dc.contributor.author | Chapple, J. Paul | |
dc.contributor.author | Metherell, Louise A. | |
dc.contributor.author | Banerjee, Ritwik | |
dc.contributor.author | King, Peter J. | |
dc.contributor.author | Clark, Adrian J. L. | |
dc.contributor.author | Saka, H. Nurcin | |
dc.contributor.author | Meimaridou, Eirini | |
dc.contributor.author | Kowalczyk, Julia | |
dc.contributor.author | Guasti, Leonardo | |
dc.contributor.author | Hughes, Claire R. | |
dc.contributor.author | Wagner, Florian | |
dc.contributor.author | Frommolt, Peter | |
dc.contributor.author | Nuernberg, Peter | |
dc.contributor.author | Mann, Nicholas P. | |
dc.date.accessioned | 2021-03-03T17:44:11Z | |
dc.date.available | 2021-03-03T17:44:11Z | |
dc.date.issued | 2012 | |
dc.identifier.citation | Meimaridou E., Kowalczyk J., Guasti L., Hughes C. R. , Wagner F., Frommolt P., Nuernberg P., Mann N. P. , Banerjee R., Saka H. N. , et al., "Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency", NATURE GENETICS, cilt.44, sa.7, ss.740-742, 2012 | |
dc.identifier.issn | 1061-4036 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_4b27fc33-7194-454d-ac5b-32e22e3faef0 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/53982 | |
dc.identifier.uri | https://doi.org/10.1038/ng.2299 | |
dc.description.abstract | 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 results suggest that NNT may have a role in ROS detoxification in human adrenal glands. | |
dc.language.iso | eng | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Yaşam Bilimleri | |
dc.title | Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency | |
dc.type | Makale | |
dc.relation.journal | NATURE GENETICS | |
dc.contributor.department | İstanbul Üniversitesi , , | |
dc.identifier.volume | 44 | |
dc.identifier.issue | 7 | |
dc.identifier.startpage | 740 | |
dc.identifier.endpage | 742 | |
dc.contributor.firstauthorID | 204991 | |