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: rs72552737

PubMed Link: 36344599

Variant Present in the following documents:

• Main text
• 41598_2022_23488_MOESM2_ESM.xlsx, sheet 3
• 41598_2022_23488_MOESM2_ESM.xlsx, sheet 1
• 41598_2022_Article_23488.pdf
• 41598_2022_23488_MOESM2_ESM.xlsx, sheet 2

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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: G144R

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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Thiopurine Drugs in the Treatment of Ulcerative Colitis: Identification of a Novel Deleterious Mutation in TPMT.

Genes

Harmand, Pierre-Olivier PO; Solassol, Jérôme J

Publication Date: 2020-10-16

Variant appearance in text: TPMT: 430G>C

PubMed Link: 33081236

Variant Present in the following documents:

• Main text
• genes-11-01212.pdf

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: rs72552737

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

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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: Gly144Arg

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: rs72552737

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: Gly144Arg; rs72552737

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: Gly144Arg

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: Gly144Arg

PubMed Link: 20154640

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: G144R

PubMed Link: 17243178

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiplex SNP typing by bioluminometric assay coupled with terminator incorporation (BATI).

Nucleic Acids Research

Zhou, Guo-Hua GH; Gotou, Mari M; Kajiyama, Tomoharu T; Kambara, Hideki H

Publication Date: 2005-09-01

Variant appearance in text: TPMT: 430G>C

PubMed Link: 16141191

Variant Present in the following documents:

• Main text

View BVdb publication page

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