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The full spectrum of OCT1 (SLC22A1) mutations bridges transporter biophysics to drug pharmacogenomics.
Yee SW, Macdonald C, Mitrovic D, Zhou X, Koleske ML, Yang J, Silva DB, Grimes PR, Trinidad D, More SS, Kachuri L, Witte JS, Delemotte L, Giacomini KM, Coyote-Maestas W. Yee SW, et al. Among authors: giacomini km. bioRxiv [Preprint]. 2023 Jun 7:2023.06.06.543963. doi: 10.1101/2023.06.06.543963. bioRxiv. 2023. Update in: Mol Cell. 2024 May 16;84(10):1932-1947.e10. doi: 10.1016/j.molcel.2024.04.008 PMID: 37333090 Free PMC article. Updated. Preprint.
Illuminating the Function of the Orphan Transporter, SLC22A10 in Humans and Other Primates.
Yee SW, Ferrández-Peral L, Alentorn P, Fontsere C, Ceylan M, Koleske ML, Handin N, Artegoitia VM, Lara G, Chien HC, Zhou X, Dainat J, Zalevsky A, Sali A, Brand CM, Capra JA, Artursson P, Newman JW, Marques-Bonet T, Giacomini KM. Yee SW, et al. Among authors: giacomini km. bioRxiv [Preprint]. 2023 Aug 12:2023.08.08.552553. doi: 10.1101/2023.08.08.552553. bioRxiv. 2023. Update in: Nat Commun. 2024 May 23;15(1):4380. doi: 10.1038/s41467-024-48569-7 PMID: 37609337 Free PMC article. Updated. Preprint.
The full spectrum of SLC22 OCT1 mutations illuminates the bridge between drug transporter biophysics and pharmacogenomics.
Yee SW, Macdonald CB, Mitrovic D, Zhou X, Koleske ML, Yang J, Buitrago Silva D, Rockefeller Grimes P, Trinidad DD, More SS, Kachuri L, Witte JS, Delemotte L, Giacomini KM, Coyote-Maestas W. Yee SW, et al. Among authors: giacomini km. Mol Cell. 2024 May 16;84(10):1932-1947.e10. doi: 10.1016/j.molcel.2024.04.008. Epub 2024 May 3. Mol Cell. 2024. PMID: 38703769
Effect of Antioxidants in Medicinal Products on Intestinal Drug Transporters.
Kulkarni CP, Yang J, Koleske ML, Lara G, Alam K, Raw A, Rege B, Zhao L, Lu D, Zhang L, Yu LX, Lionberger RA, Giacomini KM, Kroetz DL, Yee SW. Kulkarni CP, et al. Among authors: giacomini km. Pharmaceutics. 2024 May 10;16(5):647. doi: 10.3390/pharmaceutics16050647. Pharmaceutics. 2024. PMID: 38794309 Free PMC article.
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB, Trinidad M, Ljungdahl A, Revalde JL, Berguig GY, Wallace W, Patrick CS, Bomba L, Arkin M, Dong S, Estrada K, Hutchinson K, LeBowitz JH, Schlessinger A, Johannesen KM, Møller RS, Giacomini KM, Froelich S, Sanders SJ, Wuster A. Silva DB, et al. Among authors: giacomini km. Am J Hum Genet. 2024 Jun 6;111(6):1222-1238. doi: 10.1016/j.ajhg.2024.04.021. Epub 2024 May 22. Am J Hum Genet. 2024. PMID: 38781976 Free PMC article.
Initial Insights into the Genetic Variation Associated with Metformin Treatment Failure in Youth with Type 2 Diabetes.
Srinivasan S, Chen L, Udler M, Todd J, Kelsey MM, Haymond MW, Arslanian S, Zeitler P, Gubitosi-Klug R, Nadeau KJ, Kutney K, White NH, Li JH, Perry JA, Kaur V, Brenner L, Mercader JM, Dawed A, Pearson ER, Yee SW, Giacomini KM, Pollin T, Florez JC. Srinivasan S, et al. Among authors: giacomini km. Pediatr Diabetes. 2023;2023:8883199. doi: 10.1155/2023/8883199. Epub 2023 May 24. Pediatr Diabetes. 2023. PMID: 38590442 Free PMC article.
Publisher Correction: A genome-wide association analysis reveals new pathogenic pathways in gout.
Major TJ, Takei R, Matsuo H, Leask MP, Sumpter NA, Topless RK, Shirai Y, Wang W, Cadzow MJ, Phipps-Green AJ, Li Z, Ji A, Merriman ME, Morice E, Kelley EE, Wei WH, McCormick SPA, Bixley MJ, Reynolds RJ, Saag KG, Fadason T, Golovina E, O'Sullivan JM, Stamp LK, Dalbeth N, Abhishek A, Doherty M, Roddy E, Jacobsson LTH, Kapetanovic MC, Melander O, Andrés M, Pérez-Ruiz F, Torres RJ, Radstake T, Jansen TL, Janssen M, Joosten LAB, Liu R, Gaal OI, Crişan TO, Rednic S, Kurreeman F, Huizinga TWJ, Toes R, Lioté F, Richette P, Bardin T, Ea HK, Pascart T, McCarthy GM, Helbert L, Stibůrková B, Tausche AK, Uhlig T, Vitart V, Boutin TS, Hayward C, Riches PL, Ralston SH, Campbell A, MacDonald TM; FAST Study Group; Nakayama A, Takada T, Nakatochi M, Shimizu S, Kawamura Y, Toyoda Y, Nakaoka H, Yamamoto K, Matsuo K, Shinomiya N, Ichida K; Japan Gout Genomics Consortium; Lee C; Asia Pacific Gout Consortium; Bradbury LA, Brown MA, Robinson PC, Buchanan RRC, Hill CL, Lester S, Smith MD, Rischmueller M, Choi HK, Stahl EA, Miner JN, Solomon DH, Cui J, Giacomini KM, Brackman DJ, Jorgenson EM; GlobalGout Genetics Consortium; Liu H, Susztak K; 23andMe Research Team; Shringarpure S, So A, Okada Y, Li C,… See abstract for full author list ➔ Major TJ, et al. Among authors: giacomini km. Nat Genet. 2024 Nov;56(11):2577. doi: 10.1038/s41588-024-02017-w. Nat Genet. 2024. PMID: 39501129 No abstract available.
354 results