Publications
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype* - Journal of Biological Chemistry
PDF) Human P450 Oxidoreductase Deficiency
Publications
Publications
PDF) Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis
Publications
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study
Loss of multiple enzyme activities due to the human genetic variation P284T in NADPH cytochrome P450 oxidoreductase | bioRxiv
MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction in: European Journal of Endocrinology Volume 177 Issue 3 (2017)
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development - Bergen - 2020 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Frontiers | Altered CYP19A1 and CYP3A4 Activities Due to Mutations A115V, T142A, Q153R and P284L in the Human P450 Oxidoreductase | Pharmacology
Publications
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants - Simonetti - 2018 - Human Mutation - Wiley Online Library
Impact of POR variants on CYP3A4 activity. A pie chart showing the... | Download Scientific Diagram
Current Awareness on Comparative and Functional Genomics – topic of research paper in Biological sciences. Download scholarly article PDF and read for free on CyberLeninka open science hub.
Impact of POR variants on CYP3A4 activity. A pie chart showing the... | Download Scientific Diagram
PDF) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses – topic of research paper in Biological sciences. Download scholarly article PDF and read for free on CyberLeninka open science hub.
Molecular Basis of Adrenal Insufficiency | Pediatric Research
Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesi
The Adrenal
JoX | Free Full-Text | The Central Role of Cytochrome P450 in Xenobiotic Metabolism—A Brief Review on a Fascinating Enzyme Family | HTML
PDF) Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome | Nature Genetics
