Cargando…

Compound heterozygous variants in POR gene identified by whole‐exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency

IMPORTANCE: Cytochrome P450 oxidoreductase deficiency (PORD) is a rare disease exhibiting a variety of clinical manifestations. This condition specifically leads to disordered steroidogenesis, which can affect the development of the reproductive system, skeleton, and other parts of the body. The sev...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hao, Chanjuan, Guo, Jun, Guo, Ruolan, Qi, Zhan, Li, Wei, Ni, Xin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331414/ https://www.ncbi.nlm.nih.gov/pubmed/32851239 http://dx.doi.org/10.1002/ped4.12035

Ejemplares similares

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

Epigenetic alterations in cytochrome P450 oxidoreductase (Por) in sperm of rats exposed to tetrahydrocannabinol (THC)
por: Acharya, Kelly S., 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 caused by R457H mutation in POR gene in Chinese: case report and literature review
por: Bai, Yang, et al.
Publicado: (2017)

Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa
por: Wang, Yun, et al.
Publicado: (2012)

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)

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency
por: Lee, Yena, et al.
Publicado: (2020)

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders
por: Hu, Xuyun, et al.
Publicado: (2020)

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)

Effects of cytochrome P450 oxidoreductase genotypes on the pharmacokinetics of amlodipine in healthy Korean subjects
por: Han, Ji Min, 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)

Whole-exome sequencing of a pedigree segregating asthma
por: DeWan, Andrew T, et al.
Publicado: (2012)

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

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees
por: Kamphans, Tom, et al.
Publicado: (2013)

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees
por: Yang, Bin, et al.
Publicado: (2018)

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)

Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China
por: Liu, Yingchao, et al.
Publicado: (2021)

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)

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)

Influence of Various Polymorphic Variants of Cytochrome P450 Oxidoreductase (POR) on Drug Metabolic Activity of CYP3A4 and CYP2B6
por: Chen, Xuan, et al.
Publicado: (2012)

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)

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

Cytochrome P450 reductase (POR) as a ferroptosis fuel
por: Koppula, Pranavi, et al.
Publicado: (2021)

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

Unraveling the genetic causes in large pedigrees with gout by whole-exome sequencing
por: Xia, Xiaoru, et al.
Publicado: (2020)

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)

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
por: Zhao, Mei, et al.
Publicado: (2019)

Whole-Exome Sequencing Identifies a Novel CPT2 Mutation in a Pedigree With Gout
por: Guo, Yong, et al.
Publicado: (2022)

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
por: Gao, Xue, et al.
Publicado: (2013)

Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia
por: Okada, Hirofumi, et al.
Publicado: (2022)

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)

Cannot write session to /tmp/vufind_sessions/sess_inekuqf5mvjnk6odn5heatpub8