ABCG2 p.Gln126*

ClinVar: c.376C>T , p.Gln126* ? , association

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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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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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[hide] Huang Y
Pharmacogenetics/genomics of membrane transporters in cancer chemotherapy.
Cancer Metastasis Rev. 2007 Mar;26(1):183-201., [PMID:17323126] [PubMed]

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[hide] Kim HS, Sunwoo YE, Ryu JY, Kang HJ, Jung HE, Song IS, Kim EY, Shim JC, Shon JH, Shin JG
The effect of ABCG2 V12M, Q141K and Q126X, known functional variants in vitro, on the disposition of lamivudine.
Br J Clin Pharmacol. 2007 Nov;64(5):645-54. Epub 2007 May 17., [PMID:17509035] [PubMed]

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[hide] Sharom FJ
ABC multidrug transporters: structure, function and role in chemoresistance.
Pharmacogenomics. 2008 Jan;9(1):105-27., [PMID:18154452] [PubMed]

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[hide] Tamura A, Onishi Y, An R, Koshiba S, Wakabayashi K, Hoshijima K, Priebe W, Yoshida T, Kometani S, Matsubara T, Mikuriya K, Ishikawa T
In vitro evaluation of photosensitivity risk related to genetic polymorphisms of human ABC transporter ABCG2 and inhibition by drugs.
Drug Metab Pharmacokinet. 2007 Dec;22(6):428-40., [PMID:18159130] [PubMed]

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[hide] Nakagawa H, Tamura A, Wakabayashi K, Hoshijima K, Komada M, Yoshida T, Kometani S, Matsubara T, Mikuriya K, Ishikawa T
Ubiquitin-mediated proteasomal degradation of non-synonymous SNP variants of human ABC transporter ABCG2.
Biochem J. 2008 May 1;411(3):623-31., 2008-05-01 [PMID:18237272] [PubMed]

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[hide] Hazai E, Bikadi Z
Homology modeling of breast cancer resistance protein (ABCG2).
J Struct Biol. 2008 Apr;162(1):63-74. Epub 2007 Dec 15., [PMID:18249138] [PubMed]

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[hide] Tamura A, An R, Hagiya Y, Hoshijima K, Yoshida T, Mikuriya K, Ishikawa T
Drug-induced phototoxicity evoked by inhibition of human ABC transporter ABCG2: development of in vitro high-speed screening systems.
Expert Opin Drug Metab Toxicol. 2008 Mar;4(3):255-72., [PMID:18363541] [PubMed]

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[hide] Koshiba S, An R, Saito H, Wakabayashi K, Tamura A, Ishikawa T
Human ABC transporters ABCG2 (BCRP) and ABCG4.
Xenobiotica. 2008 Jul;38(7-8):863-88., [PMID:18668433] [PubMed]

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[hide] Furukawa T, Wakabayashi K, Tamura A, Nakagawa H, Morishima Y, Osawa Y, Ishikawa T
Major SNP (Q141K) variant of human ABC transporter ABCG2 undergoes lysosomal and proteasomal degradations.
Pharm Res. 2009 Feb;26(2):469-79. Epub 2008 Oct 29., [PMID:18958403] [PubMed]

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[hide] Noguchi K, Katayama K, Mitsuhashi J, Sugimoto Y
Functions of the breast cancer resistance protein (BCRP/ABCG2) in chemotherapy.
Adv Drug Deliv Rev. 2009 Jan 31;61(1):26-33. Epub 2008 Dec 3., 2009-01-31 [PMID:19111841] [PubMed]

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[hide] Wakabayashi-Nakao K, Tamura A, Furukawa T, Nakagawa H, Ishikawa T
Quality control of human ABCG2 protein in the endoplasmic reticulum: ubiquitination and proteasomal degradation.
Adv Drug Deliv Rev. 2009 Jan 31;61(1):66-72. Epub 2008 Dec 11., 2009-01-31 [PMID:19111842] [PubMed]

