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Article

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.

Nature genetics - 27 May 2012

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

Abstract excerpt

Using targeted exome sequencing, we identified mutations in NNT, an antioxidant defense gene, in individuals 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 adrenocortical cell line resulted in impaired redox potential and increased reactive oxygen species (ROS) levels. Our...

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Identifiers

PMID: 22634753
DOI: 10.1038/ng.2299
PMCID: PMC3386896

Genes

NNT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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