Publications:

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A bioinformatics approach to the identification of novel deleterious mutations of human TPMT through validated screening and molecular dynamics.

Scientific Reports

Saxena, Sidharth S; Krishna Murthy, T P TP; Chandrashekhar, C R CR; Patil, Lavan S LS; Aditya, Abhinav A; Shukla, Rohit R; Yadav, Arvind Kumar AK; Singh, Tiratha Raj TR; Samantaray, Mahesh M; Ramaswamy, Amutha A

Publication Date: 2022-11-07

Variant appearance in text: rs75543815

PubMed Link: 36344599

Variant Present in the following documents:

• 41598_2022_23488_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine.

Blood Cancer Discovery

Wang, Han H; Chan, Kathy Yuen Yee KYY; Cheng, Chi Keung CK; Ng, Margaret H L MHL; Lee, Po Yi PY; Cheng, Frankie Wai Tsoi FWT; Lam, Grace Kee See GKS; Chow, Tin Wai TW; Ha, Shau Yin SY; Chiang, Alan K S AKS; Leung, Wing Hang WH; Leung, Anskar Y H AYH; Wang, Chi Chiu CC; Zhang, Tao T; Zhang, Xiao-Bing XB; So, Chi Chiu CC; Yuen, Yuet Ping YP; Sun, Qiwei Q; Zhang, Chi C; Xu, Yaqun Y; Cheung, John Tak Kit JTK; Ng, Wing Hei WH; Tang, Patrick Ming-Kuen PM; Kang, Wei W; To, Ka-Fai KF; Lee, Wayne Yuk Wai WYW; Wong, Raymond S M RSM; Poon, Ellen Ngar Yun ENY; Zhao, Qi Q; Huang, Junbin J; Chen, Chun C; Yuen, Patrick Man Pan PMP; Li, Chi-Kong CK; Leung, Alex Wing Kwan AWK; Leung, Kam Tong KT

Publication Date: 2022-11-02

Variant appearance in text: TPMT: Y180F

PubMed Link: 35960210

Variant Present in the following documents:

• bcd-22-0011_supplementary_tables_suppst1-st15.xlsx, sheet 10

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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: TPMT: Y180F

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Bmc Cancer

Yang, Yefan Y; Ding, Ying Y; Gong, Yuxi Y; Zhao, Sha S; Li, Mingna M; Li, Xiao X; Song, Guoxin G; Zhai, Boya B; Liu, Jin J; Shao, Yang Y; Zhu, Liuqing L; Pang, Jiaohui J; Ma, Yutong Y; Ou, Qiuxiang Q; Wu, Xue X; Zhang, Zhihong Z

Publication Date: 2022-02-18

Variant appearance in text: TPMT: 539A>T; Y180F

PubMed Link: 35180847

Variant Present in the following documents:

• 12885_2022_9279_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Plos One

Goljan, Ewa E; Abouelhoda, Mohammed M; ElKalioby, Mohamed M MM; Jabaan, Amjad A; Alghithi, Nada N; Meyer, Brian F BF; Monies, Dorota D

Publication Date: 2022

Variant appearance in text: TPMT: Y180F; rs75543815

PubMed Link: 35089958

Variant Present in the following documents:

• Main text
• pone.0263137.pdf
• pone.0263137.s001.xlsx, sheet 1

View BVdb publication page

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Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology

Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X

Publication Date: 2021

Variant appearance in text: TPMT: 539A>T; Y180F

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Journal Of Personalized Medicine

Montaño, Adrián A; Hernández-Sánchez, Jesús J; Forero-Castro, Maribel M; Matorra-Miguel, María M; Lumbreras, Eva E; Miguel, Cristina C; Santos, Sandra S; Ramírez-Maldonado, Valentina V; Fuster, José Luís JL; de Las Heras, Natalia N; García-de Coca, Alfonso A; Sierra, Magdalena M; Dávila, Julio J; de la Fuente, Ignacio I; Olivier, Carmen C; Olazabal, Juan J; Martínez, Joaquín J; Vega-García, Nerea N; González, Teresa T; Hernández-Rivas, Jesús María JM; Benito, Rocío R

