Flück Pandey, Christa Emma; Tajima, Toshihro; Pandey, Amit Vikram; Arlt, Wiebke; Okuhara, Kouji; Verge, Charles F.; Jabs, Ethylin Wang; Mendonça, Berenice B.; Fujieda, Kenji; Miller, Walter L. (2004). Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nature genetics, 36(3), pp. 228-230. Nature America 10.1038/ng1300
Full text not available from this repository.Deficient activities of multiple steroidogenic enzymes have been reported without and with Antley-Bixler syndrome (ABS), but mutations of corresponding cytochrome P450 enzymes have not been found. We identified mutations in POR, encoding P450 oxidoreductase, the obligate electron donor for these enzymes, in a woman with amenorrhea and three children with ABS, even though knock-out of POR is embryonically lethal in mice. Mutations of POR also affect drug-metabolizing P450 enzymes, explaining the association of ABS with maternal fluconazole ingestion.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Endocrinology/Metabolic Disorders |
UniBE Contributor: |
Flück Pandey, Christa Emma, Pandey, Amit Vikram |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1061-4036 |
Publisher: |
Nature America |
Language: |
English |
Submitter: |
Amit Vikram Pandey |
Date Deposited: |
22 Aug 2014 10:55 |
Last Modified: |
06 Jan 2023 23:16 |
Publisher DOI: |
10.1038/ng1300 |
PubMed ID: |
14758361 |
URI: |
https://boris.unibe.ch/id/eprint/41747 |
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