicineOspemifeneInternal medicinemedicineHumansMass Screening030212 general & internal medicineDyslipidemias030219 obstetrics & reproductive medicinemedicine.diagnostic_testbusiness.industryHypertriglyceridemiaObstetrics and Gynecologymedicine.diseaseLipidsMenopauseEndocrinologychemistrylipids (amino acids peptides and proteins)FemaleMenopauseLipid profilebusinessDyslipidemiamedicine.drugMaturitas
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Release of non-neuronal acetylcholine from the isolated human placenta is affected by antidepressants.

2007

Non-neuronal acetylcholine (ACh) is released from the human placenta into the extracellular space via organic cation transporters (OCTs). The present experiments investigated whether ACh release from epithelial cells is affected by drugs which are substrates of OCTs. The antidepressant drugs amitriptyline and doxepine were tested as both substances are not approved for pregnant women but frequently used. Release of ACh was measured in 10 min intervals over a period of 100 min. Test substances were added from t=50 min of incubation onwards. The effect was calculated by comparing the ACh release of the last three samples (t=70-100 min; B2) with that immediately before the application of the t…

medicine.medical_specialtyTime FactorsAmitriptylinePlacentaVasodilator AgentsPharmacologyIn Vitro TechniquesGeneral Biochemistry Genetics and Molecular BiologyTheophyllinePregnancyInternal medicinemedicineExtracellularHumansHypoglycemic AgentsAmitriptylineGeneral Pharmacology Toxicology and PharmaceuticsIncubationNeuronsOrganic cation transport proteinsbiologyDose-Response Relationship DrugChemistryHuman placentaGeneral MedicineAcetylcholineAntidepressive AgentsMetforminNon neuronal acetylcholineEndocrinologybiology.proteinMinoxidilAntidepressantFemaleDoxepinAcetylcholinemedicine.drugLife sciences
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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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Differential regulation of interleukin-6 expression in human fibroblasts by tumor necrosis factor-alpha and lymphotoxin.

1990

The treatment of human diploid fibroblasts with tumor necrosis factor (TNF)-alpha and with lymphotoxin (LT) is associated with induction of interleukin-6 (IL-6) transcripts with TNF-alpha being 10-fold more potent than LT. Here we report on the TNF-alpha/LT-induced signaling mechanisms responsible for the regulation of IL-6 gene expression in these cells. Run-on assays demonstrated that both TNF-alpha and LT increase IL-6 mRNA levels by transcriptional activation of this gene. Stability studies of IL-6 transcripts in fibroblasts showed that TNF-alpha delayed IL-6 mRNA decay but not LT. The induction of IL-6 transcripts by TNF-alpha and LT was not inhibited by the isoquinoline sulfonamide de…

medicine.medical_specialtyTime FactorsTranscription Geneticmedicine.medical_treatmentCellular differentiationBiophysicsCycloheximideBiologyBiochemistrychemistry.chemical_compoundStructural BiologyInternal medicineGene expressionGeneticsmedicineHumansRNA MessengerMolecular BiologyLymphotoxin-alphaProtein kinase CCells CulturedProtein Kinase CInterleukin-6Tumor Necrosis Factor-alphaCell BiologyFibroblastsMolecular biologyKineticsCytokineLymphotoxinEndocrinologychemistryGene Expression RegulationProtein BiosynthesisTumor necrosis factor alphaSignal transductionFEBS letters
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SAT0132 DOES JANUS KINASE INHIBITION INDUCED HYPERLIPIDAEMIA ASSOCIATE WITH AN INCREASE OF AORTIC STIFFNESS IN PATIENTS WITH ARTHRITIS? PRELIMINARY R…

2020

Background:Treatment with Janus Kinase inhibitors (JAK-i) (Tofacitinib, Baricitinib) can cause an increase of serum lipids such as total cholesterol, low- (LDL) and high- (HDL) density lipoproteins in patients with arthritis (1). On the other hand, JAK-i can reduce systemic inflammation and have therefore a beneficial effect on the cardiovascular system of treated patients. However, the effects of JAK-i on the CV system have not been adequately examined. In particular, we are not aware of any ’’real world’’ data concerning CV risk of patients receiving JAK-i treatment.Stiffness of the aortic vasculature is a modifiable, valid and independent surrogate predictor of CV risk and can be measure…

medicine.medical_specialtyTofacitinibmedicine.diagnostic_testbusiness.industryImmunologyArthritisBlood lipidsmedicine.diseaseGeneral Biochemistry Genetics and Molecular BiologyPsoriatic arthritisRheumatologyInternal medicineRheumatoid arthritisArterial stiffnessCardiologyImmunology and AllergyMedicinebusinessLipid profilePulse wave velocityAnnals of the Rheumatic Diseases
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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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Stress hormones promote growth of B16-F10 melanoma metastases: an interleukin 6- and glutathione-dependent mechanism

