Mutations in Nicotinamide Nucleotide Transhydrogenase (NNT) cause familial glucocorticoid deficiency

Using targeted exome sequencing we identified mutations in NNT, an antioxidant defence gene, in patients with familial glucocorticoid deficiency. In mice with Nnt loss, higher levels of adrenocortical cell apoptosis and impaired glucocorticoid production were observed. NNT knockdown in a human adren...

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Detalles Bibliográficos
Autores principales: Meimaridou, Eirini, Kowalczyk, Julia, Guasti, Leonardo, Hughes, Claire R., Wagner, Florian, Frommolt, Peter, Nürnberg, Peter, Mann, Nicholas P., Banerjee, Ritwik, Saka, H. Nurcin, Chapple, J. Paul, King, Peter J., Clark, Adrian J.L., Metherell, Louise A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3386896/
https://www.ncbi.nlm.nih.gov/pubmed/22634753
http://dx.doi.org/10.1038/ng.2299

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3386896/
https://www.ncbi.nlm.nih.gov/pubmed/22634753
http://dx.doi.org/10.1038/ng.2299

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