Pathogenesis of disorders caused by human P450 oxidoreductase mutations
01.07.2012 – 30.06.2016
Summary
Scientific abstract
Summary: Pathogenesis of disorders caused by human P450 oxidoreductase mutationsBACKGROUND: Mutations in human NADPH cytochrome P450 oxidoreductase (POR, CPR, CYPOR) cause congenital adrenal hyperplasia (Flück, Tajima et al. 2004). All Microsomal P450s involved in steroid/drug metabolism need POR for electron transfer from NADPH, therefore it was suggested that POR mutations are unlikely (Miller 1986). Patients with apparen...
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Persons
Applicants
- Amit Pandey, Kinderklinik Inselspital, Switzerland
Employees
- Shaheena Parween, Abteilung für Pädiatrische Endokrinologie, Diabetologie und Stoffwechsel Medizinische Universitäts-Kinderklinik, Switzerland
- Sameer Udhane, Abteilung für Pädiatrische Endokrinologie, Diabetologie und Stoffwechsel Medizinische Universitäts-Kinderklinik, Switzerland
Disciplines and keywords
mySNF disciplines (provided by researchers): Endocrinology
Fields of research (mapped from mySNF Disciplines): Biomedical and Clinical Sciences
Keywords: P450 oxidoreductase, POR, Steroid biosynthesis, disorders of sexual development, CYP3A4, CYP17A1, CYP19A1, CYP21A2, Heme oxygenase, Drug metabolism, Pharmacogenomics, Cytochrome P450