Publications:

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Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics

Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N

Publication Date: 2023-01-26

Variant appearance in text: CYP2E1: Phe421Phe; rs2515641

PubMed Link: 36703207

Variant Present in the following documents:

• 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Next-Generation Sequencing and Bioinformatics-Based Protocol for the Full-Length CYP2E1 Gene Polymorphism Analysis.

Pharmacogenomics And Personalized Medicine

Igumnova, Viktorija V; Kivrane, Agnija A; Viksna, Anda A; Norvaisa, Inga I; Ranka, Renate R

Publication Date: 2022

Variant appearance in text: rs2515641

PubMed Link: 36393979

Variant Present in the following documents:

• Main text
• pgpm-15-959.pdf

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: CYP2E1: Phe421Phe; rs2515641

PubMed Link: 36289279

Variant Present in the following documents:

• Main text
• 41598_2022_Article_22914.pdf

View BVdb publication page

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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: CYP2E1: F421F

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

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Association of CYP7A1 and CYP2E1 Polymorphisms with Type 2 Diabetes in the Chinese Han Populations.

Pharmacogenomics And Personalized Medicine

Zhang, Lihong L; Tang, Jingjing J; Wang, Yindi Y; Wang, Xiang X; Wang, Fang F

Publication Date: 2022

Variant appearance in text: CYP2E1: Phe421=; rs2515641

PubMed Link: 36168322

Variant Present in the following documents:

• Main text
• pgpm-15-843.pdf

View BVdb publication page

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The molecular pathogenesis of triptolide-induced hepatotoxicity.

Frontiers In Pharmacology

Hu, Yeqing Y; Wu, Qiguo Q; Wang, Yulin Y; Zhang, Haibo H; Liu, Xueying X; Zhou, Hua H; Yang, Tao T

Publication Date: 2022

Variant appearance in text: rs2515641

PubMed Link: 36091841

Variant Present in the following documents:

• Main text
• fphar-13-979307.pdf

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: CYP2E1: Phe421Phe; rs2515641

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Frontiers In Pharmacology

Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Morel, Adrien A; Niño-Orrego, María José MJ; Ruiz-Torres, Daniel-Armando DA; Contreras Bravo, Nora Constanza NC; Restrepo, Carlos Martin CM; Ortega-Recalde, Oscar O; Fonseca-Mendoza, Dora Janeth DJ

Publication Date: 2022

Variant appearance in text: rs2515641

PubMed Link: 35846994

Variant Present in the following documents:

• Table1.xlsx, sheet 1
• fphar-13-931531.pdf

View BVdb publication page

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Role of Pharmacogenetics in the Treatment of Acute Myeloid Leukemia: Systematic Review and Future Perspectives.

Pharmaceutics

Pinto-Merino, Álvaro Á; Labrador, Jorge J; Zubiaur, Pablo P; Alcaraz, Raquel R; Herrero, María José MJ; Montesinos, Pau P; Abad-Santos, Francisco F; Saiz-Rodríguez, Miriam M

Publication Date: 2022-03-03

Variant appearance in text: rs2515641

PubMed Link: 35335935

Variant Present in the following documents:

• Main text
• pharmaceutics-14-00559.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: CYP2E1: F421F; rs2515641

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: CYP2E1: F421F; rs2515641

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Cord blood acrylamide levels and birth size, and interactions with genetic variants in acrylamide-metabolising genes.

Environmental Health : A Global Access Science Source

Hogervorst, Janneke J; Vesper, Hubert W HW; Madhloum, Narjes N; Gyselaers, Wilfried W; Nawrot, Tim T

Publication Date: 2021-04-01

Variant appearance in text: rs2515641

PubMed Link: 33794901

Variant Present in the following documents:

• Main text
• 12940_2021_Article_715.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: CYP2E1: Phe421Phe; rs2515641

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: CYP2E1: F421F; rs2515641

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Pharmacogenetic Study of Trabectedin-Induced Severe Hepatotoxicity in Patients with Advanced Soft Tissue Sarcoma.

