Publications:

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Colorectal Cancer Chemoprevention: A Dream Coming True?

International Journal Of Molecular Sciences

Lepore Signorile, Martina M; Grossi, Valentina V; Fasano, Candida C; Simone, Cristiano C

Publication Date: 2023-04-20

Variant appearance in text: rs2070959

PubMed Link: 37108756

Variant Present in the following documents:

• Main text
• ijms-24-07597.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: UGT1A6: T181A; rs2070959

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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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: UGT1A6: T181A; rs2070959

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Therapeutic and Toxic Effects of Valproic Acid Metabolites.

Metabolites

Shnayder, Natalia A NA; Grechkina, Violetta V VV; Khasanova, Aiperi K AK; Bochanova, Elena N EN; Dontceva, Evgenia A EA; Petrova, Marina M MM; Asadullin, Azat R AR; Shipulin, German A GA; Altynbekov, Kuanysh S KS; Al-Zamil, Mustafa M; Nasyrova, Regina F RF

Publication Date: 2023-01-16

Variant appearance in text: rs2070959

PubMed Link: 36677060

Variant Present in the following documents:

• Main text
• metabolites-13-00134.pdf

View BVdb publication page

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Mono- and biallelic variant effects on disease at biobank scale.

Nature

Heyne, H O HO; Karjalainen, J J; Karczewski, K J KJ; Lemmelä, S M SM; Zhou, W W; , ; Havulinna, A S AS; Kurki, M M; Rehm, H L HL; Palotie, A A; Daly, M J MJ

Publication Date: 2023-01

Variant appearance in text: rs2070959

PubMed Link: 36653560

Variant Present in the following documents:

• 41586_2022_5420_MOESM1_ESM.pdf

View BVdb publication page

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Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group.

Journal Of Experimental & Clinical Cancer Research : Cr

Junk, Stefanie V SV; Schaeffeler, Elke E; Zimmermann, Martin M; Möricke, Anja A; Beier, Rita R; Schütte, Peter P; Fedders, Birthe B; Alten, Julia J; Hinze, Laura L; Klein, Norman N; Kulozik, Andreas A; Muckenthaler, Martina U MU; Koehler, Rolf R; Borkhardt, Arndt A; Vijayakrishnan, Jayaram J; Ellinghaus, David D; Forster, Michael M; Franke, Andre A; Wintering, Astrid A; Kratz, Christian P CP; Schrappe, Martin M; Schwab, Matthias M; Houlston, Richard S RS; Cario, Gunnar G; Stanulla, Martin M

Publication Date: 2023-01-13

Variant appearance in text: UGT1A6: T181A; rs2070959

PubMed Link: 36639636

Variant Present in the following documents:

• 13046_2022_2585_MOESM1_ESM.pdf

View BVdb publication page

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Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Jama Network Open

Yang, Wenjian W; Karol, Seth E SE; Hoshitsuki, Keito K; Lee, Shawn S; Larsen, Eric C EC; Winick, Naomi N; Carroll, William L WL; Loh, Mignon L ML; Raetz, Elizabeth A EA; Hunger, Stephen P SP; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Devidas, Meenakshi M; Relling, Mary V MV; Yang, Jun J JJ

Publication Date: 2022-12-01

Variant appearance in text: rs2070959

PubMed Link: 36580335

Variant Present in the following documents:

• jamanetwopen-e2248803-s001.pdf

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: rs2070959

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: UGT1A6: T181A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2

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: UGT1A6: T181A

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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Common UGT1A6 Variant Alleles Determine Acetaminophen Pharmacokinetics in Man.

Journal Of Personalized Medicine

Cerezo-Arias, María de Las Olas MLO; Gómez-Tabales, Javier J; Martí, Manuel M; García-Martín, Elena E; Agúndez, José A G JAG

Publication Date: 2022-04-29

Variant appearance in text: UGT1A6: Thr181Ala; rs2070959

PubMed Link: 35629143

Variant Present in the following documents:

• Main text
• jpm-12-00720.pdf

View BVdb publication page

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Germline variants in cancer therapy.

