Publications:

---

A Review of the Impact of Pharmacogenetics and Metabolomics on the Efficacy of Metformin in Type 2 Diabetes.

International Journal Of Medical Sciences

Damanhouri, Zoheir A ZA; Alkreathy, Huda M HM; Alharbi, Fawaz A FA; Abualhamail, Haneen H; Ahmad, Muhammad S MS

Publication Date: 2023

Variant appearance in text: rs2252281

PubMed Link: 36619226

Variant Present in the following documents:

• ijmsv20p0142.pdf

View BVdb publication page

---

Research Progress of Population Pharmacokinetic of Metformin.

Biomed Research International

Wang, Xiaohu X; Tang, Jin J; Shen, Chaozhuang C; Wang, Xingwen X; Hu, Hua H; Xie, Haitang H

Publication Date: 2022

Variant appearance in text: rs2252281

PubMed Link: 36578804

Variant Present in the following documents:

• BMRI2022-4071111.pdf

View BVdb publication page

---

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: SLC47A1: -66T>C; rs2252281

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Association of SLC22A1, SLC22A2, SLC47A1, and SLC47A2 Polymorphisms with Metformin Efficacy in Type 2 Diabetic Patients.

Biomedicines

Chen, Peixian P; Cao, Yumin Y; Chen, Shenren S; Liu, Zhike Z; Chen, Shiyi S; Guo, Yali Y

Publication Date: 2022-10-12

Variant appearance in text: rs2252281

PubMed Link: 36289808

Variant Present in the following documents:

• Main text
• biomedicines-10-02546.pdf

View BVdb publication page

---

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2252281

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

Determinants in Tailoring Antidiabetic Therapies: A Personalized Approach.

Global Medical Genetics

Rizvi, Aliya A AA; Abbas, Mohammad M; Verma, Sushma S; Verma, Shrikant S; Khan, Almas A; Raza, Syed T ST; Mahdi, Farzana F

Publication Date: 2022-06

Variant appearance in text: rs2252281

PubMed Link: 35707783

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genomic editing of metformin efficacy-associated genetic variants in SLC47A1 does not alter SLC47A1 expression.

Human Molecular Genetics

Kalamajski, Sebastian S; Huang, Mi M; Dalla-Riva, Jonathan J; Keller, Maria M; Dawed, Adem Y AY; Hansson, Ola O; Pearson, Ewan R ER; , ; Mulder, Hindrik H; Franks, Paul W PW

Publication Date: 2022-02-21

Variant appearance in text: rs2252281

PubMed Link: 34505146

Variant Present in the following documents:

• Main text
• ddab266.pdf

View BVdb publication page

---

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: SLC47A1: -66T>C; rs2252281

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: rs2252281

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Oncology and Pharmacogenomics Insights in Polycystic Ovary Syndrome: An Integrative Analysis.

Frontiers In Endocrinology

Yumiceba, Verónica V; López-Cortés, Andrés A; Pérez-Villa, Andy A; Yumiseba, Iván I; Guerrero, Santiago S; García-Cárdenas, Jennyfer M JM; Armendáriz-Castillo, Isaac I; Guevara-Ramírez, Patricia P; Leone, Paola E PE; Zambrano, Ana Karina AK; Paz-Y-Miño, César C

Publication Date: 2020

Variant appearance in text: rs2252281

PubMed Link: 33329391

Variant Present in the following documents:

• Main text
• fendo-11-585130.pdf

View BVdb publication page

---

Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: SLC47A1: -66T>C; rs2252281

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 23
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 17
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Population pharmacokinetics and dosing optimization of metformin in Chinese patients with type 2 diabetes mellitus.