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[hide] Sai K, Saito Y, Maekawa K, Kim SR, Kaniwa N, Nishimaki-Mogami T, Sawada J, Shirao K, Hamaguchi T, Yamamoto N, Kunitoh H, Ohe Y, Yamada Y, Tamura T, Yoshida T, Matsumura Y, Ohtsu A, Saijo N, Minami H
Additive effects of drug transporter genetic polymorphisms on irinotecan pharmacokinetics/pharmacodynamics in Japanese cancer patients.
Cancer Chemother Pharmacol. 2010 May;66(1):95-105. Epub 2009 Sep 22., [PMID:19771428] [PubMed]

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[hide] Ishikawa T, Nakagawa H
Human ABC transporter ABCG2 in cancer chemotherapy and pharmacogenomics.
J Exp Ther Oncol. 2009;8(1):5-24., [PMID:19827267] [PubMed]

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[hide] Cascorbi I, Haenisch S
Pharmacogenetics of ATP-binding cassette transporters and clinical implications.
Methods Mol Biol. 2010;596:95-121., [PMID:19949922] [PubMed]

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[hide] Ichida K
What lies behind serum urate concentration? Insights from genetic and genomic studies.
Genome Med. 2009 Dec 29;1(12):118., [PMID:20090896] [PubMed]

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[hide] Yamagishi K, Tanigawa T, Kitamura A, Kottgen A, Folsom AR, Iso H
The rs2231142 variant of the ABCG2 gene is associated with uric acid levels and gout among Japanese people.
Rheumatology (Oxford). 2010 Aug;49(8):1461-5. Epub 2010 Apr 25., [PMID:20421215] [PubMed]

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[hide] Wright AF, Rudan I, Hastie ND, Campbell H
A 'complexity' of urate transporters.
Kidney Int. 2010 Sep;78(5):446-52. Epub 2010 Jul 7., [PMID:20613716] [PubMed]

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[hide] Ni Z, Bikadi Z, Rosenberg MF, Mao Q
Structure and function of the human breast cancer resistance protein (BCRP/ABCG2).
Curr Drug Metab. 2010 Sep;11(7):603-17., [PMID:20812902] [PubMed]

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[hide] Phipps-Green AJ, Hollis-Moffatt JE, Dalbeth N, Merriman ME, Topless R, Gow PJ, Harrison AA, Highton J, Jones PB, Stamp LK, Merriman TR
A strong role for the ABCG2 gene in susceptibility to gout in New Zealand Pacific Island and Caucasian, but not Maori, case and control sample sets.
Hum Mol Genet. 2010 Dec 15;19(24):4813-9. Epub 2010 Sep 21., 2010-12-15 [PMID:20858603] [PubMed]

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[hide] Meyer zu Schwabedissen HE, Kroemer HK
In vitro and in vivo evidence for the importance of breast cancer resistance protein transporters (BCRP/MXR/ABCP/ABCG2).
Handb Exp Pharmacol. 2011;(201):325-71., [PMID:21103975] [PubMed]

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[hide] Ishikawa T, Nakagawa H, Hagiya Y, Nonoguchi N, Miyatake S, Kuroiwa T
Key Role of Human ABC Transporter ABCG2 in Photodynamic Therapy and Photodynamic Diagnosis.
Adv Pharmacol Sci. 2010;2010:587306. Epub 2010 Jul 8., [PMID:21188243] [PubMed]

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[hide] Hamajima N, Okada R, Kawai S, Hishida A, Morita E, Yin G, Wakai K, Matsuo H, Inoue H, Takada Y, Asai Y, Mori A, Naito M
Significant association of serum uric acid levels with SLC2A9 rs11722228 among a Japanese population.
Mol Genet Metab. 2011 Aug;103(4):378-82. Epub 2011 Apr 8., [PMID:21511506] [PubMed]

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[hide] Ieiri I, Higuchi S, Sugiyama Y
Genetic polymorphisms of uptake (OATP1B1, 1B3) and efflux (MRP2, BCRP) transporters: implications for inter-individual differences in the pharmacokinetics and pharmacodynamics of statins and other clinically relevant drugs.
Expert Opin Drug Metab Toxicol. 2009 Jul;5(7):703-29., [PMID:19442037] [PubMed]

