Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1042640

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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SNPs in 3'UTR miRNA Target Sequences Associated with Individual Drug Susceptibility.

International Journal Of Molecular Sciences

Rykova, Elena E; Ershov, Nikita N; Damarov, Igor I; Merkulova, Tatiana T

Publication Date: 2022-11-08

Variant appearance in text: rs1042640

PubMed Link: 36430200

Variant Present in the following documents:

• Main text
• ijms-23-13725.pdf

View BVdb publication page

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MicroRNAs and cancer drug resistance: over two thousand characters in search of a role.

Cancer Drug Resistance (Alhambra, Calif.)

Gomes, Bruno Costa BC; Rueff, José J; Rodrigues, António Sebastião AS

Publication Date: 2019

Variant appearance in text: rs1042640

PubMed Link: 35582590

Variant Present in the following documents:

• cdr-2-618.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: rs1042640

PubMed Link: 34621706

Variant Present in the following documents:

• Main text
• tcp-29-135.pdf
• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs1042640

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Epigenetics and microRNAs in UGT1As.

Human Genomics

Meng, Cui-Lan CL; Zhao, Wei W; Zhong, Dan-Ni DN

Publication Date: 2021-05-25

Variant appearance in text: rs1042640

PubMed Link: 34034810

Variant Present in the following documents:

• Main text

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: rs1042640

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomics and Pharmacogenetics: In Silico Prediction of Drug Effects in Treatments for Novel Coronavirus SARS-CoV2 Disease.

Pharmacogenomics And Personalized Medicine

Cafiero, Concetta C; Re, Agnese A; Micera, Alessandra A; Palmirotta, Raffaele R; Monaco, Delio D; Romano, Francesca F; Fabrizio, Claudia C; Di Francia, Raffaele R; Cacciamani, Andrea A; Surico, Pier Luigi PL; D'Amato, Gerardo G; Pisconti, Salvatore S

Publication Date: 2020

Variant appearance in text: rs1042640

PubMed Link: 33116761

Variant Present in the following documents:

• Main text
• pgpm-13-463.pdf

View BVdb publication page

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The Roles of Common Variation and Somatic Mutation in Cancer Pharmacogenomics.

Oncology And Therapy

Chan, Hiu Ting HT; Chin, Yoon Ming YM; Low, Siew-Kee SK

Publication Date: 2019-06

Variant appearance in text: rs1042640

PubMed Link: 32700193

Variant Present in the following documents:

• Main text
• 40487_2018_Article_90.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: rs1042640

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 Review: Genetic Associations for Prognostic Factors of Urinary Bladder Cancer.

Biomarkers In Cancer

Lipunova, Nadezda N; Wesselius, Anke A; Cheng, Kar K KK; van Schooten, Frederik J FJ; Cazier, Jean-Baptiste JB; Bryan, Richard T RT; Zeegers, Maurice P MP

Publication Date: 2019

Variant appearance in text: rs1042640

PubMed Link: 31908559

Variant Present in the following documents:

• Supplementary_Tables_1_12_Sep24_xyz268777d1d25d8.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: rs1042640

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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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: rs1042640

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Genetic Association of Drug Response to Erlotinib in Chinese Advanced Non-small Cell Lung Cancer Patients.

Frontiers In Pharmacology

Wang, Cong C; Chen, Fang F; Liu, Yichen Y; Xu, Qingqing Q; Guo, Liang L; Zhang, Xiaoqing X; Ruan, Yunfeng Y; Shi, Ye Y; Shen, Lu L; Li, Mo M; Du, Huihui H; Sun, Xiaofang X; Ma, Jingsong J; He, Lin L; Qin, Shengying S

Publication Date: 2018

Variant appearance in text: rs1042640

PubMed Link: 29695969

Variant Present in the following documents:

• Main text
• fphar-09-00360.pdf

View BVdb publication page

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Polymorphic Expression of UGT1A9 is Associated with Variable Acetaminophen Glucuronidation in Neonates: A Population Pharmacokinetic and Pharmacogenetic Study.

