Cargando…

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency

PURPOSE: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is characterized by adrenal insufficiency, ambiguous genitalia, maternal virilization during pregnancy, a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lee, Yena, Choi, Jin-Ho, Oh, Arum, Kim, Gu-Hwan, Park, Sook-Hyun, Moon, Jung Eun, Ko, Cheol Woo, Cheon, Chong-Kun, Yoo, Han-Wook
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Society of Pediatric Endocrinology 2020
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336261/ https://www.ncbi.nlm.nih.gov/pubmed/32615689 http://dx.doi.org/10.6065/apem.1938152.076

Ejemplares similares

Effects of cytochrome P450 oxidoreductase genotypes on the pharmacokinetics of amlodipine in healthy Korean subjects
por: Han, Ji Min, et al.
Publicado: (2020)

Probing the Role of the Hinge Segment of Cytochrome P450 Oxidoreductase in the Interaction with Cytochrome P450
por: Campelo, Diana, et al.
Publicado: (2018)

Cytochrome P450 Oxidoreductase Deficiency: Novel Cause of Ambiguity with Primary Amenorrhea
por: Khadilkar, Kranti Shreesh, et al.
Publicado: (2017)

Correlation of Cytochrome P450 Oxidoreductase Expression with the Expression of 10 Isoforms of Cytochrome P450 in Human Liver
por: Zhang, Hai-Feng, et al.
Publicado: (2016)

Cytochrome P450 oxidoreductase participates in nitric oxide consumption by rat brain
por: Hall, Catherine N., et al.
Publicado: (2009)

An electron transfer competent structural ensemble of membrane-bound cytochrome P450 1A1 and cytochrome P450 oxidoreductase
por: Mukherjee, Goutam, et al.
Publicado: (2021)

Application of nanodisc technology for direct electrochemical investigation of plant cytochrome P450s and their NADPH P450 oxidoreductase
por: Bavishi, Krutika, et al.
Publicado: (2016)

Biased cytochrome P450-mediated metabolism via small-molecule ligands binding P450 oxidoreductase
por: Jensen, Simon Bo, et al.
Publicado: (2021)

Conformational Equilibrium of NADPH–Cytochrome P450 Oxidoreductase Is Essential for Heme Oxygenase Reaction
por: Sugishima, Masakazu, et al.
Publicado: (2020)

Single Mutations in Cytochrome P450 Oxidoreductase Can Alter the Specificity of Human Cytochrome P450 1A2-Mediated Caffeine Metabolism
por: Esteves, Francisco, et al.
Publicado: (2023)

Amphipol-facilitated elucidation of the functional tetrameric complex of full-length cytochrome P450 CYP2B4 and NADPH-cytochrome P450 oxidoreductase
por: Cheng, Shen, et al.
Publicado: (2021)

Modeling of Anopheles minimus Mosquito NADPH-Cytochrome P450 Oxidoreductase (CYPOR) and Mutagenesis Analysis
por: Sarapusit, Songklod, et al.
Publicado: (2013)

Cytochrome P450 Oxidoreductase Influences CYP2B6 Activity in Cyclophosphamide Bioactivation
por: El-Serafi, Ibrahim, et al.
Publicado: (2015)

Survey of Human Oxidoreductases and Cytochrome P450 Enzymes Involved in the Metabolism of Xenobiotic and Natural Chemicals
por: Rendic, Slobodan, et al.
Publicado: (2014)

Epigenetic alterations in cytochrome P450 oxidoreductase (Por) in sperm of rats exposed to tetrahydrocannabinol (THC)
por: Acharya, Kelly S., et al.
Publicado: (2020)

Pharmacogenomics of human P450 oxidoreductase
por: Pandey, Amit V., et al.
Publicado: (2014)

Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
por: Zhang, Jin, et al.
Publicado: (2022)

Stable Chinese Hamster Ovary Suspension Cell Lines Harboring Recombinant Human Cytochrome P450 Oxidoreductase and Human Cytochrome P450 Monooxygenases as Platform for In Vitro Biotransformation Studies
por: Schulz, Christian, et al.
Publicado: (2023)

Direct observation of multiple conformational states in Cytochrome P450 oxidoreductase and their modulation by membrane environment and ionic strength
por: Bavishi, Krutika, et al.
Publicado: (2018)

Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review
por: Bai, Yang, et al.
Publicado: (2017)

Compound heterozygous variants in POR gene identified by whole‐exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency
por: Hao, Chanjuan, et al.
Publicado: (2018)

Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children
por: Fan, Lijun, et al.
Publicado: (2019)

The Role of the FMN-Domain of Human Cytochrome P450 Oxidoreductase in Its Promiscuous Interactions With Structurally Diverse Redox Partners
por: Esteves, Francisco, et al.
Publicado: (2020)

Enhanced DNA adduct formation by benzo[a]pyrene in human liver cells lacking cytochrome P450 oxidoreductase
por: Reed, Lindsay, et al.
Publicado: (2020)

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype
por: Wang, Chunqing, et al.
Publicado: (2023)

Differentiation‐associated urothelial cytochrome P450 oxidoreductase predicates the xenobiotic‐metabolizing activity of “luminal” muscle‐invasive bladder cancers
por: Baker, Simon C., et al.
Publicado: (2018)

Corrigendum: The Role of the FMN-Domain of Human Cytochrome P450 Oxidoreductase in Its Promiscuous Interactions With Structurally Diverse Redox Partners
por: Esteves, Francisco, et al.
Publicado: (2020)

Hepatic nuclear factor 4 alpha promotes the ferroptosis of lung adenocarcinoma via transcriptional activation of cytochrome P450 oxidoreductase
por: Besskaya, Valeria, et al.
Publicado: (2023)

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency
por: Reisch, Nicole, et al.
Publicado: (2013)

The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation
por: Cheon, Chong-Kun, et al.
Publicado: (2015)

The evolutionary history of Cytochrome P450 genes in four filamentous Ascomycetes
por: Deng, Jixin, et al.
Publicado: (2007)

Fungal cytochrome P450 database
por: Park, Jongsun, et al.
Publicado: (2008)

Genetic variants and Expression of Cytochrome p450 Oxidoreductase Predict Postoperative Survival in Patients with Hepatitis B Virus-Related Hepatocellular Carcinoma
por: Huang, Ketuan, et al.
Publicado: (2019)

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
por: Krone, Nils, et al.
Publicado: (2012)

Interindividual variability of CYP2C19-catalyzed drug metabolism due to differences in gene diplotypes and cytochrome P450 oxidoreductase content
por: Shirasaka, Y, et al.
Publicado: (2016)

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency
por: Bonamichi, Beatriz D. S. F., et al.
Publicado: (2016)

A cytochrome c is the natural electron acceptor for nicotine oxidoreductase
por: Dulchavsky, Mark, et al.
Publicado: (2021)

The Cytochrome P450 Homepage
por: Nelson, David R
Publicado: (2009)

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
por: Idkowiak, Jan, et al.
Publicado: (2011)

MON-060 P-450 Oxidoreductase Deficiency with Antley Bixler Phenotype: A Novel Mutation
por: Kumar, Anshul, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_5jb3r827d40ugdk4rg2qbtsadu