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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Библиографические подробности
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: 2012
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3386896/
https://ncbi.nlm.nih.gov/pubmed/22634753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2299
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