Publications:

---

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: V389I; rs55897648

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

---

Biochemical Mechanisms Associating Alcohol Use Disorders with Cancers.

Cancers

Rodriguez, Francisco D FD; Coveñas, Rafael R

Publication Date: 2021-07-15

Variant appearance in text: CYP2E1: Val389Ile; rs55897648

PubMed Link: 34298760

Variant Present in the following documents:

• Main text
• cancers-13-03548.pdf

View BVdb publication page

---

Genetic variations in the drug metabolizing enzyme, CYP2E1, among various ethnic populations of Pakistan.

Peerj

Ahmed, Sagheer S; Altaf, Nadeem N; Ejaz, Mahnoor M; Zulfiqar, Zaira Z; Janjua, Kholood K; Festila, Dana D; Cristina, Nicula N

Publication Date: 2020

Variant appearance in text: rs55897648

PubMed Link: 32879799

Variant Present in the following documents:

• Main text
• peerj-08-9721.pdf

View BVdb publication page

---

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: CYP2E1: Val389Ile

PubMed Link: 32821545

Variant Present in the following documents:

• Main text
• peerj-08-9628.pdf

View BVdb publication page

---

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: V389I; rs55897648

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Cytochrome P450 2E1 and its roles in disease.

Chemico-Biological Interactions

Guengerich, F Peter FP

Publication Date: 2020-05-01

Variant appearance in text: CYP2E1: V389I

PubMed Link: 32198084

Variant Present in the following documents:

• Main text

View BVdb publication page

---

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: CYP2E1: V389I

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

---

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: V389I; rs55897648

PubMed Link: 29443789

Variant Present in the following documents:

• Main text
• medi-97-e9970.pdf

View BVdb publication page

---

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: CYP2E1: V389I; rs55897648

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

---

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: CYP2E1: 1165G>A; Val389Ile

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

---

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: V389I; rs55897648

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

---

Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: CYP2E1: V389I; rs55897648

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

---

Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: CYP2E1: V389I; rs55897648

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 10

View BVdb publication page

---

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: rs55897648

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: CYP2E1: V389I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

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: rs55897648

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

---

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: rs55897648

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

---

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs55897648

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

---

Human cytochrome P450 2E1 mutations that alter mitochondrial targeting efficiency and susceptibility to ethanol-induced toxicity in cellular models.

The Journal Of Biological Chemistry

Bansal, Seema S; Anandatheerthavarada, Hindupur K HK; Prabu, Govindaswamy K GK; Milne, Ginger L GL; Martin, Martha V MV; Guengerich, F Peter FP; Avadhani, Narayan G NG

Publication Date: 2013-05-03

Variant appearance in text: CYP2E1: V389I

PubMed Link: 23471973

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Human pharmacogenomic variations and their implications for antifungal efficacy.

Clinical Microbiology Reviews

Meletiadis, Joseph J; Chanock, Stephen S; Walsh, Thomas J TJ

Publication Date: 2006-10

Variant appearance in text: CYP2E1: V389I

PubMed Link: 17041143

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Heterologous expression of human cytochrome P450 2E1 in HepG2 cell line.

World Journal Of Gastroenterology

Zhuge, Jian J; Luo, Ye Y; Yu, Ying-Nian YN

Publication Date: 2003-12

Variant appearance in text: CYP2E1: V389I

PubMed Link: 14669323

Variant Present in the following documents:

• Main text

View BVdb publication page

---