Medicine

Li, Ling L; Guan, Ziwan Z; Li, Rui R; Zhao, Wei W; Hao, Guoxiang G; Yan, Yan Y; Xu, Yuedong Y; Liao, Lin L; Wang, Huanjun H; Gao, Li L; Wu, Kunrong K; Gao, Yuxia Y; Li, Yan Y

Publication Date: 2020-11-13

Variant appearance in text: rs2252281

PubMed Link: 33181704

Variant Present in the following documents:

• Main text
• medi-99-e23212.pdf

View BVdb publication page

---

Pharmacogenetics of Type 2 Diabetes-Progress and Prospects.

International Journal Of Molecular Sciences

Nasykhova, Yulia A YA; Tonyan, Ziravard N ZN; Mikhailova, Anastasiia A AA; Danilova, Maria M MM; Glotov, Andrey S AS

Publication Date: 2020-09-18

Variant appearance in text: rs2252281

PubMed Link: 32961860

Variant Present in the following documents:

• Main text
• ijms-21-06842.pdf

View BVdb publication page

---

Identification of Appropriate Endogenous Biomarker for Risk Assessment of Multidrug and Toxin Extrusion Protein-Mediated Drug-Drug Interactions in Healthy Volunteers.

Clinical Pharmacology And Therapeutics

Miyake, Takeshi T; Kimoto, Emi E; Luo, Lina L; Mathialagan, Sumathy S; Horlbogen, Lauren M LM; Ramanathan, Ragu R; Wood, Linda S LS; Johnson, Jillian G JG; Le, Vu H VH; Vourvahis, Manoli M; Rodrigues, A David AD; Muto, Chieko C; Furihata, Kenichi K; Sugiyama, Yuichi Y; Kusuhara, Hiroyuki H

Publication Date: 2021-02

Variant appearance in text: rs2252281

PubMed Link: 32866300

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A review of clinical pharmacogenetics Studies in African populations.

Personalized Medicine

Radouani, Fouzia F; Zass, Lyndon L; Hamdi, Yosr Y; Rocha, Jorge da JD; Sallam, Reem R; Abdelhak, Sonia S; Ahmed, Samah S; Azzouzi, Maryame M; Benamri, Ichrak I; Benkahla, Alia A; Bouhaouala-Zahar, Balkiss B; Chaouch, Melek M; Jmel, Haifa H; Kefi, Rym R; Ksouri, Ayoub A; Kumuthini, Judit J; Masilela, Phumlani P; Masimirembwa, Collen C; Othman, Houcemeddine H; Panji, Sumir S; Romdhane, Lilia L; Samtal, Chaimae C; Sibira, Rania R; Ghedira, Kais K; Fadlelmola, Faisal F; Kassim, Samar Kamal SK; Mulder, Nicola N

Publication Date: 2020-03

Variant appearance in text: rs2252281

PubMed Link: 32125935

Variant Present in the following documents:

• Main text
• nihms-1694746.pdf
• NIHMS1694746-supplement-Supplementary_file.xlsx, sheet 3

View BVdb publication page

---

The genetic landscape of the human solute carrier (SLC) transporter superfamily.

Human Genetics

Schaller, Lena L; Lauschke, Volker M VM

Publication Date: 2019-12

Variant appearance in text: rs2252281

PubMed Link: 31679053

Variant Present in the following documents:

• Main text
• 439_2019_Article_2081.pdf

View BVdb publication page

---

Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

Nature Communications

Hellwege, Jacklyn N JN; Velez Edwards, Digna R DR; Giri, Ayush A; Qiu, Chengxiang C; Park, Jihwan J; Torstenson, Eric S ES; Keaton, Jacob M JM; Wilson, O D OD; Robinson-Cohen, Cassianne C; Chung, Cecilia P CP; Roumie, Christianne L CL; Klarin, Derek D; Damrauer, Scott M SM; DuVall, Scott L SL; Siew, Edward E; Akwo, Elvis A EA; Wuttke, Matthias M; Gorski, Mathias M; Li, Man M; Li, Yong Y; Gaziano, J Michael JM; Wilson, Peter W F PWF; Tsao, Philip S PS; O'Donnell, Christopher J CJ; Kovesdy, Csaba P CP; Pattaro, Cristian C; Köttgen, Anna A; Susztak, Katalin K; Edwards, Todd L TL; Hung, Adriana M AM

Publication Date: 2019-08-26

Variant appearance in text: rs2252281

PubMed Link: 31451708

Variant Present in the following documents:

• 41467_2019_11704_MOESM1_ESM.pdf

View BVdb publication page

---

Association between Polymorphisms of OCT1 and Metabolic Response to Metformin in Women with Polycystic Ovary Syndrome.

