Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertilityResearch in context

Summary: Background: Nuclear receptors, including steroidogenic factor 1 (NR5A1/SF1) and the androgen receptor (AR), are transcription factors regulating physiological processes, e.g., reproduction. Pathogenic variants in these receptors are associated with a broad spectrum of phenotypes, ranging f...

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Principais autores:	Avinash S. Gaikwad, Margot J. Wyrwoll, Sophie A. Koser, Jana Emich, Johanna Kuß, Mariya Aravina, Claudia Krallmann, Jörg Gromoll, Sabine Kliesch, Sandra Laurentino, Birgit Stallmeyer, Corinna Friedrich, Frank Tüttelmann
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Elsevier 2025-09-01
סדרה:	EBioMedicine
נושאים:	ACMG Androgen receptor Exome sequencing Luciferase assay Nuclear receptor Steroidogenic factor 1
גישה מקוונת:	http://www.sciencedirect.com/science/article/pii/S2352396425003433
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