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: rs115106679

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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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: E114K

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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Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Frontiers In Oncology

Zhang, Shirong S; Xu, Yang Y; Zhao, Pan P; Bao, Hua H; Wang, Xiyong X; Liu, Rui R; Xu, Rujun R; Xiang, Jingjing J; Jiang, Hong H; Yan, Junrong J; Wu, Xue X; Shao, Yang Y; Liang, Jiafeng J; Wu, Qiong Q; Zhang, Zhihao Z; Lu, Shun S; Ma, Shenglin S

Publication Date: 2021

Variant appearance in text: TPMT: 340G>A; E114K

PubMed Link: 34221970

Variant Present in the following documents:

• Table_3.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: 340G>A; Glu114Lys

PubMed Link: 33081236

Variant Present in the following documents:

• Main text
• genes-11-01212.pdf

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: rs115106679

PubMed Link: 32967112

Variant Present in the following documents:

• jpm-10-00137-s001.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: TPMT: E114K

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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: rs115106679

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: E114K

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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: Glu114Lys; rs115106679

PubMed Link: 23407052

Variant Present in the following documents:

• Main text

View BVdb publication page

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Thiopurine methyltransferase genotype-phenotype discordance and thiopurine active metabolite formation in childhood acute lymphoblastic leukaemia.

British Journal Of Clinical Pharmacology

Lennard, Lynne L; Cartwright, Cher Suzanne CS; Wade, Rachel R; Richards, Susan M SM; Vora, Ajay A

Publication Date: 2013-07

Variant appearance in text: TPMT: Glu114Lys; rs115106679

PubMed Link: 23252716

Variant Present in the following documents:

• Main text

View BVdb publication page

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