Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: ABCC4: E757K

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: ABCC4: E757K; rs3765534

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: ABCC4: E757K; rs3765534

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 4
• can-22-2224_table_s8_suppst8.xlsx, sheet 2

View BVdb publication page

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An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology

Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F

Publication Date: 2022-10-26

Variant appearance in text: ABCC4: E757K; rs3765534

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1
• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Personalized medicine to implementation science: Thiopurines set for the leap.

Jgh Open : An Open Access Journal Of Gastroenterology And Hepatology

Sharma, Vishal V; Kedia, Saurabh S; Ahuja, Vineet V

Publication Date: 2022-10

Variant appearance in text: rs3765534

PubMed Link: 36262539

Variant Present in the following documents:

• Main text
• JGH3-6-651.pdf

View BVdb publication page

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Optimizing thiopurine therapy in children with acute lymphoblastic leukemia: A promising "MINT" sequencing strategy and therapeutic "DNA-TG" monitoring.

Frontiers In Pharmacology

Guo, Hong-Li HL; Zhao, Yue-Tao YT; Wang, Wei-Jun WJ; Dong, Na N; Hu, Ya-Hui YH; Zhang, Yuan-Yuan YY; Chen, Feng F; Zhou, Li L; Li, Tao T

Publication Date: 2022

Variant appearance in text: rs3765534

PubMed Link: 36238550

Variant Present in the following documents:

• Main text
• fphar-13-941182.pdf

View BVdb publication page

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Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON).

Molecular Genetics & Genomic Medicine

Matsumoto, Hideki H; Sasai, Hideo H; Kawamoto, Norio N; Katsuyama, Masato M; Minamiyama, Makoto M; Kuru, Satoshi S; Fukao, Toshiyuki T; Ohnishi, Hidenori H; ,

Publication Date: 2021-12-24

Variant appearance in text: ABCC4: 2269G>A; Glu757Lys; rs3765534

PubMed Link: 34951141

Variant Present in the following documents:

• Main text
• MGG3-10-e1845.pdf

View BVdb publication page

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Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON).

Molecular Genetics & Genomic Medicine

Matsumoto, Hideki H; Sasai, Hideo H; Kawamoto, Norio N; Katsuyama, Masato M; Minamiyama, Makoto M; Kuru, Satoshi S; Fukao, Toshiyuki T; Ohnishi, Hidenori H; ,

Publication Date: 2022-01

Variant appearance in text: ABCC4: 2269G>A; Glu757Lys; rs3765534

PubMed Link: 34951141

Variant Present in the following documents:

• Main text
• MGG3-10-e1845.pdf

View BVdb publication page

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NUDT15 c.415C>T Polymorphism Predicts 6-MP Induced Early Myelotoxicity in Patients with Acute Lymphoblastic Leukemia Undergoing Maintenance Therapy.

Pharmacogenomics And Personalized Medicine

Pai, Aswin Anand AA; Mohan, Ajith A; Benjamin, Esther Sathya Bama ESB; Illangeswaran, Raveen Stephen Stallon RSS; Xavier Raj, Infencia I; Janet, Nancy Beryl NB; Arunachalam, Arun Kumar AK; Kavitha, M L ML; Kulkarni, Uday U; Devasia, Anup J AJ; Fouzia, N A NA; Abraham, Aby A; Srivastava, Alok A; George, Biju B; Mathews, Vikram V; Korula, Anu A; Balasubramanian, Poonkuzhali P

Publication Date: 2021

Variant appearance in text: MRP4: 2269G>A; rs3765534

PubMed Link: 34629890

Variant Present in the following documents:

• Main text
• pgpm-14-1303.pdf

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: ABCC4: 2269G>A; E757K; rs3765534

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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TPMT*3C as a Predictor of 6-Mercaptopurine-Induced Myelotoxicity in Thai Children with Acute Lymphoblastic Leukemia.

