Publications:

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: UGT1A8: C277Y; rs17863762

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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: UGT1A8: 830G>A; C277Y; rs17863762

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Racial Disparity in Drug Disposition in the Digestive Tract.

International Journal Of Molecular Sciences

Gao, Song S; Bell, Edward C EC; Zhang, Yun Y; Liang, Dong D

Publication Date: 2021-01-21

Variant appearance in text: UGT1A8: C277Y

PubMed Link: 33494365

Variant Present in the following documents:

• Main text
• ijms-22-01038.pdf

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: UGT1A8: C277Y; rs17863762

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: UGT1A8: 830G>A; C277Y; rs17863762

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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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: UGT1A8: C277Y; rs17863762

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: UGT1A8: C277Y; rs17863762

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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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: UGT1A8: C277Y; rs17863762

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal

Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM

Publication Date: 2019-04

Variant appearance in text: UGT1A8: C277Y; rs17863762

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: UGT1A8: C277Y; rs17863762

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Mycophenolate mofetil-related leukopenia in children and young adults following kidney transplantation: Influence of genes and drugs.

Pediatric Transplantation

Varnell, Charles D CD; Fukuda, Tsuyoshi T; Kirby, Cassie L CL; Martin, Lisa J LJ; Warshaw, Barry L BL; Patel, Hiren P HP; Chand, Deepa H DH; Barletta, Gina-Marie GM; Van Why, Scott K SK; VanDeVoorde, Rene G RG; Weaver, Donald J DJ; Wilson, Amy A; Verghese, Priya S PS; Vinks, Alexander A AA; Greenbaum, Larry A LA; Goebel, Jens J; Hooper, David K DK

Publication Date: 2017-11

Variant appearance in text: rs17863762

PubMed Link: 28869324

Variant Present in the following documents:

• Main text

View BVdb publication page

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Microsomal and Cytosolic Scaling Factors in Dog and Human Kidney Cortex and Application for In Vitro-In Vivo Extrapolation of Renal Metabolic Clearance.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals

Scotcher, Daniel D; Billington, Sarah S; Brown, Jay J; Jones, Christopher R CR; Brown, Colin D A CDA; Rostami-Hodjegan, Amin A; Galetin, Aleksandra A

Publication Date: 2017-05

Variant appearance in text: rs17863762

PubMed Link: 28270564

Variant Present in the following documents:

• Main text
• dmd.117.075242.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: UGT1A8: 830G>A; Cys277Tyr; rs17863762

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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: rs17863762

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.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: rs17863762

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Cellular asymmetric catalysis by UDP-glucuronosyltransferase 1A8 shows functional localization to the basolateral plasma membrane.

The Journal Of Biological Chemistry

Ziegler, Kerstin K; Tumova, Sarka S; Kerimi, Asimina A; Williamson, Gary G

Publication Date: 2015-03-20

Variant appearance in text: UGT1A8: C277Y

PubMed Link: 25586184

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mycophenolic acid AUC in Thai kidney transplant recipients receiving low dose mycophenolate and its association with UGT2B7 polymorphisms.

Pharmacogenomics And Personalized Medicine

Pithukpakorn, Manop M; Tiwawanwong, Tiwat T; Lalerd, Yupaporn Y; Assawamakin, Anunchai A; Premasathian, Nalinee N; Tasanarong, Adis A; Thongnoppakhun, Wanna W; Vongwiwatana, Attapong A

Publication Date: 2014

Variant appearance in text: UGT1A8: C277Y; rs17863762

PubMed Link: 25540593

Variant Present in the following documents:

• Main text
• pgpm-7-379.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: UGT1A8: C277Y; rs17863762

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: rs17863762

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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PharmGKB summary: mycophenolic acid pathway.

Pharmacogenetics And Genomics

Lamba, Vishal V; Sangkuhl, Katrin K; Sanghavi, Kinjal K; Fish, Alyssa A; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2014-01

Variant appearance in text: UGT1A8: C277Y; rs17863762

PubMed Link: 24220207

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in metabolism/antioxidant genes may mediate the effect of dietary intake on pancreatic cancer risk.

Pancreas

Jansen, Rick J RJ; Robinson, Dennis P DP; Stolzenberg-Solomon, Rachael Z RZ; Bamlet, William R WR; Tan, XiangLin X; Cunningham, Julie M JM; Li, Ying Y; Rider, David N DN; Oberg, Ann L AL; Rabe, Kari G KG; Anderson, Kristin E KE; Sinha, Rashmi R; Petersen, Gloria M GM

Publication Date: 2013-10

Variant appearance in text: rs17863762

PubMed Link: 24051964

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of raloxifene glucuronidation: potential role of UGT1A8 genotype on raloxifene metabolism in vivo.

Cancer Prevention Research (Philadelphia, Pa.)

Sun, Dongxiao D; Jones, Nathan R NR; Manni, Andrea A; Lazarus, Philip P

Publication Date: 2013-07

Variant appearance in text: rs17863762

PubMed Link: 23682072

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphic expression of UDP-glucuronosyltransferase UGTlA gene in human colorectal cancer.

Plos One

Wang, Min M; Sun, De-Feng DF; Wang, Shuai S; Qing, Ying Y; Chen, Shuo S; Wu, Dong D; Lin, Ying-Min YM; Luo, Ji-Zhuang JZ; Li, Yan-Qing YQ

Publication Date: 2013

Variant appearance in text: UGT1A8: C277Y

PubMed Link: 23468910

Variant Present in the following documents:

• Main text
• pone.0057045.pdf

View BVdb publication page

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Population pharmacokinetics of unbound mycophenolic acid in adult allogeneic haematopoietic cell transplantation: effect of pharmacogenetic factors.

British Journal Of Clinical Pharmacology

Frymoyer, Adam A; Verotta, Davide D; Jacobson, Pamala P; Long-Boyle, Janel J

Publication Date: 2013-02

Variant appearance in text: rs17863762

PubMed Link: 22765258

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs17863762

PubMed Link: 22228101

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional polymorphisms in UDP-glucuronosyl transferases and recurrence in tamoxifen-treated breast cancer survivors.

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

Ahern, Thomas P TP; Christensen, Mariann M; Cronin-Fenton, Deirdre P DP; Lunetta, Kathryn L KL; Søiland, Håvard H; Gjerde, Jennifer J; Garne, Jens Peter JP; Rosenberg, Carol L CL; Silliman, Rebecca A RA; Sørensen, Henrik Toft HT; Lash, Timothy L TL; Hamilton-Dutoit, Stephen S

Publication Date: 2011-09

Variant appearance in text: rs17863762

PubMed Link: 21750172

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.

The Aaps Journal

Di, Yuan Ming YM; Chan, Eli E; Wei, Ming Qian MQ; Liu, Jun-Ping JP; Zhou, Shu-Feng SF

Publication Date: 2009-09

Variant appearance in text: rs17863762

PubMed Link: 19572200

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of UGTs active against SAHA and association between SAHA glucuronidation activity phenotype with UGT genotype.

Cancer Research

Balliet, Renee M RM; Chen, Gang G; Gallagher, Carla J CJ; Dellinger, Ryan W RW; Sun, Dongxiao D; Lazarus, Philip P

Publication Date: 2009-04-01

Variant appearance in text: UGT1A8: Cys277Tyr

PubMed Link: 19318555

Variant Present in the following documents:

• Main text

View BVdb publication page

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