Search results for "polymorph"

showing 10 items of 2115 documents

Association between platelet glycoprotein Ib-alpha and myocardial infarction: results of a pilot study performed in male and female patients from Sic…

2007

Myocardial infarction (AMI) is a complex multifactorial disorder. Platelet adhesion and thrombosis are pivotal events in the development of atherosclerotic lesions. Occlusive thrombus is almost exclusively initiated by plaque rupture and adhesion of platelets to subendothelial von Willebrand factor (vWf) by its specific platelet receptor, the alpha-chain of glycoprotein (GP) Ib-IX-V complex of the human platelet-specific antigens (HPA). Two polymorphisms have been reported in the sequence of GPIb-alpha. The first, a C/T transition at nucleotide 1018 results in an amino acid dimorphism (Thr/Met) at residue 145 of GPIb-alpha, which is located within the vWF-binding domain of the receptor. The…

AdultMalemedicine.medical_specialtyKozak consensus sequenceMyocardial InfarctionPilot ProjectsPlatelet membrane glycoproteinGeneral Biochemistry Genetics and Molecular BiologyHistory and Philosophy of ScienceAntigenVon Willebrand factorGene FrequencyPolymorphism (computer science)Internal medicinevon Willebrand FactormedicineHumansPlateletSicilyAllelesPolymorphism Geneticbiologybusiness.industryGeneral NeurosciencePlatelet Glycoprotein GPIb-IX ComplexMiddle AgedEndocrinologyCoagulationPlatelet Glycoprotein GPIb-IX ComplexCase-Control StudiesImmunologybiology.proteinFemalebusinessAnnals of the New York Academy of Sciences
researchProduct

Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)

2010

Complex regional pain syndrome (CRPS) is a condition that is characterized by severe pain and exaggerated neurogenic inflammation, which may develop after injury or surgery. Neurogenic inflammation is mediated by neuropeptides, such as calcitonin gene-related peptide (CGRP) and substance P (SP) that are released from nociceptors. Genetic factors may play a role in CRPS as was suggested by the occurrence of familial cases and several genetic association studies investigating mainly the human leukocyte antigen (HLA) system. Here we investigated the role of neutral endopeptidase (NEP), a key enzyme in neuropeptide catabolism. NEP dysfunction resulting in reduced inactivation of neuropeptides m…

AdultMalemedicine.medical_specialtyLinkage disequilibrium5' Flanking RegionSubstance PHuman leukocyte antigenBiologyCalcitonin gene-related peptideLinkage Disequilibriumchemistry.chemical_compoundInternal medicinemedicineHumansGenetic Predisposition to DiseaseDinucleotide RepeatsPromoter Regions GeneticNeprilysinGenetic Association StudiesGenetic associationNeurogenic inflammationPolymorphism GeneticGeneral NeurosciencefungiMiddle Agedmedicine.diseaseCRPS Pain NEP Association reflex sympathetic dystrophy syndrome type-i facilitated neurogenic inflammation nociceptive abnormalities alzheimers-disease neprilysin gene rat model enkephalinase prevalence dystoniaEndocrinologyComplex regional pain syndromechemistryCase-Control StudiesFemaleNeprilysinComplex Regional Pain Syndromes
researchProduct

Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega stu…

2009

The aim of the study was to determine the influence of twenty single nucleotide polymorphisms (SNPs) of the ABCA1, ABCG1, ABCG5 and ABCG8 genes on the plasmatic concentrations of total cholesterol (TC), HDL and LDL cholesterol (HDLc, LDLc) in the postprandial state with a representative Spanish Caucasian population (1473 individuals, 50.0% women, ages ranging 21-85 years). In men, subjects with the AA genotype of the ABCA1 rs2230806 (R219K) polymorphism were associated with increased plasma LDLc levels, while the ABCA1 haplotype, which included the rs2230806 A allele, was associated with higher TC and LDLc plasma concentrations. In women, significant relationships were found between rs18935…

AdultMalemedicine.medical_specialtyLipoproteinsBlood lipidsSingle-nucleotide polymorphismHyperlipidemiasBiologyPolymorphism Single Nucleotidechemistry.chemical_compoundHigh-density lipoproteinPolymorphism (computer science)Internal medicineGenotypemedicineHumansATP Binding Cassette Transporter Subfamily G Member 5AllelesATP Binding Cassette Transporter Subfamily G Member 1AgedGeneticsAged 80 and overCholesterolHaplotypeATP Binding Cassette Transporter Subfamily G Member 8Cholesterol HDLMiddle AgedAtherosclerosisPostprandial PeriodPostprandialEndocrinologyCholesterolchemistryHaplotypesSpainlipids (amino acids peptides and proteins)ATP-Binding Cassette TransportersFemaleCardiology and Cardiovascular MedicineATP Binding Cassette Transporter 1Atherosclerosis
researchProduct

Polymorphonuclear leukocyte membrane fluidity and insulin resistance in obese subjects.