Cancers

Maillard, Maud M; Chevreau, Christine C; Le Louedec, Félicien F; Cassou, Manon M; Delmas, Caroline C; Gourdain, Laure L; Blay, Jean-Yves JY; Cupissol, Didier D; Bompas, Emmanuelle E; Italiano, Antoine A; Isambert, Nicolas N; Delcambre-Lair, Corinne C; Penel, Nicolas N; Bertucci, François F; Guillemet, Cécile C; Plenecassagnes, Julien J; Foulon, Stéphanie S; Chatelut, Étienne É; Le Cesne, Axel A; Thomas, Fabienne F

Publication Date: 2020-12-04

Variant appearance in text: CYP2E: Phe421=; rs2515641

PubMed Link: 33291741

Variant Present in the following documents:

• cancers-12-03647-s001.pdf

View BVdb publication page

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Functional characterization of the chlorzoxazone 6-hydroxylation activity of human cytochrome P450 2E1 allelic variants in Han Chinese.

Peerj

Wang, Ting T; Du, Huihui H; Ma, Jingsong J; Shen, Lu L; Wei, Muyun M; Zhao, Xianglong X; Chen, Luan L; Li, Mo M; Li, Guorong G; Xing, Qinghe Q; He, Lin L; Qin, Shengying S

Publication Date: 2020

Variant appearance in text: rs2515641

PubMed Link: 32821545

Variant Present in the following documents:

• Main text
• peerj-08-9628.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: CYP2E1: F421F; rs2515641

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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A novel patient-derived organoids-based xenografts model for preclinical drug response testing in patients with colorectal liver metastases.

Journal Of Translational Medicine

Jian, Mi M; Ren, Li L; He, Guodong G; Lin, Qi Q; Tang, Wentao W; Chen, Yijiao Y; Chen, Jingwen J; Liu, Tianyu T; Ji, Meiling M; Wei, Ye Y; Chang, Wenju W; Xu, Jianmin J

Publication Date: 2020-06-12

Variant appearance in text: CYP2E1: F421F; rs2515641

PubMed Link: 32532289

Variant Present in the following documents:

• 12967_2020_2407_MOESM2_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: CYP2E1: F421F; rs2515641

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2515641

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Meta-analysis and field synopsis of genetic variants associated with the risk and severity of acute pancreatitis.

Bjs Open

van den Berg, F F FF; Kempeneers, M A MA; van Santvoort, H C HC; Zwinderman, A H AH; Issa, Y Y; Boermeester, M A MA

Publication Date: 2020-02

Variant appearance in text: rs2515641

PubMed Link: 32011822

Variant Present in the following documents:

• BJS5-4-3-s002.xlsx, sheet 2

View BVdb publication page

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Association of Drug Metabolic Enzyme Genetic Polymorphisms and Adverse Drug Reactions in Patients Receiving Rifapentine and Isoniazid Therapy for Latent Tuberculosis.

International Journal Of Environmental Research And Public Health

Yu, Ya-Yen YY; Tsao, Shih-Ming SM; Yang, Wen-Ta WT; Huang, Wei-Chang WC; Lin, Ching-Hsiung CH; Chen, Wei-Wen WW; Yang, Shun-Fa SF; Chiou, Hui-Ling HL; Huang, Yi-Wen YW

Publication Date: 2019-12-27

Variant appearance in text: rs2515641

PubMed Link: 31892222

Variant Present in the following documents:

• Main text
• ijerph-17-00210.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: CYP2E1: Phe421=; rs2515641

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: CYP2E1: F421F; rs2515641

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Metabolomics-based identification of metabolic alterations in PARK2.

Annals Of Clinical And Translational Neurology

Okuzumi, Ayami A; Hatano, Taku T; Ueno, Shin-Ichi SI; Ogawa, Takashi T; Saiki, Shinji S; Mori, Akio A; Koinuma, Takahiro T; Oji, Yutaka Y; Ishikawa, Kei-Ichi KI; Fujimaki, Motoki M; Sato, Shigeto S; Ramamoorthy, Sivapriya S; Mohney, Robert P RP; Hattori, Nobutaka N

Publication Date: 2019-03

Variant appearance in text: CYP2E1: Phe421Phe; rs2515641

PubMed Link: 30911576

Variant Present in the following documents:

• Main text
• ACN3-6-525.pdf

View BVdb publication page

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Analysis of 75 Candidate SNPs Associated With Acute Rejection in Kidney Transplant Recipients: Validation of rs2910164 in MicroRNA MIR146A.

