Publications:

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Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.

Frontiers In Pharmacology

Parada-Márquez, Juan Fernando JF; Maldonado-Rodriguez, Nicolás David ND; Triana-Fonseca, Paula P; Contreras-Bravo, Nora Constanza NC; Calderón-Ospina, Carlos Alberto CA; Restrepo, Carlos M CM; Morel, Adrien A; Ortega-Recalde, Oscar Javier OJ; Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Fonseca-Mendoza, Dora Janeth DJ

Publication Date: 2023

Variant appearance in text: rs56276455

PubMed Link: 37021041

Variant Present in the following documents:

• Table2.xlsx, sheet 1

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Genetic Biomarkers of Antipsychotic-Induced Prolongation of the QT Interval in Patients with Schizophrenia.

International Journal Of Molecular Sciences

Vaiman, Elena E EE; Shnayder, Natalia A NA; Zhuravlev, Nikita M NM; Petrova, Marina M MM; Asadullin, Azat R AR; Al-Zamil, Mustafa M; Garganeeva, Natalia P NP; Shipulin, German A GA; Cumming, Paul P; Nasyrova, Regina F RF

Publication Date: 2022-12-13

Variant appearance in text: rs56276455

PubMed Link: 36555428

Variant Present in the following documents:

• ijms-23-15786.pdf

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CYP1A2 mRNA Expression Rather than Genetic Variants Indicate Hepatic CYP1A2 Activity.

Pharmaceutics

Fekete, Ferenc F; Mangó, Katalin K; Minus, Annamária A; Tóth, Katalin K; Monostory, Katalin K

Publication Date: 2022-02-27

Variant appearance in text: CYP1A2: D348N

PubMed Link: 35335907

Variant Present in the following documents:

• pharmaceutics-14-00532.pdf

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Genomic alterations and evolution of cell clusters in metastatic invasive micropapillary carcinoma of the breast.

Nature Communications

Shi, Qianqian Q; Shao, Kang K; Jia, Hongqin H; Cao, Boyang B; Li, Weidong W; Dong, Shichen S; Liu, Jian J; Wu, Kailiang K; Liu, Meng M; Liu, Fangfang F; Zhou, Hanlin H; Lv, Jianke J; Gu, Feng F; Li, Luyuan L; Zhu, Shida S; Li, Shuai S; Li, Guibo G; Fu, Li L

Publication Date: 2022-01-10

Variant appearance in text: CYP1A2: 1042G>A; D348N

PubMed Link: 35013309

Variant Present in the following documents:

• 41467_2021_27794_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic alterations and evolution of cell clusters in metastatic invasive micropapillary carcinoma of the breast.

Nature Communications

Shi, Qianqian Q; Shao, Kang K; Jia, Hongqin H; Cao, Boyang B; Li, Weidong W; Dong, Shichen S; Liu, Jian J; Wu, Kailiang K; Liu, Meng M; Liu, Fangfang F; Zhou, Hanlin H; Lv, Jianke J; Gu, Feng F; Li, Luyuan L; Zhu, Shida S; Li, Shuai S; Li, Guibo G; Fu, Li L

Publication Date: 2022-01-10

Variant appearance in text: CYP1A2: 1042G>A; D348N

PubMed Link: 35013309

Variant Present in the following documents:

• 41467_2021_27794_MOESM5_ESM.xlsx, sheet 1

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: CYP1A2: D348N; rs56276455

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Using Pharmacogenetics of Direct Oral Anticoagulants to Predict Changes in Their Pharmacokinetics and the Risk of Adverse Drug Reactions.

Biomedicines

Shnayder, Natalia A NA; Petrova, Marina M MM; Shesternya, Pavel A PA; Savinova, Alina V AV; Bochanova, Elena N EN; Zimnitskaya, Olga V OV; Pozhilenkova, Elena A EA; Nasyrova, Regina F RF

Publication Date: 2021-04-22

Variant appearance in text: rs56276455

PubMed Link: 33922084

Variant Present in the following documents:

• Main text

View BVdb publication page

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In silico screening and analysis of nonsynonymous SNPs in human CYP1A2 to assess possible associations with pathogenicity and cancer susceptibility.

