Publications:

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Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits.

Scientific Reports

Deming, Yuetiva Y; Xia, Jian J; Cai, Yefei Y; Lord, Jenny J; Del-Aguila, Jorge L JL; Fernandez, Maria Victoria MV; Carrell, David D; Black, Kathleen K; Budde, John J; Ma, ShengMei S; Saef, Benjamin B; Howells, Bill B; Bertelsen, Sarah S; Bailey, Matthew M; Ridge, Perry G PG; , ; Holtzman, David D; Morris, John C JC; Bales, Kelly K; Pickering, Eve H EH; Lee, Jin-Moo JM; Heitsch, Laura L; Kauwe, John J; Goate, Alison A; Piccio, Laura L; Cruchaga, Carlos C

Publication Date: 2016-01-04

Variant appearance in text: rs4646272

PubMed Link: 36647296

Variant Present in the following documents:

• srep18092-s1.pdf
• srep18092.pdf

View BVdb publication page

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Pharmacogenetics of chemotherapy treatment response and -toxicities in patients with osteosarcoma: a systematic review.

Bmc Cancer

Hurkmans, Evelien G E EGE; Brand, Annouk C A M ACAM; Verdonschot, Job A J JAJ; Te Loo, D Maroeska W M DMWM; Coenen, Marieke J H MJH

Publication Date: 2022-12-19

Variant appearance in text: rs4646272

PubMed Link: 36536332

Variant Present in the following documents:

• Main text
• 12885_2022_Article_10434.pdf
• 12885_2022_10434_MOESM2_ESM.pdf

View BVdb publication page

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Variants of SLC2A10 may be Linked to Poor Response to Metformin.

Journal Of The Endocrine Society

Paz-Pacheco, Elizabeth E; Nevado, Jose B JB; Cutiongco-de la Paz, Eva Maria C EMC; Jasul, Gabriel V GV; Aman, Aimee Yvonne Criselle L AYCL; Ribaya, Elizabeth Laurize A ELA; Francisco, Mark David G MDG; Guanzon, Ma Luz Vicenta V MLVV; Uyking-Naranjo, May L ML; Añonuevo-Cruz, Ma Cecille S MCS; Maningat, Maria Patricia Deanna D MPDD; Jaring, Cristina V CV; Nacpil-Dominguez, Paulette D PD; Pala-Mohamad, Aniza B AB; Canto, Abigail U AU; Quisumbing, John Paul M JPM; Lat, Annabelle Marie M AMM; Bernardo, Diane Carla C DCC; Mansibang, Noemie Marie M NMM; Calpito, Karell Jo Angelique C KJAC; Ribaya, Vincent Sean D VSD; Ferrer, Julius Patrick Y JPY; Biwang, Jessica H JH; Melegrito, Jodelyn B JB; Deguit, Christian Deo T CDT; Panerio, Carlos Emmanuel G CEG

Publication Date: 2022-08-01

Variant appearance in text: rs4646272

PubMed Link: 35854978

Variant Present in the following documents:

• Main text
• bvac092.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: SLC22A1: 412-43T>G; rs4646272

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: rs4646272

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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Genome sequencing analysis of blood cells identifies germline haplotypes strongly associated with drug resistance in osteosarcoma patients.

Bmc Cancer

Bhuvaneshwar, Krithika K; Harris, Michael M; Gusev, Yuriy Y; Madhavan, Subha S; Iyer, Ramaswamy R; Vilboux, Thierry T; Deeken, John J; Yang, Elizabeth E; Shankar, Sadhna S

Publication Date: 2019-04-16

Variant appearance in text: rs4646272

PubMed Link: 30991985

Variant Present in the following documents:

• Main text
• 12885_2019_Article_5474.pdf

View BVdb publication page

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Metformin Pharmacogenetics: Effects of SLC22A1, SLC22A2, and SLC22A3 Polymorphisms on Glycemic Control and HbA1c Levels.

Journal Of Personalized Medicine

Al-Eitan, Laith N LN; Almomani, Basima A BA; Nassar, Ahmad M AM; Elsaqa, Barakat Z BZ; Saadeh, Nesreen A NA

Publication Date: 2019-03-25

Variant appearance in text: rs4646272

PubMed Link: 30934600

Variant Present in the following documents:

• Main text
• jpm-09-00017.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: SLC22A1: 412-43T>G; rs4646272

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: rs4646272

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Genetic polymorphisms of organic cation transporter 1 (OCT1) and responses to metformin therapy in individuals with type 2 diabetes: A systematic review.

Medicine

Mofo Mato, Edith Pascale EP; Guewo-Fokeng, Magellan M; Essop, M Faadiel MF; Owira, Peter Mark Oroma PMO

Publication Date: 2018-07

Variant appearance in text: rs4646272

PubMed Link: 29979413

Variant Present in the following documents:

• Main text
• medi-97-e11349.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: rs4646272

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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: rs4646272

PubMed Link: 23272163

Variant Present in the following documents:

• Main text
• pone.0051771.pdf

View BVdb publication page

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Genetic polymorphisms in organic cation transporter 1 (OCT1) in Chinese and Japanese populations exhibit altered function.

The Journal Of Pharmacology And Experimental Therapeutics

Chen, Ligong L; Takizawa, Miho M; Chen, Eugene E; Schlessinger, Avner A; Segenthelar, Julie J; Choi, Ji Ha JH; Sali, Andej A; Kubo, Michiaki M; Nakamura, Shinko S; Iwamoto, Yasuhiko Y; Iwasaki, Naoko N; Giacomini, Kathleen M KM

Publication Date: 2010-10

Variant appearance in text: rs4646272

PubMed Link: 20639304

Variant Present in the following documents:

• Main text

View BVdb publication page

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