2002

AdultMalemedicine.medical_specialtyMembrane FluidityNeutrophilsEndocrinology Diabetes and MetabolismMedicine (miscellaneous)EndocrinologyInsulin resistanceInternal medicinemedicineMembrane fluidityHumansObesityPolymorphonuclear leukocytebusiness.industryCell MembranePublic Health Environmental and Occupational HealthMiddle Agedmedicine.diseaseEndocrinologyFemaleObese subjectsInsulin ResistancebusinessFood Science
researchProduct

Transforming growth factor beta1 T29C gene polymorphism and hypertension: relationship with cardiovascular and renal damage.

2008

Distribution of T29C TGFβ1 gene polymorphism was analysed in 260 hypertensive and 134 normotensive subjects. Circulating TGFβ1 and procollagen type III levels, microalbuminuria, left ventricular geometry and function were evaluated in all the hypertensives subgrouped according to T29C TGFβ1 gene polymorphism. Circulating TGFβ1 by ELISA technique, procollagen type III by a specific radioimmunoassay, microalbuminuria by radioimmunoassay, left ventricular geometry and function by echocardiography were determined. All groups were comparable for gender, age and sex. Regarding T29C TGFβ1 gene polymorphism, prevalence of TC or CC genotypes was significantly (p < 0.05) higher in hypertensives th…

AdultMalemedicine.medical_specialtyMetabolic Clearance RateRadioimmunoassayEnzyme-Linked Immunosorbent AssayLeft ventricular hypertrophyTransforming Growth Factor beta1Procollagen type IIIElectrocardiographyInternal medicineGenotypeInternal MedicinemedicineAlbuminuriaHumansCirculating TGFβ1 Hypertension Left ventricular hypertrophy Microalbuminuria Procollagen type III TGFβ1 gene polymorphismPolymorphism GeneticRenal damagebusiness.industryRadioimmunoassayGeneral MedicineMiddle Agedmedicine.diseaseEndocrinologyCollagen Type IIICase-Control StudiesCreatinineHypertensionMicroalbuminuriaFemaleHypertrophy Left VentricularGene polymorphismCardiology and Cardiovascular MedicinebusinessProcollagenTransforming growth factorBlood pressure
researchProduct

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

1999

Muscle contraction results from the force generated between the thin filament protein actin and the thick filament protein myosin, which causes the thick and thin muscle filaments to slide past each other. There are skeletal muscle, cardiac muscle, smooth muscle and non-muscle isoforms of both actin and myosin. Inherited diseases in humans have been associated with defects in cardiac actin (dilated cardiomyopathy and hypertrophic cardiomyopathy), cardiac myosin (hypertrophic cardiomyopathy) and non-muscle myosin (deafness). Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess o…

AdultMalemedicine.medical_specialtyMyofilamentAdolescentDNA Mutational AnalysisMolecular Sequence Datamacromolecular substancesBiologyMyopathies NemalineTPM203 medical and health sciences0302 clinical medicineNemaline myopathyMuscular DiseasesInternal medicineMyosinGeneticsmedicineHumansPoint MutationAmino Acid SequenceChildMuscle SkeletalPolymorphism Single-Stranded ConformationalActin030304 developmental biologyFamily Health0303 health sciencesPolymorphism GeneticBase SequenceSequence Homology Amino AcidInfantSkeletal muscleDNASequence Analysis DNAmedicine.diseaseCongenital myopathyActins3. Good healthEndocrinologymedicine.anatomical_structureAmino Acid SubstitutionChild PreschoolMutationFemaleMYH7030217 neurology & neurosurgery
researchProduct

A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol

2007

Objectives— The PCSK9 gene, encoding a pro-protein convertase involved in posttranslational degradation of low-density lipoprotein receptor, has emerged as a key regulator of plasma low-density lipoprotein cholesterol. In African-Americans two nonsense mutations resulting in loss of function of PCSK9 are associated with a 30% to 40% reduction of plasma low-density lipoprotein cholesterol. The aim of this study was to assess whether loss of function mutations of PCSK9 were a cause of familial hypobetalipoproteinemia and a determinant of low-plasma low-density lipoprotein cholesterol in whites. Methods and Results— We sequenced PCSK9 gene in 18 familial hypobetalipoproteinemia subjects and i…

