Publications:

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Effect of polymorphisms in drug metabolism and transportation on plasma concentration of atorvastatin and its metabolites in patients with chronic kidney disease.

Frontiers In Pharmacology

Jiang, Zebin Z; Wu, Zemin Z; Liu, Ruixue R; Du, Qin Q; Fu, Xian X; Li, Min M; Kuang, Yongjun Y; Lin, Shen S; Wu, Jiaxuan J; Xie, Weiji W; Shi, Ganggang G; Peng, Yanqiang Y; Zheng, Fuchun F

Publication Date: 2023

Variant appearance in text: rs2274407

PubMed Link: 36923356

Variant Present in the following documents:

• Main text
• fphar-14-1102810.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: ABCC4: K304K

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs2274407

PubMed Link: 34703277

Variant Present in the following documents:

• Main text
• pgpm-14-1315.pdf

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: rs2274407

PubMed Link: 34442427

Variant Present in the following documents:

• Main text
• jpm-11-00783.pdf

View BVdb publication page

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Pharmacogenetics of tenofovir and emtricitabine penetration into cerebrospinal fluid.

Southern African Journal Of Hiv Medicine

Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; Wiesner, Lubbe L; Joska, John A JA; Haas, David W DW; Maartens, Gary G

Publication Date: 2021

Variant appearance in text: rs2274407

PubMed Link: 34007475

Variant Present in the following documents:

• Main text

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: rs2274407

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: rs2274407

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Panel-based next-generation sequencing facilitates the characterization of childhood acute myeloid leukemia in clinical settings.

Biomedical Reports

Ishida, Hisashi H; Iguchi, Akihiro A; Aoe, Michinori M; Nishiuchi, Ritsuo R; Matsubara, Takehiro T; Keino, Dai D; Sanada, Masashi M; Shimada, Akira A

Publication Date: 2020-11

Variant appearance in text: rs2274407

PubMed Link: 32934818

Variant Present in the following documents:

• Supplementary_Data.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: rs2274407

PubMed Link: 32848445

Variant Present in the following documents:

• Main text
• pgpm-13-295.pdf

View BVdb publication page

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Genetics of blood malignancies among Iranian population: an overview.

Diagnostic Pathology

Ghayour-Mobarhan, Majid M; Zangouei, Amir Sadra AS; Hosseinirad, Seyed Mohammad SM; Mojarrad, Majid M; Moghbeli, Meysam M

Publication Date: 2020-05-06

Variant appearance in text: rs2274407

PubMed Link: 32375828

Variant Present in the following documents:

• Main text
• 13000_2020_Article_968.pdf

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: rs2274407

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: rs2274407

PubMed Link: 32021383

Variant Present in the following documents:

• Main text
• pgpm-13-1.pdf

View BVdb publication page

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Drug Resistance Biomarkers and Their Clinical Applications in Childhood Acute Lymphoblastic Leukemia.

Frontiers In Oncology

Aberuyi, Narges N; Rahgozar, Soheila S; Ghodousi, Elaheh Sadat ES; Ghaedi, Kamran K

Publication Date: 2019

Variant appearance in text: rs2274407

PubMed Link: 32010613

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of NR1I2, adenosine triphosphate-binding cassette transporters genetic polymorphisms on the pharmacokinetics of ginsenoside compound K in healthy Chinese volunteers.

Journal Of Ginseng Research

Zhou, Luping L; Chen, Lulu L; Wang, Yaqin Y; Huang, Jie J; Yang, Guoping G; Tan, Zhirong Z; Wang, Yicheng Y; Liao, Jianwei J; Zhou, Gan G; Hu, Kai K; Li, Zhenyu Z; Ouyang, Dongsheng D

Publication Date: 2019-07

Variant appearance in text: rs2274407

PubMed Link: 31308818

Variant Present in the following documents:

• Main text
• main.pdf

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: rs2274407

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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Pathway genes and metabolites in thiopurine therapy in Korean children with acute lymphoblastic leukaemia.

British Journal Of Clinical Pharmacology

Choi, Rihwa R; Sohn, Insuk I; Kim, Min-Ji MJ; Woo, Hye In HI; Lee, Ji Won JW; Ma, Youngeun Y; Yi, Eun Sang ES; Koo, Hong Hoe HH; Lee, Soo-Youn SY

Publication Date: 2019-07

Variant appearance in text: rs2274407

PubMed Link: 30927276

Variant Present in the following documents:

• Main text

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs2274407

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2274407

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Pharmacogenetics and pharmacokinetics of CNS penetration of efavirenz and its metabolites.