Cancer Drug Resistance (Alhambra, Calif.)

Kaehler, Meike M; Cascorbi, Ingolf I

Publication Date: 2019

Variant appearance in text: UGT1A6: T181A

PubMed Link: 35582146

Variant Present in the following documents:

• cdr-2-18.pdf

View BVdb publication page

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Pharmacogenetics of Dolutegravir Plasma Exposure Among Southern Africans With Human Immunodeficiency Virus.

The Journal Of Infectious Diseases

Cindi, Zinhle Z; Kawuma, Aida N AN; Maartens, Gary G; Bradford, Yuki Y; Venter, Francois F; Sokhela, Simiso S; Chandiwana, Nomathemba N; Wasmann, Roeland E RE; Denti, Paolo P; Wiesner, Lubbe L; Ritchie, Marylyn D MD; Haas, David W DW; Sinxadi, Phumla P

Publication Date: 2022-11-01

Variant appearance in text: rs2070959

PubMed Link: 35512135

Variant Present in the following documents:

• EMS145648-supplement-Supplementary_file.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: UGT1A6: 541A>G; T181A

PubMed Link: 35290166

Variant Present in the following documents:

• Main text
• 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: rs2070959

PubMed Link: 35004944

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genophenotypic Factors and Pharmacogenomics in Adverse Drug Reactions.

International Journal Of Molecular Sciences

Cacabelos, Ramón R; Naidoo, Vinogran V; Corzo, Lola L; Cacabelos, Natalia N; Carril, Juan C JC

Publication Date: 2021-12-10

Variant appearance in text: rs2070959

PubMed Link: 34948113

Variant Present in the following documents:

• Main text
• ijms-22-13302.pdf

View BVdb publication page

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Genophenotypic Factors and Pharmacogenomics in Adverse Drug Reactions.

International Journal Of Molecular Sciences

Cacabelos, Ramón R; Naidoo, Vinogran V; Corzo, Lola L; Cacabelos, Natalia N; Carril, Juan C JC

Publication Date: 2021-12-10

Variant appearance in text: rs2070959

PubMed Link: 34948113

Variant Present in the following documents:

• Main text
• ijms-22-13302.pdf

View BVdb publication page

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Salicylic Acid and Risk of Colorectal Cancer: A Two-Sample Mendelian Randomization Study.

Nutrients

Nounu, Aayah A; Richmond, Rebecca C RC; Stewart, Isobel D ID; Surendran, Praveen P; Wareham, Nicholas J NJ; Butterworth, Adam A; Weinstein, Stephanie J SJ; Albanes, Demetrius D; Baron, John A JA; Hopper, John L JL; Figueiredo, Jane C JC; Newcomb, Polly A PA; Lindor, Noralane M NM; Casey, Graham G; Platz, Elizabeth A EA; Marchand, Loïc Le LL; Ulrich, Cornelia M CM; Li, Christopher I CI; van Dujinhoven, Fränzel J B FJB; Gsur, Andrea A; Campbell, Peter T PT; Moreno, Víctor V; Vodicka, Pavel P; Vodickova, Ludmila L; Amitay, Efrat E; Alwers, Elizabeth E; Chang-Claude, Jenny J; Sakoda, Lori C LC; Slattery, Martha L ML; Schoen, Robert E RE; Gunter, Marc J MJ; Castellví-Bel, Sergi S; Kim, Hyeong-Rok HR; Kweon, Sun-Seog SS; Chan, Andrew T AT; Li, Li L; Zheng, Wei W; Bishop, D Timothy DT; Buchanan, Daniel D DD; Giles, Graham G GG; Gruber, Stephen B SB; Rennert, Gad G; Stadler, Zsofia K ZK; Harrison, Tabitha A TA; Lin, Yi Y; Keku, Temitope O TO; Woods, Michael O MO; Schafmayer, Clemens C; Van Guelpen, Bethany B; Gallinger, Steven S; Hampel, Heather H; Berndt, Sonja I SI; Pharoah, Paul D P PDP; Lindblom, Annika A; Wolk, Alicja A; Wu, Anna H AH; White, Emily E; Peters, Ulrike U; Drew, David A DA; Scherer, Dominique D; Bermejo, Justo Lorenzo JL; Brenner, Hermann H; Hoffmeister, Michael M; Williams, Ann C AC; Relton, Caroline L CL