Journal Of Personalized Medicine

Jantararoungtong, Thawinee T; Wiwattanakul, Supaporn S; Tiyasirichokchai, Rawiporn R; Prommas, Santirhat S; Sukprasong, Rattanaporn R; Koomdee, Napatrupron N; Jinda, Pimonpan P; Rachanakul, Jiratha J; Nuntharadthanaphong, Nutthan N; Pakakasama, Samart S; Anurathapan, Usanarat U; Hongeng, Suradej S; Sukasem, Chonlaphat C

Publication Date: 2021-08-11

Variant appearance in text: rs3765534

PubMed Link: 34442427

Variant Present in the following documents:

• Main text
• jpm-11-00783.pdf

View BVdb publication page

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AHR-dependent genes and response to MTX therapy in rheumatoid arthritis patients.

The Pharmacogenomics Journal

Wajda, Anna A; Walczuk, Ewa E; Stypińska, Barbara B; Lach, Jakub J; Yermakovich, Danat D; Sivitskaya, Larysa L; Romanowska-Próchnicka, Katarzyna K; Wysocki, Tomasz T; Jarończyk, Małgorzata M; Paradowska-Gorycka, Agnieszka A

Publication Date: 2021-10

Variant appearance in text: ABCC4: 2269G>A; rs3765534

PubMed Link: 34302046

Variant Present in the following documents:

• Main text
• 41397_2021_Article_238.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: ABCC4: 2269G>A; E757K; rs3765534

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Homozygous of MRP4 Gene rs1751034 C Allele Is Related to Increased Risk of Intravenous Immunoglobulin Resistance in Kawasaki Disease.

Frontiers In Genetics

Wang, Yanfei Y; Xu, Yufen Y; Huang, Ping P; Che, Di D; Wang, Zhouping Z; Huang, Xijing X; Xie, Xiaofei X; Li, Wei W; Zhang, Li L; Gu, Xiaoqiong X

Publication Date: 2021

Variant appearance in text: rs3765534

PubMed Link: 33790941

Variant Present in the following documents:

• Main text
• fgene-12-510350.pdf

View BVdb publication page

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: rs3765534

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Pharmacogenetic Study of Trabectedin-Induced Severe Hepatotoxicity in Patients with Advanced Soft Tissue Sarcoma.

Cancers

Maillard, Maud M; Chevreau, Christine C; Le Louedec, Félicien F; Cassou, Manon M; Delmas, Caroline C; Gourdain, Laure L; Blay, Jean-Yves JY; Cupissol, Didier D; Bompas, Emmanuelle E; Italiano, Antoine A; Isambert, Nicolas N; Delcambre-Lair, Corinne C; Penel, Nicolas N; Bertucci, François F; Guillemet, Cécile C; Plenecassagnes, Julien J; Foulon, Stéphanie S; Chatelut, Étienne É; Le Cesne, Axel A; Thomas, Fabienne F

Publication Date: 2020-12-04

Variant appearance in text: ABCC4: 2269G>A

PubMed Link: 33291741

Variant Present in the following documents:

• Main text
• cancers-12-03647.pdf
• cancers-12-03647-s001.pdf

View BVdb publication page

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Pharmacogenomics as a Tool to Limit Acute and Long-Term Adverse Effects of Chemotherapeutics: An Update in Pediatric Oncology.

Frontiers In Pharmacology

Bernsen, Emma C EC; Hagleitner, Melanie M MM; Kouwenberg, Theodorus W TW; Hanff, Lidwien M LM

Publication Date: 2020

Variant appearance in text: rs3765534

PubMed Link: 32848787

Variant Present in the following documents:

• Table_1.pdf

View BVdb publication page

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Implementation of Pharmacogenetics to Individualize Treatment Regimens for Children with Acute Lymphoblastic Leukemia.

