The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders

WL Miller, RJ Auchus - Endocrine reviews, 2011 - academic.oup.com
Steroidogenesis, the processes by which cholesterol is converted to steroid hormones,
involves transport proteins, enzymes, redox partners and cofactors. Most steroidogenic …

NADPH P450 oxidoreductase: structure, function, and pathology of diseases

AV Pandey, CE Flück - Pharmacology & therapeutics, 2013 - Elsevier
Cytochrome P450 oxidoreductase (POR) is an enzyme that is essential for multiple
metabolic processes, chiefly among them are reactions catalyzed by cytochrome P450 …

Disorders of sex development: a new definition and classification

IA Hughes - Best practice & research Clinical endocrinology & …, 2008 - Elsevier
A newborn infant with ambiguous genitalia is a complex enough problem to unravel without
any further clouding by confusing terms. The nomenclature 'intersex','hermaphrodite'and …

Genetics of congenital adrenal hyperplasia

N Krone, W Arlt - Best practice & research clinical endocrinology & …, 2009 - Elsevier
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic
disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of …

Steroidogenic enzymes

WL Miller - Disorders of the human Adrenal cortex, 2008 - karger.com
The enzymes and pathways of steroidogenesis are familiar to most endocrinologists, but the
biochemistry and molecular biology of these processes are still being studied. This chapter …

Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations

N Huang, V Agrawal, KM Giacomini… - Proceedings of the …, 2008 - National Acad Sciences
P450 oxidoreductase (POR) is an electron-donating flavoprotein required for the activity of
all microsomal cytochrome P450 enzymes. We sequenced 5,655 bp of the POR gene in a …

The P450 Oxidoreductase *28 SNP is Associated with Low Initial Tacrolimus Exposure and Increased Dose Requirements in CYP3A5-Expressing Renal Recipients

H De Jonge, C Metalidis, M Naesens… - …, 2011 - Taylor & Francis
Aim: Recently a SNP of the gene encoding P450 oxidoreductase (POR* 28; rs1057868C> T)
has been associated with increased in vivo CYP3A activity using midazolam as a drug …

Disorders of sex development: effect of molecular diagnostics

JC Achermann, S Domenice, TASS Bachega… - Nature Reviews …, 2015 - nature.com
Disorders of sex development (DSDs) are a diverse group of conditions that can be
challenging to diagnose accurately using standard phenotypic and biochemical …

The P450 oxidoreductase genotype is associated with CYP3A activity in vivo as measured by the midazolam phenotyping test

B Oneda, S Crettol, EJ Sirot, M Bochud… - Pharmacogenetics …, 2009 - journals.lww.com
Background CYP3A4, CYP3A5 and CYP3A7 are hepatic enzymes that metabolize about
50% of drugs on the market, with a large overlap in their specificities. We investigated the …

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients

M Fukami, G Nishimura, K Homma… - The Journal of …, 2009 - academic.oup.com
Abstract Context: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal
recessive disorder characterized by skeletal dysplasia, adrenal dysfunction, disorders of sex …