ABCG2 c.376C>T ;(p.Q126*)

Variant ID: 4-89052957-G-A

NM_004827.2(ABCG2):c.376C>T;(p.Q126*)

This variant was identified in 96 publications

View GRCh38 version.




Publications:


Impact of Hyper- and Hypo-Uricemia on Kidney Function.

Biomedicines
Miake, Junichiro J; Hisatome, Ichiro I; Tomita, Katsuyuki K; Isoyama, Tadahiro T; Sugihara, Shinobu S; Kuwabara, Masanari M; Ogino, Kazuhide K; Ninomiya, Haruaki H
Publication Date: 2023-04-24

Variant appearance in text: ABCG2: Q126X
PubMed Link: 37238929
Variant Present in the following documents:
  • Main text
  • biomedicines-11-01258.pdf
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Cannabis Pharmacogenomics: A Path to Personalized Medicine.

Current Issues In Molecular Biology
Babayeva, Mariana M; Loewy, Zvi G ZG
Publication Date: 2023-04-17

Variant appearance in text: ABCG2: Q126X; rs72552713
PubMed Link: 37185752
Variant Present in the following documents:
  • Main text
  • cimb-45-00228.pdf
View BVdb publication page



ABCG2 in Acute Myeloid Leukemia: Old and New Perspectives.

International Journal Of Molecular Sciences
Damiani, Daniela D; Tiribelli, Mario M
Publication Date: 2023-04-12

Variant appearance in text: ABCG2: Q126X
PubMed Link: 37108308
Variant Present in the following documents:
  • Main text
  • ijms-24-07147.pdf
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Evaluation of ABCG2-mediated extra-renal urate excretion in hemodialysis patients.

Scientific Reports
Ohashi, Yuki Y; Toyoda, Masao M; Saito, Nobumichi N; Koizumi, Masahiro M; Kanai, Genta G; Komaba, Hirotaka H; Kimura, Moritsugu M; Wada, Takehiko T; Takahashi, Hiroo H; Takahashi, Yuichiro Y; Ishida, Naoto N; Kakuta, Takatoshi T; Fukagawa, Masafumi M; Ichida, Kimiyoshi K
Publication Date: 2023-01-13

Variant appearance in text: ABCG2: Q126X; rs72552713
PubMed Link: 36639673
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_26519.pdf
  • 41598_2022_26519_MOESM1_ESM.pdf
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Gene Dose-Dependent and Additive Effects of ABCG2 rs2231142 and SLC2A9 rs3733591 Genetic Polymorphisms on Serum Uric Acid Levels.

Metabolites
Park, Jin-Woo JW; Noh, Ji-Hyeon JH; Kim, Jong-Min JM; Lee, Hwa-Young HY; Kim, Kyoung-Ah KA; Park, Ji-Young JY
Publication Date: 2022-11-29

Variant appearance in text: rs72552713
PubMed Link: 36557230
Variant Present in the following documents:
  • Main text
  • metabolites-12-01192.pdf
View BVdb publication page



Comparison of genetic susceptibility to lung adenocarcinoma and squamous cell carcinoma in Japanese patients using a novel panel for cancer-related drug-metabolizing enzyme genes.

Scientific Reports
Ohnami, Sumiko S; Naruoka, Akane A; Isaka, Mitsuhiro M; Mizuguchi, Maki M; Nakatani, Sou S; Kamada, Fukumi F; Shimoda, Yuji Y; Sakai, Ai A; Ohshima, Keiichi K; Hatakeyama, Keiichi K; Maruyama, Kouji K; Ohde, Yasuhisa Y; Kenmotsu, Hirotsugu H; Takahashi, Toshiaki T; Akiyama, Yasuto Y; Nagashima, Takeshi T; Urakami, Kenichi K; Ohnami, Shumpei S; Yamaguchi, Ken K
Publication Date: 2022-10-26

Variant appearance in text: rs72552713
PubMed Link: 36289279
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_22914.pdf
View BVdb publication page



Trends in the Contribution of Genetic Susceptibility Loci to Hyperuricemia and Gout and Associated Novel Mechanisms.

