ABCG2 p.Gln141Lys

ClinVar: c.421C>A , p.Gln141Lys ? , association
Predicted by SNAP2: A: D (63%), C: D (75%), D: D (80%), E: D (59%), F: D (75%), G: D (80%), H: D (59%), I: D (66%), K: D (80%), L: D (66%), M: D (63%), N: D (66%), P: D (85%), R: D (66%), S: D (63%), T: D (63%), V: D (63%), W: D (71%), Y: D (66%),
Predicted by PROVEAN: A: D, C: D, D: N, E: N, F: D, G: D, H: N, I: D, K: N, L: D, M: D, N: N, P: D, R: N, S: N, T: D, V: D, W: D, Y: D,

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[hide] Imai Y, Nakane M, Kage K, Tsukahara S, Ishikawa E, Tsuruo T, Miki Y, Sugimoto Y
C421A polymorphism in the human breast cancer resistance protein gene is associated with low expression of Q141K protein and low-level drug resistance.
Mol Cancer Ther. 2002 Jun;1(8):611-6., [PMID:12479221] [PubMed]

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[hide] Zamber CP, Lamba JK, Yasuda K, Farnum J, Thummel K, Schuetz JD, Schuetz EG
Natural allelic variants of breast cancer resistance protein (BCRP) and their relationship to BCRP expression in human intestine.
Pharmacogenetics. 2003 Jan;13(1):19-28., [PMID:12544509] [PubMed]

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[hide] Honjo Y, Morisaki K, Huff LM, Robey RW, Hung J, Dean M, Bates SE
Single-nucleotide polymorphism (SNP) analysis in the ABC half-transporter ABCG2 (MXR/BCRP/ABCP1).
Cancer Biol Ther. 2002 Nov-Dec;1(6):696-702., [PMID:12642696] [PubMed]

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[hide] Backstrom G, Taipalensuu J, Melhus H, Brandstrom H, Svensson AC, Artursson P, Kindmark A
Genetic variation in the ATP-binding cassette transporter gene ABCG2 (BCRP) in a Swedish population.
Eur J Pharm Sci. 2003 Apr;18(5):359-64., [PMID:12694888] [PubMed]

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[hide] Doyle LA, Ross DD
Multidrug resistance mediated by the breast cancer resistance protein BCRP (ABCG2).
Oncogene. 2003 Oct 20;22(47):7340-58., 2003-10-20 [PMID:14576842] [PubMed]

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[hide] Mizuarai S, Aozasa N, Kotani H
Single nucleotide polymorphisms result in impaired membrane localization and reduced atpase activity in multidrug transporter ABCG2.
Int J Cancer. 2004 Mar 20;109(2):238-46., 2004-03-20 [PMID:14750175] [PubMed]

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[hide] Han B, Zhang JT
Multidrug resistance in cancer chemotherapy and xenobiotic protection mediated by the half ATP-binding cassette transporter ABCG2.
Curr Med Chem Anticancer Agents. 2004 Jan;4(1):31-42., [PMID:14754410] [PubMed]

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[hide] Begley DJ
ABC transporters and the blood-brain barrier.
Curr Pharm Des. 2004;10(12):1295-312., [PMID:15134482] [PubMed]

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[hide] Sarkadi B, Ozvegy-Laczka C, Nemet K, Varadi A
ABCG2 -- a transporter for all seasons.
FEBS Lett. 2004 Jun 1;567(1):116-20., 2004-06-01 [PMID:15165903] [PubMed]

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[hide] Yoshikawa M, Ikegami Y, Hayasaka S, Ishii K, Ito A, Sano K, Suzuki T, Togawa T, Yoshida H, Soda H, Oka M, Kohno S, Sawada S, Ishikawa T, Tanabe S
Novel camptothecin analogues that circumvent ABCG2-associated drug resistance in human tumor cells.
Int J Cancer. 2004 Jul 20;110(6):921-7., 2004-07-20 [PMID:15170677] [PubMed]

