The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency (Q36755276)

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5 January 2020

title

The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency (English)

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5 January 2020

3

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Berenice Bilharinho Mendonça

5 January 2020

4

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5 January 2020

Tania Bachega

5

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5 January 2020

author name string

Larissa G Gomes

1

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5 January 2020

Ningwu Huang

2

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5 January 2020

Walter L Miller

6

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5 January 2020

language of work or name

English

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publication date

8 April 2008

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The Journal of Clinical Endocrinology and Metabolism

5 January 2020

published in

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5 January 2020

volume

93

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5 January 2020

issue

7

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5 January 2020

page(s)

2913-2916

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Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations

5 January 2020

cites work

1 reference

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Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2453048

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2453048

Minireview: regulation of steroidogenesis by electron transfer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2453048

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2453048

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2453048

Dexamethasone does not exert direct intracellular feedback on steroidogenesis in human adrenal NCI-H295A cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2453048

The molecular genetics of 21-hydroxylase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2453048

Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2453048

Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2453048

Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2453048

Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2453048

Congenital adrenal hyperplasia.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2453048

Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2453048

Steroid 21-hydroxylase deficiency: genotype may not predict phenotype

5 September 2018

1 reference

12 December 2020

Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population

1 reference

12 December 2020

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency

1 reference

12 December 2020

Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations

1 reference

12 December 2020

Differential Inhibition of CYP17A1 and CYP21A2 Activities by the P450 Oxidoreductase Mutant A287P

1 reference

12 December 2020

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2008-0304

1 reference

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5 January 2020

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5 January 2020

PubMed publication ID

18397975

1 reference