International Journal Of Molecular Sciences

Chang, Hui Hua HH; Hsueh, Yuan-Shuo YS; Cheng, Yung Wen YW; Ou, Huang-Tz HT; Wu, Meng-Hsing MH

Publication Date: 2019-04-07

Variant appearance in text: rs2252281

PubMed Link: 30959948

Variant Present in the following documents:

• Main text
• ijms-20-01720.pdf

View BVdb publication page

---

OCT3 promoter haplotype is associated with metformin pharmacokinetics in Koreans.

Scientific Reports

Kwon, Eun Young EY; Chung, Jae-Yong JY; Park, Hyo Jin HJ; Kim, Bo Min BM; Kim, Minsuk M; Choi, Ji Ha JH

Publication Date: 2018-11-16

Variant appearance in text: SLC47A1: -66T>C; rs2252281

PubMed Link: 30446679

Variant Present in the following documents:

• Main text
• 41598_2018_Article_35322.pdf
• 41598_2018_35322_MOESM1_ESM.pdf

View BVdb publication page

---

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: SLC47A1: -66T>C; rs2252281

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

---

Influence of Transporter Polymorphisms on Drug Disposition and Response: A Perspective From the International Transporter Consortium.

Clinical Pharmacology And Therapeutics

Yee, Sook Wah SW; Brackman, Deanna J DJ; Ennis, Elizabeth A EA; Sugiyama, Yuichi Y; Kamdem, Landry K LK; Blanchard, Rebecca R; Galetin, Aleksandra A; Zhang, Lei L; Giacomini, Kathleen M KM

Publication Date: 2018-11

Variant appearance in text: rs2252281

PubMed Link: 29679469

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort.

British Journal Of Clinical Pharmacology

Santoro, Ana Beatriz AB; Botton, Mariana Rodrigues MR; Struchiner, Claudio José CJ; Suarez-Kurtz, Guilherme G

Publication Date: 2018-05

Variant appearance in text: rs2252281

PubMed Link: 29352482

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Potential role of polymorphisms in the transporter genes ENT1 and MATE1/OCT2 in predicting TAS-102 efficacy and toxicity in patients with refractory metastatic colorectal cancer.

European Journal Of Cancer (Oxford, England : 1990)

Suenaga, Mitsukuni M; Schirripa, Marta M; Cao, Shu S; Zhang, Wu W; Yang, Dongyun D; Dadduzio, Vincenzo V; Salvatore, Lisa L; Borelli, Beatrice B; Pietrantonio, Filippo F; Ning, Yan Y; Okazaki, Satoshi S; Berger, Martin D MD; Miyamoto, Yuji Y; Gopez, Roel R; Barzi, Afsaneh A; Yamaguchi, Toshiharu T; Loupakis, Fotios F; Lenz, Heinz-Josef HJ

Publication Date: 2017-11

Variant appearance in text: rs2252281

PubMed Link: 28992563

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs2252281

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

---

Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta-Analysis.

