Publications:

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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: UGT1A7: W208R; rs11692021

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: UGT1A7: W208R; rs11692021

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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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: UGT1A7: W208R; rs11692021

PubMed Link: 36639636

Variant Present in the following documents:

• 13046_2022_2585_MOESM1_ESM.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs11692021

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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: UGT1A7: W208R

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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The UGT1A9*22 genotype identifies a high-risk group for irinotecan toxicity among gastric cancer patients.

Genomics & Informatics

Lee, Choong-Kun CK; Chon, Hong Jae HJ; Kwon, Woo Sun WS; Ban, Hyo-Jeong HJ; Kim, Sang Cheol SC; Kim, Hyunwook H; Jeung, Hei-Cheul HC; Chung, Jimyung J; Rha, Sun Young SY

Publication Date: 2022-09

Variant appearance in text: UGT1A7: W208R

PubMed Link: 36239106

Variant Present in the following documents:

• gi-22051.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: UGT1A7: W208R

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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Use of Pharmacogenetics to Optimize Immunosuppressant Therapy in Kidney-Transplanted Patients.

Biomedicines

Urzì Brancati, Valentina V; Scarpignato, Carmelo C; Minutoli, Letteria L; Pallio, Giovanni G

Publication Date: 2022-07-26

Variant appearance in text: rs11692021

PubMed Link: 35892699

Variant Present in the following documents:

• biomedicines-10-01798.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: UGT1A7: W208R; rs11692021

PubMed Link: 35004944

Variant Present in the following documents:

• Main text

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: UGT1A7: W208R; rs11692021

PubMed Link: 34687551

Variant Present in the following documents:

• BCP-88-1942-s001.xlsx, sheet 6

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: rs11692021

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: rs11692021

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: UGT1A7: 622T>C; W208R; rs11692021

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+45182T>C; rs11692021

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: UGT1A7: Trp208Arg; rs11692021

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: UGT1A7: 622T>C; W208R; rs11692021

PubMed Link: 33420045

Variant Present in the following documents:

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

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: UGT1A9: 855+9770T>C; rs11692021

PubMed Link: 33228198

Variant Present in the following documents:

• Main text
• jpm-10-00237.pdf

View BVdb publication page

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UDP-glucuronosyltransferase polymorphisms affect diethylnitrosamine-induced carcinogenesis in humanized transgenic mice.

Cancer Science

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

Publication Date: 2020-11

Variant appearance in text: UGT1A7: Trp208Arg

PubMed Link: 32860300

Variant Present in the following documents:

• Main text

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: UGT1A7: W208R

PubMed Link: 32700193

Variant Present in the following documents:

• Main text
• 40487_2018_Article_90.pdf

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: UGT1A7: W208R

PubMed Link: 32548889

Variant Present in the following documents:

• Main text
• BPH-177-4193.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: UGT1A7: W208R

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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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: UGT1A7: 622T>C; Trp208Arg; rs11692021

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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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: UGT1A7: W208R; rs11692021

PubMed Link: 31597922

Variant Present in the following documents:

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

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: rs11692021

PubMed Link: 31075877

Variant Present in the following documents:

• Main text
• ijms-20-02295.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: UGT1A7: W208R; rs11692021

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: UGT1A7: 622T>C; Trp208Arg; rs11692021

PubMed Link: 30814510

Variant Present in the following documents:

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

View BVdb publication page

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Effects of genetic variability on rifampicin and isoniazid pharmacokinetics in South African patients with recurrent tuberculosis.

Pharmacogenomics

Naidoo, Anushka A; Chirehwa, Maxwell M; Ramsuran, Veron V; McIlleron, Helen H; Naidoo, Kogieleum K; Yende-Zuma, Nonhlanhla N; Singh, Ravesh R; Ncgapu, Sinaye S; Adamson, John J; Govender, Katya K; Denti, Paolo P; Padayatchi, Nesri N

Publication Date: 2019-03

Variant appearance in text: rs11692021

PubMed Link: 30767706

Variant Present in the following documents:

• Main text

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: UGT1A7: W208R; rs11692021

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: rs11692021

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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GSTP1 rs1695 is associated with both hematological toxicity and prognosis of ovarian cancer treated with paclitaxel plus carboplatin combination chemotherapy: a comprehensive analysis using targeted resequencing of 100 pharmacogenes.

Oncotarget

Yoshihama, Tomoko T; Fukunaga, Koya K; Hirasawa, Akira A; Nomura, Hiroyuki H; Akahane, Tomoko T; Kataoka, Fumio F; Yamagami, Wataru W; Aoki, Daisuke D; Mushiroda, Taisei T

Publication Date: 2018-07-03

Variant appearance in text: rs11692021

PubMed Link: 30038720

Variant Present in the following documents:

• Main text
• oncotarget-09-29789.pdf

View BVdb publication page

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Uridine 5'-diphospho-glucronosyltrasferase: Its role in pharmacogenomics and human disease.

