Associated Papers
Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.
Gusmano C et al.
Journal of Endocrinological Investigation, 2023
Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Zhang J et al.
Frontiers in Endocrinology, 2022
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
Genetic variation of human cytochrome p450 reductase as a potential biomarker for mitomycin C-induced cytotoxicity.
Wang SL et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2007
Biochemical analysis of mutations in P450 oxidoreductase.
Pandey AV
Biochemical Society Transactions, 2006
Effect of genetic variation on human cytochrome p450 reductase-mediated paraquat cytotoxicity.
Han JF et al.
Toxicological Sciences : an Official Journal of the Society of Toxicology, 2006
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait.
Adachi M et al.
American Journal of Medical Genetics. Part A, 2006
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.
Fukami M et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.
Adachi M et al.
American Journal of Medical Genetics. Part A, 2004
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