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showing 10 items of 1973 documents

Genetic bases of urinary albumin excretion and related traits in hypertension

2010

Epidemiological as well as animal studies have recognized the potential role of genetic factors in the development of microalbuminuria and related traits (renal insufficiency, end-stage renal disease and nephroangiosclerosis) in hypertension. To unravel genetic variants of susceptibility, candidate gene, linkage and genome wide scan analysis has been used. In spite of the great efforts that have been made in the field, sound knowledge about the major genetic variants causing the susceptibility to develop renal damage in hypertension is scarce, since many associations were not replicated or only showed association in a certain subgroup of patients. Looking initially at genes of the most impo…

medicine.medical_specialtyCandidate geneGenetic LinkagePhysiologyGenome-wide association studyDiseaseBioinformaticsGenomeRenin-Angiotensin SystemGenetic linkageInternal medicineInternal MedicinemedicineAlbuminuriaAnimalsHumansGenetic Predisposition to DiseaseNatriuretic PeptidesGenebusiness.industrymedicine.diseaseReceptors AdrenergicOxidative StressEndocrinologyHypertensionAlbuminuriaKallikreinsMicroalbuminuriamedicine.symptomCardiology and Cardiovascular MedicinebusinessGenome-Wide Association StudyJournal of Hypertension
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BMP-2 and bFGF release and in vitro effect on human osteoblasts after adsorption to bone grafts and biomaterials.

2012

Objectives Combination of scaffolds and growth factors is a promising option for several clinical problems in bone biomaterials. Simplified growth factor loading by adsorption from aqueous solution is one important option for this technology. We evaluated the adsorption followed by PBS rinsing, release and biological effect of transient loading with basic fibroblast growth factor (bFGF) and bone morphogenic protein 2 (BMP-2) on fresh frozen bone, processed bone matrix, collagen, and a ceramic material with immunofluorescence, enzyme-linked immunosorbent assay (ELISA), and qRT-PCR. Materials and methods The study consisted of three in vitro experiments (immunofluorescence, ELISA, and qRT-PCR…

medicine.medical_specialtyCeramicsTime Factorsmedicine.medical_treatmentBasic fibroblast growth factorOsteocalcinCell Culture TechniquesBone MatrixBone Morphogenetic Protein 2Fluorescent Antibody TechniqueBiocompatible MaterialsCore Binding Factor Alpha 1 SubunitEnzyme-Linked Immunosorbent AssayBone healingMatrix (biology)Bone morphogenetic proteinBone morphogenetic protein 2Bone and Boneschemistry.chemical_compoundmedicineAnimalsHumansCells CulturedOsteoblastsbiologyTissue ScaffoldsReverse Transcriptase Polymerase Chain ReactionGrowth factorOsteoblastAlkaline PhosphataseSurgerymedicine.anatomical_structureDurapatitechemistryDelayed-Action PreparationsOsteocalcinbiology.proteinBiophysicsNanoparticlesFibroblast Growth Factor 2AdsorptionCollagenOral SurgeryBiomarkersClinical oral implants research
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Therapeutic dosages of oral or transdermal estradiol did not modify sCD40L levels in postmenopausal women.

2008

The CD40/CD40L system is considered a crucial modulator of the inflammatory process underlying the progression and complication of atheroma plaques. The soluble fraction of CD40L (sCD40L) is a reliable indicator of the CD40/CD40L system. Our purpose was to investigate whether a therapeutic dose of estradiol, by either the oral or the transdermal route, was associated with changes in circulating levels of sCD40L. Forty-seven women completed a 4-week course of treatment with either oral estradiol valerate (2 mg/day, 20 women) or transdermal estradiol (50 microg/day, 27 women). Serum levels of sCD40L were measured by conventional enzyme-linked immunosorbent assay. Oral, but not transdermal est…

medicine.medical_specialtyDoseEndocrinology Diabetes and MetabolismCD40 LigandAdministration OralEnzyme-Linked Immunosorbent AssayPharmacologyAdministration CutaneousFollicle-stimulating hormoneEndocrinologyTherapeutic indexInternal medicinemedicineHumansCD40 AntigensTriglyceridesTransdermalmedicine.diagnostic_testEstradiolbusiness.industryTransdermal routeEstradiol valerateObstetrics and Gynecologymedicine.diseaseAtherosclerosisMenopausePostmenopauseEndocrinologyCholesterolFemaleFollicle Stimulating HormoneLipid profilebusinessmedicine.drugGynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
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Alleles and haplotypes of the estrogen receptor alpha gene are associated with an increased risk of spontaneous abortion.

