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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.
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.
FDXR variants cause adrenal insufficiency and atypical sexual development.
Pignatti E, Slone J, Gómez Cano MÁ, Campbell TM, Vu J, Sauter KS, Pandey AV, Martínez-Azorín F, Alonso-Riaño M, Neilson DE, Longo N, du Toit T, Voegel CD, Huang T, Flück CE. Pignatti E, et al. Among authors: sauter ks. JCI Insight. 2024 Jun 17;9(14):e179071. doi: 10.1172/jci.insight.179071. JCI Insight. 2024. PMID: 38885337 Free PMC article.
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.
Naamneh Elzenaty R, Kouri C, Martinez de Lapiscina I, Sauter KS, Moreno F, Camats-Tarruella N, Flück CE. Naamneh Elzenaty R, et al. Among authors: sauter ks. Int J Mol Sci. 2024 Sep 20;25(18):10109. doi: 10.3390/ijms251810109. Int J Mol Sci. 2024. PMID: 39337600 Free PMC article.
Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1.
Martínez de LaPiscina I, Mahmoud RA, Sauter KS, Esteva I, Alonso M, Costa I, Rial-Rodriguez JM, Rodríguez-Estévez A, Vela A, Castano L, Flück CE. Martínez de LaPiscina I, et al. Among authors: sauter ks. Int J Mol Sci. 2020 Nov 13;21(22):8554. doi: 10.3390/ijms21228554. Int J Mol Sci. 2020. PMID: 33202802 Free PMC article.
21 results