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Article

P450 oxidoreductase deficiency: a new disorder of steroidogenesis.

Annals of the New York Academy of Sciences - 1 Dec 2005

Miller Walter L, Huang Ningwu, Pandey Amit V, Flück Christa E, Agrawal Vishal

Abstract excerpt

Microsomal P450 enzymes, which metabolize drugs and catalyze steroid biosynthesis require electron donation from NADPH via P450 oxidoreductase (POR). POR knockout mice are embryonically lethal, but we found recessive human POR missense mutations causing disordered steroidogenesis and Antley-Bixler syndrome (ABS), a skeletal malformation syndrome featuring craniosynostosis. Dominant mutations in exons 8 and 10 of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16467261
DOI: 10.1196/annals.1336.012

Genes

POR
FGFR2

Variants

Provenance

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Related research

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P450 oxidoreductase deficiency: a new disorder of steroidogenesis.PMID 16467261Read ↗

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Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.Semantic proximity Read ↗

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.Semantic proximity Read ↗

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.Semantic proximity Read ↗

P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations.Semantic proximity Read ↗

Consequences of POR mutations and polymorphisms.Semantic proximity Read ↗

Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects.Semantic proximity Read ↗

NADPH P450 oxidoreductase: structure, function, and pathology of diseases.Semantic proximity Read ↗

Clinical and biochemical consequences of p450 oxidoreductase deficiency.Semantic proximity Read ↗

A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.Semantic proximity Read ↗

P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes.Semantic proximity Read ↗

Pharmacogenomics of human P450 oxidoreductaseSemantic proximity Read ↗

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