Publications:

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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: NAT1: 459G>A; T153T; rs4986990

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: NAT1: T153T; rs4986990

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: NAT1: T153T; rs4986990

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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: NAT1: 459G>A; T153T; rs4986990

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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Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut

Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J

Publication Date: 2020-08

Variant appearance in text: rs4986990

PubMed Link: 31818908

Variant Present in the following documents:

• gutjnl-2019-319313supp002.pdf

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: NAT1: T153T; rs4986990

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Functional expression of human arylamine N-acetyltransferase NAT1*10 and NAT1*11 alleles: a mini review.

Pharmacogenetics And Genomics

Hein, David W DW; Fakis, Giannoulis G; Boukouvala, Sotiria S

Publication Date: 2018-10

Variant appearance in text: NAT1: 459G>A; Thr153=; rs4986990

PubMed Link: 30222709

Variant Present in the following documents:

• Main text

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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: rs4986990

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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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: NAT1: T153T; rs4986990

PubMed Link: 29221171

Variant Present in the following documents:

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

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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: NAT1: 459G>A; T153T; rs4986990

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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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: rs4986990

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: N/A

PubMed Link: 25496518

Variant Present in the following documents:

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: NAT1: T153T; rs4986990

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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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: rs4986990

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: NAT1: 459G>A; T153T; rs4986990

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants in carcinogen-metabolizing enzymes, cigarette smoking and pancreatic cancer risk.

Carcinogenesis

Jang, Ji-Hyun JH; Cotterchio, Michelle M; Borgida, Ayelet A; Gallinger, Steven S; Cleary, Sean P SP

Publication Date: 2012-04

Variant appearance in text: NAT1: T153T; rs4986990

PubMed Link: 22301281

Variant Present in the following documents:

• Main text

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Human N-acetyltransferase 1 *10 and *11 alleles increase protein expression through distinct mechanisms and associate with sulfamethoxazole-induced hypersensitivity.

Pharmacogenetics And Genomics

Wang, Danxin D; Para, Michael F MF; Koletar, Susan L SL; Sadee, Wolfgang W

Publication Date: 2011-10

Variant appearance in text: NAT1: T153T; rs4986990

PubMed Link: 21878835

Variant Present in the following documents:

• Main text

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Functional effects of genetic polymorphisms in the N-acetyltransferase 1 coding and 3' untranslated regions.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Zhu, Yuanqi Y; States, J Christopher JC; Wang, Yang Y; Hein, David W DW

Publication Date: 2011-02

Variant appearance in text: NAT1: T153T; rs4986990

PubMed Link: 21290563

Variant Present in the following documents:

• Main text

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Cigarette smoking, genetic variants in carcinogen-metabolizing enzymes, and colorectal cancer risk.

American Journal Of Epidemiology

Cleary, Sean P SP; Cotterchio, Michelle M; Shi, Ellen E; Gallinger, Steven S; Harper, Patricia P

Publication Date: 2010-11-01

Variant appearance in text: NAT1: 459G>A; rs4986990

PubMed Link: 20937634

Variant Present in the following documents:

• Main text

View BVdb publication page

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N-acetyltransferase SNPs: emerging concepts serve as a paradigm for understanding complexities of personalized medicine.

Expert Opinion On Drug Metabolism & Toxicology

Hein, David W DW

Publication Date: 2009-04

Variant appearance in text: NAT1: T153T

PubMed Link: 19379125

Variant Present in the following documents:

• Main text

View BVdb publication page

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Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Cotterchio, Michelle M; Boucher, Beatrice A BA; Manno, Michael M; Gallinger, Steven S; Okey, Allan B AB; Harper, Patricia A PA

Publication Date: 2008-11

Variant appearance in text: rs4986990

PubMed Link: 18990750

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs4986990

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling.

Nucleic Acids Research

Till, Bradley J BJ; Zerr, Troy T; Bowers, Elisabeth E; Greene, Elizabeth A EA; Comai, Luca L; Henikoff, Steven S

Publication Date: 2006-08-07

Variant appearance in text: NAT1: T153=

PubMed Link: 16893952

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.

American Journal Of Human Genetics

Patin, Etienne E; Barreiro, Luis B LB; Sabeti, Pardis C PC; Austerlitz, Frédéric F; Luca, Francesca F; Sajantila, Antti A; Behar, Doron M DM; Semino, Ornella O; Sakuntabhai, Anavaj A; Guiso, Nicole N; Gicquel, Brigitte B; McElreavey, Ken K; Harding, Rosalind M RM; Heyer, Evelyne E; Quintana-Murci, Lluis L

Publication Date: 2006-03

Variant appearance in text: rs4986990

PubMed Link: 16416399

Variant Present in the following documents:

• Main text

View BVdb publication page

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