Publications:

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: CYP2A6: R128Q

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Therapeutic and Toxic Effects of Valproic Acid Metabolites.

Metabolites

Shnayder, Natalia A NA; Grechkina, Violetta V VV; Khasanova, Aiperi K AK; Bochanova, Elena N EN; Dontceva, Evgenia A EA; Petrova, Marina M MM; Asadullin, Azat R AR; Shipulin, German A GA; Altynbekov, Kuanysh S KS; Al-Zamil, Mustafa M; Nasyrova, Regina F RF

Publication Date: 2023-01-16

Variant appearance in text: rs4986891

PubMed Link: 36677060

Variant Present in the following documents:

• Main text
• metabolites-13-00134.pdf

View BVdb publication page

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Effects of Genetic Variants in the Nicotine Metabolism Pathway on Smoking Cessation.

Genetics Research

Li, Huijie H; Wang, Qiang Q; Li, Suyun S; Jia, Chongqi C

Publication Date: 2022

Variant appearance in text: CYP2A6: r128q

PubMed Link: 36245555

Variant Present in the following documents:

• GR2022-2917881.pdf

View BVdb publication page

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Association of TLR4 Rs4986791 Polymorphism and TLR9 Haplotypes with Acute Myeloid Leukemia Susceptibility: A Case-Control Study of Adult Patients.

Journal Of Personalized Medicine

Banescu, Claudia C; Tripon, Florin F; Bojan, Anca S AS; Trifa, Adrian P AP; Muntean, Carmen C; Crauciuc, George Andrei GA; Boglis, Alina A; Candea, Marcela M; Lazar, Erzsebet E; Jimbu, Laura L; Iancu, Mihaela M

Publication Date: 2022-03-06

Variant appearance in text: rs4986891

PubMed Link: 35330409

Variant Present in the following documents:

• jpm-12-00409.pdf

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: CYP2A6: R128Q; rs4986891

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Deciphering Structural Alterations Associated with Activity Reductions of Genetic Polymorphisms in Cytochrome P450 2A6 Using Molecular Dynamics Simulations.

International Journal Of Molecular Sciences

Kato, Koichi K; Nakayoshi, Tomoki T; Nokura, Rika R; Hosono, Hiroki H; Hiratsuka, Masahiro M; Ishikawa, Yoshinobu Y; Kurimoto, Eiji E; Oda, Akifumi A

Publication Date: 2021-09-19

Variant appearance in text: CYP2A6: R128Q

PubMed Link: 34576282

Variant Present in the following documents:

• Main text
• ijms-22-10119.pdf

View BVdb publication page

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Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects.

Birth Defects Research

Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Lee, Cecilia C; Lurmann, Fred F; Hammond, S Katharine SK; Shaw, Gary M GM

Publication Date: 2021-05-15

Variant appearance in text: rs4986891

PubMed Link: 33569925

Variant Present in the following documents:

• Main text

View BVdb publication page

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: CYP2A6: R128Q; rs4986891

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Association of genetic polymorphisms CYP2A6*2 rs1801272 and CYP2A6*9 rs28399433 with tobacco-induced lung Cancer: case-control study in an Egyptian population.

Bmc Cancer

Ezzeldin, Nada N; El-Lebedy, Dalia D; Darwish, Amira A; El Bastawisy, Ahmed A; Abd Elaziz, Shereen Hamdy SH; Hassan, Mirhane Mohamed MM; Saad-Hussein, Amal A

Publication Date: 2018-05-03

Variant appearance in text: CYP2A6: R128Q

PubMed Link: 29724170

Variant Present in the following documents:

• 12885_2018_Article_4342.pdf

View BVdb publication page

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Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.

American Journal Of Medical Genetics. Part A

Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Lurmann, Fred F; Hammond, S Katharine SK; Shaw, Gary M GM

Publication Date: 2018-05

Variant appearance in text: rs4986891

PubMed Link: 29681089

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs4986891

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Distribution of polymorphic variants of CYP2A6 and their involvement in nicotine addiction.

Excli Journal

López-Flores, Luis A LA; Pérez-Rubio, Gloria G; Falfán-Valencia, Ramcés R

Publication Date: 2017

Variant appearance in text: CYP2A6: Arg128Gln

PubMed Link: 28507465

Variant Present in the following documents:

• Main text
• EXCLI-16-174.pdf

View BVdb publication page

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Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects.

Clinical Pharmacology And Therapeutics

Zhou, Y Y; Ingelman-Sundberg, M M; Lauschke, V M VM

Publication Date: 2017-10

Variant appearance in text: CYP2A6: R128Q; rs4986891

PubMed Link: 28378927

Variant Present in the following documents:

• Main text
• CPT-102-688.pdf

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: CYP2A6: R128Q; rs4986891

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2
• fpc-27-089-s004.xlsx, sheet 2

View BVdb publication page

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Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.

Bmc Genetics

Iskakova, Aisha N AN; Romanova, Aliya A AA; Aitkulova, Akbota M AM; Sikhayeva, Nurgul S NS; Zholdybayeva, Elena V EV; Ramanculov, Erlan M EM

Publication Date: 2016-01-19

Variant appearance in text: rs4986891

PubMed Link: 26785747

Variant Present in the following documents:

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: rs4986891

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: rs4986891

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

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: rs4986891

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

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Cytochrome p450 metabolism of betel quid-derived compounds: implications for the development of prevention strategies for oral and pharyngeal cancers.

Thescientificworldjournal

Lin, Che-Yi CY; Pan, Tien-Szu TS; Ting, Chun-Chan CC; Liang, Shih-Shin SS; Huang, Shu-Hung SH; Liu, Hsiu-Yueh HY; Ko, Edward Cheng-Chuan EC; Wu, Chung-Wei CW; Tang, Jen-Yang JY; Chen, Ping-Ho PH

Publication Date: 2013

Variant appearance in text: CYP2A6: R128Q

PubMed Link: 23983642

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: CYP2A6: R128Q; rs4986891

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Use of a predictive model derived from in vivo endophenotype measurements to demonstrate associations with a complex locus, CYP2A6.

Human Molecular Genetics

Bloom, A Joseph AJ; Harari, Oscar O; Martinez, Maribel M; Madden, Pamela A F PA; Martin, Nicholas G NG; Montgomery, Grant W GW; Rice, John P JP; Murphy, Sharon E SE; Bierut, Laura J LJ; Goate, Alison A

Publication Date: 2012-07-01

Variant appearance in text: rs4986891

PubMed Link: 22451501

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of catechol-o-methyl transferase gene polymorphism with prostate cancer and benign prostatic hyperplasia.

Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences

Omrani, Mir Davood MD; Bazargani, Soroush S; Bagheri, Morteza M; Yazdan-Nejad, Hamed H

Publication Date: 2009-07

Variant appearance in text: CYP2A6: R128Q

PubMed Link: 21772887

Variant Present in the following documents:

• JRMS-14-217.pdf

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs4986891

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism.

British Journal Of Clinical Pharmacology

Yoshida, Ryoko R; Nakajima, Miki M; Watanabe, Yuki Y; Kwon, Jun-Tack JT; Yokoi, Tsuyoshi T

Publication Date: 2002-11

Variant appearance in text: CYP2A6: R128Q

PubMed Link: 12445030

Variant Present in the following documents:

• Main text

View BVdb publication page

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