Search results for "porter"

showing 10 items of 920 documents

Defects in the Human Leukocyte Antigen Class I Antigen Processing Machinery in Head and Neck Squamous Cell Carcinoma: Association with Clinical Outco…

2005

AbstractPurpose: Human leukocyte antigen (HLA) class I antigen defects, which are frequently present in head and neck squamous cell carcinoma (HNSCC) cells may provide the tumor with an escape mechanism from immune surveillance. Scanty information is available about mechanisms underlying HLA class I antigen defects in both lesions and cell lines from HNSCC. In this study, we investigate the role of antigen processing machinery (APM) component abnormalities in the generation of deficient HLA class I surface expression of HNSCC cells.Experimental Design: Using immunohistochemistry, Western blot, and RT-PCR analyses we correlated the expression of the IFN-γ inducible proteasome subunits and of…

AdultMaleProteasome Endopeptidase ComplexCancer ResearchPathologymedicine.medical_specialtyBlotting WesternDown-RegulationHuman leukocyte antigenBiologyCell LineInterferon-gammaATP Binding Cassette Transporter Subfamily B Member 3HLA AntigensMultienzyme ComplexesCell Line TumorTumor Cells Culturedotorhinolaryngologic diseasesmedicineCarcinomaHumansATP Binding Cassette Transporter Subfamily B Member 2AgedReverse Transcriptase Polymerase Chain ReactionAntigen processingHistocompatibility Antigens Class ICancerMiddle Agedmedicine.diseaseImmunohistochemistrySurvival AnalysisHead and neck squamous-cell carcinomaGene Expression Regulation NeoplasticCysteine Endopeptidasesstomatognathic diseasesOncologyHead and Neck NeoplasmsCarcinoma Squamous Cellbiology.proteinImmunohistochemistryTAP2ATP-Binding Cassette TransportersFemaleTAP1Clinical Cancer Research
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High-dose short-term administration of naringin did not alter talinolol pharmacokinetics in humans.

2015

Naringin is considered the major causative ingredient of the inhibition of intestinal drug uptake by grapefruit juice. Moreover, it is contained in highly dosed nutraceuticals available on the market. A controlled, open, randomized, crossover study was performed in 10 healthy volunteers to investigate the effect of high-dose naringin on the bioavailability of talinolol, a substrate of intestinal organic anion-transporting polypeptide (OATP)-mediated uptake. Following 6-day supplementation with 3 capsules of 350 mg naringin daily, 100mg talinolol were administered orally with 3 capsules of the same dietary supplement (1050 mg naringin) on the seventh day. This test treatment was compared to …

AdultMalefood.ingredientAdrenergic beta-AntagonistsPharmaceutical ScienceOrganic Anion TransportersPharmacologyPolymorphism Single NucleotideDosage formGrapefruit juicePropanolamineschemistry.chemical_compoundFood-Drug InteractionsYoung AdultNutraceuticalfoodPharmacokineticsHumansNaringinDosage FormsCross-Over StudiesDose-Response Relationship DrugChemistryCrossover studyBioavailabilityDietary SupplementsFlavanonesFemaleTalinololCitrus paradisiEuropean journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences
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Influence of CYP3A5 and ABCB1 gene polymorphisms and other factors on tacrolimus dosing in Caucasian liver and kidney transplant patients

2011

Tacrolimus is a substrate of cytochrome P4503A (CYP3A) enzymes as well as of the drug transporter ABCB1. We have investigated the possible influence of CYP3A5 and ABCB1 single nucleotide polymorphisms (SNPs) and other factors (e.g. albumin, hematocrit and steroids) on tacrolimus blood levels achieved in a population of Caucasian liver (n=51) and kidney (n=50) transplant recipients. At 1, 3 and 6 months after transplantation, tacrolimus doses (mg/kg/day) and trough blood levels (C0) were recorded and the weight-adjusted tacrolimus dosage (mg/kg/day) was calculated. Polymerase chain reaction followed by restriction fragment length polymorphism analysis was used for genotyping CYP3A5*1 and *3 …

AdultMalemedicine.medical_specialtyATP Binding Cassette Transporter Subfamily BGenotypemedicine.medical_treatmentDNA Mutational AnalysisPopulationSingle-nucleotide polymorphismLiver transplantationBiologyKidneyPolymorphism Single NucleotideGastroenterologyBiomarkers PharmacologicalTacrolimusWhite PeopleGene FrequencyInternal medicineGeneticsmedicineCytochrome P-450 CYP3AHumansDrug Dosage CalculationsATP Binding Cassette Transporter Subfamily B Member 1educationAllele frequencyAllelesKidney transplantationAgededucation.field_of_studyKidney metabolismGeneral MedicineMiddle Agedmedicine.diseaseKidney TransplantationTacrolimusLiver TransplantationTransplantationsurgical procedures operativeItalyLiverImmunologySettore BIO/14 - FarmacologiaPharmacogenetics CYP3A5 ABCB1 TacrolimusTransplant patientsFemaleImmunosuppressive AgentsPolymorphism Restriction Fragment LengthInternational Journal of Molecular Medicine
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Adult attachment and gene polymorphisms of the dopamine D4 receptor and serotonin transporter (5-HTT).