Pharmacogenomics And Personalized Medicine

Maamari, Dimitri D; El-Khoury, Habib H; Saifi, Omran O; Muwakkit, Samar A SA; Zgheib, Nathalie K NK

Publication Date: 2020

Variant appearance in text: rs3765534

PubMed Link: 32848445

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: ABCC4: 2269G>A; E757K; rs3765534

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Effects of various genetic polymorphisms on thiopurine treatment-associated outcomes for Korean patients with Crohn's disease.

British Journal Of Clinical Pharmacology

Choi, Rihwa R; Lee, Mi-Na MN; Kim, Kyunga K; Baek, Sun-Young SY; Kim, Tae Jun TJ; Hong, Sung Noh SN; Kim, Young-Ho YH; Lee, Soo-Youn SY

Publication Date: 2020-11

Variant appearance in text: rs3765534

PubMed Link: 32372428

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacogene Variation in Thai Plasmodium vivax Relapse Patients Treated with a Combination of Primaquine and Chloroquine.

Pharmacogenomics And Personalized Medicine

Chamnanphon, Monpat M; Gaedigk, Andrea A; Puangpetch, Apichaya A; Pasomsub, Ekawat E; Chantratita, Wasun W; Longley, Rhea J RJ; Sattabongkot, Jetsumon J; Chariyavilaskul, Pajaree P; Sukasem, Chonlaphat C

Publication Date: 2020

Variant appearance in text: ABCC4: 2269G>A; rs3765534

PubMed Link: 32021383

Variant Present in the following documents:

• Main text
• pgpm-13-1.pdf

View BVdb publication page

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Polymorphisms of the TNF Gene and Three Susceptibility Loci Are Associated with Crohn's Disease and Perianal Fistula Crohn's Disease: A Study among the Han Population from South China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Zhang, Min M; Wang, Xiaoyan X; Jiang, Xiaodong X; Yang, Xiangling X; Wen, Chuangyu C; Zhi, Min M; Gao, Xiang X; Hu, Pinjin P; Liu, Huanliang H

Publication Date: 2019-12-17

Variant appearance in text: rs3765534

PubMed Link: 31844038

Variant Present in the following documents:

• Main text
• medscimonit-25-9637.pdf

View BVdb publication page

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Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation.

Blood

Azouzi, Slim S; Mikdar, Mahmoud M; Hermand, Patricia P; Gautier, Emilie-Fleur EF; Salnot, Virginie V; Willemetz, Alexandra A; Nicolas, Gaël G; Vrignaud, Cédric C; Raneri, Alexandre A; Mayeux, Patrick P; Bole-Feysot, Christine C; Nitschké, Patrick P; Cartron, Jean-Pierre JP; Colin, Yves Y; Hermine, Olivier O; Jedlitschky, Gabriele G; Cloutier, Marc M; Constanzo-Yanez, Jessica J; Ethier, Carole C; Robitaille, Nancy N; St-Louis, Maryse M; Le Van Kim, Caroline C; Peyrard, Thierry T

Publication Date: 2020-02-06

Variant appearance in text: ABCC4: Glu757Lys; rs3765534

PubMed Link: 31826245

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: rs3765534

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Clioquinol: To harm or heal.

Pharmacology & Therapeutics

Perez, Dominique R DR; Sklar, Larry A LA; Chigaev, Alexandre A

Publication Date: 2019-07

Variant appearance in text: rs3765534

PubMed Link: 30898518

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Human ABC Transporter ABCC4 Gene SNP (rs11568658, 559 G > T, G187W) Reduces ABCC4-Dependent Drug Resistance.

Cells

Tsukamoto, Megumi M; Yamashita, Miho M; Nishi, Tsuyoshi T; Nakagawa, Hiroshi H

Publication Date: 2019-01-10

Variant appearance in text: ABCC4: E757K; rs3765534

PubMed Link: 30634695

Variant Present in the following documents:

• Main text
• cells-08-00039.pdf

View BVdb publication page

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ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

Journal Of Personalized Medicine

López-Fernández, Luis A LA

Publication Date: 2018-12-05

Variant appearance in text: ABCC4: 2269G>A; Glu757Lys; rs3765534

PubMed Link: 30563187

Variant Present in the following documents:

• jpm-08-00040-s001.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: ABCC4: E757K; rs3765534

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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ABCC4 Variants Modify Susceptibility to Kawasaki Disease in a Southern Chinese Population.

