Publications:

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The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.

The Pharmacogenomics Journal

Zhou, Yitian Y; Lauschke, Volker M VM

Publication Date: 2022-12

Variant appearance in text: CYP2A6: E419D; rs8192730

PubMed Link: 36068297

Variant Present in the following documents:

• Main text
• 41397_2022_Article_288.pdf

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: CYP2A6: 1257G>C

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

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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: E419D; rs8192730

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

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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: E419D

PubMed Link: 34576282

Variant Present in the following documents:

• Main text
• ijms-22-10119.pdf

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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: CYP2A6: 1257G>C; E419D

PubMed Link: 34221970

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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Biochemistry of nicotine metabolism and its relevance to lung cancer.

The Journal Of Biological Chemistry

Murphy, Sharon E SE

Publication Date: 2021

Variant appearance in text: CYP2A6: E419D; rs8192730

PubMed Link: 33932402

Variant Present in the following documents:

• Main text

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Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.

Antimicrobial Agents And Chemotherapy

Pernaute-Lau, Leyre L; Adegnika, Ayola Akim AA; Zhou, Yitian Y; Zinsou, Jeannot F JF; Gil, Jose Pedro JP; Krishna, Sanjeev S; Kremsner, Peter G PG; Lauschke, Volker M VM; Velavan, Thirumalaisamy P TP

Publication Date: 2021-06-17

Variant appearance in text: CYP2A6: E419D; rs8192730

PubMed Link: 33875422

Variant Present in the following documents:

• Main text

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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: E419D; rs8192730

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

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Variation in CYP2A6 Activity and Personalized Medicine.

Journal Of Personalized Medicine

Tanner, Julie-Anne JA; Tyndale, Rachel F RF

Publication Date: 2017-12-01

Variant appearance in text: CYP2A6: E419D

PubMed Link: 29194389

Variant Present in the following documents:

• Main text
• jpm-07-00018.pdf

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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: Glu419Asp

PubMed Link: 28507465

Variant Present in the following documents:

• Main text
• EXCLI-16-174.pdf

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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: E419D; rs8192730

PubMed Link: 28378927

Variant Present in the following documents:

• Main text
• CPT-102-688.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: CYP2A6: E419D; rs8192730

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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CYP2A6 genotyping methods and strategies using real-time and end point PCR platforms.

Pharmacogenomics

Wassenaar, Catherine A CA; Zhou, Qian Q; Tyndale, Rachel F RF

Publication Date: 2016

Variant appearance in text: rs8192730

PubMed Link: 26670214

Variant Present in the following documents:

• Main text

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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: rs8192730

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: rs8192730

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

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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: rs8192730

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

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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: rs8192730

PubMed Link: 22451501

Variant Present in the following documents:

• Main text

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The contribution of common CYP2A6 alleles to variation in nicotine metabolism among European-Americans.

Pharmacogenetics And Genomics

Bloom, Joseph J; Hinrichs, Anthony L AL; Wang, Jen C JC; von Weymarn, Linda B LB; Kharasch, Evan D ED; Bierut, Laura J LJ; Goate, Alison A; Murphy, Sharon E SE

Publication Date: 2011-07

Variant appearance in text: CYP2A6: E419D; rs8192730

PubMed Link: 21597399

Variant Present in the following documents:

• Main text

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Hepatic CYP2A6 levels and nicotine metabolism: impact of genetic, physiological, environmental, and epigenetic factors.

European Journal Of Clinical Pharmacology

Al Koudsi, Nael N; Hoffmann, Ewa B EB; Assadzadeh, Abbas A; Tyndale, Rachel F RF

Publication Date: 2010-03

Variant appearance in text: CYP2A6: E419D

PubMed Link: 20012030

Variant Present in the following documents:

• Main text

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