2010

Objective To investigate whether polymorphisms in estrogen receptor alpha (ERα) or beta (ERβ) genes are associated with a risk of miscarriage. Design A retrospectively analyzed, prospectively obtained database of cases and controls. Setting University hospital menopause unit. Patient(s) 177 women with at least one spontaneous abortion and 442 controls with at least one live birth and no history of miscarriage. Intervention(s) None. Main Outcome Measure(s) Genotype frequencies and odd ratios for abortion risk in cases and controls for four single nucleotide polymorphisms (SNPs) located in intron 1 (C>T and A>G), intron 4 (A>T), and exon 8 (T>C) for the ERα gene, and two SNPs located in intro…

medicine.medical_specialtyGenetic LinkageSingle-nucleotide polymorphismAbortionBiologyPolymorphism Single NucleotideGene FrequencyPolymorphism (computer science)PregnancyRisk FactorsInternal medicineGenotypemedicineEstrogen Receptor betaHumansGenetic Predisposition to DiseaseRisk factorAllelesRetrospective StudiesHaplotypeEstrogen Receptor alphaObstetrics and GynecologyMiddle AgedGenotype frequencyAbortion SpontaneousEndocrinologyReproductive MedicineHaplotypesCase-Control StudiesFemaleEstrogen receptor alphaFertility and sterility
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New Melanocortin 1 Receptor Binding Motif Based on the C-Terminal Sequence of ?-Melanocyte-Stimulating Hormone

2006

The C-terminal tripeptide of the alpha-melanocyte stimulating hormone (alpha-MSH11-13) possesses strong antiinflammatory activity without known cellular target. In order to better understand the structural requirements for function of such motif, we designed, synthesized and tested out Trp- and Tyr-containing analogues of the alpha-MSH11-13. Seven alpha-MSH11-13 analogues were synthesized and characterized for their binding to the melanocortin receptors recombinantly expressed in insect (Sf9) cells, infected with baculovirus carrying corresponding MC receptor DNA. We also tested these analogues on B16-F1 mouse melanoma cells endogenously expressing the MC1 receptor for binding and for abili…

medicine.medical_specialtyGrowth-hormone-releasing hormone receptorProtein ConformationAmino Acid MotifsMelanoma ExperimentalBiologyToxicologyBinding CompetitiveMiceThyrotropin-releasing hormone receptorInternal medicineChlorocebus aethiopsmedicineEnzyme-linked receptorAnimalsHumansACTH receptorMelanocyte-Stimulating HormonesReceptorPharmacologyGeneral MedicineMelanocortin 3 receptorCell biologyEndocrinologyCOS CellsEstrogen-related receptor gammaMelanocortinReceptor Melanocortin Type 1Basic <html_ent glyph="@amp;" ascii="&"/> Clinical Pharmacology <html_ent glyph="@amp;" ascii="&"/> Toxicology
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Increased pain and neurogenic inflammation in mice deficient of neutral endopeptidase

2009

The complex regional pain syndrome (CRPS) is characterized by enhanced neurogenic inflammation, mediated by neuropeptides. Neutral endopeptidase (NEP) is a key enzyme in neuropeptide catabolism. We used NEP knock out (ko) mice to investigate whether NEP deficiency leads to increased pain behavior and signs of neurogenic inflammation after soft tissue trauma with and without nerve injury. After chronic constriction injury (CCI) of the right sciatic nerve, NEP ko mice were more sensitive to heat, to mechanical stimuli, and to cold than wild type mice. Tissue injury without nerve injury produced no differences between genotypes. After CCI, NEP ko mice showed increased hind paw edema but lower …

