Associated Papers
The distinctive P450 oxidoreductase (PORD) urinary steroid metabolome in the first week of life: Report of three cases with severe disorder.
Baranowski ES et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2025
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
In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.
Nurhafizuddin M et al.
Molecules (basel, Switzerland), 2022
Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.
Li H et al.
Translational Pediatrics, 2021
Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review.
Unal E et al.
Hormones (athens, Greece), 2021
Variability in human drug metabolizing cytochrome P450 CYP2C9, CYP2C19 and CYP3A5 activities caused by genetic variations in cytochrome P450 oxidoreductase.
Velazquez MNR et al.
Biochemical and Biophysical Research Communications, 2019
In vitro fertilization-frozen embryo transfer in a patient with cytochrome P450 oxidoreductase deficiency: a case report.
Song T et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2018
Associations of the hypertension-related single nucleotide polymorphism rs11191548 with high-density lipoprotein cholesterol and leptin in Chinese children.
Wu L et al.
Bmc Medical Genetics, 2018
Polymorphisms in cytochrome P450 oxidoreductase and its effect on drug metabolism and efficacy.
Gong L et al.
Pharmacogenetics and Genomics, 2017
P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.
Burkhard FZ et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.
Parween S et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.
Bonamichi BD et al.
Archives of Endocrinology and Metabolism, 2016
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype.
McCammon KM et al.
The Journal of Biological Chemistry, 2016
Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses.
Tzetis M et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2016
Electron transfer by human wild-type and A287P mutant P450 oxidoreductase assessed by transient kinetics: functional basis of P450 oxidoreductase deficiency.
Jin Y et al.
The Biochemical Journal, 2015
Pharmacogenomics of human P450 oxidoreductase.
Pandey AV et al.
Frontiers in Pharmacology, 2014
Disorder of sex development as a diagnostic clue in the first Spanish known newborn with P450 oxidoreductase deficiency.
Sánchez-Garvín D et al.
Bmj Case Reports, 2013
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.
Guaragna-Filho G et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system.
Moutinho D et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2012
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Krone N et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Genetics: Genotype-phenotype correlations in patients with CPR deficiency.
McLarnon A
Nature Reviews. Endocrinology, 2012
Influence of various polymorphic variants of cytochrome P450 oxidoreductase (POR) on drug metabolic activity of CYP3A4 and CYP2B6.
Chen X et al.
Plos One, 2012
Mutations of human cytochrome P450 reductase differentially modulate heme oxygenase-1 activity and oligomerization.
Marohnic CC et al.
Archives of Biochemistry and Biophysics, 2011
Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency.
Xia C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency.
Herkert JC et al.
The Netherlands Journal of Medicine, 2011
Consequences of POR mutations and polymorphisms.
Miller WL et al.
Molecular and Cellular Endocrinology, 2011
Effects of genetic variants of human P450 oxidoreductase on catalysis by CYP2D6 in vitro.
Sandee D et al.
Pharmacogenetics and Genomics, 2010
Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism.
Flück CE et al.
Biochemical and Biophysical Research Communications, 2010
Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase.
Pandey AV et al.
Biochemical and Biophysical Research Communications, 2010
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.
Sahakitrungruang T et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Nomenclature for alleles of the cytochrome P450 oxidoreductase gene.
Sim SC et al.
Pharmacogenetics and Genomics, 2009
Genetic variation in human P450 oxidoreductase.
Miller WL et al.
Molecular and Cellular Endocrinology, 2009
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.
Bleicken C et al.
Human Mutation, 2009
Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19.
Agrawal V et al.
Pharmacogenetics and Genomics, 2008
P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity.
Hart SN et al.
Expert Opinion on Drug Metabolism & Toxicology, 2008
Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase.
Pandey AV et al.
Molecular Endocrinology (baltimore, Md.), 2007
Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P.
Dhir V et al.
Molecular Endocrinology (baltimore, Md.), 2007
Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase.
Flück CE et al.
Fundamental & Clinical Pharmacology, 2007
Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.
Scott RR et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
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
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.
Williamson L et al.
American Journal of Medical Genetics. Part A, 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
P450 oxidoreductase deficiency: a new disorder of steroidogenesis.
Miller WL et al.
Annals of the New York Academy of Sciences, 2005
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
Huang N et al.
American Journal of Human Genetics, 2005
[Rare forms of female pseudohermaphroditism: when to investigate?].
Castro Md et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2005
P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations.
Miller WL
Trends in Endocrinology and Metabolism: Tem, 2004
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
Flück CE et al.
Nature Genetics, 2004
Cytochrome P450 oxidoreductase variant A503V contributes to the increased CYP3A5 activity with tacrolimus in vitro.
Gao Y et al.
Expert Opinion on Drug Metabolism & Toxicology, 0
Computational identification and analysis of deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in the human POR gene: a structural and functional impact.
Kumar R et al.
Journal of Biomolecular Structure & Dynamics, 0