Clinical Pharmacokinetics

Linakis, Matthew W MW; Cook, Sarah F SF; Kumar, Shaun S SS; Liu, Xiaoxi X; Wilkins, Diana G DG; Gaedigk, Roger R; Gaedigk, Andrea A; Sherwin, Catherine M T CMT; van den Anker, John N JN

Publication Date: 2018-10

Variant appearance in text: rs1042640

PubMed Link: 29654492

Variant Present in the following documents:

• Main text

View BVdb publication page

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UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population.

Biomed Research International

Wisnumurti, Dewi A DA; Sribudiani, Yunia Y; Porsch, Robert M RM; Maskoen, Ani M AM; Abdulhamied, Lola I LI; Rahayuningsih, Sri E SE; Asni, Eni K EK; Sleutels, Frank F; Kockx, Christel E M CEM; van Ijcken, Wilfred F J WFJ; Sukadi, Abdurachman A; Achmad, Tri H TH

Publication Date: 2018

Variant appearance in text: rs1042640

PubMed Link: 29607327

Variant Present in the following documents:

• Main text
• BMRI2018-9425843.pdf

View BVdb publication page

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PharmGKB summary: atazanavir pathway, pharmacokinetics/pharmacodynamics.

Pharmacogenetics And Genomics

Alvarellos, Maria M; Guillemette, Chantal C; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2018-05

Variant appearance in text: rs1042640

PubMed Link: 29517518

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia.

Oncotarget

Qiu, Jian-Wu JW; Deng, Mei M; Cheng, Ying Y; Atif, Raza-Muhammad RM; Lin, Wei-Xia WX; Guo, Li L; Li, Hua H; Song, Yuan-Zong YZ

Publication Date: 2017-12-05

Variant appearance in text: rs1042640

PubMed Link: 29290974

Variant Present in the following documents:

• Main text
• oncotarget-08-106598.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: rs1042640

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs1042640

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Identification and validation of microRNAs directly regulating the UDP-glucuronosyltransferase 1A subfamily enzymes by a functional genomics approach.

Biochemical Pharmacology

Papageorgiou, Ioannis I; Court, Michael H MH

Publication Date: 2017-08-01

Variant appearance in text: rs1042640

PubMed Link: 28433553

Variant Present in the following documents:

• Main text

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: rs1042640

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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PharmGKB summary: pathways of acetaminophen metabolism at the therapeutic versus toxic doses.

Pharmacogenetics And Genomics

Mazaleuskaya, Liudmila L LL; Sangkuhl, Katrin K; Thorn, Caroline F CF; FitzGerald, Garret A GA; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2015-08

Variant appearance in text: rs1042640

PubMed Link: 26049587

Variant Present in the following documents:

• Main text

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: rs1042640

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomics of acetaminophen in pediatric populations: a moving target.

Frontiers In Genetics

Krasniak, Anne E AE; Knipp, Gregory T GT; Svensson, Craig K CK; Liu, Wanqing W

Publication Date: 2014

Variant appearance in text: rs1042640

PubMed Link: 25352860

Variant Present in the following documents:

• Main text
• fgene-05-00314.pdf

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: rs1042640

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Comprehensive variant screening of the UGT gene family.

Yonsei Medical Journal

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Byung Lae BL; Kim, Lyoung Hyo LH; Namgoong, Suhg S; Kim, Ji On JO; Kim, Hae Deun HD; Kim, Young Hoon YH; Chung, Myeon Woo MW; Han, Soon Young SY; Shin, Hyoung Doo HD

Publication Date: 2014-01

Variant appearance in text: rs1042640

PubMed Link: 24339312

Variant Present in the following documents:

• ymj-55-232.pdf

View BVdb publication page

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The UDP-glucuronosyltransferase (UGT) 1A polymorphism c.2042C>G (rs8330) is associated with increased human liver acetaminophen glucuronidation, increased UGT1A exon 5a/5b splice variant mRNA ratio, and decreased risk of unintentional acetaminophen-induced acute liver failure.