Publication Date: 2021-11-21

Variant appearance in text: rs2070959

PubMed Link: 34836419

Variant Present in the following documents:

• Main text
• nutrients-13-04164.pdf

View BVdb publication page

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Common UGT1A9 polymorphisms do not have a clinically meaningful impact on the apparent oral clearance of dapagliflozin in type 2 diabetes mellitus.

British Journal Of Clinical Pharmacology

Naagaard, M Daniel MD; Chang, Roy R; Någård, Mats M; Tang, Weifeng W; Boulton, David W DW

Publication Date: 2022-02

Variant appearance in text: rs2070959

PubMed Link: 34687551

Variant Present in the following documents:

• BCP-88-1942-s001.xlsx, sheet 5

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: UGT1A6: 541A>G; T181A; rs2070959

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Associations between Polymorphisms in Phase II Enzymes and Circulating Sex-Steroid Hormones in White Postmenopausal Women.

Journal Of Menopausal Medicine

Arikawa, Andrea Y AY; Samavat, Hamed H; Kurzer, Mindy S MS

Publication Date: 2021-08

Variant appearance in text: rs2070959

PubMed Link: 34463071

Variant Present in the following documents:

• Main text
• jmm-27-79.pdf

View BVdb publication page

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The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports

Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL

Publication Date: 2021-09

Variant appearance in text: rs2070959

PubMed Link: 34295994

Variant Present in the following documents:

• Main text
• HSR2-4-e327.pdf

View BVdb publication page

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The Functionality of UDP-Glucuronosyltransferase Genetic Variants and their Association with Drug Responses and Human Diseases.

Journal Of Personalized Medicine

Jarrar, Yazun Y; Lee, Su-Jun SJ

Publication Date: 2021-06-14

Variant appearance in text: rs2070959

PubMed Link: 34198586

Variant Present in the following documents:

• Main text
• jpm-11-00554.pdf

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: UGT1A6: 541A>G; T181A; rs2070959

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: UGT1A10: 855+56168A>G; rs2070959

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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Pharmacogenetics of Carbamazepine and Valproate: Focus on Polymorphisms of Drug Metabolizing Enzymes and Transporters.

Pharmaceuticals (Basel, Switzerland)

Iannaccone, Teresa T; Sellitto, Carmine C; Manzo, Valentina V; Colucci, Francesca F; Giudice, Valentina V; Stefanelli, Berenice B; Iuliano, Antonio A; Corrivetti, Giulio G; Filippelli, Amelia A

Publication Date: 2021-03-01

Variant appearance in text: rs2070959

PubMed Link: 33804537

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00204.pdf

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: UGT1A6: Thr181Ala; rs2070959

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: UGT1A6: 541A>G; T181A; rs2070959

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: rs2070959

PubMed Link: 33553069

Variant Present in the following documents:

• Main text
• fped-08-599044.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: UGT1A6: T181A; rs2070959

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Promising genes and variants to reduce chemotherapy adverse effects in acute lymphoblastic leukemia.

Translational Oncology

Bárcenas-López, Diego Alberto DA; Mendiola-Soto, Diana Karen DK; Núñez-Enríquez, Juan Carlos JC; Mejía-Aranguré, Juan Manuel JM; Hidalgo-Miranda, Alfredo A; Jiménez-Morales, Silvia S

Publication Date: 2021-01

Variant appearance in text: UGT1A6: T181A

PubMed Link: 33290991

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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The Road so Far in Colorectal Cancer Pharmacogenomics: Are We Closer to Individualised Treatment?

