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: rs74423290

PubMed Link: 36344599

Variant Present in the following documents:

• Main text
• 41598_2022_23488_MOESM2_ESM.xlsx, sheet 1
• 41598_2022_23488_MOESM2_ESM.xlsx, sheet 3
• 41598_2022_Article_23488.pdf

View BVdb publication page

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: TPMT: A167G

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 12

View BVdb publication page

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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: A167G

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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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: TPMT: A167G

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier.

British Journal Of Cancer

Zhou, Yitian Y; Dagli Hernandez, Carolina C; Lauschke, Volker M VM

Publication Date: 2020-12

Variant appearance in text: TPMT: A167G; rs74423290

PubMed Link: 32973300

Variant Present in the following documents:

• 41416_2020_1084_MOESM1_ESM.xlsx, sheet 1

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: rs74423290

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: A167G

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: Ala167Gly

PubMed Link: 29785012

Variant Present in the following documents:

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: rs74423290

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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: Ala167Gly; rs74423290

PubMed Link: 23407052

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: Ala167Gly

PubMed Link: 20154640

Variant Present in the following documents:

• Main text

View BVdb publication page

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