Publications:

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Enhanced toxicity to chemoradiation in a patient with Anti-Jo-1-antisynthetase syndrome.

Bjr Case Reports

Valle, Luca L; Katz, James J; Duffy, Austin A; Hueman, Matthew M; Wang, Hao-Wei HW; Hughes, Marybeth M; Sissung, Tristan T; Figg, William W; Citrin, Deborah D

Publication Date: 2022-09

Variant appearance in text: rs4148551

PubMed Link: 36101738

Variant Present in the following documents:

• Main text
• bjrcr.20210188.pdf

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: rs4148551

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, 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: rs4148551

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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Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population.

Molecular Genetics & Genomic Medicine

Monte, Natasha N; Pantoja, Karla B C C KBCC; Rodrigues, Juliana C G JCG; de Carvalho, Darlen C DC; Azevedo, Tereza C B TCB; Pereira, Esdras E B EEB; de Assumpção, Paulo P PP; Dos Santos, Sidney E B SEB; Fernandes, Marianne R MR; Dos Santos, Ney P C NPC

Publication Date: 2021-07

Variant appearance in text: rs4148551

PubMed Link: 34050721

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population.

Molecular Genetics & Genomic Medicine

Monte, Natasha N; Pantoja, Karla B C C KBCC; Rodrigues, Juliana C G JCG; de Carvalho, Darlen C DC; Azevedo, Tereza C B TCB; Pereira, Esdras E B EEB; de Assumpção, Paulo P PP; Dos Santos, Sidney E B SEB; Fernandes, Marianne R MR; Dos Santos, Ney P C NPC

Publication Date: 2021-07

Variant appearance in text: rs4148551

PubMed Link: 34050721

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacogenetics of tenofovir and emtricitabine penetration into cerebrospinal fluid.

Southern African Journal Of Hiv Medicine

Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; Wiesner, Lubbe L; Joska, John A JA; Haas, David W DW; Maartens, Gary G

Publication Date: 2021

Variant appearance in text: rs4148551

PubMed Link: 34007475

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms of xenobiotic-metabolizing and transporter genes, and the risk of gastric and colorectal cancer in an admixed population from the Brazilian Amazon.

American Journal Of Translational Research

de Castro, Amanda Nazaré Cohen Lima ANCL; Fernandes, Marianne Rodrigues MR; de Carvalho, Darlen Cardoso DC; de Souza, Tatiane Piedade TP; Rodrigues, Juliana Carla Gomes JCG; Andrade, Roberta Borges RB; Modesto, Antonio Andre Conde AAC; Santos, Sidney S; Assumpção, Paulo Pimentel PP; Dos Santos, Ney Pereira Carneiro NPC

Publication Date: 2020

Variant appearance in text: rs4148551

PubMed Link: 33194059

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: rs4148551

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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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: rs4148551

PubMed Link: 31076604

Variant Present in the following documents:

• Main text
• 41598_2019_Article_43610.pdf

View BVdb publication page

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Pharmacogenetics and pharmacokinetics of CNS penetration of efavirenz and its metabolites.

The Journal Of Antimicrobial Chemotherapy

Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; van Zyl, Gert U GU; Wiesner, Lubbe L; Khoo, Saye S; Joska, John A JA; Haas, David W DW; Maartens, Gary G

Publication Date: 2019-03-01

Variant appearance in text: rs4148551

PubMed Link: 30535366

Variant Present in the following documents:

• Main text

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: rs4148551

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs4148551

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs4148551

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Pharmacogenetic Analysis of the Model-Based Pharmacokinetics of Five Anti-HIV Drugs: How Does This Influence the Effect of Aging?

Clinical And Translational Science

Chen, Jingxian J; Akhtari, Farida S FS; Wagner, Michael J MJ; Suzuki, Oscar O; Wiltshire, Tim T; Motsinger-Reif, Alison A AA; Dumond, Julie B JB

Publication Date: 2018-03

Variant appearance in text: rs4148551

PubMed Link: 29205871

Variant Present in the following documents:

• Main text
• CTS-11-226.pdf

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs4148551

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Population-Specific Resequencing Associates the ATP-Binding Cassette Subfamily C Member 4 Gene With Gout in New Zealand Māori and Pacific Men.

Arthritis & Rheumatology (Hoboken, N.J.)

Tanner, Callum C; Boocock, James J; Stahl, Eli A EA; Dobbyn, Amanda A; Mandal, Asim K AK; Cadzow, Murray M; Phipps-Green, Amanda J AJ; Topless, Ruth K RK; Hindmarsh, Jennie Harré JH; Stamp, Lisa K LK; Dalbeth, Nicola N; Choi, Hyon K HK; Mount, David B DB; Merriman, Tony R TR

Publication Date: 2017-07

Variant appearance in text: rs4148551

PubMed Link: 28371506

Variant Present in the following documents:

• Main text

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: rs4148551

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs4148551

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

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: rs4148551

PubMed Link: 25372392

Variant Present in the following documents:

• Main text
• pone.0111694.pdf

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs4148551

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Pharmacogenomic characterization of gemcitabine response--a framework for data integration to enable personalized medicine.

Pharmacogenetics And Genomics

Harris, Michael M; Bhuvaneshwar, Krithika K; Natarajan, Thanemozhi T; Sheahan, Laura L; Wang, Difei D; Tadesse, Mahlet G MG; Shoulson, Ira I; Filice, Ross R; Steadman, Kenneth K; Pishvaian, Michael J MJ; Madhavan, Subha S; Deeken, John J

Publication Date: 2014-02

Variant appearance in text: rs4148551

PubMed Link: 24401833

Variant Present in the following documents:

• Main text

View BVdb publication page

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ABCC4 is regulated by microRNA-124a and microRNA-506.

Biochemical Pharmacology

Markova, Svetlana M SM; Kroetz, Deanna L DL

Publication Date: 2014-02-01

Variant appearance in text: rs4148551

PubMed Link: 24184504

Variant Present in the following documents:

• Main text

View BVdb publication page

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