Frontiers In Cell And Developmental Biology
Zhao, Jianan J; Guo, Shicheng S; Schrodi, Steven J SJ; He, Dongyi D
Publication Date: 2022

Variant appearance in text: rs72552713
PubMed Link: 35813212
Variant Present in the following documents:
  • Main text
  • fcell-10-937855.pdf
View BVdb publication page



Examining an Association of Single Nucleotide Polymorphisms with Hyperuricemia in Chinese Flight Attendants.

Pharmacogenomics And Personalized Medicine
Ye, Jianpin J; Zeng, Zhiwei Z; Chen, Yuxian Y; Wu, Zhenkun Z; Yang, Qingwei Q; Sun, Tao T
Publication Date: 2022

Variant appearance in text: ABCG2: Q126X; rs72552713
PubMed Link: 35702613
Variant Present in the following documents:
  • Main text
  • pgpm-15-589.pdf
View BVdb publication page



Germline variants in cancer therapy.

Cancer Drug Resistance (Alhambra, Calif.)
Kaehler, Meike M; Cascorbi, Ingolf I
Publication Date: 2019

Variant appearance in text: rs72552713
PubMed Link: 35582146
Variant Present in the following documents:
  • cdr-2-18.pdf
View BVdb publication page



Pharmacokinetics of Tenofovir Alafenamide Fumarate and Tenofovir in the Chinese People: Effects of Non-Genetic Factors and Genetic Variations.

Pharmacogenomics And Personalized Medicine
Li, Xue X; Tan, Xin-Yi XY; Cui, Xue-Jun XJ; Yang, Ming M; Chen, Chao C; Chen, Xiao-Yun XY
Publication Date: 2021

Variant appearance in text: rs72552713
PubMed Link: 34703277
Variant Present in the following documents:
  • Main text
  • pgpm-14-1315.pdf
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs72552713
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 5
View BVdb publication page



Function of Uric Acid Transporters and Their Inhibitors in Hyperuricaemia.

Frontiers In Pharmacology
Sun, Hao-Lu HL; Wu, Yi-Wan YW; Bian, He-Ge HG; Yang, Hui H; Wang, Heng H; Meng, Xiao-Ming XM; Jin, Juan J
Publication Date: 2021

Variant appearance in text: ABCG2: Q126X
PubMed Link: 34335246
Variant Present in the following documents:
  • Main text
View BVdb publication page



Urate Transporters in the Kidney: What Clinicians Need to Know.

Electrolyte & Blood Pressure : E & Bp
Chung, Sungjin S; Kim, Gheun-Ho GH
Publication Date: 2021-06

Variant appearance in text: ABCG2: Q126X
PubMed Link: 34290818
Variant Present in the following documents:
  • Main text
  • ebp-19-1.pdf
View BVdb publication page



Circulating microRNA alternations in primary hyperuricemia and gout.

Arthritis Research & Therapy
Bohatá, Jana J; Horváthová, Veronika V; Pavlíková, Markéta M; Stibůrková, Blanka B
Publication Date: 2021-07-10

Variant appearance in text: ABCG2: Q126X; rs72552713
PubMed Link: 34246297
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Role of ABCG2 in the Pathogenesis of Primary Hyperuricemia and Gout-An Update.

International Journal Of Molecular Sciences
Eckenstaler, Robert R; Benndorf, Ralf A RA
Publication Date: 2021-06-22

Variant appearance in text: ABCG2: 376C>T; Q126X; rs72552713
PubMed Link: 34206432
Variant Present in the following documents:
  • Main text
  • ijms-22-06678.pdf
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Estradiol regulates intestinal ABCG2 to promote urate excretion via the PI3K/Akt pathway.