Disease Markers

Che, Di D; Pi, Lei L; Fang, Zhenzhen Z; Xu, Yufen Y; Cai, Minmin M; Fu, Lanyan L; Zhou, Huazhong H; Zhang, Li L; Gu, Xiaoqiong X

Publication Date: 2018

Variant appearance in text: rs3765534

PubMed Link: 30363999

Variant Present in the following documents:

• Main text

View BVdb publication page

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Revisiting the Role of Thiopurines in Inflammatory Bowel Disease Through Pharmacogenomics and Use of Novel Methods for Therapeutic Drug Monitoring.

Frontiers In Pharmacology

Lim, Sheng Zhang SZ; Chua, Eng Wee EW

Publication Date: 2018

Variant appearance in text: rs3765534

PubMed Link: 30349479

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs3765534

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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GSTP1 rs1695 is associated with both hematological toxicity and prognosis of ovarian cancer treated with paclitaxel plus carboplatin combination chemotherapy: a comprehensive analysis using targeted resequencing of 100 pharmacogenes.

Oncotarget

Yoshihama, Tomoko T; Fukunaga, Koya K; Hirasawa, Akira A; Nomura, Hiroyuki H; Akahane, Tomoko T; Kataoka, Fumio F; Yamagami, Wataru W; Aoki, Daisuke D; Mushiroda, Taisei T

Publication Date: 2018-07-03

Variant appearance in text: rs3765534

PubMed Link: 30038720

Variant Present in the following documents:

• Main text
• oncotarget-09-29789.pdf

View BVdb publication page

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NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study.

Journal Of Gastroenterology

Kakuta, Yoichi Y; Kawai, Yosuke Y; Okamoto, Daisuke D; Takagawa, Tetsuya T; Ikeya, Kentaro K; Sakuraba, Hirotake H; Nishida, Atsushi A; Nakagawa, Shoko S; Miura, Miki M; Toyonaga, Takahiko T; Onodera, Kei K; Shinozaki, Masaru M; Ishiguro, Yoh Y; Mizuno, Shinta S; Takahara, Masahiro M; Yanai, Shunichi S; Hokari, Ryota R; Nakagawa, Tomoo T; Araki, Hiroshi H; Motoya, Satoshi S; Naito, Takeo T; Moroi, Rintaro R; Shiga, Hisashi H; Endo, Katsuya K; Kobayashi, Taku T; Naganuma, Makoto M; Hiraoka, Sakiko S; Matsumoto, Takayuki T; Nakamura, Shiro S; Nakase, Hiroshi H; Hisamatsu, Tadakazu T; Sasaki, Makoto M; Hanai, Hiroyuki H; Andoh, Akira A; Nagasaki, Masao M; Kinouchi, Yoshitaka Y; Shimosegawa, Tooru T; Masamune, Atsushi A; Suzuki, Yasuo Y; ,

Publication Date: 2018-09

Variant appearance in text: ABCC4: Glu757Lys; rs3765534

PubMed Link: 29923122

Variant Present in the following documents:

• Main text
• 535_2018_1486_MOESM1_ESM.pdf
• 535_2018_Article_1486.pdf

View BVdb publication page

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Individual susceptibility to arsenic-induced diseases: the role of host genetics, nutritional status, and the gut microbiome.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society

Chi, Liang L; Gao, Bei B; Tu, Pengcheng P; Liu, Chih-Wei CW; Xue, Jingchuan J; Lai, Yunjia Y; Ru, Hongyu H; Lu, Kun K

Publication Date: 2018-02

Variant appearance in text: MRP4: E757K

PubMed Link: 29429126

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacogenetics of thiopurines for inflammatory bowel disease in East Asia: prospects for clinical application of NUDT15 genotyping.