2013

[EN] Background: Interleukin (IL)-6 (mainly of tumor origin) activates glutathione (GSH) release from hepatocytes and its interorgan transport to B16-F10 melanoma metastatic foci. We studied if this capacity to overproduce IL-6 is regulated by cancer cell-independent mechanisms. Methods: Murine B16-F10 melanoma cells were cultured, transfected with red fluorescent protein, injected i.v. into syngenic C57BL/6J mice to generate lung and liver metastases, and isolated from metastatic foci using high-performance cell sorting. Stress hormones and IL-6 levels were measured by ELISA, and CRH expression in the brain by in situ hybridization. DNA binding activity of NF-kappa B, CREB, AP-1, and NF-IL…

medicine.medical_specialtyTranscription GeneticMelanoma ExperimentalInterleukin 6ApoptosisEnzyme-Linked Immunosorbent AssayIn situ hybridizationBiologyMetastasesCREBReal-Time Polymerase Chain ReactionGeneral Biochemistry Genetics and Molecular BiologyFlow cytometryMiceNorepinephrineAdrenocorticotropic HormoneInternal medicineCell Line TumormedicineAnimalsNeoplasm MetastasisIn Situ HybridizationMedicine(all)medicine.diagnostic_testBase SequenceBiochemistry Genetics and Molecular Biology(all)Interleukin-6ResearchStress hormonesInterleukinGeneral MedicineTransfectionCell sortingMolecular biologyGlutathionehumanitiesEndocrinologyElectroporationApoptosisbiology.proteinCorticosteroneDNA ProbesHormoneTranscription FactorsJournal of Translational Medicine
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Climate associated variations in the human serum albumin level.

1975

Quantitative determinations of the human serum albumin level showed significantly higher values in tropical (Negroes 46.98 mg/ml, Indians 54.30 mg/ml) than in non-tropical populations (Germans 44.41 mg/ml). These observations are in agreement with those of several other authors. It is assumed that these variations in the serum albumin level are related to climate, and that they may indicate some biological advantage of higher albumin levels under the climatic conditions of tropical biotops. This hypothesis is discussed considering several aspects.

medicine.medical_specialtyTropical ClimatebiologyClimateSerum albuminAlbuminHuman serum albuminMolecular medicineEndocrinologySerum albumin levelInternal medicineImmunologyGeneticsmedicinebiology.proteinHumansMetabolic diseaseGenetics (clinical)Serum Albuminmedicine.drugHumangenetik
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Proliferative effect of acetylcholine on rat trachea epithelial cells is mediated by nicotinic receptors and muscarinic receptors of the M1-subtype.

2003

Acetylcholine (ACh), synthesized in mammalian non-neuronal cells such as epithelial cells of the airways, digestive tract and skin, is involved in the regulation of basic cell functions (so-called non-neuronal cholinergic system). In the present experiments rat trachea epithelial cells have been cultured to study the proliferative effect of applied ACh by [3H]thymidine incorporation. ACh (exposure time 24 h) caused a concentration-dependent increase in cell proliferation with a doubling of the [3H]thymidine incorporation at a concentration of 0.1 microM. This effect was partly reduced by 30 microM tubocurarine and completely abolished by the additional application of 1 microM atropine. The …

medicine.medical_specialtyTubocurarineMuscarinic AntagonistsNicotinic AntagonistsBiologyReceptors NicotinicGeneral Biochemistry Genetics and Molecular BiologyRats Sprague-DawleyInternal medicineMuscarinic acetylcholine receptormedicineMuscarinic acetylcholine receptor M4AnimalsGeneral Pharmacology Toxicology and PharmaceuticsNicotinic AntagonistReceptor Muscarinic M1Muscarinic acetylcholine receptor M3Muscarinic acetylcholine receptor M2Epithelial CellsGeneral MedicineMolecular biologyPirenzepineReceptors MuscarinicAcetylcholineRatsTracheaAtropineEndocrinologyAcetylcholineCell Divisionmedicine.drugThymidineLife sciences
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Loss of a novel tumor suppressor gene locus at chromosome 8p is associated with leukemic mantle cell lymphoma

2001

Abstract Patients with mantle cell lymphoma (MCL) may present with either nodal or leukemic disease. The molecular determinants underlying this different biologic behavior are not known. This study compared the pattern of genetic abnormalities in patients with nodal and leukemic phases of MCL using comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) for specific gene loci. Although both leukemic and nodal MCL showed similar genomic patterns of losses (involving 6q, 11q22-q23, 13q14, and 17p13) and gains (affecting 3q and 8q), genomic loss of chromosome 8p occurred more frequently in patients with leukemic disease (79% versus 11%,P < .001). Subsequent…

medicine.medical_specialtyTumor suppressor geneImmunologyGenes mycLocus (genetics)Lymphoma Mantle-CellBiologyBiochemistryMYC Gene AmplificationGene duplicationmedicineHumansGenes Tumor SuppressorIn Situ Hybridizationmedicine.diagnostic_testGene AmplificationCytogeneticsNucleic Acid HybridizationCell BiologyHematologyPrognosismedicine.diseaseCancer researchMantle cell lymphomaGene DeletionChromosomes Human Pair 8Fluorescence in situ hybridizationComparative genomic hybridizationBlood
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