Nutrition & Metabolism
Liu, Lei L; Zhao, Tianyi T; Shan, Lizhen L; Cao, Ling L; Zhu, Xiaoxia X; Xue, Yu Y
Publication Date: 2021-06-18

Variant appearance in text: ABCG2: Q126X
PubMed Link: 34144706
Variant Present in the following documents:
  • Main text
  • 12986_2021_Article_583.pdf
View BVdb publication page



Porphyrin accumulation in humans with common dysfunctional variants of ABCG2, a porphyrin transporter: potential association with acquired photosensitivity.

Human Cell
Sakiyama, Masayuki M; Matsuo, Hirotaka H; Toyoda, Yu Y; Yonekura, Yuiko Y; Ishikawa, Takahiro T; Nakayama, Akiyoshi A; Higashino, Toshihide T; Kawamura, Yusuke Y; Fujimoto, Norihiro N; Shinomiya, Nariyoshi N; Satoh, Takahiro T
Publication Date: 2021-07

Variant appearance in text: ABCG2: Q126X; rs72552713
PubMed Link: 34009629
Variant Present in the following documents:
  • Main text
  • 13577_2021_Article_534.pdf
View BVdb publication page



Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.

Rheumatology (Oxford, England)
Toyoda, Yu Y; Kawamura, Yusuke Y; Nakayama, Akiyoshi A; Nakaoka, Hirofumi H; Higashino, Toshihide T; Shimizu, Seiko S; Ooyama, Hiroshi H; Morimoto, Keito K; Uchida, Naohiro N; Shigesawa, Ryuichiro R; Takeuchi, Kenji K; Inoue, Ituro I; Ichida, Kimiyoshi K; Suzuki, Hiroshi H; Shinomiya, Nariyoshi N; Takada, Tappei T; Matsuo, Hirotaka H
Publication Date: 2021-11-03

Variant appearance in text: ABCG2: Q126X
PubMed Link: 33821957
Variant Present in the following documents:
  • Main text
View BVdb publication page



Medically Important Alterations in Transport Function and Trafficking of ABCG2.

International Journal Of Molecular Sciences
Homolya, László L
Publication Date: 2021-03-10

Variant appearance in text: ABCG2: Q126X; rs72552713
PubMed Link: 33801813
Variant Present in the following documents:
  • Main text
  • ijms-22-02786.pdf
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Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout.

International Journal Of Molecular Sciences
Toyoda, Yu Y; Pavelcová, Kateřina K; Bohatá, Jana J; Ješina, Pavel P; Kubota, Yu Y; Suzuki, Hiroshi H; Takada, Tappei T; Stiburkova, Blanka B
Publication Date: 2021-02-16

Variant appearance in text: ABCG2: 376C>T; Q126X; rs72552713
PubMed Link: 33669292
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Multi-Objective Approach for Drug Repurposing in Preeclampsia.

Molecules (Basel, Switzerland)
Tejera, Eduardo E; Pérez-Castillo, Yunierkis Y; Chamorro, Andrea A; Cabrera-Andrade, Alejandro A; Sanchez, Maria Eugenia ME
Publication Date: 2021-02-03

Variant appearance in text: ABCG2: Q126X
PubMed Link: 33546161
Variant Present in the following documents:
  • molecules-26-00777.pdf
View BVdb publication page



Racial Disparity in Drug Disposition in the Digestive Tract.

International Journal Of Molecular Sciences
Gao, Song S; Bell, Edward C EC; Zhang, Yun Y; Liang, Dong D
Publication Date: 2021-01-21

Variant appearance in text: ABCG2: Q126X
PubMed Link: 33494365
Variant Present in the following documents:
  • ijms-22-01038.pdf
View BVdb publication page



Common germline-somatic variant interactions in advanced urothelial cancer.

Nature Communications
Vosoughi, Aram A; Zhang, Tuo T; Shohdy, Kyrillus S KS; Vlachostergios, Panagiotis J PJ; Wilkes, David C DC; Bhinder, Bhavneet B; Tagawa, Scott T ST; Nanus, David M DM; Molina, Ana M AM; Beltran, Himisha H; Sternberg, Cora N CN; Motanagh, Samaneh S; Robinson, Brian D BD; Xiang, Jenny J; Fan, Xiao X; Chung, Wendy K WK; Rubin, Mark A MA; Elemento, Olivier O; Sboner, Andrea A; Mosquera, Juan Miguel JM; Faltas, Bishoy M BM
Publication Date: 2020-12-03

Variant appearance in text: ABCG2: 376C>T; Gln126*; rs72552713
PubMed Link: 33273457
Variant Present in the following documents:
  • 41467_2020_19971_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis.

