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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.
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.
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.
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.
Discovery of novel gating checkpoints in the Orai1 calcium channel by systematic analysis of constitutively active mutants of its paralogs and orthologs.
Augustynek B, Gyimesi G, Dernič J, Sallinger M, Albano G, Klesse GJ, Kandasamy P, Grabmayr H, Frischauf I, Fuster DG, Peinelt C, Hediger MA, Bhardwaj R. Augustynek B, et al. Among authors: hediger ma. Cell Calcium. 2022 Jul;105:102616. doi: 10.1016/j.ceca.2022.102616. Epub 2022 Jun 22. Cell Calcium. 2022. PMID: 35792401 Free article.
244 results