The Journal Of Antimicrobial Chemotherapy

Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; van Zyl, Gert U GU; Wiesner, Lubbe L; Khoo, Saye S; Joska, John A JA; Haas, David W DW; Maartens, Gary G

Publication Date: 2019-03-01

Variant appearance in text: rs2274407

PubMed Link: 30535366

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development and validation of a prognostic multivariable model to predict insufficient clinical response to methotrexate in rheumatoid arthritis.

Plos One

de Rotte, Maurits C F J MCFJ; Pluijm, Saskia M F SMF; de Jong, Pascal H P PHP; Bulatović Ćalasan, Maja M; Wulffraat, Nico M NM; Weel, Angelique E A M AEAM; Lindemans, Jan J; Hazes, J M W JMW; de Jonge, Robert R

Publication Date: 2018

Variant appearance in text: rs2274407

PubMed Link: 30532219

Variant Present in the following documents:

• Main text
• pone.0208534.pdf

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: rs2274407

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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: rs2274407

PubMed Link: 28882023

Variant Present in the following documents:

• Main text
• crt-2017-351.pdf

View BVdb publication page

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Population-Specific Resequencing Associates the ATP-Binding Cassette Subfamily C Member 4 Gene With Gout in New Zealand Māori and Pacific Men.

Arthritis & Rheumatology (Hoboken, N.J.)

Tanner, Callum C; Boocock, James J; Stahl, Eli A EA; Dobbyn, Amanda A; Mandal, Asim K AK; Cadzow, Murray M; Phipps-Green, Amanda J AJ; Topless, Ruth K RK; Hindmarsh, Jennie Harré JH; Stamp, Lisa K LK; Dalbeth, Nicola N; Choi, Hyon K HK; Mount, David B DB; Merriman, Tony R TR

Publication Date: 2017-07

Variant appearance in text: rs2274407

PubMed Link: 28371506

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: rs2274407

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: rs2274407

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Prediction of methotrexate intolerance in juvenile idiopathic arthritis: a prospective, observational cohort study.

Pediatric Rheumatology Online Journal

van Dijkhuizen, Evert Hendrik Pieter EH; Bulatović Ćalasan, Maja M; Pluijm, Saskia M F SM; de Rotte, Maurits C F J MC; Vastert, Sebastiaan J SJ; Kamphuis, Sylvia S; de Jonge, Robert R; Wulffraat, Nico M NM

Publication Date: 2015

Variant appearance in text: rs2274407

PubMed Link: 25745368

Variant Present in the following documents:

• Main text
• 12969_2015_Article_2.pdf

View BVdb publication page

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The role of drug transporters in the kidney: lessons from tenofovir.

Frontiers In Pharmacology

Moss, Darren M DM; Neary, Megan M; Owen, Andrew A

Publication Date: 2014

Variant appearance in text: rs2274407

PubMed Link: 25426075

Variant Present in the following documents:

• Main text
• fphar-05-00248.pdf

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: rs2274407

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs2274407

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Association of ABCC2 -24C>T polymorphism with high-dose methotrexate plasma concentrations and toxicities in childhood acute lymphoblastic leukemia.

Plos One

Liu, Yan Y; Yin, You Y; Sheng, Qi Q; Lu, Xiaotong X; Wang, Fang F; Lin, Zhiyan Z; Tian, Huaiping H; Xu, Ajing A; Zhang, Jian J

Publication Date: 2014

Variant appearance in text: rs2274407

PubMed Link: 24404132

Variant Present in the following documents:

• Main text
• pone.0082681.pdf

View BVdb publication page

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Concordance of DMET plus genotyping results with those of orthogonal genotyping methods.

Clinical Pharmacology And Therapeutics

Fernandez, C A CA; Smith, C C; Yang, W W; Lorier, R R; Crews, K R KR; Kornegay, N N; Hicks, J K JK; Stewart, C F CF; Kawedia, J D JD; Ramsey, L B LB; Liu, C C; Evans, W E WE; Relling, M V MV; Broeckel, U U

Publication Date: 2012-09

Variant appearance in text: rs2274407

PubMed Link: 22871999

Variant Present in the following documents:

• Main text

View BVdb publication page

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PharmGKB summary: methotrexate pathway.

Pharmacogenetics And Genomics

Mikkelsen, Torben S TS; Thorn, Caroline F CF; Yang, Jun J JJ; Ulrich, Cornelia M CM; French, Deborah D; Zaza, Gianluigi G; Dunnenberger, Henry M HM; Marsh, Sharon S; McLeod, Howard L HL; Giacomini, Kathy K; Becker, Mara L ML; Gaedigk, Roger R; Leeder, James Steven JS; Kager, Leo L; Relling, Mary V MV; Evans, William W; Klein, Teri E TE; Altman, Russ B RB

Publication Date: 2011-10

Variant appearance in text: rs2274407

PubMed Link: 21317831

Variant Present in the following documents:

• Main text

View BVdb publication page

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