Publications:

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Genetic polymorphisms influencing deferasirox pharmacokinetics, efficacy, and adverse drug reactions: a systematic review and meta-analysis.

Frontiers In Pharmacology

Yampayon, Kittika K; Anantachoti, Puree P; Chongmelaxme, Bunchai B; Yodsurang, Varalee V

Publication Date: 2023

Variant appearance in text: rs3821242

PubMed Link: 37261288

Variant Present in the following documents:

• DataSheet1.pdf

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: UGT1A3: W11R; rs3821242

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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The Mutation Hotspots at UGT1A Locus May Be Associated with Gilbert's Syndrome Affecting the Taiwanese Population.

International Journal Of Molecular Sciences

Hsu, Paul Wei-Che PW; Liao, Po-Cheng PC; Kao, Yu-Hsiang YH; Lin, Xin-Yu XY; Chien, Rong-Nan RN; Yeh, Chau-Ting CT; Lai, Chi-Chun CC; Shyu, Yu-Chiau YC; Lin, Chih-Lang CL

Publication Date: 2022-10-21

Variant appearance in text: rs3821242

PubMed Link: 36293566

Variant Present in the following documents:

• ijms-23-12709.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: UGT1A3: W11R

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Susceptibility Loci in SLC15A1, UGT1A3, and CWC27 Genes Associated with Bladder Cancer in the Northeast Chinese Population.

Biomed Research International

Wu, Peihong P; Guo, Yaoxing Y

Publication Date: 2022

Variant appearance in text: rs3821242

PubMed Link: 36124064

Variant Present in the following documents:

• BMRI2022-2988159.pdf

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: UGT1A3: W11R

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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A Prognostic and Carboplatin Response Predictive Model in Ovarian Cancer: A Mono-Institutional Retrospective Study Based on Clinics and Pharmacogenomics.

Biomedicines

Staropoli, Nicoletta N; Arbitrio, Mariamena M; Salvino, Angela A; Scionti, Francesca F; Ciliberto, Domenico D; Ingargiola, Rossana R; Labanca, Caterina C; Agapito, Giuseppe G; Iuliano, Eleonora E; Barbieri, Vito V; Cucè, Maria M; Zuccalà, Valeria V; Cannataro, Mario M; Tassone, Pierfrancesco P; Tagliaferri, Pierosandro P

Publication Date: 2022-05-23

Variant appearance in text: rs3821242

PubMed Link: 35625946

Variant Present in the following documents:

• biomedicines-10-01210.pdf

View BVdb publication page

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Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Blood Advances

Gnatenko, Dmitri V DV; Liu, Zhaoyan Z; Hearing, Patrick P; Sohn, Sook-Young SY; Hu, Yetao Y; Falanga, Anna A; Wu, Song S; Malone, Lisa E LE; Zhu, Wei W; Bahou, Wadie F WF

Publication Date: 2022-08-23

Variant appearance in text: UGT1A3: W11R; rs3821242

PubMed Link: 35381074

Variant Present in the following documents:

• advancesADV2021005648-suppl1.pdf

View BVdb publication page

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Effects of genetic polymorphism of drug-metabolizing enzymes on the plasma concentrations of antiepileptic drugs in Chinese population.

Bioengineered

Zhao, Weixuan W; Meng, Hongmei H

Publication Date: 2022-03

Variant appearance in text: UGT1A3: 31T>C

PubMed Link: 35290166

Variant Present in the following documents:

• KBIE_13_2036916.pdf

View BVdb publication page

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UDP-glucuronosyltransferases mediate coffee-associated reduction of liver fibrosis in bile duct ligated humanized transgenic UGT1A mice.

Hepatobiliary Surgery And Nutrition

Landerer, Steffen S; Kalthoff, Sandra S; Strassburg, Christian P CP

Publication Date: 2021-12

Variant appearance in text: UGT1A3: W11R; rs3821242

PubMed Link: 35004944

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: UGT1A3: W11R

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1
• Table_1.xls, sheet 5
• Table_2.xlsx, sheet 1
• Table_1.xls, sheet 4

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: UGT1A3: 31T>C; W11R; rs3821242

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, 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: UGT1A6: 861+35292T>C; rs3821242

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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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: UGT1A3: W11R; rs3821242

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: UGT1A3: 31T>C; W11R; rs3821242

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 2

View BVdb publication page

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Genetic and Non-genetic Factors Contributing to the Significant Variation in the Plasma Trough Concentration-to-Dose Ratio of Valproic Acid in Children With Epilepsy.