Experimental And Therapeutic Medicine

Sanchez-Dominguez, Celia N CN; Gallardo-Blanco, Hugo L HL; Salinas-Santander, Mauricio A MA; Ortiz-Lopez, Rocio R

Publication Date: 2018-07

Variant appearance in text: rs11692021

PubMed Link: 29896223

Variant Present in the following documents:

• Main text

View BVdb publication page

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Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Oncotarget

Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D

Publication Date: 2017-12-01

Variant appearance in text: UGT1A7: W208R

PubMed Link: 29285300

Variant Present in the following documents:

• oncotarget-08-105882-s002.xlsx, sheet 1

View BVdb publication page

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Common variants in glucuronidation enzymes and membrane transporters as potential risk factors for colorectal cancer: a case control study.

Bmc Cancer

Falkowski, Sabrina S; Woillard, Jean-Baptiste JB; Postil, Deborah D; Tubiana-Mathieu, Nicole N; Terrebonne, Eric E; Pariente, Antoine A; Smith, Denis D; Guimbaud, Rosine R; Thalamas, Claire C; Rouguieg-Malki, Koukeb K; Marquet, Pierre P; Picard, Nicolas N

Publication Date: 2017-12-28

Variant appearance in text: rs11692021

PubMed Link: 29282011

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3728.pdf

View BVdb publication page

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Effect of genetic variation in UGT1A and ABCB1 on moxifloxacin pharmacokinetics in South African patients with tuberculosis.

Pharmacogenomics

Naidoo, Anushka A; Ramsuran, Veron V; Chirehwa, Maxwell M; Denti, Paolo P; McIlleron, Helen H; Naidoo, Kogieleum K; Yende-Zuma, Nonhlanhla N; Singh, Ravesh R; Ngcapu, Sinaye S; Chaudhry, Mamoonah M; Pepper, Michael S MS; Padayatchi, Nesri N

Publication Date: 2018-01

Variant appearance in text: rs11692021

PubMed Link: 29210323

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms in human UDP-glucuronosyltransferases 1A7 and the risk of gastrointestinal carcinomas: A systematic review and network meta-analysis.

Oncotarget

Zhang, Yingshi Y; Hou, Jun J; Feng, Fan F; Li, Dandan D; Jiang, Qiyu Q; Li, Xiaojuan X; Zhao, Qingchun Q; Li, Bo-An BA

Publication Date: 2017-09-12

Variant appearance in text: UGT1A7: W208R

PubMed Link: 29029519

Variant Present in the following documents:

• oncotarget-08-66371.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs11692021

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Examination of multiple UGT1A and DPYD polymorphisms has limited ability to predict the toxicity and efficacy of metastatic colorectal cancer treated with irinotecan-based chemotherapy: a retrospective analysis.

Bmc Cancer

Liu, Dan D; Li, Jian J; Gao, Jing J; Li, Yanyan Y; Yang, Rui R; Shen, Lin L

Publication Date: 2017-06-20

Variant appearance in text: UGT1A7: 622T>C

PubMed Link: 28637434

Variant Present in the following documents:

• 12885_2017_Article_3406.pdf

View BVdb publication page

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Unusual gastrointestinal and cutaneous toxicities by bleomycin, etoposide, and cisplatin: a case report with pharmacogenetic analysis to personalize treatment.

The Epma Journal

Del Re, Marzia M; Latiano, Tiziana T; Fidilio, Leonardo L; Restante, Giuliana G; Morelli, Franco F; Maiello, Evaristo E; Danesi, Romano R

Publication Date: 2017-03

Variant appearance in text: UGT1A7: 622T>C

PubMed Link: 28620445

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of UDP-glucuronosyltransferase polymorphisms (UGT1A6∗2, 1A7∗12, 1A8∗3, 1A9∗3, 2B7∗2, and 2B15∗2) in a Saudi population.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society

Alkharfy, Khalid M KM; Jan, Basit L BL; Afzal, Sibtain S; Al-Jenoobi, Fahad I FI; Al-Mohizea, Abdullah M AM; Al-Muhsen, Saleh S; Halwani, Rabih R; Parvez, Mohammad K MK; Al-Dosari, Mohammed S MS

Publication Date: 2017-02

Variant appearance in text: UGT1A7: W208R

PubMed Link: 28344472

Variant Present in the following documents:

• Main text
• main.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: UGT1A7: 622T>C; rs11692021

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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UGT1A1*6, UGT1A7*3 and UGT1A9*1b polymorphisms are predictive markers for severe toxicity in patients with metastatic gastrointestinal cancer treated with irinotecan-based regimens.

