Publications:

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SLC22A1: P117L; rs200684404

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Effects of Genetic Polymorphism in CYP2D6, CYP2C19, and the Organic Cation Transporter OCT1 on Amitriptyline Pharmacokinetics in Healthy Volunteers and Depressive Disorder Patients.

Frontiers In Pharmacology

Matthaei, Johannes J; Brockmöller, Jürgen J; Steimer, Werner W; Pischa, Konstanze K; Leucht, Stefan S; Kullmann, Maria M; Jensen, Ole O; Ouethy, Typhaine T; Tzvetkov, Mladen Vassilev MV; Rafehi, Muhammad M

Publication Date: 2021

Variant appearance in text: SLC22A1: P117L; rs200684404

PubMed Link: 34093211

Variant Present in the following documents:

• Main text
• fphar-12-688950.pdf

View BVdb publication page

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Isobutyrylcarnitine as a Biomarker of OCT1 Activity and Interspecies Differences in its Membrane Transport.

Frontiers In Pharmacology

Jensen, Ole O; Matthaei, Johannes J; Klemp, Henry G HG; Meyer, Marleen J MJ; Brockmöller, Jürgen J; Tzvetkov, Mladen V MV

Publication Date: 2021

Variant appearance in text: SLC22A1: Pro117Leu; rs200684404

PubMed Link: 34040533

Variant Present in the following documents:

• Main text
• fphar-12-674559.pdf

View BVdb publication page

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The Impact of Genetic Polymorphisms in Organic Cation Transporters on Renal Drug Disposition.

International Journal Of Molecular Sciences

Zazuli, Zulfan Z; Duin, Naut J C B NJCB; Jansen, Katja K; Vijverberg, Susanne J H SJH; Maitland-van der Zee, Anke H AH; Masereeuw, Rosalinde R

Publication Date: 2020-09-10

Variant appearance in text: SLC22A1: P117L; rs200684404

PubMed Link: 32927790

Variant Present in the following documents:

• Main text
• ijms-21-06627.pdf

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Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.

Scientific Reports

Nanki, Yoshiko Y; Chiyoda, Tatsuyuki T; Hirasawa, Akira A; Ookubo, Aki A; Itoh, Manabu M; Ueno, Masaru M; Akahane, Tomoko T; Kameyama, Kaori K; Yamagami, Wataru W; Kataoka, Fumio F; Aoki, Daisuke D

Publication Date: 2020-07-28

Variant appearance in text: SLC22A1: 350C>T

PubMed Link: 32724113

Variant Present in the following documents:

• 41598_2020_69488_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Highly Variable Pharmacokinetics of Tyramine in Humans and Polymorphisms in OCT1, CYP2D6, and MAO-A.

Frontiers In Pharmacology

Rafehi, Muhammad M; Faltraco, Frank F; Matthaei, Johannes J; Prukop, Thomas T; Jensen, Ole O; Grytzmann, Aileen A; Blome, Felix G FG; Berger, Ralf Günter RG; Krings, Ulrich U; Vormfelde, Stefan V SV; Tzvetkov, Mladen V MV; Brockmöller, Jürgen J

Publication Date: 2019

Variant appearance in text: rs200684404

PubMed Link: 31736764

Variant Present in the following documents:

• Main text
• fphar-10-01297.pdf

View BVdb publication page

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Pharmacogenetics of type 2 diabetes mellitus, the route toward tailored medicine.

Diabetes/Metabolism Research And Reviews

Mannino, Gaia Chiara GC; Andreozzi, Francesco F; Sesti, Giorgio G

Publication Date: 2019-03

Variant appearance in text: SLC22A1: Pro117Leu; rs200684404

PubMed Link: 30515958

Variant Present in the following documents:

• Main text
• DMRR-35-na.pdf

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: SLC22A1: Pro117Leu; rs200684404

PubMed Link: 29979413

Variant Present in the following documents:

• Main text
• medi-97-e11349.pdf

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: rs200684404

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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Effects of genetic polymorphisms on the OCT1 and OCT2-mediated uptake of ranitidine.

Plos One

Meyer, Marleen Julia MJ; Seitz, Tina T; Brockmöller, Jürgen J; Tzvetkov, Mladen Vassilev MV

Publication Date: 2017

Variant appearance in text: SLC22A1: Pro117Leu

PubMed Link: 29236753

Variant Present in the following documents:

• Main text
• pone.0189521.pdf

View BVdb publication page

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: SLC22A1: P117L

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

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: rs200684404

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: SLC22A1: P117L

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Role of the plasma membrane transporter of organic cations OCT1 and its genetic variants in modern liver pharmacology.

Biomed Research International

Lozano, Elisa E; Herraez, Elisa E; Briz, Oscar O; Robledo, Virginia S VS; Hernandez-Iglesias, Jorge J; Gonzalez-Hernandez, Ana A; Marin, Jose J G JJ

Publication Date: 2013

Variant appearance in text: SLC22A1: 350C>T; P117L

PubMed Link: 23984399

Variant Present in the following documents:

• Main text
• BMRI2013-692071.pdf

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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: SLC22A1: 350C>T; P117L

PubMed Link: 20639304

Variant Present in the following documents:

• Main text

View BVdb publication page

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