Publication Date: 2020-09-21

Variant appearance in text: rs75543815

PubMed Link: 32967112

Variant Present in the following documents:

• jpm-10-00137-s001.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: rs75543815

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 19

View BVdb publication page

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Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clinical Pharmacology And Therapeutics

Sangkuhl, Katrin K; Whirl-Carrillo, Michelle M; Whaley, Ryan M RM; Woon, Mark M; Lavertu, Adam A; Altman, Russ B RB; Carter, Lester L; Verma, Anurag A; Ritchie, Marylyn D MD; Klein, Teri E TE

Publication Date: 2020-01

Variant appearance in text: rs75543815

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

View BVdb publication page

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In Vitro Protein Stability of Two Naturally Occurring Thiopurine S-Methyltransferase Variants: Biophysical Characterization of TPMT*6 and TPMT*8.

Acs Omega

Wennerstrand, Patricia P; Blissing, Annica A; Mårtensson, Lars-Göran LG

Publication Date: 2017-08-31

Variant appearance in text: TPMT: Y180F

PubMed Link: 30023734

Variant Present in the following documents:

• Main text
• ao7b00801.pdf

View BVdb publication page

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Multiplex assessment of protein variant abundance by massively parallel sequencing.

Nature Genetics

Matreyek, Kenneth A KA; Starita, Lea M LM; Stephany, Jason J JJ; Martin, Beth B; Chiasson, Melissa A MA; Gray, Vanessa E VE; Kircher, Martin M; Khechaduri, Arineh A; Dines, Jennifer N JN; Hause, Ronald J RJ; Bhatia, Smita S; Evans, William E WE; Relling, Mary V MV; Yang, Wenjian W; Shendure, Jay J; Fowler, Douglas M DM

Publication Date: 2018-06

Variant appearance in text: TPMT: Tyr180Phe

PubMed Link: 29785012

Variant Present in the following documents:

View BVdb publication page

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Predictive role of NUDT15 variants on thiopurine-induced myelotoxicity in Asian inflammatory bowel disease patients.

Pharmacogenomics

Sutiman, Natalia N; Chen, Sylvia S; Ling, Khoon Lin KL; Chuah, Sai Wei SW; Leong, Wai Fook WF; Nadiger, Vinayak V; Tjai, Madeline M; Choon Kong, Chris San CS; Schwender, Brian John BJ; Chan, Webber W; Shim, Hang Hock HH; Lim, Wee Chian WC; Khor, Chiea Chuen CC; Cheung, Yin Bun YB; Chowbay, Balram B

Publication Date: 2018-01

Variant appearance in text: TPMT: 539A>T; Tyr180Phe; rs75543815

PubMed Link: 29210335

Variant Present in the following documents:

• Main text

View BVdb publication page

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Measurements of 6-thioguanine nucleotide levels with TPMT and NUDT15 genotyping in patients with Crohn's disease.

Plos One

Lee, Ji Hyeon JH; Kim, Tae Jun TJ; Kim, Eun Ran ER; Hong, Sung Noh SN; Chang, Dong Kyung DK; Choi, Li-Hwa LH; Woo, Hye In HI; Lee, Soo-Youn SY; Kim, Young-Ho YH

Publication Date: 2017

Variant appearance in text: rs75543815

PubMed Link: 29206869

Variant Present in the following documents:

• Main text
• pone.0188925.pdf

View BVdb publication page

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Thiopurine S-Methyltransferase Polymorphisms in Korean Dermatologic Patients.

Annals Of Dermatology

Lee, Minseok M; Seo, Jimyung J; Bang, Dongsik D; Kim, Do Young DY

Publication Date: 2017-10

Variant appearance in text: TPMT: 539A>T; Tyr180Phe

PubMed Link: 28966507

Variant Present in the following documents:

• Main text
• ad-29-529.pdf

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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: rs75543815

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TPMT: Y180F

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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: TPMT: Y180F; rs75543815

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: TPMT: Y180F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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: TPMT: Y180F; rs75543815

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: rs75543815

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes.