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[hide] Grandvuinet AS, Vestergaard HT, Rapin N, Steffansen B
Intestinal transporters for endogenic and pharmaceutical organic anions: the challenges of deriving in-vitro kinetic parameters for the prediction of clinically relevant drug-drug interactions.
J Pharm Pharmacol. 2012 Nov;64(11):1523-48. doi: 10.1111/j.2042-7158.2012.01505.x. Epub 2012 Mar 30., [PMID:23058041] [PubMed]

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[hide] Reginato AM, Mount DB, Yang I, Choi HK
The genetics of hyperuricaemia and gout.
Nat Rev Rheumatol. 2012 Oct;8(10):610-21. doi: 10.1038/nrrheum.2012.144. Epub 2012 Sep 4., [PMID:22945592] [PubMed]

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[hide] Hamajima N, Naito M, Okada R, Kawai S, Yin G, Morita E, Higashibata T, Tamura T, Nakagawa H, Matsuo H, Mori A, Wakai K
Significant interaction between LRP2 rs2544390 in intron 1 and alcohol drinking for serum uric acid levels among a Japanese population.
Gene. 2012 Jul 15;503(1):131-6. Epub 2012 Apr 28., [PMID:22565184] [PubMed]

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[hide] Ichida K, Matsuo H, Takada T, Nakayama A, Murakami K, Shimizu T, Yamanashi Y, Kasuga H, Nakashima H, Nakamura T, Takada Y, Kawamura Y, Inoue H, Okada C, Utsumi Y, Ikebuchi Y, Ito K, Nakamura M, Shinohara Y, Hosoyamada M, Sakurai Y, Shinomiya N, Hosoya T, Suzuki H
Decreased extra-renal urate excretion is a common cause of hyperuricemia.
Nat Commun. 2012 Apr 3;3:764. doi: 10.1038/ncomms1756., [PMID:22473008] [PubMed]

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[hide] Ieiri I
Functional significance of genetic polymorphisms in P-glycoprotein (MDR1, ABCB1) and breast cancer resistance protein (BCRP, ABCG2).
Drug Metab Pharmacokinet. 2012;27(1):85-105. Epub 2011 Nov 29., [PMID:22123128] [PubMed]

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[hide] Mo W, Zhang JT
Human ABCG2: structure, function, and its role in multidrug resistance.
Int J Biochem Mol Biol. 2012;3(1):1-27. Epub 2011 Mar 30., [PMID:22509477] [PubMed]

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[hide] Matsuo H, Takada T, Ichida K, Nakamura T, Nakayama A, Suzuki H, Hosoya T, Shinomiya N
ABCG2/BCRP dysfunction as a major cause of gout.
Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1117-28., [PMID:22132966] [PubMed]

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[hide] Matsuo H, Takada T, Ichida K, Nakamura T, Nakayama A, Takada Y, Okada C, Sakurai Y, Hosoya T, Kanai Y, Suzuki H, Shinomiya N
Identification of ABCG2 dysfunction as a major factor contributing to gout.
Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1098-104., [PMID:22132963] [PubMed]

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[hide] Nakayama A, Matsuo H, Takada T, Ichida K, Nakamura T, Ikebuchi Y, Ito K, Hosoya T, Kanai Y, Suzuki H, Shinomiya N
ABCG2 is a high-capacity urate transporter and its genetic impairment increases serum uric acid levels in humans.
Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1091-7., [PMID:22132962] [PubMed]

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[hide] Shimizu T, Sugiura T, Wakayama T, Kijima A, Nakamichi N, Iseki S, Silver DL, Kato Y
PDZK1 regulates breast cancer resistance protein in small intestine.
Drug Metab Dispos. 2011 Nov;39(11):2148-54. Epub 2011 Aug 4., [PMID:21816982] [PubMed]

