Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: SLC47A1: 1438G>A; Val480Met; rs76645859

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology

Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,

Publication Date: 2022-09-17

Variant appearance in text: SLC47A1: 1438G>A; Val480Met; rs76645859

PubMed Link: 36124685

Variant Present in the following documents:

• noac220_suppl_supplementary_table_s3.xlsx, sheet 1

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Genetic Diversity in Drug Transporters: Impact in African Populations.

Clinical And Translational Science

Rajman, Iris I; Knapp, Laura L; Hanna, Imad I

Publication Date: 2020-09

Variant appearance in text: MATE1: V480M

PubMed Link: 32100958

Variant Present in the following documents:

• Main text

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Cisplatin and beyond: molecular mechanisms of action and drug resistance development in cancer chemotherapy.

Radiology And Oncology

Makovec, Tomaz T

Publication Date: 2019-03-28

Variant appearance in text: SLC47A1: Val480Met

PubMed Link: 30956230

Variant Present in the following documents:

• Main text
• raon-53-148.pdf

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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: SLC47A1: Val480Met; rs76645859

PubMed Link: 30515958

Variant Present in the following documents:

• Main text
• DMRR-35-na.pdf

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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: rs76645859

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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Pharmacogenomics of Drug Metabolizing Enzymes and Transporters: Relevance to Precision Medicine.

Genomics, Proteomics & Bioinformatics

Ahmed, Shabbir S; Zhou, Zhan Z; Zhou, Jie J; Chen, Shu-Qing SQ

Publication Date: 2016-10

Variant appearance in text: MATE1: V480M

PubMed Link: 27729266

Variant Present in the following documents:

• main.pdf

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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: SLC47A1: V480M

PubMed Link: 24624919

Variant Present in the following documents:

• Main text

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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: SLC47A1: V480M; rs76645859

PubMed Link: 21457222

Variant Present in the following documents:

• Main text

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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: MATE1: V480M

PubMed Link: 19940846

Variant Present in the following documents:

• Main text

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Genetic variants in multidrug and toxic compound extrusion-1, hMATE1, alter transport function.

The Pharmacogenomics Journal

Chen, Ying Y; Teranishi, Kristen K; Li, Shuanglian S; Yee, Sook Wah SW; Hesselson, Stephanie S; Stryke, Doug D; Johns, Susan J SJ; Ferrin, Thomas E TE; Kwok, Pui P; Giacomini, Kathleen M KM

Publication Date: 2009-04

Variant appearance in text: MATE1: V480M

PubMed Link: 19172157

Variant Present in the following documents:

• Main text

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Genetic variation in drug transporters in ethnic populations.

Clinical Pharmacology And Therapeutics

Cropp, C D CD; Yee, S W SW; Giacomini, K M KM

Publication Date: 2008-09

Variant appearance in text: MATE1: Val480Met

PubMed Link: 18528433

Variant Present in the following documents:

• Main text

View BVdb publication page

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