Transplantation

Oetting, William S WS; Schladt, David P DP; Dorr, Casey R CR; Wu, Baolin B; Guan, Weihua W; Remmel, Rory P RP; Iklé, David D; Mannon, Roslyn B RB; Matas, Arthur J AJ; Israni, Ajay K AK; Jacobson, Pamala A PA; ,

Publication Date: 2019-08

Variant appearance in text: rs2515641

PubMed Link: 30801535

Variant Present in the following documents:

• Main text

View BVdb publication page

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Use of Germline Genetic Variability for Prediction of Chemoresistance and Prognosis of Breast Cancer Patients.

Cancers

Hlavac, Viktor V; Kovacova, Maria M; Elsnerova, Katerina K; Brynychova, Veronika V; Kozevnikovova, Renata R; Raus, Karel K; Kopeckova, Katerina K; Mestakova, Sona S; Vrana, David D; Gatek, Jiri J; Ostasov, Pavel P; Vaclavikova, Radka R; Soucek, Pavel P

Publication Date: 2018-12-12

Variant appearance in text: CYP2E1: F421F; rs2515641

PubMed Link: 30545124

Variant Present in the following documents:

• Main text
• cancers-10-00511.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs2515641

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

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: rs2515641

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.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: rs2515641

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Novel human genome variants associated with alcohol use disorders identified in a Lithuanian cohort.

Acta Medica Lituanica

Baronas, Karolis K; Rančelis, Tautvydas T; Pranculis, Aidas A; Domarkienė, Ingrida I; Ambrozaitytė, Laima L; Kučinskas, Vaidutis V

Publication Date: 2018

Variant appearance in text: rs2515641

PubMed Link: 29928152

Variant Present in the following documents:

• Main text
• aml-25-007.pdf

View BVdb publication page

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Polymorphisms of drug-metabolizing enzyme CYP2E1 in Chinese Uygur population.

Medicine

Zhu, Linhao L; He, Yongjun Y; Niu, Fanglin F; Yan, Mengdan M; Li, Jing J; Yuan, Dongya D; Jin, Tianbo T

Publication Date: 2018-02

Variant appearance in text: CYP2E1: Phe421=; rs2515641

PubMed Link: 29443789

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphism analysis of cytochrome P4502E1 (CYP2E1) in a Chinese Tibetan population.

Medicine

Wang, Li L; Ren, Guoxia G; Li, Jingjie J; Zhu, Linhao L; Niu, Fanglin F; Yan, Mengdan M; Li, Jing J; Yuan, Dongya D; Jin, Tianbo T

Publication Date: 2017-11

Variant appearance in text: rs2515641

PubMed Link: 29381998

Variant Present in the following documents:

• Main text
• medi-96-e8855.pdf

View BVdb publication page

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Serum caffeine and metabolites are reliable biomarkers of early Parkinson disease.

Neurology

Fujimaki, Motoki M; Saiki, Shinji S; Li, Yuanzhe Y; Kaga, Naoko N; Taka, Hikari H; Hatano, Taku T; Ishikawa, Kei-Ichi KI; Oji, Yutaka Y; Mori, Akio A; Okuzumi, Ayami A; Koinuma, Takahiro T; Ueno, Shin-Ichi SI; Imamichi, Yoko Y; Ueno, Takashi T; Miura, Yoshiki Y; Funayama, Manabu M; Hattori, Nobutaka N

Publication Date: 2018-01-30

Variant appearance in text: CYP2E1: Phe421Phe; rs2515641

PubMed Link: 29298852

Variant Present in the following documents:

• Main text
• NEUROLOGY2017821272.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: CYP2E1: F421F; rs2515641

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Genetics of acute rejection after kidney transplantation.

