Journal article
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
- Abstract:
-
In cortisone reductase deficiency (CRD), activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS; refs. 1,2). This suggests a defect in the gene HSD11B1 encoding 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1), a primary regulator of tissue-specific glucocorticoid bioavailability. We identified intronic mutations in HSD11B1 that resulted in reduced gene transcription in th...
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- Publication status:
- Published
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- Publisher copy:
- 10.1038/ng1214
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Authors
Bibliographic Details
- Journal:
- Nature genetics
- Volume:
- 34
- Issue:
- 4
- Pages:
- 434-439
- Publication date:
- 2003-08-01
- DOI:
- EISSN:
-
1546-1718
- ISSN:
-
1061-4036
- Source identifiers:
-
482107
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:482107
- UUID:
-
uuid:c470a7b2-876e-4057-a101-71370813ae2b
- Local pid:
- pubs:482107
- Deposit date:
- 2014-08-29
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- Copyright date:
- 2003
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