Frontiers In Pediatrics

Xu, Ze-Yue ZY; Guo, Hong-Li HL; Li, Ling L; Zhang, Min M; Jing, Xia X; Xu, Ze-Jun ZJ; Qiu, Jin-Chun JC; Lu, Xiao-Peng XP; Ding, Xuan-Sheng XS; Chen, Feng F; Xu, Jing J

Publication Date: 2020

Variant appearance in text: rs3821242

PubMed Link: 33553069

Variant Present in the following documents:

• Main text
• fped-08-599044.pdf

View BVdb publication page

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Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine

Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y

Publication Date: 2021-01

Variant appearance in text: UGT1A3: W11R; rs3821242

PubMed Link: 33463056

Variant Present in the following documents:

• CTM2-11-e285-s003.xlsx, sheet 24

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: UGT1A3: W11R; rs3821242

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

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: UGT1A3: W11R

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 26
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 19

View BVdb publication page

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High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine

Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A

Publication Date: 2020-12

Variant appearance in text: UGT1A3: 31T>C; W11R; rs3821242

PubMed Link: 33254023

Variant Present in the following documents:

• mmc5.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: UGT1A3: 31T>C; W11R; rs3821242

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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The coffee ingredients caffeic acid and caffeic acid phenylethyl ester protect against irinotecan-induced leukopenia and oxidative stress response.

British Journal Of Pharmacology

Kalthoff, Sandra S; Paulusch, Stefan S; Rupp, Alexander A; Holdenrieder, Stefan S; Hartmann, Gunther G; Strassburg, Christian P CP

Publication Date: 2020-09

Variant appearance in text: UGT1A3: W11R

PubMed Link: 32548889

Variant Present in the following documents:

• Main text
• BPH-177-4193.pdf

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: UGT1A3: W11R; rs3821242

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: rs3821242

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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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: UGT1A3: W11R

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_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: UGT1A3: W11R; rs3821242

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_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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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: UGT1A3: W11R; rs3821242

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: UGT1A3: 31T>C; Trp11Arg; rs3821242

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Lack of UGT polymorphism association with idasanutlin pharmacokinetics in solid tumor patients.

Cancer Chemotherapy And Pharmacology

So, W Venus WV; Ou Yang, Tai-Hsien TH; Yang, Xing X; Zhi, Jianguo J

Publication Date: 2019-01

Variant appearance in text: rs3821242

PubMed Link: 30511219

Variant Present in the following documents:

• Main text
• 280_2018_Article_3741.pdf

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: UGT1A3: W11R; rs3821242

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

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: rs3821242

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.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: rs3821242

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Influence of Transporter Polymorphisms on Drug Disposition and Response: A Perspective From the International Transporter Consortium.

Clinical Pharmacology And Therapeutics

Yee, Sook Wah SW; Brackman, Deanna J DJ; Ennis, Elizabeth A EA; Sugiyama, Yuichi Y; Kamdem, Landry K LK; Blanchard, Rebecca R; Galetin, Aleksandra A; Zhang, Lei L; Giacomini, Kathleen M KM

Publication Date: 2018-11

Variant appearance in text: rs3821242

PubMed Link: 29679469

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clopidogrel but Not Prasugrel Significantly Inhibits the CYP2C8-Mediated Metabolism of Montelukast in Humans.

Clinical Pharmacology And Therapeutics

Itkonen, Matti K MK; Tornio, Aleksi A; Filppula, Anne M AM; Neuvonen, Mikko M; Neuvonen, Pertti J PJ; Niemi, Mikko M; Backman, Janne T JT

Publication Date: 2018-09

Variant appearance in text: rs3821242

PubMed Link: 29171020

Variant Present in the following documents:

• Main text
• CPT-104-495.pdf

View BVdb publication page

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Comprehensive Pharmacogenomic Study Reveals an Important Role of UGT1A3 in Montelukast Pharmacokinetics.

Clinical Pharmacology And Therapeutics

Hirvensalo, Päivi P; Tornio, Aleksi A; Neuvonen, Mikko M; Tapaninen, Tuija T; Paile-Hyvärinen, Maria M; Kärjä, Vesa V; Männistö, Ville T VT; Pihlajamäki, Jussi J; Backman, Janne T JT; Niemi, Mikko M

Publication Date: 2018-07

Variant appearance in text: UGT1A3: 31T>C; Trp11Arg; rs3821242

PubMed Link: 28940478

Variant Present in the following documents:

• Main text
• CPT-104-158.pdf
• CPT-104-158-s007.pdf

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: UGT1A3: 31T>C; W11R; rs3821242

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Pharmacogenomics and histone deacetylase inhibitors.

