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

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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Bibliographic Details
Main Authors: 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.
Format: Online
Language:English
Published: 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3386896/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3386896/

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