Normal and premature adrenarche

RL Rosenfield - Endocrine reviews, 2021 - academic.oup.com
Adrenarche is the maturational increase in adrenal androgen production that normally
begins in early childhood. It results from changes in the secretory response to …

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 …

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

N Krone, N Reisch, J Idkowiak, V Dhir… - The Journal of …, 2012 - academic.oup.com
Context: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal
hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex …

P450 Oxidoreductase deficiency: analysis of mutations and polymorphisms

FZ Burkhard, S Parween, SS Udhane, CE Flück… - The Journal of steroid …, 2017 - Elsevier
Cytochrome P450 oxidoreductase (POR) is required for metabolic reactions of steroid and
drug metabolizing cytochrome P450 proteins located in endoplasmic reticulum. Mutations in …

Pharmacogenomics of human P450 oxidoreductase

AV Pandey, P Sproll - Frontiers in pharmacology, 2014 - frontiersin.org
Cytochrome P450 oxidoreductase (POR) supports reactions of microsomal cytochrome
P450 which metabolize drugs and steroid hormones. Mutations in POR cause disorders of …

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

NC Hornig, M Ukat, HU Schweikert… - The Journal of …, 2016 - academic.oup.com
Context: Only approximately 85% of patients with a clinical diagnosis complete androgen
insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can …

Oligogenic origin of differences of sex development in humans

N Camats, CE Flück, L Audí - International journal of molecular sciences, 2020 - mdpi.com
Sex development is a very complex biological event that requires the concerted
collaboration of a large network of genes in a spatial and temporal correct fashion. In the …

[HTML][HTML] Monogenic disorders of adrenal steroidogenesis

ES Baranowski, W Arlt, J Idkowiak - Hormone research in paediatrics, 2018 - karger.com
Disorders of adrenal steroidogenesis comprise autosomal recessive conditions affecting
steroidogenic enzymes of the adrenal cortex. Those are located within the 3 major branches …

Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study

R Naamneh Elzenaty… - The Journal of …, 2024 - academic.oup.com
Abstract Context Steroidogenic factor 1 (NR5A1/SF-1) is a nuclear receptor that regulates
sex development, steroidogenesis and reproduction. Genetic variants in NR5A1/SF-1 are …

Evidence for DNA-binding domain–ligand-binding domain communications in the androgen receptor

C Helsen, V Dubois, A Verfaillie, J Young… - … and cellular biology, 2012 - Am Soc Microbiol
DNA binding as well as ligand binding by nuclear receptors has been studied extensively.
Both binding functions are attributed to isolated domains of which the structure is known …