Bmc Medical Genetics
Lukkunaprasit, Thitiya T; Rattanasiri, Sasivimol S; Turongkaravee, Saowalak S; Suvannang, Naravut N; Ingsathit, Atiporn A; Attia, John J; Thakkinstian, Ammarin A
Publication Date: 2020-10-21

Variant appearance in text: ABCG2: Q126X; rs72552713
PubMed Link: 33087043
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_1147.pdf
View BVdb publication page



Comprehensive Analysis of ABCG2 Genetic Variation in the Polish Population and Its Inter-Population Comparison.

Genes
Słomka, Marcin M; Sobalska-Kwapis, Marta M; Korycka-Machała, Małgorzata M; Dziadek, Jarosław J; Bartosz, Grzegorz G; Strapagiel, Dominik D
Publication Date: 2020-09-29

Variant appearance in text: ABCG2: 376C>T; Gln126Ter; rs72552713
PubMed Link: 33003314
Variant Present in the following documents:
  • Main text
View BVdb publication page



Picky ABCG5/G8 and promiscuous ABCG2 - a tale of fatty diets and drug toxicity.

Febs Letters
Khunweeraphong, Narakorn N; Mitchell-White, James J; Szöllősi, Dániel D; Hussein, Toka T; Kuchler, Karl K; Kerr, Ian D ID; Stockner, Thomas T; Lee, Jyh-Yeuan JY
Publication Date: 2020-12

Variant appearance in text: ABCG2: Q126X
PubMed Link: 32978801
Variant Present in the following documents:
  • Main text
  • FEB2-594-4035.pdf
View BVdb publication page



Long-Term Safety and Effectiveness of the Xanthine Oxidoreductase Inhibitor, Topiroxostat in Japanese Hyperuricemic Patients with or Without Gout: A 54-week Open-label, Multicenter, Post-marketing Observational Study.

Clinical Drug Investigation
Ishikawa, Tomohiko T; Maeda, Tatsushi T; Hashimoto, Teruo T; Nakagawa, Tetsuya T; Ichikawa, Kazuhito K; Sato, Yasushi Y; Kanno, Yoshihiko Y
Publication Date: 2020-09

Variant appearance in text: ABCG2: Q126X; rs72552713
PubMed Link: 32621143
Variant Present in the following documents:
  • Main text
  • 40261_2020_Article_941.pdf
View BVdb publication page



Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics
Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR
Publication Date: 2021-01

Variant appearance in text: ABCG2: 376C>T; Q126X; rs72552713
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pharmacologic inducers of the uric acid exporter ABCG2 as potential drugs for treatment of gouty arthritis.

Asian Journal Of Pharmaceutical Sciences
Ristic, Bojana B; Sikder, Mohd Omar Faruk MOF; Bhutia, Yangzom D YD; Ganapathy, Vadivel V
Publication Date: 2020-03

Variant appearance in text: ABCG2: Q126X
PubMed Link: 32373197
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation.

Annals Of Translational Medicine
Teng, Lisha L; Zhang, Yanling Y; Ye, Luxi L; Lv, Junhao J; Mao, Youying Y; Schneider, Ronen R; Chen, Jianghua J; Jiang, Hong H; Wu, Jianyong J
Publication Date: 2020-03

Variant appearance in text: ABCG2: Q126X
PubMed Link: 32355774
Variant Present in the following documents:
  • Main text
  • atm-08-06-330.pdf
View BVdb publication page



Dysfunctional ABCG2 gene polymorphisms are associated with serum uric acid levels and all-cause mortality in hemodialysis patients.