AdultMalemedicine.medical_specialtyNonsense mutationBiologymedicine.disease_causePolymorphism Single NucleotideRisk AssessmentSensitivity and SpecificityStatistics NonparametricWhite Peopleloss of function mutationHypobetalipoproteinemiaschemistry.chemical_compoundPCSK9 GeneGene FrequencyInternal medicinemedicineHumansGenetic Predisposition to DiseaseMutationhypocholesterolemiaCholesterolIncidencePCSK9Serine EndopeptidasesCholesterol LDLmedicine.diseaseHypocholesterolemiaEndocrinologyfamilial hypobetalipoproteinemiachemistryCodon NonsensePCSK9 geneCase-Control Studiesfamilial hypobetalipoproteinemia hypocholesterolemia loss of function mutation PCSK9 genefamilial hypobetalipoproteinemia; hypocholesterolemia; loss of function mutation; PCSK9 gene.FemaleProprotein ConvertasesHypobetalipoproteinemiaProprotein Convertase 9Cardiology and Cardiovascular MedicineLipoprotein
researchProduct

SELPLG Gene Polymorphisms in Relation to Plasma SELPLG Levels and Coronary Artery Disease

2003

P-selectin and P-selectin glycoprotein ligand (SELPLG, selectin P ligand) constitute a receptor/ligand complex that is likely to be involved in the development of atherosclerosis and its complications. While the genetic variability of P-selectin has already been investigated in depth, that of the SELPLG gene has not yet been extensively explored. The coding and regulatory sequences of the SELPLG were screened and nine polymorphisms were identified. The identified polymorphisms were genotyped in the AtheroGene study, a case-control study of coronary artery disease (CAD). Haplotype analysis revealed that two polymorphisms of SELPLG, the M62I and the VNTR, independently influenced plasma SELPL…

AdultMalemedicine.medical_specialtyP-selectinEnzyme-Linked Immunosorbent AssayCoronary Artery DiseaseBiologyLigandsPolymerase Chain ReactionCoronary artery diseaseGene FrequencySELPLG GeneInternal medicineGeneticsmedicineHumansGenetic variabilityReceptorGenePolymorphism Single-Stranded ConformationalTriglyceridesGenetics (clinical)GeneticsMembrane GlycoproteinsPolymorphism GeneticHaplotypemedicine.diseaseP-SelectinCholesterolEndocrinologyHaplotypesRegulatory sequenceFemaleAnnals of Human Genetics
researchProduct

Screening for Fabry disease in male patients with arrhythmia requiring a pacemaker or an implantable cardioverter-defibrillator

2021

AdultMalemedicine.medical_specialtyPacemaker Artificialcardiacmedicine.medical_treatmentArrhythmiasPolymorphism Single Nucleotidediagnostic screening programsPhysiology (medical)Internal medicinemedicineHumansProspective StudiesAgedFabry diseasebusiness.industryArrhythmias CardiacSequence Analysis DNAMiddle Agedmedicine.diseaseImplantable cardioverter-defibrillatorFabry diseaseDefibrillators ImplantableMale patientalpha-GalactosidaseCardiologyDried Blood Spot TestingHuman medicinebusinessCardiology and Cardiovascular MedicineCirculation
researchProduct

CYP2C8 gene polymorphism and bisphosphonate-related osteonecrosis of the jaw in patients with multiple myeloma

2011

Osteonecrosis of the jaw is an uncommon but potentially serious complication of bisphosphonate therapy in multiple myeloma. Previous studies showed that the presence of one or two minor alleles of the cytochrome P450, subfamily 2C polypeptide 8 gene (CYP2C8) polymorphism rs1934951 was an independent prognostic marker associated with development of osteonecrosis of the jaw in multiple myeloma patients treated with bisphosphonates. The aim of this study was to validate the frequency of SNP rs193451 in 79 patients with multiple myeloma. In 9 (22%) patients developing osteonecrosis of the jaw, a heterozygous genotype was found, in contrast with those who did not develop osteonecrosis of the jaw…

AdultMalemedicine.medical_specialtyPathologyCYP2C8Genotypemedicine.medical_treatmentONJGastroenterologyPolymorphism Single NucleotideCytochrome P-450 CYP2C8stomatognathic systemInternal medicineGenotypemedicineSNPHumansAllelebisphosphonatesMultiple myelomaAllelesAgedAged 80 and overBisphosphonate-associated osteonecrosis of the jawbusiness.industryHematologyBisphosphonateMiddle Agedmedicine.diseasemultiple myelomastomatognathic diseasesBisphosphonate-Associated Osteonecrosis of the JawFemaleBrief ReportsAryl Hydrocarbon HydroxylasesOsteonecrosis of the jawComplicationbusinessMultiple Myeloma
researchProduct