The Journal Of Pharmacology And Experimental Therapeutics

Court, Michael H MH; Freytsis, Marina M; Wang, Xueding X; Peter, Inga I; Guillemette, Chantal C; Hazarika, Suwagmani S; Duan, Su X SX; Greenblatt, David J DJ; Lee, William M WM; ,

Publication Date: 2013-05

Variant appearance in text: rs1042640

PubMed Link: 23408116

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han.

Genetics And Molecular Biology

Zhang, Xiaoqing X; Ao, Guokun G; Wang, Yuewen Y; Yan, Wei W; Wang, Min M; Chen, Erfei E; Yang, Fangfang F; Yang, Jin J

Publication Date: 2012-04

Variant appearance in text: rs1042640

PubMed Link: 22888291

Variant Present in the following documents:

• Main text
• gmb-35-2-428.pdf

View BVdb publication page

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Genetic variations and haplotype diversity of the UGT1 gene cluster in the Chinese population.

Plos One

Yang, Jing J; Cai, Lei L; Huang, Haiyan H; Liu, Bingya B; Wu, Qiang Q

Publication Date: 2012

Variant appearance in text: rs1042640

PubMed Link: 22514612

Variant Present in the following documents:

• Main text
• pone.0033988.pdf

View BVdb publication page

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Population pharmacokinetic analysis and pharmacogenetics of raltegravir in HIV-positive and healthy individuals.

Antimicrobial Agents And Chemotherapy

Arab-Alameddine, Mona M; Fayet-Mello, Aurélie A; Lubomirov, Rubin R; Neely, Michael M; di Iulio, Julia J; Owen, Andrew A; Boffito, Marta M; Cavassini, Matthias M; Günthard, Huldrych F HF; Rentsch, Katharina K; Buclin, Thierry T; Aouri, Manel M; Telenti, Amalio A; Decosterd, Laurent Arthur LA; Rotger, Margalida M; Csajka, Chantal C; ,

Publication Date: 2012-06

Variant appearance in text: rs1042640

PubMed Link: 22371894

Variant Present in the following documents:

• Main text

View BVdb publication page

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UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach.

Bmc Medical Genetics

Hanchard, Neil A NA; Skierka, Jennifer J; Weaver, Amy A; Karon, Brad S BS; Matern, Dietrich D; Cook, Walter W; O'Kane, Dennis J DJ

Publication Date: 2011-04-22

Variant appearance in text: rs1042640

PubMed Link: 21513526

Variant Present in the following documents:

• Main text
• 1471-2350-12-57.pdf

View BVdb publication page

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Bladder cancer SNP panel predicts susceptibility and survival.

Human Genetics

Andrew, Angeline S AS; Gui, Jiang J; Sanderson, Arthur C AC; Mason, Rebecca A RA; Morlock, Elaine V EV; Schned, Alan R AR; Kelsey, Karl T KT; Marsit, Carmen J CJ; Moore, Jason H JH; Karagas, Margaret R MR

Publication Date: 2009-06

Variant appearance in text: rs1042640

PubMed Link: 19252927

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

Carcinogenesis

Figueroa, Jonine D JD; Malats, Núria N; García-Closas, Montserrat M; Real, Francisco X FX; Silverman, Debra D; Kogevinas, Manolis M; Chanock, Stephen S; Welch, Robert R; Dosemeci, Mustafa M; Lan, Qing Q; Tardón, Adonina A; Serra, Consol C; Carrato, Alfredo A; García-Closas, Reina R; Castaño-Vinyals, Gemma G; Rothman, Nathaniel N

Publication Date: 2008-10

Variant appearance in text: rs1042640

PubMed Link: 18632753

Variant Present in the following documents:

• Main text

View BVdb publication page

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