medicine.medical_specialtyHot TemperaturePainSubstance PEnzyme-Linked Immunosorbent AssayCalcitonin gene-related peptideSubstance PEndothelin 1lcsh:RC321-571chemistry.chemical_compoundMiceCGRP catabolismEdemaInternal medicinePhysical StimulationMedicineAnimalsEdemaMuscle SkeletalNeprilysinlcsh:Neurosciences. Biological psychiatry. NeuropsychiatryPain MeasurementSkinMice KnockoutNeurogenic inflammationEndothelin-1business.industryCCIfungiNerve injurymedicine.diseaseNeutral endopeptidaseEndothelin 1Sciatic NerveHindlimbCold TemperatureMice Inbred C57BLComplex regional pain syndromeEndocrinologyNeurologychemistryAnesthesiaNeprilysinmedicine.symptomNeurogenic InflammationbusinessSkin TemperaturePrimarily cold CRPSNeurobiology of Disease
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Comment: Why are females with Fabry disease affected?

2019

medicine.medical_specialtyHunter Syndromebusiness.industryHunter syndromemedicine.diseaseLysosomal Storage DisorderFabry diseaseEndocrinologyEndocrinologyInternal medicineGeneticsmedicineFabry DiseaseX-inactivationX-linked DisorderbusinessMolecular BiologyLetter to the Editor
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Association of ACACB polymorphisms with obesity and diabetes

2011

El pdf del artículo es la versión pre-print.-- et al.

medicine.medical_specialtyLinkage disequilibriumEndocrinology Diabetes and MetabolismPopulationSingle-nucleotide polymorphismType 2 diabetesBiologyBiochemistryPolymorphism Single NucleotideLinkage DisequilibriumCohort StudiesEndocrinologyInternal medicineGeneticsmedicineHumansObesityAlleleeducationMolecular BiologyAllelesGenetic Association StudiesAgedGeneticsACACBAged 80 and overeducation.field_of_studyHaplotypeAcetyl-CoA carboxylaseType 2 diabetesMiddle Agedmedicine.diseasePostmenopauseEndocrinologyDiabetes Mellitus Type 2HaplotypesACACBCase-Control StudiesFemalePolymorphismsAcetyl-CoA Carboxylase
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Genetic variation at the perilipin (PLIN) locus is associated with obesity-related phenotypes in White women

2004

Perilipin coats intracellular lipid droplets and modulates adipocyte lipolysis. We have evaluated the association between several polymorphisms at the perilipin (PLIN) locus (PLIN1 : 6209T > C, PLIN4 : 11482G > A, PLIN5 : 13041A > G, and PLIN6 : 14995A > T) with obesity-related phenotypes in 1589 White subjects randomly selected from a general Spanish population. In women (n = 801), the less common alleles of PLIN1 and PLIN4, in strong linkage disequilibrium (D' : 0.96), were significantly associated with lower body mass index. Carriers of the allele 2 (6209C) at the PLIN1 locus weighed significantly less (-2.2 kg; p = 0.007) than women homozygotes for the wild-type genotype. The same was t…

medicine.medical_specialtyLinkage disequilibriumLocus (genetics)Odds ratioBiologymedicine.diseaseObesityEndocrinologyInternal medicineGenotypeGeneticsPerilipinmedicineAlleleBody mass indexGenetics (clinical)Clinical Genetics
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Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

2008

Blood concentrations of lipoproteins and lipids are heritable1 risk factors for cardiovascular disease2,3. Using genome-wide association data from three studies (n = 8,816 that included 2,758 individuals from the Diabetes Genetics Initiative specific to the current paper as well as 1,874 individuals from the FUSION study of type 2 diabetes and 4,184 individuals from the SardiNIA study of aging-associated variables reported in a companion paper in this issue4) and targeted replication association analyses in up to 18,554 independent participants, we show that common SNPs at 18 loci are reproducibly associated with concentrations of low-density lipoprotein (LDL) cholesterol, high-density lipo…

medicine.medical_specialtyLinkage disequilibriumSingle-nucleotide polymorphismType 2 diabetes030204 cardiovascular system & hematologyBiologyArticle03 medical and health scienceschemistry.chemical_compound0302 clinical medicineHigh-density lipoproteinInternal medicineDiabetes mellitusGeneticsmedicine030304 developmental biologyGenetics0303 health sciencesTriglycerideCholesterolmedicine.disease3. Good healthEndocrinologychemistrylipids (amino acids peptides and proteins)Lipoprotein
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