0000000000293707

AUTHOR

Reinhold Kerb

showing 2 related works from this author

Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells

2012

The multidrug resistance-associated protein 2 (MRP2/ABCC2) is involved in the efflux of endogenous and xenobiotic substrates, including several anticancer and antiviral drugs. The functional consequences of ABCC2 protein variants remain inconsistent, which may be due to shortcomings of the in vitro assays used. To study systematically the functional consequences of nonsynonymous ABCC2 variants, we used a novel “Screen and Insert” (ScIn) technology to achieve stable and highly reproducible expression of 13 ABCC2 variants in HT1080 cells. Western blotting revealed lower (30–65%) ABCC2 expression for D333G, R1174H, and R1181L as compared with wild type (WT; 100%), whereas the linked variant V1…

Nonsynonymous substitutionFibrosarcomaMutation MissenseATP-binding cassette transporterBiologyCell Line TumorGeneticsHumansGenetics (clinical)GeneticsAsianMultidrug resistance-associated protein 2Endoplasmic reticulumChloraminesWild typeGenetic VariationTetracyclineMolecular biologyMultidrug Resistance-Associated Protein 2Recombinant ProteinsBlack or African AmericanBlotHEK293 CellsGene Expression RegulationHaplotypesHT1080EffluxMultidrug Resistance-Associated ProteinsHuman Mutation
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Variability in human hepatic MRP4 expression: influence of cholestasis and genotype

2007

The multidrug resistance protein 4 (MRP4) is an efflux transporter involved in the transport of endogenous substrates and xenobiotics. We measured MRP4 mRNA and protein expression in human livers and found a 38- and 45-fold variability, respectively. We sequenced 2 kb of the 5'-flanking region, all exons and intron/exon boundaries of the MRP4 gene in 95 patients and identified 74 genetic variants including 10 non-synonymous variations, seven of them being located in highly conserved regions. None of the detected polymorphisms was significantly associated with changes in the MRP4 mRNA or protein expression. Immunofluorescence microscopy indicated that none of the non-synonymous variations af…

AdultMaleGenotypeProtein ConformationBiologyPolymorphism Single NucleotideExonCholestasisTerminology as TopicGenotypeGenetic variationGeneticsmedicineHumansRNA MessengerGeneCellular localizationPharmacologyMessenger RNACholestasisPolymorphism GeneticReverse Transcriptase Polymerase Chain ReactionIntronGenetic VariationDNAmedicine.diseaseImmunohistochemistryMolecular biologyIntronsGene Expression RegulationHaplotypesLiverMicroscopy FluorescenceMolecular MedicineFemaleMultidrug Resistance-Associated ProteinsThe Pharmacogenomics Journal
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