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[hide] Woodward OM, Kottgen A, Kottgen M
ABCG transporters and disease.
FEBS J. 2011 Sep;278(18):3215-25. doi: 10.1111/j.1742-4658.2011.08171.x. Epub 2011 Jun 13., [PMID:21554546] [PubMed]

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[hide] Poguntke M, Hazai E, Fromm MF, Zolk O
Drug transport by breast cancer resistance protein.
Expert Opin Drug Metab Toxicol. 2010 Nov;6(11):1363-84. Epub 2010 Sep 27., [PMID:20873966] [PubMed]

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[hide] Matsuo H, Takada T, Ichida K, Nakamura T, Nakayama A, Ikebuchi Y, Ito K, Kusanagi Y, Chiba T, Tadokoro S, Takada Y, Oikawa Y, Inoue H, Suzuki K, Okada R, Nishiyama J, Domoto H, Watanabe S, Fujita M, Morimoto Y, Naito M, Nishio K, Hishida A, Wakai K, Asai Y, Niwa K, Kamakura K, Nonoyama S, Sakurai Y, Hosoya T, Kanai Y, Suzuki H, Hamajima N, Shinomiya N
Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population.
Sci Transl Med. 2009 Nov 4;1(5):5ra11., [PMID:20368174] [PubMed]

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[hide] George RL, Keenan RT
Genetics of hyperuricemia and gout: implications for the present and future.
Curr Rheumatol Rep. 2013 Feb;15(2):309. doi: 10.1007/s11926-012-0309-8., [PMID:23307580] [PubMed]

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[hide] Hinohara Y, Naito M, Okada R, Yin G, Higashibata T, Tamura T, Kawai S, Morita E, Wakai K, Matsuo H, Mori A, Hamajima N
No association between MTHFR C677T and serum uric acid levels among Japanese with ABCG2 126QQ and SLC22A12 258WW.
Nagoya J Med Sci. 2013 Feb;75(1-2):93-100., [PMID:23544272] [PubMed]

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[hide] Takada T
[Transporter-mediated regulation of pharmacokinetics of lifestyle-related substances].
Yakugaku Zasshi. 2013;133(4):451-61., [PMID:23546589] [PubMed]

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[hide] Matsuo H, Ichida K, Takada T, Nakayama A, Nakashima H, Nakamura T, Kawamura Y, Takada Y, Yamamoto K, Inoue H, Oikawa Y, Naito M, Hishida A, Wakai K, Okada C, Shimizu S, Sakiyama M, Chiba T, Ogata H, Niwa K, Hosoyamada M, Mori A, Hamajima N, Suzuki H, Kanai Y, Sakurai Y, Hosoya T, Shimizu T, Shinomiya N
Common dysfunctional variants in ABCG2 are a major cause of early-onset gout.
Sci Rep. 2013;3:2014. doi: 10.1038/srep02014., [PMID:23774753] [PubMed]

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[hide] Matsuo H, Nakayama A, Sakiyama M, Chiba T, Shimizu S, Kawamura Y, Nakashima H, Nakamura T, Takada Y, Oikawa Y, Takada T, Nakaoka H, Abe J, Inoue H, Wakai K, Kawai S, Guang Y, Nakagawa H, Ito T, Niwa K, Yamamoto K, Sakurai Y, Suzuki H, Hosoya T, Ichida K, Shimizu T, Shinomiya N
ABCG2 dysfunction causes hyperuricemia due to both renal urate underexcretion and renal urate overload.
Sci Rep. 2014 Jan 20;4:3755. doi: 10.1038/srep03755., [PMID:24441388] [PubMed]

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[hide] Dalbeth N, House ME, Gamble GD, Pool B, Horne A, Purvis L, Stewart A, Merriman M, Cadzow M, Phipps-Green A, Merriman TR
Influence of the ABCG2 gout risk 141 K allele on urate metabolism during a fructose challenge.
Arthritis Res Ther. 2014 Jan 30;16(1):R34. doi: 10.1186/ar4463., [PMID:24476385] [PubMed]