Oncology Letters

Cui, Chengxu C; Shu, Chang C; Cao, Dandan D; Yang, Yi Y; Liu, Junbao J; Shi, Shuping S; Shao, Zhujun Z; Wang, Nan N; Yang, Ting T; Liang, Hao H; Zou, Shanshan S; Hu, Songnian S

Publication Date: 2016-11

Variant appearance in text: UGT1A7: W208R; rs11692021

PubMed Link: 27895797

Variant Present in the following documents:

• Main text

View BVdb publication page

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Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Oncotarget

Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP

Publication Date: 2016-11-22

Variant appearance in text: UGT1A7: W208R

PubMed Link: 27791198

Variant Present in the following documents:

• oncotarget-07-77163-s002.xlsx, sheet 10
• oncotarget-07-77163-s003.xlsx, sheet 10

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Fire Usage and Ancient Hominin Detoxification Genes: Protective Ancestral Variants Dominate While Additional Derived Risk Variants Appear in Modern Humans.

Plos One

Aarts, Jac M M J G JM; Alink, Gerrit M GM; Scherjon, Fulco F; MacDonald, Katharine K; Smith, Alison C AC; Nijveen, Harm H; Roebroeks, Wil W

Publication Date: 2016

Variant appearance in text: UGT1A7: Trp208Arg; rs11692021

PubMed Link: 27655273

Variant Present in the following documents:

• Main text
• pone.0161102.pdf

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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: UGT1A7: W208R

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

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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: rs11692021

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: UGT1A7: W208R; rs11692021

PubMed Link: 25944692

Variant Present in the following documents:

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

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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: UGT1A7: W208R; rs11692021

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

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Associations of UDP-glucuronosyltransferases polymorphisms with mycophenolate mofetil pharmacokinetics in Chinese renal transplant patients.

Acta Pharmacologica Sinica

Xie, Xiao-chun XC; Li, Jun J; Wang, Hong-yang HY; Li, Hong-liang HL; Liu, Jing J; Fu, Qian Q; Huang, Jia-wen JW; Zhu, Chen C; Zhong, Guo-ping GP; Wang, Xue-ding XD; Sun, Ping-ping PP; Huang, Min M; Wang, Chang-xi CX; Li, Jia-li JL

Publication Date: 2015-05

Variant appearance in text: rs11692021

PubMed Link: 25864649

Variant Present in the following documents:

• Main text

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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: UGT1A7: W208R; rs11692021

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: UGT1A7: W208R; rs11692021

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: UGT1A7: W208R

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s003.xls, sheet 3
• pone.0109576.s002.xls, sheet 3

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XELIRI compared with FOLFIRI as a second-line treatment in patients with metastatic colorectal cancer.

Oncology Letters

Cui, Chengxu C; Shu, Chang C; Yang, Yi Y; Liu, Junbao J; Shi, Shuping S; Shao, Zhujun Z; Wang, Nan N; Yang, Ting T; Hu, Songnian S

Publication Date: 2014-10

Variant appearance in text: rs11692021

PubMed Link: 25202427

Variant Present in the following documents:

• Main text

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A novel system for predicting the toxicity of irinotecan based on statistical pattern recognition with UGT1A genotypes.

International Journal Of Oncology

Tsunedomi, Ryouichi R; Hazama, Shoichi S; Fujita, Yusuke Y; Okayama, Naoko N; Kanekiyo, Shinsuke S; Inoue, Yuka Y; Yoshino, Shigefumi S; Yamasaki, Takahiro T; Suehiro, Yutaka Y; Oba, Koji K; Mishima, Hideyuki H; Sakamoto, Junichi J; Hamamoto, Yoshihiko Y; Oka, Masaaki M

Publication Date: 2014-10

Variant appearance in text: rs11692021

PubMed Link: 25175642

Variant Present in the following documents:

• Main text

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Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years.

World Journal Of Gastroenterology

Panczyk, Mariusz M

Publication Date: 2014-08-07

Variant appearance in text: UGT1A7: Trp208Arg

PubMed Link: 25110414

Variant Present in the following documents:

• Main text

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Polymorphisms of uridine glucuronosyltransferase gene and irinotecan toxicity: low dose does not protect from toxicity.

Ecancermedicalscience

Tziotou, Marianna M; Kalotychou, Vassiliki V; Ntokou, Anna A; Tzanetea, Revekka R; Armenis, Iakovos I; Varsou, Marianna M; Konstantopoulos, Konstantinos K; Tsavaris, Nicolas N; Rombos, Yannis Y

Publication Date: 2014

Variant appearance in text: UGT1A7: W208R

PubMed Link: 24834123

Variant Present in the following documents:

• Main text

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