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Page 1
Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.
Scherer N, Fässler D, Borisov O, Cheng Y, Schlosser P, Wuttke M, Haug S, Li Y, Telkämper F, Patil S, Meiselbach H, Wong C, Berger U, Sekula P, Hoppmann A, Schultheiss UT, Mozaffari S, Xi Y, Graham R, Schmidts M, Köttgen M, Oefner PJ, Knauf F, Eckardt KU, Grünert SC, Estrada K, Thiele I, Hertel J, Köttgen A. Scherer N, et al. Among authors: sekula p. Nat Genet. 2025 Jan;57(1):193-205. doi: 10.1038/s41588-024-01965-7. Epub 2025 Jan 2. Nat Genet. 2025. PMID: 39747595 Free PMC article.
Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.
Schlosser P, Li Y, Sekula P, Raffler J, Grundner-Culemann F, Pietzner M, Cheng Y, Wuttke M, Steinbrenner I, Schultheiss UT, Kotsis F, Kacprowski T, Forer L, Hausknecht B, Ekici AB, Nauck M, Völker U; GCKD Investigators; Walz G, Oefner PJ, Kronenberg F, Mohney RP, Köttgen M, Suhre K, Eckardt KU, Kastenmüller G, Köttgen A. Schlosser P, et al. Among authors: sekula p. Nat Genet. 2020 Feb;52(2):167-176. doi: 10.1038/s41588-019-0567-8. Epub 2020 Jan 20. Nat Genet. 2020. PMID: 31959995 Free PMC article.
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: sekula p. 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.
Author Correction: Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism.
Cheng Y, Schlosser P, Hertel J, Sekula P, Oefner PJ, Spiekerkoetter U, Mielke J, Freitag DF, Schmidts M; GCKD Investigators; Kronenberg F, Eckardt KU, Thiele I, Li Y, Köttgen A. Cheng Y, et al. Among authors: sekula p. Nat Commun. 2021 Oct 6;12(1):5938. doi: 10.1038/s41467-021-26242-7. Nat Commun. 2021. PMID: 34615878 Free PMC article. No abstract available.
Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.
Li Y, Sekula P, Wuttke M, Wahrheit J, Hausknecht B, Schultheiss UT, Gronwald W, Schlosser P, Tucci S, Ekici AB, Spiekerkoetter U, Kronenberg F, Eckardt KU, Oefner PJ, Köttgen A; GCKD Investigators. Li Y, et al. Among authors: sekula p. J Am Soc Nephrol. 2018 May;29(5):1513-1524. doi: 10.1681/ASN.2017101099. Epub 2018 Mar 15. J Am Soc Nephrol. 2018. PMID: 29545352 Free PMC article.
Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases.
Li Y, Cheng Y, Consolato F, Schiano G, Chong MR, Pietzner M, Nguyen NQH, Scherer N, Biggs ML, Kleber ME, Haug S, Göçmen B, Pigeyre M, Sekula P, Steinbrenner I, Schlosser P, Joseph CB, Brody JA, Grams ME, Hayward C, Schultheiss UT, Krämer BK, Kronenberg F, Peters A, Seissler J, Steubl D, Then C, Wuttke M, März W, Eckardt KU, Gieger C, Boerwinkle E, Psaty BM, Coresh J, Oefner PJ, Pare G, Langenberg C, Scherberich JE, Yu B, Akilesh S, Devuyst O, Rampoldi L, Köttgen A. Li Y, et al. Among authors: sekula p. JCI Insight. 2022 May 23;7(10):e157035. doi: 10.1172/jci.insight.157035. JCI Insight. 2022. PMID: 35446786 Free PMC article.
69 results