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[hide] Sparreboom A, Gelderblom H, Marsh S, Ahluwalia R, Obach R, Principe P, Twelves C, Verweij J, McLeod HL
Diflomotecan pharmacokinetics in relation to ABCG2 421C>A genotype.
Clin Pharmacol Ther. 2004 Jul;76(1):38-44., [PMID:15229462] [PubMed]

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[hide] de Jong FA, Marsh S, Mathijssen RH, King C, Verweij J, Sparreboom A, McLeod HL
ABCG2 pharmacogenetics: ethnic differences in allele frequency and assessment of influence on irinotecan disposition.
Clin Cancer Res. 2004 Sep 1;10(17):5889-94., 2004-09-01 [PMID:15355921] [PubMed]

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[hide] Kobayashi D, Ieiri I, Hirota T, Takane H, Maegawa S, Kigawa J, Suzuki H, Nanba E, Oshimura M, Terakawa N, Otsubo K, Mine K, Sugiyama Y
Functional assessment of ABCG2 (BCRP) gene polymorphisms to protein expression in human placenta.
Drug Metab Dispos. 2005 Jan;33(1):94-101. Epub 2004 Oct 8., [PMID:15475413] [PubMed]

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[hide] Kondo C, Suzuki H, Itoda M, Ozawa S, Sawada J, Kobayashi D, Ieiri I, Mine K, Ohtsubo K, Sugiyama Y
Functional analysis of SNPs variants of BCRP/ABCG2.
Pharm Res. 2004 Oct;21(10):1895-903., [PMID:15553238] [PubMed]

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[hide] Wang H, Hao B, Zhou K, Chen X, Wu S, Zhou G, Zhu Y, He F
Linkage disequilibrium and haplotype architecture for two ABC transporter genes (ABCC1 and ABCG2) in Chinese population: implications for pharmacogenomic association studies.
Ann Hum Genet. 2004 Nov;68(Pt 6):563-73., [PMID:15598215] [PubMed]

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[hide] Itoda M, Saito Y, Shirao K, Minami H, Ohtsu A, Yoshida T, Saijo N, Suzuki H, Sugiyama Y, Ozawa S, Sawada J
Eight novel single nucleotide polymorphisms in ABCG2/BCRP in Japanese cancer patients administered irinotacan.
Drug Metab Pharmacokinet. 2003;18(3):212-7., [PMID:15618737] [PubMed]

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[hide] Robey RW, Steadman K, Polgar O, Bates SE
ABCG2-mediated transport of photosensitizers: potential impact on photodynamic therapy.
Cancer Biol Ther. 2005 Feb;4(2):187-94. Epub 2005 Feb 8., [PMID:15684613] [PubMed]

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[hide] Vethanayagam RR, Wang H, Gupta A, Zhang Y, Lewis F, Unadkat JD, Mao Q
Functional analysis of the human variants of breast cancer resistance protein: I206L, N590Y, and D620N.
Drug Metab Dispos. 2005 Jun;33(6):697-705. Epub 2005 Mar 2., [PMID:15743976] [PubMed]

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[hide] Elkind NB, Szentpetery Z, Apati A, Ozvegy-Laczka C, Varady G, Ujhelly O, Szabo K, Homolya L, Varadi A, Buday L, Keri G, Nemet K, Sarkadi B
Multidrug transporter ABCG2 prevents tumor cell death induced by the epidermal growth factor receptor inhibitor Iressa (ZD1839, Gefitinib).
Cancer Res. 2005 Mar 1;65(5):1770-7., 2005-03-01 [PMID:15753373] [PubMed]

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[hide] Zhou Q, Sparreboom A, Tan EH, Cheung YB, Lee A, Poon D, Lee EJ, Chowbay B
Pharmacogenetic profiling across the irinotecan pathway in Asian patients with cancer.
Br J Clin Pharmacol. 2005 Apr;59(4):415-24., [PMID:15801936] [PubMed]

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[hide] Morisaki K, Robey RW, Ozvegy-Laczka C, Honjo Y, Polgar O, Steadman K, Sarkadi B, Bates SE
Single nucleotide polymorphisms modify the transporter activity of ABCG2.
Cancer Chemother Pharmacol. 2005 Aug;56(2):161-72. Epub 2005 Apr 19., [PMID:15838659] [PubMed]