Transplant International : Official Journal Of The European Society For Organ Transplantation

Dorr, Casey R CR; Oetting, William S WS; Jacobson, Pamala A PA; Israni, Ajay K AK

Publication Date: 2018-03

Variant appearance in text: CYP2E1: Phe421=

PubMed Link: 29030886

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of MTTP gene variants with pediatric NAFLD: A candidate-gene-based analysis of single nucleotide variations in obese children.

Plos One

Dai, Dongling D; Wen, Feiqiu F; Zhou, Shaoming S; Su, Zhe Z; Liu, Guosheng G; Wang, Mingbang M; Zhou, Jianli J; He, Fusheng F

Publication Date: 2017

Variant appearance in text: CYP2E1: F421F; rs2515641

PubMed Link: 28953935

Variant Present in the following documents:

• pone.0185396.s001.xls, sheet 3
• pone.0185396.s001.xls, sheet 1
• pone.0185396.s001.xls, sheet 2

View BVdb publication page

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Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients.

Translational Psychiatry

Shi, Y Y; Li, M M; Song, C C; Xu, Q Q; Huo, R R; Shen, L L; Xing, Q Q; Cui, D D; Li, W W; Zhao, J J; He, L L; Qin, S S

Publication Date: 2017-07-11

Variant appearance in text: CYP2E1: Phe421Phe; rs2515641

PubMed Link: 28696411

Variant Present in the following documents:

• Main text
• tp2017143a.pdf

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: rs2515641

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: CYP2E1: F421F; rs2515641

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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DMET™ (Drug Metabolism Enzymes and Transporters): a pharmacogenomic platform for precision medicine.

Oncotarget

Arbitrio, Mariamena M; Di Martino, Maria Teresa MT; Scionti, Francesca F; Agapito, Giuseppe G; Guzzi, Pietro Hiram PH; Cannataro, Mario M; Tassone, Pierfrancesco P; Tagliaferri, Pierosandro P

Publication Date: 2016-08-16

Variant appearance in text: rs2515641

PubMed Link: 27304055

Variant Present in the following documents:

• Main text

View BVdb publication page

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Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.

Human Reproduction (Oxford, England)

Tšuiko, O O; Nõukas, M M; Žilina, O O; Hensen, K K; Tapanainen, J S JS; Mägi, R R; Kals, M M; Kivistik, P A PA; Haller-Kikkatalo, K K; Salumets, A A; Kurg, A A

Publication Date: 2016-08

Variant appearance in text: rs2515641

PubMed Link: 27301361

Variant Present in the following documents:

• supp_dew142_dew142supp_table3.pdf

View BVdb publication page

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Disinfection by-products exposure and intra-uterine growth restriction: Do genetic polymorphisms of CYP2E1or deletion of GSTM1 or GSTT1 modify the association?

Environment International

Levallois, Patrick P; Giguère, Yves Y; Nguile-Makao, Molière M; Rodriguez, Manuel M; Campagna, Céline C; Tardif, Robert R; Bureau, Alexandre A

Publication Date: 2016

Variant appearance in text: rs2515641

PubMed Link: 27107227

Variant Present in the following documents:

• Main text

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: CYP2E1: F421F; rs2515641

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: CYP2E1: F421F; rs2515641

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-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: rs2515641

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: CYP2E1: F421F

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Exploring the distribution of genetic markers of pharmacogenomics relevance in Brazilian and Mexican populations.

Plos One

Bonifaz-Peña, Vania V; Contreras, Alejandra V AV; Struchiner, Claudio Jose CJ; Roela, Rosimeire A RA; Furuya-Mazzotti, Tatiane K TK; Chammas, Roger R; Rangel-Escareño, Claudia C; Uribe-Figueroa, Laura L; Gómez-Vázquez, María José MJ; McLeod, Howard L HL; Hidalgo-Miranda, Alfredo A; Parra, Esteban J EJ; Fernández-López, Juan Carlos JC; Suarez-Kurtz, Guilherme G

Publication Date: 2014

Variant appearance in text: rs2515641

PubMed Link: 25419701

Variant Present in the following documents:

• Main text
• pone.0112640.pdf

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: CYP2E1: F421F; rs2515641

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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