Publications:

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Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine

Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA

Publication Date: 2023-01-17

Variant appearance in text: CYP2A6: S29N

PubMed Link: 36652909

Variant Present in the following documents:

• mmc4.xlsx, sheet 6

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Pharmacogenetics of CYP2A6, CYP2B6, and UGT2B7 in the Context of HIV Treatments in African Populations.

Journal Of Personalized Medicine

Ford, Graeme R GR; Niehaus, Antoinette A; Joubert, Fourie F; Pepper, Michael S MS

Publication Date: 2022-12-05

Variant appearance in text: rs28399435

PubMed Link: 36556234

Variant Present in the following documents:

• Main text
• jpm-12-02013.pdf

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: CYP2A6: S29N; rs28399435

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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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: S29N; rs28399435

PubMed Link: 36068297

Variant Present in the following documents:

• Main text
• 41397_2022_Article_288.pdf

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: CYP2A6: S29N; rs28399435

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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CYP2C19 plays a major role in the hepatic N-oxidation of cotinine.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals

Perez-Paramo, Yadira X YX; Watson, Christy J W CJW; Chen, Gang G; Lazarus, Philip P

Publication Date: 2022-02-23

Variant appearance in text: rs28399435

PubMed Link: 35197312

Variant Present in the following documents:

• Main text
• dmd.121.000624.pdf

View BVdb publication page

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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: S29N; rs28399435

PubMed Link: 33932402

Variant Present in the following documents:

• Main text

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Genetic variants in CYP2A6 and UGT1A9 genes associated with urinary nicotine metabolites in young Mexican smokers.

The Pharmacogenomics Journal

Borrego-Soto, Gissela G; Perez-Paramo, Yadira X YX; Chen, Gang G; Santuario-Facio, Sandra K SK; Santos-Guzman, Jesus J; Posadas-Valay, Rodolfo R; Alvarado-Monroy, Fatima M FM; Balderas-Renteria, Isaias I; Medina-Gonzalez, Ramses R; Ortiz-Lopez, Rocio R; Lazarus, Philip P; Rojas-Martinez, Augusto A

Publication Date: 2020-08

Variant appearance in text: rs28399435

PubMed Link: 31959879

Variant Present in the following documents:

• Main text
• 41397_2020_Article_147.pdf

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Genetic polymorphisms of the drug-metabolizing enzyme cytochrome P450 2A6 in a Tibetan Chinese population.

International Journal Of Clinical And Experimental Pathology

Xia, Ridong R; Zhu, Xikai X; Chen, Zhengshuai Z; He, Yongjun Y; Kang, Longli L; Yuan, Dongya D; Jin, Tianbo T; Wang, Li L

Publication Date: 2018

Variant appearance in text: CYP2A6: Ser29Asn; rs28399435

PubMed Link: 31949579

Variant Present in the following documents:

• Main text

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: CYP2A6: S29N; rs28399435

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: CYP2A6: S29N; rs28399435

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Evaluation of a weighted genetic risk score for the prediction of biomarkers of CYP2A6 activity.

Addiction Biology

El-Boraie, Ahmed A; Taghavi, Taraneh T; Chenoweth, Meghan J MJ; Fukunaga, Koya K; Mushiroda, Taisei T; Kubo, Michiaki M; Lerman, Caryn C; Nollen, Nicole L NL; Benowitz, Neal L NL; Tyndale, Rachel F RF

Publication Date: 2020-01

Variant appearance in text: rs28399435

PubMed Link: 30815984

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs28399435

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal

Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM

Publication Date: 2019-04

Variant appearance in text: CYP2A6: S29N; rs28399435

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes.

Nature Communications

Numanagić, Ibrahim I; Malikić, Salem S; Ford, Michael M; Qin, Xiang X; Toji, Lorraine L; Radovich, Milan M; Skaar, Todd C TC; Pratt, Victoria M VM; Berger, Bonnie B; Scherer, Steve S; Sahinalp, S Cenk SC

Publication Date: 2018-02-26

Variant appearance in text: CYP2A6: 86G>A

PubMed Link: 29483503

Variant Present in the following documents:

• 41467_2018_3273_MOESM1_ESM.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: Ser29Asn

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: S29N; rs28399435

PubMed Link: 28378927

Variant Present in the following documents:

• Main text
• CPT-102-688.pdf

View BVdb publication page

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CYP2A6 metabolism in the development of smoking behaviors in young adults.

