Publications:

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Genetic variations in relation to bleeding and pharmacodynamics of dabigatran in Chinese patients with nonvalvular atrial fibrillation: A nationwide multicentre prospective cohort study.

Clinical And Translational Medicine

Xiang, Qian Q; Xie, Qiufen Q; Liu, Zhiyan Z; Mu, Guangyan G; Zhang, Hanxu H; Zhou, Shuang S; Wang, Zhe Z; Wang, Zining Z; Zhang, Yatong Y; Zhao, Zinan Z; Yuan, Dongdong D; Guo, Liping L; Wang, Na N; Xiang, Jing J; Song, Hongtao H; Sun, Jianjun J; Jiang, Jie J; Cui, Yimin Y

Publication Date: 2022-12

Variant appearance in text: rs8192720

PubMed Link: 36453946

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparison of genetic susceptibility to lung adenocarcinoma and squamous cell carcinoma in Japanese patients using a novel panel for cancer-related drug-metabolizing enzyme genes.

Scientific Reports

Ohnami, Sumiko S; Naruoka, Akane A; Isaka, Mitsuhiro M; Mizuguchi, Maki M; Nakatani, Sou S; Kamada, Fukumi F; Shimoda, Yuji Y; Sakai, Ai A; Ohshima, Keiichi K; Hatakeyama, Keiichi K; Maruyama, Kouji K; Ohde, Yasuhisa Y; Kenmotsu, Hirotsugu H; Takahashi, Toshiaki T; Akiyama, Yasuto Y; Nagashima, Takeshi T; Urakami, Kenichi K; Ohnami, Shumpei S; Yamaguchi, Ken K

Publication Date: 2022-10-26

Variant appearance in text: rs8192720

PubMed Link: 36289279

Variant Present in the following documents:

• Main text
• 41598_2022_Article_22914.pdf

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: CYP2A6: L8L

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: CYP2A6: L8L

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.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: rs8192720

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.

Clinical And Translational Science

El-Boraie, Ahmed A; Tanner, Julie-Anne JA; Zhu, Andy Z X AZX; Claw, Katrina G KG; Prasad, Bhagwat B; Schuetz, Erin G EG; Thummel, Kenneth E KE; Fukunaga, Koya K; Mushiroda, Taisei T; Kubo, Michiaki M; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF

Publication Date: 2021-09-03

Variant appearance in text: rs8192720

PubMed Link: 34476898

Variant Present in the following documents:

• CTS-15-204-s001.pdf

View BVdb publication page

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Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.

Clinical And Translational Science

El-Boraie, Ahmed A; Tanner, Julie-Anne JA; Zhu, Andy Z X AZX; Claw, Katrina G KG; Prasad, Bhagwat B; Schuetz, Erin G EG; Thummel, Kenneth E KE; Fukunaga, Koya K; Mushiroda, Taisei T; Kubo, Michiaki M; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF

Publication Date: 2022-01

Variant appearance in text: rs8192720

PubMed Link: 34476898

Variant Present in the following documents:

• CTS-15-204-s001.pdf

View BVdb publication page

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Genetic Variants in Smoking-Related Genes in Two Smoking Cessation Programs: A Cross-Sectional Study.

International Journal Of Environmental Research And Public Health

Pérez-Rubio, Gloria G; López-Flores, Luis Alberto LA; Cupertino, Ana Paula AP; Cartujano-Barrera, Francisco F; Reynales-Shigematsu, Luz Myriam LM; Ramírez, Mariana M; Ellerbeck, Edward F EF; Rodríguez-Bolaños, Rosibel R; Falfan-Valencia, Ramcés R

Publication Date: 2021-06-19

Variant appearance in text: rs8192720

PubMed Link: 34205269

Variant Present in the following documents:

• Main text
• ijerph-18-06597.pdf

View BVdb publication page

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: CYP2A6: L8L

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 19
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 24
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

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: rs8192720

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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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: CYP2A6: L8L; rs8192720

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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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: Leu8=; rs8192720

PubMed Link: 31949579

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: CYP2A6: 22C>T; rs8192720

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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: rs8192720

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: CYP2A6: 22C>T; L8L; rs8192720

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs8192720

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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: rs8192720

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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: rs8192720

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: rs8192720

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: rs8192720

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1
• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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