Journal Of Personalized Medicine

Simões, Ana Rita AR; Fernández-Rozadilla, Ceres C; Maroñas, Olalla O; Carracedo, Ángel Á

Publication Date: 2020-11-19

Variant appearance in text: UGT1A6: 541A>G; rs2070959

PubMed Link: 33228198

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Relevance of Pharmacogenetics in Serotonin Syndrome.

Case Reports In Psychiatry

Pandya, Dehuti D; Tran, My M; Verduzco-Gutierrez, Monica M

Publication Date: 2020

Variant appearance in text: UGT1A6: T181A

PubMed Link: 33101751

Variant Present in the following documents:

• CRIPS2020-8860434.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: UGT1A6: T181A

PubMed Link: 32700193

Variant Present in the following documents:

• Main text
• 40487_2018_Article_90.pdf

View BVdb publication page

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Effects of ABCB1, UGT1A1, and UGT1A9 Genetic Polymorphisms on the Pharmacokinetics of Sitafloxacin Granules in Healthy Subjects.

Clinical Pharmacology In Drug Development

Sun, Lu-Ning LN; Sun, Guo-Xian GX; Yang, Yu-Qing YQ; Shen, Ye Y; Huang, Feng-Ru FR; Xie, Li-Jun LJ; Cheng, Juan J; Zhang, Hong-Wen HW; Zhang, Xue-Hui XH; Liu, Yun Y; Wang, Yong-Qing YQ

Publication Date: 2021-01

Variant appearance in text: rs2070959

PubMed Link: 32687695

Variant Present in the following documents:

• Main text

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: UGT1A6: 541A>G; T181A; rs2070959

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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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: UGT1A6: T181A

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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A Scoping Review of Interactions between Omega-3 Long-Chain Polyunsaturated Fatty Acids and Genetic Variation in Relation to Cancer Risk.

Nutrients

Yurko-Mauro, Karin K; Van Elswyk, Mary M; Teo, Lynn L

Publication Date: 2020-06-02

Variant appearance in text: rs2070959

PubMed Link: 32498320

Variant Present in the following documents:

• Main text
• nutrients-12-01647.pdf

View BVdb publication page

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Human variability in isoform-specific UDP-glucuronosyltransferases: markers of acute and chronic exposure, polymorphisms and uncertainty factors.

Archives Of Toxicology

Kasteel, E E J EEJ; Darney, K K; Kramer, N I NI; Dorne, J L C M JLCM; Lautz, L S LS

Publication Date: 2020-08

Variant appearance in text: UGT1A6: T181A

PubMed Link: 32415340

Variant Present in the following documents:

• Main text

View BVdb publication page

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Homology Modeling of Human Uridine-5'-diphosphate-glucuronosyltransferase 1A6 Reveals Insights into Factors Influencing Substrate and Cosubstrate Binding.

Acs Omega

Smith, Alexander D AD; Page, Brent D G BDG; Collier, Abby C AC; Coughtrie, Michael W H MWH

Publication Date: 2020-03-31

Variant appearance in text: UGT1A6: T181A

PubMed Link: 32258923

Variant Present in the following documents:

• Main text
• ao0c00205.pdf
• ao0c00205_si_003.pdf

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: UGT1A6: T181A

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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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: rs2070959

PubMed Link: 31818908

Variant Present in the following documents:

• gutjnl-2019-319313supp002.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: UGT1A6: 541A>G; Thr181Ala; rs2070959

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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Age-Dependent Levels of Protein Kinase Cs in Brain: Reduction of Endogenous Mechanisms of Neuroprotection.

