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Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study.
Naamneh Elzenaty R, Martinez de Lapiscina I, Kouri C, Sauter KS, Sommer G, Castaño L, Flück CE; SF1next study group. Naamneh Elzenaty R, et al. Among authors: sauter ks. J Clin Endocrinol Metab. 2024 Apr 16:dgae251. doi: 10.1210/clinem/dgae251. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38623954 Free article.
Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency.
Mathis D, Koch J, Koller S, Sauter K, Flück C, Uldry AC, Forny P, Froese DS, Laemmle A. Mathis D, et al. Among authors: sauter k. Mol Genet Metab Rep. 2024 Feb 23;39:101066. doi: 10.1016/j.ymgmr.2024.101066. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38425868 Free PMC article.
Optimized design and in vivo application of optogenetically functionalized Drosophila dopamine receptors.
Zhou F, Tichy AM, Imambocus BN, Sakharwade S, Rodriguez Jimenez FJ, González Martínez M, Jahan I, Habib M, Wilhelmy N, Burre V, Lömker T, Sauter K, Helfrich-Förster C, Pielage J, Grunwald Kadow IC, Janovjak H, Soba P. Zhou F, et al. Among authors: sauter k. Nat Commun. 2023 Dec 19;14(1):8434. doi: 10.1038/s41467-023-43970-0. Nat Commun. 2023. PMID: 38114457 Free PMC article.
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
Martinez de Lapiscina I, Kouri C, Aurrekoetxea J, Sanchez M, Naamneh Elzenaty R, Sauter KS, Camats N, Grau G, Rica I, Rodriguez A, Vela A, Cortazar A, Alonso-Cerezo MC, Bahillo P, Bertholt L, Esteva I, Castaño L, Flück CE. Martinez de Lapiscina I, et al. Among authors: sauter ks. PLoS One. 2023 Jul 11;18(7):e0287515. doi: 10.1371/journal.pone.0287515. eCollection 2023. PLoS One. 2023. PMID: 37432935 Free PMC article.
Triglyceride Lowering with Pemafibrate to Reduce Cardiovascular Risk.
Das Pradhan A, Glynn RJ, Fruchart JC, MacFadyen JG, Zaharris ES, Everett BM, Campbell SE, Oshima R, Amarenco P, Blom DJ, Brinton EA, Eckel RH, Elam MB, Felicio JS, Ginsberg HN, Goudev A, Ishibashi S, Joseph J, Kodama T, Koenig W, Leiter LA, Lorenzatti AJ, Mankovsky B, Marx N, Nordestgaard BG, Páll D, Ray KK, Santos RD, Soran H, Susekov A, Tendera M, Yokote K, Paynter NP, Buring JE, Libby P, Ridker PM; PROMINENT Investigators. Das Pradhan A, et al. N Engl J Med. 2022 Nov 24;387(21):1923-1934. doi: 10.1056/NEJMoa2210645. Epub 2022 Nov 5. N Engl J Med. 2022. PMID: 36342113 Clinical Trial.
136 results