Publications:

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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: NR1I2: 197+55G>A; rs1464603

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Pharmacogenetics Approach for the Improvement of COVID-19 Treatment.

Viruses

Fricke-Galindo, Ingrid I; Falfán-Valencia, Ramcés R

Publication Date: 2021-03-05

Variant appearance in text: rs1464603

PubMed Link: 33807592

Variant Present in the following documents:

• Main text
• viruses-13-00413.pdf

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Steroid hormone-related polymorphisms associate with the development of bone erosions in rheumatoid arthritis and help to predict disease progression: Results from the REPAIR consortium.

Scientific Reports

Sánchez-Maldonado, Jose M JM; Cáliz, Rafael R; Canet, Luz L; Horst, Rob Ter RT; Bakker, Olivier O; den Broeder, Alfons A AA; Martínez-Bueno, Manuel M; Canhão, Helena H; Rodríguez-Ramos, Ana A; Lupiañez, Carmen B CB; Soto-Pino, María José MJ; García, Antonio A; Pérez-Pampin, Eva E; González-Utrilla, Alfonso A; Escudero, Alejandro A; Segura-Catena, Juana J; Netea-Maier, Romana T RT; Ferrer, Miguel Ángel MÁ; Collantes-Estevez, Eduardo E; López Nevot, Miguel Ángel MÁ; Li, Yang Y; Jurado, Manuel M; Fonseca, João E JE; Netea, Mihai G MG; Coenen, Marieke J H MJH; Sainz, Juan J

Publication Date: 2019-10-15

Variant appearance in text: rs1464603

PubMed Link: 31616008

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51255.pdf

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Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users.

Obstetrics And Gynecology

Lazorwitz, Aaron A; Aquilante, Christina L CL; Oreschak, Kris K; Sheeder, Jeanelle J; Guiahi, Maryam M; Teal, Stephanie S

Publication Date: 2019-04

Variant appearance in text: rs1464603

PubMed Link: 30870275

Variant Present in the following documents:

• Main text

View BVdb publication page

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Population Pharmacokinetics of Tacrolimus in Transplant Recipients: What Did We Learn About Sources of Interindividual Variabilities?

Journal Of Clinical Pharmacology

Campagne, Olivia O; Mager, Donald E DE; Tornatore, Kathleen M KM

Publication Date: 2019-03

Variant appearance in text: rs1464603

PubMed Link: 30371942

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: rs1464603

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• 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: rs1464603

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Association between PXR polymorphisms and cancer risk: a systematic review and meta-analysis.

Bioscience Reports

Wen, Jing J; Lv, Zhi Z; Ding, Hanxi H; Fang, Xinxin X; Sun, Mingjun M

Publication Date: 2018-06-29

Variant appearance in text: rs1464603

PubMed Link: 29654162

Variant Present in the following documents:

• Main text
• bsr-38-bsr20171614.pdf

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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: rs1464603

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: rs1464603

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

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SLC22A1-ABCB1 haplotype profiles predict imatinib pharmacokinetics in Asian patients with chronic myeloid leukemia.

Plos One

Singh, Onkar O; Chan, Jason Yongsheng JY; Lin, Keegan K; Heng, Charles Chuah Thuan CC; Chowbay, Balram B

Publication Date: 2012

Variant appearance in text: rs1464603

PubMed Link: 23272163

Variant Present in the following documents:

• Main text

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PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients.

Bmc Medical Genetics

Swart, Marelize M; Whitehorn, Heather H; Ren, Yuan Y; Smith, Peter P; Ramesar, Rajkumar S RS; Dandara, Collet C

Publication Date: 2012-11-22

Variant appearance in text: rs1464603

PubMed Link: 23173844

Variant Present in the following documents:

• Main text
• 1471-2350-13-112.pdf

View BVdb publication page

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Explaining variability in ciclosporin exposure in adult kidney transplant recipients.

European Journal Of Clinical Pharmacology

Press, Rogier R RR; Ploeger, Bart A BA; den Hartigh, Jan J; van der Straaten, T T; van Pelt, Hans H; Danhof, Meindert M; de Fijter, Hans H; Guchelaar, Henk-Jan HJ

Publication Date: 2010-06

Variant appearance in text: rs1464603

PubMed Link: 20354687

Variant Present in the following documents:

• Main text
• 228_2010_Article_810.pdf

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Identification of polymorphisms in the 3'-untranslated region of the human pregnane X receptor (PXR) gene associated with variability in cytochrome P450 3A (CYP3A) metabolism.

Xenobiotica; The Fate Of Foreign Compounds In Biological Systems

Oleson, L L; von Moltke, L L LL; Greenblatt, D J DJ; Court, M H MH

Publication Date: 2010-02

Variant appearance in text: rs1464603

PubMed Link: 20082578

Variant Present in the following documents:

• Main text

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Lack of association of the pregnane X receptor (PXR/NR1I2) gene with inflammatory bowel disease: parallel allelic association study and gene wide haplotype analysis.

Gut

Ho, G-T GT; Soranzo, N N; Tate, S K SK; Drummond, H H; Nimmo, E R ER; Tenesa, A A; Arnott, I D ID; Satsangi, J J

Publication Date: 2006-11

Variant appearance in text: rs1464603

PubMed Link: 17047126

Variant Present in the following documents:

• Main text

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