International Journal Of Molecular Sciences

Pastore, Donatella D; Pacifici, Francesca F; Dave, Kunjan R KR; Palmirotta, Raffaele R; Bellia, Alfonso A; Pasquantonio, Guido G; Guadagni, Fiorella F; Donadel, Giulia G; Di Daniele, Nicola N; Abete, Pasquale P; Lauro, Davide D; Rundek, Tatjana T; Perez-Pinzon, Miguel A MA; Della-Morte, David D

Publication Date: 2019-07-19

Variant appearance in text: UGT1A6: 541A>G; Thr181Ala; rs2070959

PubMed Link: 31331067

Variant Present in the following documents:

• Main text

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Nature Communications

Takata, Atsushi A; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Mizuguchi, Takeshi T; Mitsuhashi, Satomi S; Takahashi, Yukitoshi Y; Okamoto, Nobuhiko N; Osaka, Hitoshi H; Nakamura, Kazuyuki K; Tohyama, Jun J; Haginoya, Kazuhiro K; Takeshita, Saoko S; Kuki, Ichiro I; Okanishi, Tohru T; Goto, Tomohide T; Sasaki, Masayuki M; Sakai, Yasunari Y; Miyake, Noriko N; Miyatake, Satoko S; Tsuchida, Naomi N; Iwama, Kazuhiro K; Minase, Gaku G; Sekiguchi, Futoshi F; Fujita, Atsushi A; Imagawa, Eri E; Koshimizu, Eriko E; Uchiyama, Yuri Y; Hamanaka, Kohei K; Ohba, Chihiro C; Itai, Toshiyuki T; Aoi, Hiromi H; Saida, Ken K; Sakaguchi, Tomohiro T; Den, Kouhei K; Takahashi, Rina R; Ikeda, Hiroko H; Yamaguchi, Tokito T; Tsukamoto, Kazuki K; Yoshitomi, Shinsaku S; Oboshi, Taikan T; Imai, Katsumi K; Kimizu, Tomokazu T; Kobayashi, Yu Y; Kubota, Masaya M; Kashii, Hirofumi H; Baba, Shimpei S; Iai, Mizue M; Kira, Ryutaro R; Hara, Munetsugu M; Ohta, Masayasu M; Miyata, Yohane Y; Miyata, Rie R; Takanashi, Jun-Ichi JI; Matsui, Jun J; Yokochi, Kenji K; Shimono, Masayuki M; Amamoto, Masano M; Takayama, Rumiko R; Hirabayashi, Shinichi S; Aiba, Kaori K; Matsumoto, Hiroshi H; Nabatame, Shin S; Shiihara, Takashi T; Kato, Mitsuhiro M; Matsumoto, Naomichi N

Publication Date: 2019-06-07

Variant appearance in text: UGT1A6: 541A>G; Thr181Ala

PubMed Link: 31175295

Variant Present in the following documents:

• 41467_2019_10482_MOESM8_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: UGT1A6: T181A; rs2070959

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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Bioinformatic Analysis of Gene Variants from Gastroschisis Recurrence Identifies Multiple Novel Pathogenetic Pathways: Implication for the Closure of the Ventral Body Wall.

International Journal Of Molecular Sciences

Salinas-Torres, Víctor M VM; Gallardo-Blanco, Hugo L HL; Salinas-Torres, Rafael A RA; Cerda-Flores, Ricardo M RM; Lugo-Trampe, José J JJ; Villarreal-Martínez, Daniel Z DZ; Martínez de Villarreal, Laura E LE

Publication Date: 2019-05-09

Variant appearance in text: rs2070959

PubMed Link: 31075877

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recent Developments in Metal-Based Drugs and Chelating Agents for Neurodegenerative Diseases Treatments.

International Journal Of Molecular Sciences

Sales, Thais A TA; Prandi, Ingrid G IG; Castro, Alexandre A de AA; Leal, Daniel H S DHS; Cunha, Elaine F F da EFFD; Kuca, Kamil K; Ramalho, Teodorico C TC

Publication Date: 2019-04-12

Variant appearance in text: UGT1A6: Thr181Ala

PubMed Link: 31013856

Variant Present in the following documents:

• ijms-20-01829.pdf

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: UGT1A6: T181A; rs2070959

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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