Publications:

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Pharmacogenomic-guided dosing of fluoropyrimidines beyond DPYD: time for a polygenic algorithm?

Frontiers In Pharmacology

Maslarinou, Anthi A; Manolopoulos, Vangelis G VG; Ragia, Georgia G

Publication Date: 2023

Variant appearance in text: rs11479

PubMed Link: 37256234

Variant Present in the following documents:

• Main text
• fphar-14-1184523.pdf

View BVdb publication page

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Rs11479 in Thymidine Phosphorylase Associated with Prognosis of Patients with Colorectal Cancer Who Received Capecitabine-Based Adjuvant Chemotherapy.

Pharmacogenomics And Personalized Medicine

Jia, Xiongjie X; Zhang, Tao T; Sun, Junjie J; Lin, Hengxue H; Bai, Tianliang T; Qiao, Yating Y; Li, Yaxin Y; Li, Gang G; Li, Guicun G; Peng, Xinyu X; Zhang, Aimin A

Publication Date: 2023

Variant appearance in text: rs11479

PubMed Link: 37025557

Variant Present in the following documents:

• Main text
• pgpm-16-277.pdf

View BVdb publication page

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A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5'-nucleotidase deficiency.

Cellular & Molecular Biology Letters

Bogusławska, Dżamila M DM; Skulski, Michał M; Bartoszewski, Rafał R; Machnicka, Beata B; Heger, Elżbieta E; Kuliczkowski, Kazimierz K; Sikorski, Aleksander F AF

Publication Date: 2022-11-24

Variant appearance in text: rs11479

PubMed Link: 36434495

Variant Present in the following documents:

• Main text

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: rs11479

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs11479

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.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: rs11479

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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The use of pharmacogenetics to increase the safety of colorectal cancer patients treated with fluoropyrimidines.

Cancer Drug Resistance (Alhambra, Calif.)

De Mattia, Elena E; Roncato, Rossana R; Dalle Fratte, Chiara C; Ecca, Fabrizio F; Toffoli, Giuseppe G; Cecchin, Erika E

Publication Date: 2019

Variant appearance in text: rs11479

PubMed Link: 35582139

Variant Present in the following documents:

• cdr-2-116.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: rs11479

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: rs11479

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.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: rs11479

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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Polymorphisms of ADME-related genes and their implications for drug safety and efficacy in Amazonian Amerindians.

Scientific Reports

Rodrigues, Juliana Carla Gomes JCG; Fernandes, Marianne Rodrigues MR; Guerreiro, João Farias JF; da Silva, Artur Luiz da Costa ALDC; Ribeiro-Dos-Santos, Ândrea Â; Santos, Sidney S; Santos, Ney Pereira Carneiro Dos NPCD

Publication Date: 2019-05-10

Variant appearance in text: rs11479

PubMed Link: 31076604

Variant Present in the following documents:

• Main text
• 41598_2019_Article_43610.pdf

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: rs11479

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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Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications

Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J

Publication Date: 2018-03-02

Variant appearance in text: rs11479

PubMed Link: 29500430

Variant Present in the following documents:

• 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Thymidine phosphorylase: A potential new target for treating cardiovascular disease.

Trends In Cardiovascular Medicine

Li, Wei W; Yue, Hong H

Publication Date: 2018-04

Variant appearance in text: rs11479

PubMed Link: 29108898

Variant Present in the following documents:

• Main text

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: rs11479

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Standard versus continuous administration of capecitabine in metastatic breast cancer (GEICAM/2009-05): a randomized, noninferiority phase II trial with a pharmacogenetic analysis.

The Oncologist

Martín, Miguel M; Martínez, Noelia N; Ramos, Manuel M; Calvo, Lourdes L; Lluch, Ana A; Zamora, Pilar P; Muñoz, Montserrat M; Carrasco, Eva E; Caballero, Rosalía R; García-Sáenz, José Ángel JÁ; Guerra, Eva E; Caronia, Daniela D; Casado, Antonio A; Ruíz-Borrego, Manuel M; Hernando, Blanca B; Chacón, José Ignacio JI; De la Torre-Montero, Julio César JC; Jimeno, María Ángeles MÁ; Heras, Lucía L; Alonso, Rosario R; De la Haba, Juan J; Pita, Guillermo G; Constenla, Manuel M; González-Neira, Anna A

Publication Date: 2015-02

Variant appearance in text: rs11479

PubMed Link: 25601966

Variant Present in the following documents:

• Main text

View BVdb publication page

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Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Plos One

Wang, Jingbo J; Wang, Xu X; Zhao, Mingjue M; Choo, Su Pin SP; Ong, Sin Jen SJ; Ong, Simon Y K SY; Chong, Samuel S SS; Teo, Yik Ying YY; Lee, Caroline G L CG

Publication Date: 2014

Variant appearance in text: rs11479

PubMed Link: 25372392

Variant Present in the following documents:

• Main text
• pone.0111694.pdf

View BVdb publication page

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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: rs11479

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs11479

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Thymidine phosphorylase gene variant, platelet counts and survival in gastrointestinal cancer patients treated by fluoropyrimidines.

Scientific Reports

Huang, Liu L; Chen, Fengju F; Chen, Yangyang Y; Yang, Xiaomei X; Xu, Sanpeng S; Ge, Shuwang S; Fu, Shengling S; Chao, Tengfei T; Yu, Qianqian Q; Liao, Xin X; Hu, Guangyuan G; Zhang, Peng P; Yuan, Xianglin X

Publication Date: 2014-07-16

Variant appearance in text: rs11479

PubMed Link: 25027354

Variant Present in the following documents:

• srep05697.pdf

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs11479

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2
• mmc5.xlsx, sheet 3

View BVdb publication page

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Evaluating predictive pharmacogenetic signatures of adverse events in colorectal cancer patients treated with fluoropyrimidines.

Plos One

Jennings, Barbara A BA; Loke, Yoon K YK; Skinner, Jane J; Keane, Melanie M; Chu, Gavin S GS; Turner, Richard R; Epurescu, Daniel D; Barrett, Ann A; Willis, Gavin G

Publication Date: 2013

Variant appearance in text: rs11479

PubMed Link: 24167597

Variant Present in the following documents:

• pone.0078053.s003.xls, sheet 1

View BVdb publication page

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Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Nucleic Acids Research

Wang, Wenyi W; Shen, Peidong P; Thiyagarajan, Sreedevi S; Lin, Shengrong S; Palm, Curtis C; Horvath, Rita R; Klopstock, Thomas T; Cutler, David D; Pique, Lynn L; Schrijver, Iris I; Davis, Ronald W RW; Mindrinos, Michael M; Speed, Terence P TP; Scharfe, Curt C

Publication Date: 2011-01

Variant appearance in text: rs11479

PubMed Link: 20843780

Variant Present in the following documents:

• supp_gkq750_NAR-WangWetal-SuppTable-6.xls, sheet 1

View BVdb publication page

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