Inhibition of NR5A1 Phosphorylation Alleviates a Transcriptional Suppression Defect Caused by a Novel NR0B1 Mutation

CONTEXT: Mutations in the NR0B1 gene, also well-known as the DAX1 gene, are known to cause congenital adrenal hypoplasia associated with hypogonadotropic hypogonadism. The abnormal NR0B1 protein fails to suppress the transcription of promoters of steroidogenic enzymes, which are also targets of NR5A...

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Detalles Bibliográficos
Autores principales: Abe, Ichiro, Tanaka, Tomoko, Ohe, Kenji, Fujii, Hideyuki, Nagata, Mai, Ochi, Kentaro, Senda, Yuki, Takeshita, Kaori, Koga, Midori, Kudo, Tadachika, Enjoji, Munechika, Yanase, Toshihiko, Kobayashi, Kunihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9113462/
https://www.ncbi.nlm.nih.gov/pubmed/35592512
http://dx.doi.org/10.1210/jendso/bvac068

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