Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis

CONTEXT: Human NR5A1/SF-1 mutations cause 46,XY disorder of sex development (DSD) with broad phenotypic variability, and rarely cause adrenal insufficiency although SF-1 is an important transcription factor for many genes involved in steroidogenesis. In addition, the Sf-1 knockout mouse develops obe...

Descripción completa

Detalles Bibliográficos
Autores principales: Malikova, Jana, Camats, Núria, Fernández-Cancio, Mónica, Heath, Karen, González, Isabel, Caimarí, María, del Campo, Miguel, Albisu, Marian, Kolouskova, Stanislava, Audí, Laura, Flück, Christa E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133263/
https://www.ncbi.nlm.nih.gov/pubmed/25122490
http://dx.doi.org/10.1371/journal.pone.0104838

Ejemplares similares

Ejemplares similares