Human Cell
Nakashima, Akio A; Ichida, Kimiyoshi K; Ohkido, Ichiro I; Yokoyama, Keitaro K; Matsuo, Hirotaka H; Ohashi, Yuki Y; Takada, Tappei T; Nakayama, Akiyoshi A; Suzuki, Hiroshi H; Shinomiya, Nariyoshi N; Urashima, Mitsuyoshi M; Yokoo, Takashi T
Publication Date: 2020-07

Variant appearance in text: ABCG2: Q126X; rs72552713
PubMed Link: 32180207
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unraveling the genetic causes in large pedigrees with gout by whole‑exome sequencing.

International Journal Of Molecular Medicine
Xia, Xiaoru X; Jin, Jing J; Chen, Zhen-Ji ZJ; Zhou, Zhenni Z; Chen, Hui H; Zhang, Chunwu C; Zhang, Linhua L; Sun, Li L
Publication Date: 2020-04

Variant appearance in text: ABCG2: Gln126Ter; rs72552713
PubMed Link: 32124961
Variant Present in the following documents:
  • Main text
  • ijmm-45-04-1047.pdf
View BVdb publication page



Next-Generation Sequencing Technologies in Blood Group Typing.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie
Fürst, Daniel D; Tsamadou, Chrysanthi C; Neuchel, Christine C; Schrezenmeier, Hubert H; Mytilineos, Joannis J; Weinstock, Christof C
Publication Date: 2020-02

Variant appearance in text: ABCG2: 376C>T; Gln126X; rs72552713
PubMed Link: 32110189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction of the p.Q141K Variant of the ABCG2 Gene with Clinical Data and Cytokine Levels in Primary Hyperuricemia and Gout.

Journal Of Clinical Medicine
Horváthová, Veronika V; Bohatá, Jana J; Pavlíková, Markéta M; Pavelcová, Kateřina K; Pavelka, Karel K; Šenolt, Ladislav L; Stibůrková, Blanka B
Publication Date: 2019-11-14

Variant appearance in text: ABCG2: Q126X; rs72552713
PubMed Link: 31739430
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2.

Arthritis Research & Therapy
Toyoda, Yu Y; Pavelcová, Kateřina K; Klein, Martin M; Suzuki, Hiroshi H; Takada, Tappei T; Stiburkova, Blanka B
Publication Date: 2019-10-28

Variant appearance in text: ABCG2: 376C>T; Q126X
PubMed Link: 31661014
Variant Present in the following documents:
  • Main text
  • 13075_2019_Article_2007.pdf
View BVdb publication page



Cellular Processing of the ABCG2 Transporter-Potential Effects on Gout and Drug Metabolism.

Cells
Mózner, Orsolya O; Bartos, Zsuzsa Z; Zámbó, Boglárka B; Homolya, László L; Hegedűs, Tamás T; Sarkadi, Balázs B
Publication Date: 2019-10-08

Variant appearance in text: ABCG2: Q126X
PubMed Link: 31597297
Variant Present in the following documents:
  • Main text
  • cells-08-01215.pdf
View BVdb publication page



Development of precision medicine approaches based on inter-individual variability of BCRP/ABCG2.

Acta Pharmaceutica Sinica. B
Chen, Liming L; Manautou, Jose E JE; Rasmussen, Theodore P TP; Zhong, Xiao-Bo XB
Publication Date: 2019-07

Variant appearance in text: rs72552713
PubMed Link: 31384528
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Cellular expression and function of naturally occurring variants of the human ABCG2 multidrug transporter.

Cellular And Molecular Life Sciences : Cmls
Zámbó, Boglárka B; Mózner, Orsolya O; Bartos, Zsuzsa Z; Török, György G; Várady, György G; Telbisz, Ágnes Á; Homolya, László L; Orbán, Tamás I TI; Sarkadi, Balázs B
Publication Date: 2020-01

Variant appearance in text: ABCG2: Q126X
PubMed Link: 31254042
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: ABCG2: Q126*
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 54
View BVdb publication page