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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
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2025-09-01
Serier:EBioMedicine
Fag:
ACMG
Androgen receptor
Exome sequencing
Luciferase assay
Nuclear receptor
Steroidogenic factor 1
Online adgang:http://www.sciencedirect.com/science/article/pii/S2352396425003433
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