Addiction Biology

Olfson, Emily E; Bloom, Joseph J; Bertelsen, Sarah S; Budde, John P JP; Breslau, Naomi N; Brooks, Andrew A; Culverhouse, Robert R; Chan, Grace G; Chen, Li-Shiun LS; Chorlian, David D; Dick, Danielle M DM; Edenberg, Howard J HJ; Hartz, Sarah S; Hatsukami, Dorothy D; Hesselbrock, Victor M VM; Johnson, Eric O EO; Kramer, John R JR; Kuperman, Samuel S; Meyers, Jacquelyn L JL; Nurnberger, John J; Porjesz, Bernice B; Saccone, Nancy L NL; Schuckit, Marc A MA; Stitzel, Jerry J; Tischfield, Jay A JA; Rice, John P JP; Goate, Alison A; Bierut, Laura J LJ

Publication Date: 2018-01

Variant appearance in text: rs28399435

PubMed Link: 28032407

Variant Present in the following documents:

• Main text

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: rs28399435

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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A Novel Tobacco Use Phenotype Suggests the 15q25 and 19q13 Loci May be Differentially Associated With Cigarettes per Day and Tobacco-Related Problems.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco

Richmond-Rakerd, Leah S LS; Otto, Jacqueline M JM; Slutske, Wendy S WS; Ehlers, Cindy L CL; Wilhelmsen, Kirk C KC; Gizer, Ian R IR

Publication Date: 2017-04-01

Variant appearance in text: rs28399435

PubMed Link: 27663783

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk.

Cancer Research

Patel, Yesha M YM; Park, Sunghim L SL; Han, Younghun Y; Wilkens, Lynne R LR; Bickeböller, Heike H; Rosenberger, Albert A; Caporaso, Neil N; Landi, Maria Teresa MT; Brüske, Irene I; Risch, Angela A; Wei, Yongyue Y; Christiani, David C DC; Brennan, Paul P; Houlston, Richard R; McKay, James J; McLaughlin, John J; Hung, Rayjean R; Murphy, Sharon S; Stram, Daniel O DO; Amos, Christopher C; Le Marchand, Loïc L

Publication Date: 2016-10-01

Variant appearance in text: rs28399435

PubMed Link: 27488534

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of CYP2A6 activity across racial/ethnic groups with different risks of lung cancer and effect on their smoking intensity.

Carcinogenesis

Park, Sungshim L SL; Tiirikainen, Maarit I MI; Patel, Yesha M YM; Wilkens, Lynne R LR; Stram, Daniel O DO; Le Marchand, Loic L; Murphy, Sharon E SE

Publication Date: 2016-03

Variant appearance in text: rs28399435

PubMed Link: 26818358

Variant Present in the following documents:

• Main text

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: rs28399435

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism.

Plos Genetics

Loukola, Anu A; Buchwald, Jadwiga J; Gupta, Richa R; Palviainen, Teemu T; Hällfors, Jenni J; Tikkanen, Emmi E; Korhonen, Tellervo T; Ollikainen, Miina M; Sarin, Antti-Pekka AP; Ripatti, Samuli S; Lehtimäki, Terho T; Raitakari, Olli O; Salomaa, Veikko V; Rose, Richard J RJ; Tyndale, Rachel F RF; Kaprio, Jaakko J

Publication Date: 2015

Variant appearance in text: CYP2A6: S29N; rs28399435

PubMed Link: 26407342

Variant Present in the following documents:

• Main text
• pgen.1005498.pdf

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: CYP2A6: S29N; rs28399435

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5

View BVdb publication page

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CYP2A6 Longitudinal Effects in Young Smokers.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco

Cannon, Dale S DS; Medina, Tait R TR; Mermelstein, Robin J RJ; Hedeker, Donald D; Bakian, Amanda V AV; Coon, Hilary H; Cook, Edwin H EH; Hamil, Cindy C; Weiss, Robert B RB

Publication Date: 2016-02

Variant appearance in text: CYP2A6: 86G>A; rs28399435

PubMed Link: 25744963

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CYP2A6: S29N; rs28399435

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Beyond cigarettes per day. A genome-wide association study of the biomarker carbon monoxide.

Annals Of The American Thoracic Society

Bloom, A Joseph AJ; Hartz, Sarah M SM; Baker, Timothy B TB; Chen, Li-Shiun LS; Piper, Megan E ME; Fox, Louis L; Martinez, Maribel M; Hatsukami, Dorothy D; Johnson, Eric O EO; Laurie, Cathy C CC; Saccone, Nancy L NL; Goate, Alison A; Bierut, Laura J LJ

Publication Date: 2014-09

Variant appearance in text: CYP2A6: S29N; rs28399435

PubMed Link: 25072098

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.

Plos One

Preissner, Sarah C SC; Hoffmann, Michael F MF; Preissner, Robert R; Dunkel, Mathias M; Gewiess, Andreas A; Preissner, Saskia S

Publication Date: 2013

Variant appearance in text: CYP2A6: S29N; rs28399435

PubMed Link: 24340040

Variant Present in the following documents:

• pone.0082562.s002.xlsx, sheet 1

View BVdb publication page

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A compensatory effect upon splicing results in normal function of the CYP2A6*14 allele.

Pharmacogenetics And Genomics

Bloom, A Joseph AJ; Harari, Oscar O; Martinez, Maribel M; Zhang, Xiaochun X; McDonald, Sandra A SA; Murphy, Sharon E SE; Goate, Alison A

Publication Date: 2013-03

Variant appearance in text: CYP2A6: S29N; rs28399435

PubMed Link: 23292114

Variant Present in the following documents:

• Main text

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: rs28399435

PubMed Link: 22451501

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: S29N; rs28399435

PubMed Link: 21597399

Variant Present in the following documents:

• Main text

View BVdb publication page

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