Journal Of Gastroenterology

Kakuta, Yoichi Y; Kinouchi, Yoshitaka Y; Shimosegawa, Tooru T

Publication Date: 2018-02

Variant appearance in text: rs3765534

PubMed Link: 29192347

Variant Present in the following documents:

• Main text
• 535_2017_Article_1416.pdf

View BVdb publication page

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APEX1 Polymorphism and Mercaptopurine-Related Early Onset Neutropenia in Pediatric Acute Lymphoblastic Leukemia.

Cancer Research And Treatment

Kim, Hyery H; Seo, Heewon H; Park, Yoomi Y; Min, Byung-Joo BJ; Seo, Myung-Eui ME; Park, Kyung Duk KD; Shin, Hee Young HY; Kim, Ju Han JH; Kang, Hyoung Jin HJ

Publication Date: 2018-07

Variant appearance in text: rs3765534

PubMed Link: 28882023

Variant Present in the following documents:

• Main text
• crt-2017-351.pdf

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: ABCC4: E757K; rs3765534

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3765534

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Quantitative Evaluation of Drug Resistance Profile of Cells Expressing Wild-Type or Genetic Polymorphic Variants of the Human ABC Transporter ABCC4.

International Journal Of Molecular Sciences

Tsukamoto, Megumi M; Sato, Shiori S; Satake, Kazuhiro K; Miyake, Mizuki M; Nakagawa, Hiroshi H

Publication Date: 2017-07-04

Variant appearance in text: ABCC4: E757K; rs3765534

PubMed Link: 28677646

Variant Present in the following documents:

• Main text
• ijms-18-01435.pdf

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: ABCC4: Glu757Lys; rs3765534

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Pharmacokinetics and pharmacogenomics of β-lactam-induced neutropenia.

Pharmacogenomics

Hahn, Andrea A; Fukuda, Tsuyoshi T; Hahn, David D; Mizuno, Tomoyuki T; Frenck, Robert W RW; Vinks, Alexander A AA

Publication Date: 2016-04

Variant appearance in text: MRP4: E757K; rs3765534

PubMed Link: 27045542

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3765534

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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The ABCC4 membrane transporter modulates platelet aggregation.

Blood

Cheepala, Satish B SB; Pitre, Aaron A; Fukuda, Yu Y; Takenaka, Kazumasa K; Zhang, Yuanyuan Y; Wang, Yao Y; Frase, Sharon S; Pestina, Tamara T; Gartner, T Kent TK; Jackson, Carl C; Schuetz, John D JD

Publication Date: 2015-11-12

Variant appearance in text: ABCC4: E757K

PubMed Link: 26405223

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCC4: E757K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Personalized Medicine in Gastrointestinal Stromal Tumor (GIST): Clinical Implications of the Somatic and Germline DNA Analysis.

International Journal Of Molecular Sciences

Ravegnini, Gloria G; Nannini, Margherita M; Sammarini, Giulia G; Astolfi, Annalisa A; Biasco, Guido G; Pantaleo, Maria A MA; Hrelia, Patrizia P; Angelini, Sabrina S

Publication Date: 2015-07-09

Variant appearance in text: rs3765534

PubMed Link: 26184165

Variant Present in the following documents:

• Main text
• ijms-16-15592.pdf

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs3765534

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: ABCC4: 2269G>A; E757K; rs3765534

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ABCC4: E757K; rs3765534

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget

Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S

Publication Date: 2014-11-15

Variant appearance in text: ABCC4: 2269G>A; E757K; rs3765534

PubMed Link: 25347344

Variant Present in the following documents:

• oncotarget-05-10596-s002.xlsx, sheet 4

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs3765534

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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