Scientific Reports

Navapour, Leila L; Mogharrab, Navid N

Publication Date: 2021-03-02

Variant appearance in text: CYP1A2: D348N; rs56276455

PubMed Link: 33654112

Variant Present in the following documents:

View BVdb publication page

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How Can Drug Metabolism and Transporter Genetics Inform Psychotropic Prescribing?

Frontiers In Genetics

Carvalho Henriques, Beatriz B; Yang, Esther H EH; Lapetina, Diego D; Carr, Michael S MS; Yavorskyy, Vasyl V; Hague, Joshua J; Aitchison, Katherine J KJ

Publication Date: 2020

Variant appearance in text: CYP1A2: D348N

PubMed Link: 33363564

Variant Present in the following documents:

• fgene-11-491895.pdf

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: CYP1A2: D348N; rs56276455

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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Pharmacogenetic interactions between antiretroviral drugs and vaginally administered hormonal contraceptives.

Pharmacogenetics And Genomics

Haas, David W DW; Cramer, Yoninah S YS; Godfrey, Catherine C; Rosenkranz, Susan L SL; Aweeka, Francesca F; Berzins, Baiba B; Coombs, Robert R; Coughlin, Kristine K; Moran, Laura E LE; Gingrich, David D; Zorrilla, Carmen D CD; Baker, Paxton P; Cohn, Susan E SE; Scarsi, Kimberly K KK; ,

Publication Date: 2020-04

Variant appearance in text: rs56276455

PubMed Link: 32106141

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of protein missense alterations by combining sequence- and structure-based methods.

Molecular Genetics & Genomic Medicine

Gyulkhandanyan, Aram A; Rezaie, Alireza R AR; Roumenina, Lubka L; Lagarde, Nathalie N; Fremeaux-Bacchi, Veronique V; Miteva, Maria A MA; Villoutreix, Bruno O BO

Publication Date: 2020-04

Variant appearance in text: CYP1A2: Asp348Asn

PubMed Link: 32096919

Variant Present in the following documents:

• Main text
• MGG3-8-e1166.pdf

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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: CYP1A2: D348N; rs56276455

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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Genetic polymorphisms of cytochrome P450-1A2 (CYP1A2) among Emiratis.

Plos One

Al-Ahmad, Mohammad M MM; Amir, Naheed N; Dhanasekaran, Subramanian S; John, Anne A; Abdulrazzaq, Yousef M YM; Ali, Bassam R BR; Bastaki, Salim M A SMA

Publication Date: 2017

Variant appearance in text: CYP1A2: D348N; rs56276455

PubMed Link: 28934216

Variant Present in the following documents:

• Main text
• pone.0183424.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: CYP1A2: D348N; rs56276455

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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: rs56276455

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CYP1A2: D348N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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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: rs56276455

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: rs56276455

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

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Activation of aflatoxin B1 by expression of human CYP1A2 polymorphisms in Saccharomyces cerevisiae.

Mutation Research. Genetic Toxicology And Environmental Mutagenesis

Fasullo, Michael M; Smith, Autumn A; Egner, Patricia P; Cera, Cinzia C

Publication Date: 2014-02

Variant appearance in text: CYP1A2: D348N

PubMed Link: 24472830

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathway-Targeted Pharmacogenomics of CYP1A2 in Human Liver.

Frontiers In Pharmacology

Klein, Kathrin K; Winter, Stefan S; Turpeinen, Miia M; Schwab, Matthias M; Zanger, Ulrich M UM

Publication Date: 2010

Variant appearance in text: CYP1A2: D348N; rs56276455

PubMed Link: 21918647

Variant Present in the following documents:

• Main text
• fphar-01-00129.pdf

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Insights into the substrate specificity, inhibitors, regulation, and polymorphisms and the clinical impact of human cytochrome P450 1A2.

The Aaps Journal

Zhou, Shu-Feng SF; Yang, Li-Ping LP; Zhou, Zhi-Wei ZW; Liu, Ya-He YH; Chan, Eli E

Publication Date: 2009-09

Variant appearance in text: CYP1A2: Asp348Asn

PubMed Link: 19590965

Variant Present in the following documents:

• Main text

View BVdb publication page

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