Publications:

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Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Frontiers In Pharmacology

Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Morel, Adrien A; Niño-Orrego, María José MJ; Ruiz-Torres, Daniel-Armando DA; Contreras Bravo, Nora Constanza NC; Restrepo, Carlos Martin CM; Ortega-Recalde, Oscar O; Fonseca-Mendoza, Dora Janeth DJ

Publication Date: 2022

Variant appearance in text: SLCO1B1: 481+1G>T; rs77271279

PubMed Link: 35846994

Variant Present in the following documents:

• Table2.xlsx, sheet 1

View BVdb publication page

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Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Pharmaceutics

Dagli-Hernandez, Carolina C; Borges, Jéssica Bassani JB; Marçal, Elisangela da Silva Rodrigues EDSR; de Freitas, Renata Caroline Costa RCC; Mori, Augusto Akira AA; Gonçalves, Rodrigo Marques RM; Faludi, Andre Arpad AA; de Oliveira, Victor Fernandes VF; Ferreira, Glaucio Monteiro GM; Bastos, Gisele Medeiros GM; Zhou, Yitian Y; Lauschke, Volker M VM; Cerda, Alvaro A; Hirata, Mario Hiroyuki MH; Hirata, Rosario Dominguez Crespo RDC

Publication Date: 2022-04-27

Variant appearance in text: rs77271279

PubMed Link: 35631530

Variant Present in the following documents:

• pharmaceutics-14-00944.pdf

View BVdb publication page

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New and Emerging Research on Solute Carrier and ATP Binding Cassette Transporters in Drug Discovery and Development: Outlook From the International Transporter Consortium.

Clinical Pharmacology And Therapeutics

Giacomini, Kathleen M KM; Yee, Sook W SW; Koleske, Megan L ML; Zou, Ling L; Matsson, Pär P; Chen, Eugene C EC; Kroetz, Deanna L DL; Miller, Miles A MA; Gozalpour, Elnaz E; Chu, Xiaoyan X

Publication Date: 2022-09

Variant appearance in text: SLCO1B1: 481+1G>T; rs77271279

PubMed Link: 35488474

Variant Present in the following documents:

• Main text
• CPT-112-540.pdf

View BVdb publication page

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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: SLCO1B1: 481+1G>T; rs77271279

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology

da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S

Publication Date: 2021

Variant appearance in text: rs77271279

PubMed Link: 34721006

Variant Present in the following documents:

• datasheet1.pdf

View BVdb publication page

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Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.

Antimicrobial Agents And Chemotherapy

Pernaute-Lau, Leyre L; Adegnika, Ayola Akim AA; Zhou, Yitian Y; Zinsou, Jeannot F JF; Gil, Jose Pedro JP; Krishna, Sanjeev S; Kremsner, Peter G PG; Lauschke, Volker M VM; Velavan, Thirumalaisamy P TP

Publication Date: 2021-06-17

Variant appearance in text: rs77271279

PubMed Link: 33875422

Variant Present in the following documents:

• Main text

View BVdb publication page

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Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences.

Clinical Pharmacology And Therapeutics

Lee, Seung-Been SB; Wheeler, Marsha M MM; Thummel, Kenneth E KE; Nickerson, Deborah A DA

Publication Date: 2019-12

Variant appearance in text: rs77271279

PubMed Link: 31206625

Variant Present in the following documents:

• Main text
• CPT-106-1328.pdf

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: SLCO1B1: 481+1G>T; rs77271279

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

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: rs77271279

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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Loss-of-function variants influence the human serum metabolome.

Science Advances

Yu, Bing B; Li, Alexander H AH; Metcalf, Ginger A GA; Muzny, Donna M DM; Morrison, Alanna C AC; White, Simon S; Mosley, Thomas H TH; Gibbs, Richard A RA; Boerwinkle, Eric E

Publication Date: 2016-08

Variant appearance in text: SLCO1B1: 481+1G>T

PubMed Link: 27602404

Variant Present in the following documents:

• Main text
• 1600800.pdf

View BVdb publication page

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Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.

The Journal Of Clinical Investigation

van de Steeg, Evita E; Stránecký, Viktor V; Hartmannová, Hana H; Nosková, Lenka L; Hřebíček, Martin M; Wagenaar, Els E; van Esch, Anita A; de Waart, Dirk R DR; Oude Elferink, Ronald P J RP; Kenworthy, Kathryn E KE; Sticová, Eva E; al-Edreesi, Mohammad M; Knisely, A S AS; Kmoch, Stanislav S; Jirsa, Milan M; Schinkel, Alfred H AH

Publication Date: 2012-02

Variant appearance in text:

PubMed Link: 22232210

Variant Present in the following documents:

• Main text

View BVdb publication page

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