2014
Human Hepatic UGT2B15 Developmental Expression
Divakaran K, Hines R, McCarver D. Human Hepatic UGT2B15 Developmental Expression. Toxicological Sciences 2014, 141: 292-299. PMID: 24980262, PMCID: PMC4271124, DOI: 10.1093/toxsci/kfu126.Peer-Reviewed Original ResearchConceptsUGT2B15 expressionAge groupsHuman hepatic microsomesLate fetal lifeFunctional single nucleotide polymorphismsFetal contentMale genderFetal lifeLate gestationPostnatal samplesLower clearanceOlder individualsWeeks ageHepatic microsomesProtein expressionSingle nucleotide polymorphismsLatter groupImportant drugsMature valuesBisphenol ADevelopmental expressionExpression changesNucleotide polymorphismsGreater rateGroup
2013
Toll-like receptor genetic variants are associated with Gram-negative infections in VLBW infants
Sampath V, Mulrooney N, Garland J, He J, Patel A, Cohen J, Simpson P, Hines R. Toll-like receptor genetic variants are associated with Gram-negative infections in VLBW infants. Journal Of Perinatology 2013, 33: 772-777. PMID: 23867959, PMCID: PMC4465440, DOI: 10.1038/jp.2013.80.Peer-Reviewed Original ResearchMeSH KeywordsBlack or African AmericanFemaleGenetic Predisposition to DiseaseGenetic VariationGram-Negative Bacterial InfectionsHumansImmunity, InnateInfant, NewbornInfant, PrematureInfant, Premature, DiseasesInfant, Very Low Birth WeightInterleukin-1 Receptor-Associated KinasesLeukocyte CountLogistic ModelsMalePolymorphism, Single NucleotideRisk FactorsToll-Like Receptor 4Toll-Like Receptor 5Toll-Like ReceptorsWhite PeopleConceptsWhite blood cellsToll-like receptorsGram-negative infectionsVLBW infantsBacterial infectionsSingle nucleotide polymorphismsLow birth weight infantsTLR single nucleotide polymorphismsBirth weight infantsElevated WBC countGenetic variantsWeight infantsMulticenter studyTLR4 variantsWBC countFemale infantImmune responseInfantsInfection rateInfectionAlters susceptibilityBlood cellsRegression modelsConfoundersCohort
2012
A TIR domain receptor–associated protein (TIRAP) variant SNP (rs8177374) confers protection against premature birth
Karody V, Le M, Nelson S, Meskin K, Klemm S, Simpson P, Hines R, Sampath V. A TIR domain receptor–associated protein (TIRAP) variant SNP (rs8177374) confers protection against premature birth. Journal Of Perinatology 2012, 33: 341-346. PMID: 23047423, DOI: 10.1038/jp.2012.120.Peer-Reviewed Original ResearchConceptsToll-like receptorsPreterm infantsTerm infantsSingle nucleotide polymorphismsExact testProspective case-control studyTLR single nucleotide polymorphismsPregnancy-induced hypertensionRisk of PTBNuclear factor kappa B1Case-control studyFischer's exact testChi-square testIRAK1 variantsMultiplexed single-base extension assayPlacental abruptionPremature birthNeonatal bloodVariant single nucleotide polymorphismsInfantsCaucasian infantsWeeksModulate susceptibilityAfrican AmericansBirth
2011
The NFKB1 (g.-24519delATTG) Variant is Associated with Necrotizing Enterocolitis (NEC) in Premature Infants
Sampath V, Le M, Lane L, Patel A, Cohen J, Simpson P, Garland J, Hines R. The NFKB1 (g.-24519delATTG) Variant is Associated with Necrotizing Enterocolitis (NEC) in Premature Infants. Journal Of Surgical Research 2011, 169: e51-e57. PMID: 21529841, DOI: 10.1016/j.jss.2011.03.017.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesCohort StudiesEnterocolitis, NecrotizingFemaleGenetic Predisposition to DiseaseHumansIncidenceInfant, NewbornInfant, PrematureInfant, Very Low Birth WeightMaleNF-kappa B p50 SubunitPilot ProjectsPolymorphism, Single NucleotideProspective StudiesRetrospective StudiesSignal TransductionToll-Like ReceptorsConceptsNecrotizing enterocolitisImmune responseBlood samplesSingle nucleotide polymorphismsExact testToll-like receptor pathway genesLow birth weight infantsNFKB1 variantsBirth weight infantsIntestinal immune responseTLR pathway genesFisher's exact testInnate immune responseEnterocolitis (NEC) pathogenesisNEC pathogenesisNEC susceptibilityVLBW infantsWeight infantsCohort studyPreterm infantsPremature infantsTIRAP geneClinical informationGene-environment interactionsInfants
