Associated Papers
Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families.
Alwan IA et al.
Journal of Clinical & Translational Endocrinology, 2026
Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT variants.
Francisco A et al.
European Journal of Endocrinology, 2024
Genetic defects in pediatric-onset adrenal insufficiency in Japan.
Amano N et al.
European Journal of Endocrinology, 2017
Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.
Metherell LA et al.
Human Mutation, 2016
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
Roucher-Boulez F et al.
European Journal of Endocrinology, 2016
A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).
Jazayeri O et al.
European Journal of Medical Genetics, 2015
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
Weinberg-Shukron A et al.
Journal of Medical Genetics, 2015
Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency.
Fujisawa Y et al.
Bba Clinical, 2015
A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.
Yamaguchi R et al.
Endocrine Journal, 2013
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