Pharmacogenomics

Goey, Andrew Kl AK; Sissung, Tristan M TM; Peer, Cody J CJ; Figg, William D WD

Publication Date: 2016-11

Variant appearance in text: rs3821242

PubMed Link: 27767376

Variant Present in the following documents:

• Main text

View BVdb publication page

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: UGT1A3: W11R

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: UGT1A3: W11R

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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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: rs3821242

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: UGT1A3: W11R; rs3821242

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: UGT1A3: W11R; rs3821242

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

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Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications

Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES

Publication Date: 2015-04-09

Variant appearance in text: UGT1A3: W11R

PubMed Link: 25855536

Variant Present in the following documents:

• ncomms7744-s2.xlsx, sheet 1

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: rs3821242

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

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: UGT1A3: W11R; rs3821242

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Determination of major UDP-glucuronosyltransferase enzymes and their genotypes responsible for 20-HETE glucuronidation.

Journal Of Lipid Research

Jarrar, Yazun Bashir YB; Cha, Eun-Young EY; Seo, Kyung-Ah KA; Ghim, Jong-Lyul JL; Kim, Hyo-Ji HJ; Kim, Dong-Hyun DH; Lee, Su-Jun SJ; Shin, Jae-Gook JG

Publication Date: 2014-11

Variant appearance in text: rs3821242

PubMed Link: 25249502

Variant Present in the following documents:

• Main text

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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: rs3821242

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

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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: UGT1A3: W11R; rs3821242

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs3821242

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Genome Medicine

Lupski, James R JR; Gonzaga-Jauregui, Claudia C; Yang, Yaping Y; Bainbridge, Matthew N MN; Jhangiani, Shalini S; Buhay, Christian J CJ; Kovar, Christie L CL; Wang, Min M; Hawes, Alicia C AC; Reid, Jeffrey G JG; Eng, Christine C; Muzny, Donna M DM; Gibbs, Richard A RA

Publication Date: 2013

Variant appearance in text: UGT1A3: Trp11Arg

PubMed Link: 23806086

Variant Present in the following documents:

• Main text

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Profiling serum bile acid glucuronides in humans: gender divergences, genetic determinants, and response to fenofibrate.

Clinical Pharmacology And Therapeutics

Trottier, J J; Perreault, M M; Rudkowska, I I; Levy, C C; Dallaire-Theroux, A A; Verreault, M M; Caron, P P; Staels, B B; Vohl, M-C MC; Straka, R J RJ; Barbier, O O

Publication Date: 2013-10

Variant appearance in text: rs3821242

PubMed Link: 23756370

Variant Present in the following documents:

• Main text
• nihms3419.pdf

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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: rs3821242

PubMed Link: 22514612

Variant Present in the following documents:

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: rs3821242

PubMed Link: 22371894

Variant Present in the following documents:

• Main text

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Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer.

Human Molecular Genetics

Tang, Wei W; Fu, Yi-Ping YP; Figueroa, Jonine D JD; Malats, Núria N; Garcia-Closas, Montserrat M; Chatterjee, Nilanjan N; Kogevinas, Manolis M; Baris, Dalsu D; Thun, Michael M; Hall, Jennifer L JL; De Vivo, Immaculata I; Albanes, Demetrius D; Porter-Gill, Patricia P; Purdue, Mark P MP; Burdett, Laurie L; Liu, Luyang L; Hutchinson, Amy A; Myers, Timothy T; Tardón, Adonina A; Serra, Consol C; Carrato, Alfredo A; Garcia-Closas, Reina R; Lloreta, Josep J; Johnson, Alison A; Schwenn, Molly M; Karagas, Margaret R MR; Schned, Alan A; Black, Amanda A; Jacobs, Eric J EJ; Diver, W Ryan WR; Gapstur, Susan M SM; Virtamo, Jarmo J; Hunter, David J DJ; Fraumeni, Joseph F JF; Chanock, Stephen J SJ; Silverman, Debra T DT; Rothman, Nathaniel N; Prokunina-Olsson, Ludmila L

Publication Date: 2012-04-15

Variant appearance in text: rs3821242

PubMed Link: 22228101

Variant Present in the following documents:

• Main text

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Associations between polymorphisms in glucuronidation and sulfation enzymes and mammographic breast density in premenopausal women in the United States.

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

Yong, Mellissa M; Schwartz, Stephen M SM; Atkinson, Charlotte C; Makar, Karen W KW; Thomas, Sushma S SS; Newton, Katherine M KM; Aiello Bowles, Erin J EJ; Holt, Victoria L VL; Leisenring, Wendy M WM; Lampe, Johanna W JW

Publication Date: 2010-02

Variant appearance in text: UGT1A3: W11R; rs3821242

PubMed Link: 20142249

Variant Present in the following documents:

• Main text

View BVdb publication page

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