Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.
Nature Genetics
Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A
Publication Date: 2023-06-05
Variant appearance in text: SLC22A1: 181C>T; Arg61Cys; rs12208357
Identification of Transporter Polymorphisms Influencing Metformin Pharmacokinetics in Healthy Volunteers.
Journal Of Personalized Medicine
Saiz-Rodríguez, Miriam M; Ochoa, Dolores D; Zubiaur, Pablo P; Navares-Gómez, Marcos M; Román, Manuel M; Camargo-Mamani, Paola P; Luquero-Bueno, Sergio S; Villapalos-García, Gonzalo G; Alcaraz, Raquel R; Mejía-Abril, Gina G; Santos-Mazo, Estefanía E; Abad-Santos, Francisco F
Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline.
Pharmaceutics
Zubiaur, Pablo P; Matas, Miriam M; Martín-Vílchez, Samuel S; Soria-Chacartegui, Paula P; Villapalos-García, Gonzalo G; Figueiredo-Tor, Laura L; Calleja, Sofía S; Navares-Gómez, Marcos M; de Miguel, Alejandro A; Novalbos, Jesús J; Mejía-Abril, Gina G; Luquero-Bueno, Sergio S; Román, Manuel M; Ochoa, Dolores D; Abad-Santos, Francisco F
CYP2C8*3 and *4 define CYP2C8 phenotype: An approach with the substrate cinitapride.
Clinical And Translational Science
Campodónico, Diana María DM; Zubiaur, Pablo P; Soria-Chacartegui, Paula P; Casajús, Ana A; Villapalos-García, Gonzalo G; Navares-Gómez, Marcos M; Gómez-Fernández, Antía A; Parra-Garcés, Raúl R; Mejía-Abril, Gina G; Román, Manuel M; Martín-Vílchez, Samuel S; Ochoa, Dolores D; Abad-Santos, Francisco F
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: SLC22A1: 181C>T; Arg61Cys; rs12208357
Effects of Cytochrome P450 and Transporter Polymorphisms on the Bioavailability and Safety of Dutasteride and Tamsulosin.
Frontiers In Pharmacology
Villapalos-García, Gonzalo G; Zubiaur, Pablo P; Navares-Gómez, Marcos M; Saiz-Rodríguez, Miriam M; Mejía-Abril, Gina G; Martín-Vílchez, Samuel S; Román, Manuel M; Ochoa, Dolores D; Abad-Santos, Francisco F
Variants in COMT, CYP3A5, CYP2B6, and ABCG2 Alter Quetiapine Pharmacokinetics.
Pharmaceutics
Zubiaur, Pablo P; Fernández-Campos, Paula P; Navares-Gómez, Marcos M; Soria-Chacartegui, Paula P; Villapalos-García, Gonzalo G; Román, Manuel M; Mejía-Abril, Gina G; Ochoa, Dolores D; Abad-Santos, Francisco F
PriME-PGx: La Princesa University Hospital Multidisciplinary Initiative for the Implementation of Pharmacogenetics.
Journal Of Clinical Medicine
Zubiaur, Pablo P; Mejía-Abril, Gina G; Navares-Gómez, Marcos M; Villapalos-García, Gonzalo G; Soria-Chacartegui, Paula P; Saiz-Rodríguez, Miriam M; Ochoa, Dolores D; Abad-Santos, Francisco F
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: R61C; rs12208357
Effects of a Common Eight Base Pairs Duplication at the Exon 7-Intron 7 Junction on Splicing, Expression, and Function of OCT1.
Frontiers In Pharmacology
Römer, Sarah S; Meyer, Marleen J MJ; Klein, Kathrin K; Schneider, Lennart V LV; Matthaei, Johannes J; Tzvetkova, Ana A; Łapczuk-Romańska, Joanna J; Gaedcke, Jochen J; Droździk, Marek M; Brockmöller, Jürgen J; Nies, Anne T AT; Tzvetkov, Mladen V MV
Dexketoprofen Pharmacokinetics is not Significantly Altered by Genetic Polymorphism.
Frontiers In Pharmacology
Mejía-Abril, Gina G; Zubiaur, Pablo P; Navares-Gómez, Marcos M; Villapalos-García, Gonzalo G; Román, Manuel M; Ochoa, Dolores D; Abad-Santos, Francisco F
SLCO1B1 Phenotype and CYP3A5 Polymorphism Significantly Affect Atorvastatin Bioavailability.
Journal Of Personalized Medicine
Zubiaur, Pablo P; Benedicto, Maria Dolores MD; Villapalos-García, Gonzalo G; Navares-Gómez, Marcos M; Mejía-Abril, Gina G; Román, Manuel M; Martín-Vílchez, Samuel S; Ochoa, Dolores D; Abad-Santos, Francisco F
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: SLC22A1: 181C>T; R61C; rs12208357
Diffusion Mechanism Modeling of Metformin in Human Organic Cationic Amino Acid Transporter one and Functional Impact of S189L, R206C, and G401S Mutation.
Frontiers In Pharmacology
Cano, Leydy L; Soto-Ospina, Alejandro A; Araque, Pedronel P; Caro-Gomez, Maria Antonieta MA; Parra-Marin, Maria Victoria MV; Bedoya, Gabriel G; Duque, Constanza C
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: SLC22A1: 181C>T; R61C; rs12208357
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Publication Date: 2020-12-18
Variant appearance in text: SLC22A1: R61C; rs12208357