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[hide] Jani M, Ambrus C, Magnan R, Jakab KT, Beery E, Zolnerciks JK, Krajcsi P
Structure and function of BCRP, a broad specificity transporter of xenobiotics and endobiotics.
Arch Toxicol. 2014 Jun;88(6):1205-48. doi: 10.1007/s00204-014-1224-8. Epub 2014 Apr 29., [PMID:24777822] [PubMed]

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[hide] Zhou D, Liu Y, Zhang X, Gu X, Wang H, Luo X, Zhang J, Zou H, Guan M
Functional polymorphisms of the ABCG2 gene are associated with gout disease in the Chinese Han male population.
Int J Mol Sci. 2014 May 22;15(5):9149-59. doi: 10.3390/ijms15059149., [PMID:24857923] [PubMed]

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[hide] Nakayama A, Matsuo H, Nakaoka H, Nakamura T, Nakashima H, Takada Y, Oikawa Y, Takada T, Sakiyama M, Shimizu S, Kawamura Y, Chiba T, Abe J, Wakai K, Kawai S, Okada R, Tamura T, Shichijo Y, Akashi A, Suzuki H, Hosoya T, Sakurai Y, Ichida K, Shinomiya N
Common dysfunctional variants of ABCG2 have stronger impact on hyperuricemia progression than typical environmental risk factors.
Sci Rep. 2014 Jun 9;4:5227. doi: 10.1038/srep05227., [PMID:24909660] [PubMed]

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[hide] Miura Y, Imamura CK, Fukunaga K, Katsuyama Y, Suyama K, Okaneya T, Mushiroda T, Ando Y, Takano T, Tanigawara Y
Sunitinib-induced severe toxicities in a Japanese patient with the ABCG2 421 AA genotype.
BMC Cancer. 2014 Dec 16;14:964. doi: 10.1186/1471-2407-14-964., [PMID:25515134] [PubMed]

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[hide] Suma S, Naito M, Okada R, Kawai S, Yin G, Morita E, Wakai K, Matsuo H, Hamajima N
ASSOCIATIONS BETWEEN BODY MASS INDEX AND SERUM URIC ACID LEVELS IN A JAPANESE POPULATION WERE SIGNIFICANTLY MODIFIED BY LRP2 rs2544390.
Nagoya J Med Sci. 2014 Aug;76(3-4):333-9., [PMID:25741042] [PubMed]

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[hide] Ogura J, Kuwayama K, Sasaki S, Kaneko C, Koizumi T, Yabe K, Tsujimoto T, Takeno R, Takaya A, Kobayashi M, Yamaguchi H, Iseki K
Reactive oxygen species derived from xanthine oxidase interrupt dimerization of breast cancer resistance protein, resulting in suppression of uric acid excretion to the intestinal lumen.
Biochem Pharmacol. 2015 Sep 1;97(1):89-98. doi: 10.1016/j.bcp.2015.06.021. Epub 2015 Jun 25., [PMID:26119820] [PubMed]

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[hide] Woodward OM
ABCG2: the molecular mechanisms of urate secretion and gout.
Am J Physiol Renal Physiol. 2015 Sep 15;309(6):F485-8. doi: 10.1152/ajprenal.00242.2015. Epub 2015 Jul 1., [PMID:26136557] [PubMed]

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[hide] Jiri M, Zhang L, Lan B, He N, Feng T, Liu K, Jin T, Kang L
Genetic variation in the ABCG2 gene is associated with gout risk in the Chinese Han population.
Clin Rheumatol. 2015 Oct 27., [PMID:26506822] [PubMed]

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[hide] Li R, Miao L, Qin L, Xiang Y, Zhang X, Peng H, Mailamuguli, Sun Y, Yao H
A meta-analysis of the associations between the Q141K and Q126X ABCG2 gene variants and gout risk.
Int J Clin Exp Pathol. 2015 Sep 1;8(9):9812-23. eCollection 2015., [PMID:26617691] [PubMed]

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