2007
Novel Hispanic American CYP2C9 Genetic Variants and Assessment of Their Impact on Gene Expression
Kramer M, Rettie A, Rieder M, Hines R. Novel Hispanic American CYP2C9 Genetic Variants and Assessment of Their Impact on Gene Expression. The FASEB Journal 2007, 21: a415-a415. DOI: 10.1096/fasebj.21.5.a415.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsPromoter activityGenetic variantsSite-directed mutagenesisConstitutive promoter activityInducible promoter activityDNA samplesMultiplex single-base extensionInduced promoter activityLuciferase reporter plasmidRegulatory sequencesTransient expressionRegulatory polymorphismsGene expressionSNP frequenciesFrequency of variantsReporter plasmidDNA sequencingSingle base extensionHaplotype variantsNucleotide polymorphismsReference haplotypesHepG2 cellsDiscovery resourcesDifferent populations
2005
Discovery of Novel Flavin-Containing Monooxygenase 3 (FMO3) Single Nucleotide Polymorphisms and Functional Analysis of Upstream Haplotype Variants
Koukouritaki S, Poch M, Cabacungan E, McCarver D, Hines R. Discovery of Novel Flavin-Containing Monooxygenase 3 (FMO3) Single Nucleotide Polymorphisms and Functional Analysis of Upstream Haplotype Variants. Molecular Pharmacology 2005, 68: 383-392. PMID: 15858076, DOI: 10.1124/mol.105.012062.Peer-Reviewed Original ResearchConceptsFlavin-containing monooxygenasesFunctional analysisSingle nucleotide polymorphism (SNP) discoveryMembrane interaction domainHaplotype variantsSite-directed mutagenesisConsensus splice sitesFMO3 expressionUpstream SNPsGene functionPolymorphism discoveryNear complete lossRossmann foldFAD bindingInteraction domainSingle nucleotide polymorphismsRegion haplotypesHaplotype 8Exon SNPsFMO enzymesPromoter activityIntron SNPSequence analysisSNP frequenciesLuciferase constructHaplotype and functional analysis of four flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics
Krueger S, Siddens L, Henderson M, Andreasen E, Tanguay R, Pereira C, Cabacungan E, Hines R, Ardlie K, Williams D. Haplotype and functional analysis of four flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics. Pharmacogenetics And Genomics 2005, 15: 245-256. PMID: 15864117, PMCID: PMC1351039, DOI: 10.1097/01213011-200504000-00008.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAntithyroid AgentsDNA PrimersDNA, ComplementaryEthylenethioureaGenetic VectorsGenotypeHaplotypesHispanic or LatinoHomozygoteHumansMethimazoleMutagenesis, Site-DirectedMutationOxygenasesPharmacogeneticsPolymerase Chain ReactionPolymorphism, GeneticPolymorphism, Single NucleotidePolymorphism, Single-Stranded ConformationalTemperatureConceptsSingle nucleotide polymorphismsInactive proteinProtein variantsSingle-strand conformation polymorphismFunctional analysisActive proteinStrand conformation polymorphismNucleotide polymorphismsFunctional impactProteinAllelesHaplotype determinationConformation polymorphismMajor alleleHaplotypesPolymorphismFMO2Minor alleleFlavinVariants
2003
Genetic Variability at the Human FMO1 Locus: Significance of a Basal Promoter Yin Yang 1 Element Polymorphism (FMO1*6)
Hines R, Luo Z, Hopp K, Cabacungan E, Koukouritaki S, McCarver D. Genetic Variability at the Human FMO1 Locus: Significance of a Basal Promoter Yin Yang 1 Element Polymorphism (FMO1*6). Journal Of Pharmacology And Experimental Therapeutics 2003, 306: 1210-1218. PMID: 12829732, DOI: 10.1124/jpet.103.053686.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsFlavin-containing monooxygenasesGenetic variabilityIntron 1 splice donor siteElectrophoretic mobility shift assaysYin Yang 1 (YY1) transcription factorTransient expression assaysCore binding sequenceATG start codonMobility shift assaysSplice donor siteCommon single nucleotide polymorphismsYY1 bindingStructural geneTranscription factorsStart codonShift assaysExonic sequencesChromosome 1q23Binding sequenceExpression assaysPromoter activityVariety of toxicantsBase pairsNucleotide polymorphisms