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[hide] Lepper ER, Nooter K, Verweij J, Acharya MR, Figg WD, Sparreboom A
Mechanisms of resistance to anticancer drugs: the role of the polymorphic ABC transporters ABCB1 and ABCG2.
Pharmacogenomics. 2005 Mar;6(2):115-38., [PMID:15882131] [PubMed]

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[hide] Korenaga Y, Naito K, Okayama N, Hirata H, Suehiro Y, Hamanaka Y, Matsuyama H, Hinoda Y
Association of the BCRP C421A polymorphism with nonpapillary renal cell carcinoma.
Int J Cancer. 2005 Nov 10;117(3):431-4., 2005-11-10 [PMID:15906349] [PubMed]

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[hide] Sparreboom A, Loos WJ, Burger H, Sissung TM, Verweij J, Figg WD, Nooter K, Gelderblom H
Effect of ABCG2 genotype on the oral bioavailability of topotecan.
Cancer Biol Ther. 2005 Jun;4(6):650-8. Epub 2005 Jun 11., [PMID:15908806] [PubMed]

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[hide] Ozvegy-Laczka C, Cserepes J, Elkind NB, Sarkadi B
Tyrosine kinase inhibitor resistance in cancer: role of ABC multidrug transporters.
Drug Resist Updat. 2005 Feb-Apr;8(1-2):15-26., [PMID:15939339] [PubMed]

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[hide] Hirano M, Maeda K, Matsushima S, Nozaki Y, Kusuhara H, Sugiyama Y
Involvement of BCRP (ABCG2) in the biliary excretion of pitavastatin.
Mol Pharmacol. 2005 Sep;68(3):800-7. Epub 2005 Jun 13., [PMID:15955871] [PubMed]

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[hide] Huss WJ, Gray DR, Greenberg NM, Mohler JL, Smith GJ
Breast cancer resistance protein-mediated efflux of androgen in putative benign and malignant prostate stem cells.
Cancer Res. 2005 Aug 1;65(15):6640-50., 2005-08-01 [PMID:16061644] [PubMed]

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[hide] Sugimoto Y, Tsukahara S, Ishikawa E, Mitsuhashi J
Breast cancer resistance protein: molecular target for anticancer drug resistance and pharmacokinetics/pharmacodynamics.
Cancer Sci. 2005 Aug;96(8):457-65., [PMID:16108826] [PubMed]

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[hide] Meissner K, Heydrich B, Jedlitschky G, Meyer Zu Schwabedissen H, Mosyagin I, Dazert P, Eckel L, Vogelgesang S, Warzok RW, Bohm M, Lehmann C, Wendt M, Cascorbi I, Kroemer HK
The ATP-binding cassette transporter ABCG2 (BCRP), a marker for side population stem cells, is expressed in human heart.
J Histochem Cytochem. 2006 Feb;54(2):215-21. Epub 2005 Aug 22., [PMID:16116030] [PubMed]

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[hide] Mao Q, Unadkat JD
Role of the breast cancer resistance protein (ABCG2) in drug transport.
AAPS J. 2005 May 11;7(1):E118-33., [PMID:16146333] [PubMed]

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[hide] Krishnamurthy P, Schuetz JD
The ABC transporter Abcg2/Bcrp: role in hypoxia mediated survival.
Biometals. 2005 Aug;18(4):349-58., [PMID:16158227] [PubMed]

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[hide] Ishikawa T, Tamura A, Saito H, Wakabayashi K, Nakagawa H
Pharmacogenomics of the human ABC transporter ABCG2: from functional evaluation to drug molecular design.
Naturwissenschaften. 2005 Oct;92(10):451-63., [PMID:16160819] [PubMed]

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[hide] Huang Y, Sadee W
Membrane transporters and channels in chemoresistance and -sensitivity of tumor cells.
Cancer Lett. 2006 Aug 8;239(2):168-82. Epub 2005 Oct 5., 2006-08-08 [PMID:16169662] [PubMed]

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[hide] Sakurai A, Tamura A, Onishi Y, Ishikawa T
Genetic polymorphisms of ATP-binding cassette transporters ABCB1 and ABCG2: therapeutic implications.
Expert Opin Pharmacother. 2005 Nov;6(14):2455-73., [PMID:16259577] [PubMed]