2010

Recently, the Dopamine D4 Receptor Gene (DRD4) and the Serotonin Transporter Gene (5-HTT) have been found to be candidate genes for infant attachment disorganization. The present study aimed to explore the relationship of these genes to adult attachment representations. The Adult Attachment Interview was used to assess attachment representations in 167 German adults. DNA from buccal cells was genotyped for the DRD4 VNTR Exon III and 5-HTT LPR polymorphisms with respect to the presence of the 7repeat allele and the short allele, respectively. DRD4 7repeat allele carriers were significantly more likely to be securely attached than those without 7repeat but only for subjects with unloving care…

AdultMalemedicine.medical_specialtyCandidate geneGenotypePsychometricsStatistics as TopicExonDopamineRisk Factorsmental disordersInterview PsychologicalDevelopmental and Educational PsychologymedicineAttachment theoryHumansAllelePsychiatryGeneSerotonin transporterRetrospective StudiesGeneticsSerotonin Plasma Membrane Transport ProteinsPolymorphism GeneticbiologyReceptors Dopamine D4Middle AgedObject AttachmentPsychiatry and Mental healthCross-Sectional StudiesPhenotypebiology.proteinFemalePsychologyAttachment measuresmedicine.drugAttachmenthuman development
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Insulin-like growth factor 1 and sodium-lithium countertransport in essential hypertension and in hypertensive left ventricular hypertrophy

1993

The aim of this work was to study the insulin-like growth factor 1 (IGF1), a substance able to promote cell proliferation in vascular smooth muscle, in patients with mild-to-moderate hypertension and to analyse its relationship to sodium-lithium countertransport, a genetic marker of hypertension that is related to cardiovascular complications.We studied 32 hypertensive subjects, some with left ventricular hypertrophy, and 14 healthy subjects. Fasting plasma IGF1 was measured by means of a radioimmunoassay after octadecylsilica chromatography and Na(+)-Li+ countertransport was determined by the method of Canessa.Hypertensive patients had higher values of both IGF1 and Na(+)-Li+ countertransp…

AdultMalemedicine.medical_specialtyErythrocytesVascular smooth muscleLithium (medication)Heart diseasePhysiologymedicine.medical_treatmentEssential hypertensionLeft ventricular hypertrophyAntiportersMuscle hypertrophyInsulin-like growth factorReference ValuesInternal medicineInternal MedicineHumansMedicineInsulin-Like Growth Factor Ibusiness.industryGrowth factorMiddle Agedmedicine.diseaseEndocrinologyHypertensionFemaleHypertrophy Left VentricularCardiology and Cardiovascular Medicinebusinessmedicine.drug
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Norepinephrine transporter gene polymorphism is not associated with susceptibility to alcohol dependence

2002

Abnormalities in monoamine neurotransmission have been implicated in the pathogenesis of alcoholism, mood disorders and schizophrenia. Murine norepinephrine transporter gene (NET) has been mapped to a region on chromosome 8 where a quantitative trait locus for ethanol sensitivity. Therefore we tested whether norepinephrine transporter (NET) gene variants confer susceptibility to either alcohol dependence or severe alcohol withdrawal symptoms. There is a highly polymorphic silent G1287A mutation in the NET gene. In our study 157 alcoholics and 185 healthy unrelated matched control subjects were analyzed for a silent G1287A mutation. No significant differences in allele and genotype distribut…

AdultMalemedicine.medical_specialtyGenotypeDNA Mutational AnalysisMolecular Sequence DataAlcohol Withdrawal DeliriumGene FrequencyPolymorphism (computer science)Internal medicineGenotypemedicineHumansGenetic Predisposition to DiseaseRNA MessengerAlleleAllelesBiological PsychiatryGeneticsNorepinephrine Plasma Membrane Transport ProteinsPolymorphism GeneticSymportersbiologybusiness.industryAlcohol dependenceExonsMiddle Agedmedicine.diseaseAlcoholismPsychiatry and Mental healthMonoamine neurotransmitterEndocrinologyMood disordersNorepinephrine transporterbiology.proteinFemaleGene polymorphismbusinessPolymorphism Restriction Fragment LengthPsychiatry Research
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Evidence for the importance of the human dopamine transporter gene for withdrawal symptomatology of alcoholics in a German population

