Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Nature Genetics

Volumn 44, Issue 7, 2012, Pages 740-742

  Meimaridou, Eirini ^a   Kowalczyk, Julia ^a   Guasti, Leonardo ^a   Hughes, Claire R ^a   Wagner, Florian ^b   Frommolt, Peter ^c   Nürnberg, Peter ^b,c   Mann, Nicholas P ^d   Banerjee, Ritwik ^e   Saka, H Nurcin ^f   Chapple, J Paul ^a   King, Peter J ^a   Clark, Adrian J L ^a   Metherell, Louise A ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b ATLAS BIOLABS GMBH   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d ROYAL BERKSHIRE HOSPITAL   (United Kingdom)

^e LUTON AND DUNSTABLE HOSPITAL   (United Kingdom)

^f ISTANBUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOCORTICOID; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE;

ARTICLE; FAMILIAL DISEASE; FAMILIAL GLUCOCORTICOID DEFICIENCY; GENE; GENE LOSS; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; NICOTINAMIDE ADENINE DINUCLEOTIDE (PHOSPHATE) TRANSHYDROGENASE GENE; NONHUMAN; OXIDATION REDUCTION POTENTIAL; OXIDATIVE STRESS; PRIORITY JOURNAL;

ADRENAL CORTEX NEOPLASMS; ADRENAL GLANDS; ADRENAL INSUFFICIENCY; AMINO ACID SEQUENCE; ANIMALS; ANTIOXIDANTS; APOPTOSIS; CELL LINE, TUMOR; CHILD, PRESCHOOL; ESOPHAGEAL ACHALASIA; EXOME; GLUCOCORTICOIDS; HUMANS; INFANT; MALE; MICE; MICE, INBRED C57BL; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; NADP TRANSHYDROGENASES; OXIDATION-REDUCTION; REACTIVE OXYGEN SPECIES; SEQUENCE ALIGNMENT;

MUS;

EID: 84863003306     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2299     Document Type: Article

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