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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Among authors: hediger ma. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
Transporter-Mediated Drug Delivery.
Gyimesi G, Hediger MA. Gyimesi G, et al. Among authors: hediger ma. Molecules. 2023 Jan 24;28(3):1151. doi: 10.3390/molecules28031151. Molecules. 2023. PMID: 36770817 Free PMC article. Review.
Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.
Schlosser P, Scherer N, Grundner-Culemann F, Monteiro-Martins S, Haug S, Steinbrenner I, Uluvar B, Wuttke M, Cheng Y, Ekici AB, Gyimesi G, Karoly ED, Kotsis F, Mielke J, Gomez MF, Yu B, Grams ME, Coresh J, Boerwinkle E, Köttgen M, Kronenberg F, Meiselbach H, Mohney RP, Akilesh S; GCKD Investigators; Schmidts M, Hediger MA, Schultheiss UT, Eckardt KU, Oefner PJ, Sekula P, Li Y, Köttgen A. Schlosser P, et al. Among authors: hediger ma. Nat Genet. 2023 Jun;55(6):995-1008. doi: 10.1038/s41588-023-01409-8. Epub 2023 Jun 5. Nat Genet. 2023. PMID: 37277652 Free PMC article.
High-throughput identification of repurposable neuroactive drugs with potent anti-glioblastoma activity.
Lee S, Weiss T, Bühler M, Mena J, Lottenbach Z, Wegmann R, Sun M, Bihl M, Augustynek B, Baumann SP, Goetze S, van Drogen A, Pedrioli PGA, Penton D, Festl Y, Buck A, Kirschenbaum D, Zeitlberger AM, Neidert MC, Vasella F, Rushing EJ, Wollscheid B, Hediger MA, Weller M, Snijder B. Lee S, et al. Among authors: hediger ma. Nat Med. 2024 Nov;30(11):3196-3208. doi: 10.1038/s41591-024-03224-y. Epub 2024 Sep 20. Nat Med. 2024. PMID: 39304781 Free PMC article.
Extracellular sodium regulates fibroblast growth factor 23 (FGF23) formation.
Radvanyi Z, Yoo EJ, Kandasamy P, Salas-Bastos A, Monnerat S, Refardt J, Christ-Crain M, Hayashi H, Kondo Y, Jantsch J, Rubio-Aliaga I, Sommer L, Wagner CA, Hediger MA, Kwon HM, Loffing J, Pathare G. Radvanyi Z, et al. Among authors: hediger ma. J Biol Chem. 2024 Jan;300(1):105480. doi: 10.1016/j.jbc.2023.105480. Epub 2023 Nov 21. J Biol Chem. 2024. PMID: 37992803 Free PMC article.
246 results