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
2006
Identification and functional analysis of Human FMO3 Genetic Variants
Hines R, Koukouritaki S, Poch M, Henderson M, Siddens L, Krueger S, VanDyke J, Romero A, Williams D. Identification and functional analysis of Human FMO3 Genetic Variants. The FASEB Journal 2006, 20: a264-a264. DOI: 10.1096/fasebj.20.4.a264-a.Peer-Reviewed Original ResearchPromoter activityFunctional analysisTransient expression analysisHaplotype AComplete lossHigher promoter activityNear complete lossTranscript splicingExpression analysisSynonymous SNPsReporter constructsIntron SNPSNP frequenciesStructural variantsObserved haplotypesMultiple substratesHaplotype DGenetic variantsExpression levelsSNPsEnzyme activityDNA samplesHaplotypesPromoter variantsVivo impact
1998
A Genetic Polymorphism in the Regulatory Sequences of HumanCYP2E1:Association with Increased Chlorzoxazone Hydroxylation in the Presence of Obesity and Ethanol Intake
McCarver D, Byun R, Hines R, Hichme M, Wegenek W. A Genetic Polymorphism in the Regulatory Sequences of HumanCYP2E1:Association with Increased Chlorzoxazone Hydroxylation in the Presence of Obesity and Ethanol Intake. Toxicology And Applied Pharmacology 1998, 152: 276-281. PMID: 9772223, DOI: 10.1006/taap.1998.8532.Peer-Reviewed Original ResearchConceptsMetabolic abilitiesDNA samplesHuman DNA samplesDNA insertionRegulatory sequencesRegulatory regionsXbaI fragmentGenomic probesRegulatory polymorphismsRestriction enzyme XbaIRestriction enzyme digestionSame DNA samplesInsertion mutationsUpstream regionRestriction enzymesSouthern blotFunctional significanceSouthern blottingMutationsEnzyme XbaIEnzyme digestionGenetic polymorphismsVivo CYP2E1 activity