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[hide] Smith NF, Figg WD, Sparreboom A
Pharmacogenetics of irinotecan metabolism and transport: an update.
Toxicol In Vitro. 2006 Mar;20(2):163-75. Epub 2005 Nov 3., [PMID:16271446] [PubMed]

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[hide] Yanase K, Tsukahara S, Mitsuhashi J, Sugimoto Y
Functional SNPs of the breast cancer resistance protein-therapeutic effects and inhibitor development.
Cancer Lett. 2006 Mar 8;234(1):73-80. Epub 2005 Nov 21., 2006-03-08 [PMID:16303243] [PubMed]

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[hide] Nakagawa H, Saito H, Ikegami Y, Aida-Hyugaji S, Sawada S, Ishikawa T
Molecular modeling of new camptothecin analogues to circumvent ABCG2-mediated drug resistance in cancer.
Cancer Lett. 2006 Mar 8;234(1):81-9. Epub 2005 Nov 23., 2006-03-08 [PMID:16309825] [PubMed]

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[hide] Cervenak J, Andrikovics H, Ozvegy-Laczka C, Tordai A, Nemet K, Varadi A, Sarkadi B
The role of the human ABCG2 multidrug transporter and its variants in cancer therapy and toxicology.
Cancer Lett. 2006 Mar 8;234(1):62-72. Epub 2005 Dec 7., 2006-03-08 [PMID:16337740] [PubMed]

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[hide] de Jong FA, de Jonge MJ, Verweij J, Mathijssen RH
Role of pharmacogenetics in irinotecan therapy.
Cancer Lett. 2006 Mar 8;234(1):90-106. Epub 2005 Dec 15., 2006-03-08 [PMID:16343744] [PubMed]

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[hide] Ishikawa T, Sakurai A, Kanamori Y, Nagakura M, Hirano H, Takarada Y, Yamada K, Fukushima K, Kitajima M
High-speed screening of human ATP-binding cassette transporter function and genetic polymorphisms: new strategies in pharmacogenomics.
Methods Enzymol. 2005;400:485-510., [PMID:16399366] [PubMed]

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[hide] Krishnamurthy P, Schuetz JD
Role of ABCG2/BCRP in biology and medicine.
Annu Rev Pharmacol Toxicol. 2006;46:381-410., [PMID:16402910] [PubMed]

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[hide] Tian Q, Zhang J, Chan SY, Tan TM, Duan W, Huang M, Zhu YZ, Chan E, Yu Q, Nie YQ, Ho PC, Li Q, Ng KY, Yang HY, Wei H, Bian JS, Zhou SF
Topotecan is a substrate for multidrug resistance associated protein 4.
Curr Drug Metab. 2006 Jan;7(1):105-18., [PMID:16454695] [PubMed]

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[hide] Ahmed-Belkacem A, Pozza A, Macalou S, Perez-Victoria JM, Boumendjel A, Di Pietro A
Inhibitors of cancer cell multidrug resistance mediated by breast cancer resistance protein (BCRP/ABCG2).
Anticancer Drugs. 2006 Mar;17(3):239-43., [PMID:16520651] [PubMed]

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[hide] Tamura A, Watanabe M, Saito H, Nakagawa H, Kamachi T, Okura I, Ishikawa T
Functional validation of the genetic polymorphisms of human ATP-binding cassette (ABC) transporter ABCG2: identification of alleles that are defective in porphyrin transport.
Mol Pharmacol. 2006 Jul;70(1):287-96. Epub 2006 Apr 11., [PMID:16608919] [PubMed]

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[hide] Maekawa K, Itoda M, Sai K, Saito Y, Kaniwa N, Shirao K, Hamaguchi T, Kunitoh H, Yamamoto N, Tamura T, Minami H, Kubota K, Ohtsu A, Yoshida T, Saijo N, Kamatani N, Ozawa S, Sawada J
Genetic variation and haplotype structure of the ABC transporter gene ABCG2 in a Japanese population.
Drug Metab Pharmacokinet. 2006 Apr;21(2):109-21., [PMID:16702730] [PubMed]