2002

Two new polymorphisms in the 3' untranslated region (3'UTR) of the dopamine transporter (DAT1) gene, adjacent to the known variable number of tandem repeats (VNTR) polymorphism, have been investigated in the present population-based association study including 351 alcoholics and 336 controls. The DraI restriction site was not polymorphic in our population. The G2319A polymorphism was not significantly different with respect to genotype or allele distribution between alcoholics and controls. Subsequently, in individuals with VNTR homozygosity for the ten repeat allele, we found a higher prevalence of A/A homozygosity in patients with seizure history (P = 0.001, odds ratio (OR) = 7.913), with…

AdultMalemedicine.medical_specialtyGenotypeMolecular Sequence DataPopulationNerve Tissue ProteinsGene FrequencyPolymorphism (computer science)GermanyInternal medicineGenotypeOdds RatiomedicineHumansAlleleeducationDopamine transporterGeneticsDopamine Plasma Membrane Transport Proteinseducation.field_of_studyChi-Square DistributionMembrane GlycoproteinsPolymorphism GeneticbiologyGeneral NeuroscienceMembrane Transport ProteinsOdds ratioMiddle AgedSubstance Withdrawal SyndromeAlcoholismRestriction siteVariable number tandem repeatEndocrinologybiology.proteinFemaleNeuroscience Letters
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Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders

2004

Mutations in ABCA1 have been shown to be the cause of Tangier disease (TD) and some forms of familial hypoalphalipoproteinemia (HA), two genetic disorders characterized by low plasma HDL levels. Here we report six subjects with low HDL, carrying seven ABCA1 mutations, six of which are previously unreported. Two mutations (R557X and H160FsX173) were predicted to generate short truncated proteins; two mutations (E284K and Y482C) were located in the first extracellular loop and two (R1901S and Q2196H) in the C-terminal cytoplasmic domain of ABCA1. Two subjects found to be compound heterozygotes for ABCA1 mutations did not have overt clinical manifestations of TD. Three subjects, all with prema…

AdultMalemedicine.medical_specialtyHeterozygoteSettore MED/09 - Medicina InternaApolipoprotein BAdolescentPremature coronary artery diseaseTangier diseaseCoronary DiseaseBiologyGene mutationmedicine.disease_causeCompound heterozygosityTangier diseaseInternal medicineGenotypeABCA1 genemedicineHumansChildHypoalphalipoproteinemiaSelection BiasAgedApolipoproteins BGeneticsMutationFamilial defective Apo B (FDB)Apolipoprotein A-ICholesterol HDLnutritional and metabolic diseasesMiddle Agedmedicine.diseaseLipoprotein lipaseTangier disease; Familial HDL deficiency; ABCA1 gene; Familial defective Apo B (FDB); Lipoprotein lipase; Premature coronary artery diseaseEndocrinologyChild PreschoolMutationbiology.proteinlipids (amino acids peptides and proteins)Allelic heterogeneityATP-Binding Cassette TransportersFemaleCardiology and Cardiovascular MedicineFamilial HDL deficiencyATP Binding Cassette Transporter 1
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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
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Analysis of thiamine transporter genes in sporadic beriberi

2014

Abstract Objective Thiamine or vitamin B 1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3 , and SLC25 A19 , in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency. Methods A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B 1 serum levels, his clinical picture was rapidly reverted by high-dose in…

AdultMalemedicine.medical_specialtySLC19 A- SLC25 A19SLC19 AEndocrinology Diabetes and MetabolismGene mutationBeriberimedicine.disease_causeMitochondrial Membrane Transport Proteinslaw.inventionBeriberilawInternal medicineGenotypemedicineThiamine transporterObjective: Thiamine or vitamin B1 deficiency diminishes thiamine-dependent enzymatic activity alters mitochondrial function impairs oxidative metabolism and causes selective neuronal death. We analyzed for the first time the role of all known mutations within three specific thiamine carrier genes SLC19 A2 SLC19 A3 and SLC25 A19 in a patient with atrophic beriberi a multiorgan nutritional disease caused by thiamine deficiency. Methods: A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema a subacute sensorimotor neuropathy and incontinence. Despite normal vitamin B1 serum levels his clinical picture was rapidly reverted by high-dose intramuscular thiamine treatment suggesting a possible genetic resistance. We used polymerase chain reaction followed by amplicon sequencing to study all the known thiamine-related gene mutations identified within the Human Gene Mutation Database. Results: Thirty-seven mutations were tested: 29 in SLC19 A2 6 in SLC19 A3 and 2 in SLC25 A19. Mutational analyses showed a wild-type genotype for all sequences investigated. Conclusion: This is the first genetic study in beriberi disease. We did not detect any known mutation in any of the three genes in a sporadic dry beriberi patient. We cannot exclude a role for other known or unknown mutations in the same genes or in other thiamine-associated genes in the occurrence of this nutritional neuropathy.HumansThiamineGenePolymerase chain reactionGeneticsMutationNutrition and DieteticsbiologyMembrane Transport ProteinsThiamine Deficiencymedicine.diseaseAlcoholismEndocrinologyMutationbiology.proteinThiamineMutations
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