P450 oxidoreductase deficiency: a new disorder of steroidogenesis (Q36391566)

13 August 2017

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title

P450 oxidoreductase deficiency: a new disorder of steroidogenesis (English)

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13 August 2017

Vishal Agrawal

5

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Amit V. Pandey

object named as

Amit V Pandey

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author name string

Walter L Miller

1

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13 August 2017

Ningwu Huang

2

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13 August 2017

Christa E Flück

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13 August 2017

language of work or name

English

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publication date

1 December 2005

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Annals of the New York Academy of Sciences

13 August 2017

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13 August 2017

1061

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13 August 2017

100-108

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Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase

13 August 2017

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Inactivation of the hepatic cytochrome P450 system by conditional deletion of hepatic cytochrome P450 reductase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Conditional knockout of the mouse NADPH-cytochrome p450 reductase gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Liver-specific deletion of the NADPH-cytochrome P450 reductase gene: impact on plasma cholesterol homeostasis and the function and regulation of microsomal cytochrome P450 and heme oxygenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Transgenic mice with a hypomorphic NADPH-cytochrome P450 reductase gene: effects on development, reproduction, and microsomal cytochrome P450

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Three-dimensional structure of NADPH-cytochrome P450 reductase: prototype for FMN- and FAD-containing enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Role of acidic residues in the interaction of NADPH-cytochrome P450 oxidoreductase with cytochrome P450 and cytochrome c.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

The interaction of NADPH-P450 reductase with P450: an electrochemical study of the role of the flavin mononucleotide-binding domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Structure and function of cytochromes P450: a comparative analysis of three crystal structures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

The genetic and functional basis of isolated 17,20-lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Association of cytochromes P450 with their reductases: opposite sign of the electrostatic interactions in P450BM-3 as compared with the microsomal 2B4 system

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Structure of a cytochrome P450-redox partner electron-transfer complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

The regulation of 17,20 lyase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Regulation of 17,20 lyase activity by cytochrome b5 and by serine phosphorylation of P450c17

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Protein phosphatase 2A and phosphoprotein SET regulate androgen production by P450c17

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

Glu-320 and Asp-323 are determinants of the CYP4A1 hydroxylation regiospecificity and resistance to inactivation by 1-aminobenzotriazole

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1336.012

21 January 2018

Identifiers

DOI

10.1196/ANNALS.1336.012

1 reference

13 August 2017

1 reference