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[hide] Cascorbi I
Role of pharmacogenetics of ATP-binding cassette transporters in the pharmacokinetics of drugs.
Pharmacol Ther. 2006 Nov;112(2):457-73., [PMID:16766035] [PubMed]

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[hide] Zhang W, Yu BN, He YJ, Fan L, Li Q, Liu ZQ, Wang A, Liu YL, Tan ZR, Fen-Jiang, Huang YF, Zhou HH
Role of BCRP 421C>A polymorphism on rosuvastatin pharmacokinetics in healthy Chinese males.
Clin Chim Acta. 2006 Nov;373(1-2):99-103. Epub 2006 May 13., [PMID:16784736] [PubMed]

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[hide] Robey RW, Fetsch PA, Polgar O, Dean M, Bates SE
The livestock photosensitizer, phytoporphyrin (phylloerythrin), is a substrate of the ATP-binding cassette transporter ABCG2.
Res Vet Sci. 2006 Dec;81(3):345-9. Epub 2006 Jun 30., [PMID:16808938] [PubMed]

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[hide] Perez-Tomas R
Multidrug resistance: retrospect and prospects in anti-cancer drug treatment.
Curr Med Chem. 2006;13(16):1859-76., [PMID:16842198] [PubMed]

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[hide] Xia CQ, Yang JJ, Gan LS
Breast cancer resistance protein in pharmacokinetics and drug-drug interactions.
Expert Opin Drug Metab Toxicol. 2005 Dec;1(4):595-611., [PMID:16863427] [PubMed]

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[hide] Wakabayashi K, Tamura A, Saito H, Onishi Y, Ishikawa T
Human ABC transporter ABCG2 in xenobiotic protection and redox biology.
Drug Metab Rev. 2006;38(3):371-91., [PMID:16877258] [PubMed]

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[hide] Gardner ER, Burger H, van Schaik RH, van Oosterom AT, de Bruijn EA, Guetens G, Prenen H, de Jong FA, Baker SD, Bates SE, Figg WD, Verweij J, Sparreboom A, Nooter K
Association of enzyme and transporter genotypes with the pharmacokinetics of imatinib.
Clin Pharmacol Ther. 2006 Aug;80(2):192-201., [PMID:16890580] [PubMed]

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[hide] Scherrmann JM
Expression and function of multidrug resistance transporters at the blood-brain barriers.
Expert Opin Drug Metab Toxicol. 2005 Aug;1(2):233-46., [PMID:16922639] [PubMed]

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[hide] Sarkadi B, Homolya L, Szakacs G, Varadi A
Human multidrug resistance ABCB and ABCG transporters: participation in a chemoimmunity defense system.
Physiol Rev. 2006 Oct;86(4):1179-236., [PMID:17015488] [PubMed]

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[hide] Li YF, Polgar O, Okada M, Esser L, Bates SE, Xia D
Towards understanding the mechanism of action of the multidrug resistance-linked half-ABC transporter ABCG2: a molecular modeling study.
J Mol Graph Model. 2007 Mar;25(6):837-51. Epub 2006 Aug 30., [PMID:17027309] [PubMed]

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[hide] Hahn NM, Marsh S, Fisher W, Langdon R, Zon R, Browning M, Johnson CS, Scott-Horton TJ, Li L, McLeod HL, Sweeney CJ
Hoosier Oncology Group randomized phase II study of docetaxel, vinorelbine, and estramustine in combination in hormone-refractory prostate cancer with pharmacogenetic survival analysis.
Clin Cancer Res. 2006 Oct 15;12(20 Pt 1):6094-9., 2006-10-15 [PMID:17062685] [PubMed]

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[hide] Enokizono J, Kusuhara H, Sugiyama Y
Involvement of breast cancer resistance protein (BCRP/ABCG2) in the biliary excretion and intestinal efflux of troglitazone sulfate, the major metabolite of troglitazone with a cholestatic effect.
Drug Metab Dispos. 2007 Feb;35(2):209-14. Epub 2006 Nov 8., [PMID:17093005] [PubMed]

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