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: rs17863778

PubMed Link: 37261288

Variant Present in the following documents:

• DataSheet1.pdf

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: R131R

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: R131R

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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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: rs17863778

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: rs17863778

PubMed Link: 34687551

Variant Present in the following documents:

• BCP-88-1942-s001.xlsx, sheet 5

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: 391C>A; R131R; rs17863778

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: Arg131Arg; rs17863778

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: 391C>A; R131R; rs17863778

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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

Pharmacogenomics And Personalized Medicine

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

Publication Date: 2020

Variant appearance in text: UGT1A7: 391C>A; rs17863778

PubMed Link: 33116761

Variant Present in the following documents:

• Main text
• pgpm-13-463.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: UGT1A7: R131R; rs17863778

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, 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: 391C>A; Arg131=; rs17863778

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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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: UGT1A7: 391C>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

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: 391C>A; Arg131Arg; rs17863778

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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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: rs17863778

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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PharmGKB summary: atazanavir pathway, pharmacokinetics/pharmacodynamics.

Pharmacogenetics And Genomics

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

Publication Date: 2018-05

Variant appearance in text: UGT1A7: R131R; rs17863778

PubMed Link: 29517518

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs17863778

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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: rs17863778

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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: 391C>A

PubMed Link: 28620445

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: UGT1A7: 391C>A; Arg131Arg; rs17863778

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: rs17863778

PubMed Link: 27895797

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs17863778

PubMed Link: 27655273

Variant Present in the following documents:

• Main text
• pone.0161102.pdf

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: UGT1A7: R131R; rs17863778

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 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: rs17863778

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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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: N/A

PubMed Link: 25333361

Variant Present in the following documents:

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: rs17863778

PubMed Link: 24051964

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Genetics And Molecular Biology

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

Publication Date: 2012-04

Variant appearance in text: UGT1A7: Arg131Arg; rs17863778

PubMed Link: 22888291

Variant Present in the following documents:

• Main text
• gmb-35-2-428.pdf

View BVdb publication page

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

Plos One

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

Publication Date: 2012

Variant appearance in text: rs17863778

PubMed Link: 22514612

Variant Present in the following documents:

View BVdb publication page

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Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.

American Journal Of Human Genetics

Shi, Min M; Christensen, Kaare K; Weinberg, Clarice R CR; Romitti, Paul P; Bathum, Lise L; Lozada, Anthony A; Morris, Richard W RW; Lovett, Michael M; Murray, Jeffrey C JC

Publication Date: 2007-01

Variant appearance in text: rs17863778

PubMed Link: 17160896

Variant Present in the following documents:

• Main text

View BVdb publication page

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