Clinical Pharmacology And Therapeutics

Dujic, T T; Zhou, K K; Yee, S W SW; van Leeuwen, N N; de Keyser, C E CE; Javorský, M M; Goswami, S S; Zaharenko, L L; Hougaard Christensen, M M MM; Out, M M; Tavendale, R R; Kubo, M M; Hedderson, M M MM; van der Heijden, A A AA; Klimčáková, L L; Pirags, V V; Kooy, A A; Brøsen, K K; Klovins, J J; Semiz, S S; Tkáč, I I; Stricker, B H BH; Palmer, Cna C; 't Hart, L M LM; Giacomini, K M KM; Pearson, E R ER

Publication Date: 2017-06

Variant appearance in text: rs2252281

PubMed Link: 27859023

Variant Present in the following documents:

• Main text
• CPT-101-763.pdf
• CPT-101-763-s001.pdf

View BVdb publication page

---

Pharmacogenetics: Implications for Modern Type 2 Diabetes Therapy.

The Review Of Diabetic Studies : Rds

Staiger, Harald H; Schaeffeler, Elke E; Schwab, Matthias M; Häring, Hans-Ulrich HU

Publication Date: 2015

Variant appearance in text: rs2252281

PubMed Link: 27111121

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Pharmacogenetics in type 2 diabetes: influence on response to oral hypoglycemic agents.

Pharmacogenomics And Personalized Medicine

Dawed, Adem Yesuf AY; Zhou, Kaixin K; Pearson, Ewan Robert ER

Publication Date: 2016

Variant appearance in text: rs2252281

PubMed Link: 27103840

Variant Present in the following documents:

• Main text
• pgpm-9-017.pdf

View BVdb publication page

---

The Effect of Famotidine, a MATE1-Selective Inhibitor, on the Pharmacokinetics and Pharmacodynamics of Metformin.

Clinical Pharmacokinetics

Hibma, Jennifer E JE; Zur, Arik A AA; Castro, Richard A RA; Wittwer, Matthias B MB; Keizer, Ron J RJ; Yee, Sook Wah SW; Goswami, Srijib S; Stocker, Sophie L SL; Zhang, Xuexiang X; Huang, Yong Y; Brett, Claire M CM; Savic, Radojka M RM; Giacomini, Kathleen M KM

Publication Date: 2016-06

Variant appearance in text: rs2252281

PubMed Link: 26597253

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Metformin pharmacogenomics: current status and future directions.

Diabetes

Pawlyk, Aaron C AC; Giacomini, Kathleen M KM; McKeon, Catherine C; Shuldiner, Alan R AR; Florez, Jose C JC

Publication Date: 2014-08

Variant appearance in text: rs2252281

PubMed Link: 25060887

Variant Present in the following documents:

• Main text
• 2590.pdf

View BVdb publication page

---

An update on the pharmacogenomics of metformin: progress, problems and potential.

Pharmacogenomics

Todd, Jennifer N JN; Florez, Jose C JC

Publication Date: 2014-03

Variant appearance in text: rs2252281

PubMed Link: 24624919

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The effect of novel promoter variants in MATE1 and MATE2 on the pharmacokinetics and pharmacodynamics of metformin.

Clinical Pharmacology And Therapeutics

Stocker, S L SL; Morrissey, K M KM; Yee, S W SW; Castro, R A RA; Xu, L L; Dahlin, A A; Ramirez, A H AH; Roden, D M DM; Wilke, R A RA; McCarty, C A CA; Davis, R L RL; Brett, C M CM; Giacomini, K M KM

Publication Date: 2013-02

Variant appearance in text: rs2252281

PubMed Link: 23267855

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Importance of the multidrug and toxin extrusion MATE/SLC47A family to pharmacokinetics, pharmacodynamics/toxicodynamics and pharmacogenomics.

British Journal Of Pharmacology

Yonezawa, Atsushi A; Inui, Ken-ichi K

Publication Date: 2011-12

Variant appearance in text: rs2252281

PubMed Link: 21457222

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.

Clinical Pharmacology And Therapeutics

Kroetz, D L DL; Yee, S W SW; Giacomini, K M KM

Publication Date: 2010-01

Variant appearance in text: rs2252281

PubMed Link: 19940846

Variant Present in the following documents:

• Main text

View BVdb publication page

---