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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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Article
On-line přístup: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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