Frontiers In Genetics

Almoguera, Berta B; Vazquez, Lyam L; Connolly, John J JJ; Bradfield, Jonathan J; Sleiman, Patrick P; Keating, Brendan B; Hakonarson, Hakon H

Publication Date: 2014

Variant appearance in text: rs75543815

PubMed Link: 24860591

Variant Present in the following documents:

• Main text
• fgene-05-00096.pdf

View BVdb publication page

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Validation of new allele-specific real-time PCR system for thiopurine methyltransferase genotyping in Korean population.

Biomed Research International

Kim, Sollip S; Lee, Hye Won HW; Lee, Woochang W; Chun, Sail S; Min, Won-Ki WK

Publication Date: 2013

Variant appearance in text: TPMT: 539A>T; Tyr180Phe

PubMed Link: 23555080

Variant Present in the following documents:

• Main text
• BMRI2013-305704.pdf

View BVdb publication page

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Nomenclature for alleles of the thiopurine methyltransferase gene.

Pharmacogenetics And Genomics

Appell, Malin L ML; Berg, Jonathan J; Duley, John J; Evans, William E WE; Kennedy, Martin A MA; Lennard, Lynne L; Marinaki, Tony T; McLeod, Howard L HL; Relling, Mary V MV; Schaeffeler, Elke E; Schwab, Matthias M; Weinshilboum, Richard R; Yeoh, Allen E J AE; McDonagh, Ellen M EM; Hebert, Joan M JM; Klein, Teri E TE; Coulthard, Sally A SA

Publication Date: 2013-04

Variant appearance in text: TPMT: Tyr180Phe; rs75543815

PubMed Link: 23407052

Variant Present in the following documents:

• Main text

View BVdb publication page

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Thiopurine S-methyltransferase alleles, TPMT(*)2, (*)3B and (*)3C, and genotype frequencies in an Indian population.

Experimental And Therapeutic Medicine

Murugesan, Raju R; Vahab, Saadi Abdul SA; Patra, Satyajit S; Rao, Rekha R; Rao, Jyothi J; Rai, Padmalatha P; Gopinath, P M PM; Satyamoorthy, Kapaettu K

Publication Date: 2010-01

Variant appearance in text: TPMT: Tyr180phe

PubMed Link: 23136604

Variant Present in the following documents:

• Main text

View BVdb publication page

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Very important pharmacogene summary: thiopurine S-methyltransferase.

Pharmacogenetics And Genomics

Wang, Liewei L; Pelleymounter, Linda L; Weinshilboum, Richard R; Johnson, Julie A JA; Hebert, Joan M JM; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2010-06

Variant appearance in text: TPMT: Tyr180Phe

PubMed Link: 20154640

Variant Present in the following documents:

• Main text

View BVdb publication page

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Four human thiopurine s-methyltransferase alleles severely affect protein structure and dynamics.

Journal Of Molecular Biology

Rutherford, Karen K; Daggett, Valerie V

Publication Date: 2008-06-13

Variant appearance in text: TPMT: Y180F

PubMed Link: 18482735

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural basis of allele variation of human thiopurine-S-methyltransferase.

Proteins

Wu, Hong H; Horton, John R JR; Battaile, Kevin K; Allali-Hassani, Abdellah A; Martin, Fernando F; Zeng, Hong H; Loppnau, Peter P; Vedadi, Masoud M; Bochkarev, Alexey A; Plotnikov, Alexander N AN; Cheng, Xiaodong X

Publication Date: 2007-04-01

Variant appearance in text: TPMT: Y180F

PubMed Link: 17243178

Variant Present in the following documents:

• Main text

View BVdb publication page

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Thiopurine S-methyltransferase genetic polymorphism in the Thai population.

British Journal Of Clinical Pharmacology

Srimartpirom, Somrudee S; Tassaneeyakul, Wongwiwat W; Kukongviriyapan, Veerapol V; Tassaneeyakul, Wichittra W

Publication Date: 2004-07

Variant appearance in text: TPMT: Tyr180Phe

PubMed Link: 15206995

Variant Present in the following documents:

• Main text

View BVdb publication page

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