Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency. (Q41989442)

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19 October 2019

title

Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency (English)

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19 October 2019

author name string

G Zhang

1

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19 October 2019

H Rodriguez

2

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19 October 2019

C E Fardella

3

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19 October 2019

D A Harris

4

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19 October 2019

W L Miller

5

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19 October 2019

language of work or name

English

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publication date

1 November 1995

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American Journal of Human Genetics

19 October 2019

published in

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19 October 2019

volume

57

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19 October 2019

issue

5

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19 October 2019

page(s)

1037-1043

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Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8

19 October 2019

cites work

1 reference

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Mutations in human 11 beta-hydroxylase genes: 11 beta-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran

5 June 2018

1 reference

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Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients

5 June 2018

1 reference

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Crystal structure of hemoprotein domain of P450BM-3, a prototype for microsomal P450's

5 June 2018

1 reference

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Crystal structure and refinement of cytochrome P450terp at 2.3 A resolution

5 June 2018

1 reference

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P450c11B3 mRNA, transcribed from a third P450c11 gene, is expressed in a tissue-specific, developmentally, and hormonally regulated fashion in the rodent adrenal and encodes a protein with both 11-hydroxylase and 18-hydroxylase activities

5 June 2018

1 reference

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Basal transcriptional activity and cyclic adenosine 3',5'-monophosphate responsiveness of the human cytochrome P450scc promoter transfected into MA-10 Leydig cells

5 June 2018

1 reference

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The P450 superfamily: update on new sequences, gene mapping, accession numbers, early trivial names of enzymes, and nomenclature

5 June 2018

1 reference

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High-resolution crystal structure of cytochrome P450cam

5 June 2018

1 reference

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Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11)

5 June 2018

1 reference

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Molecular biology of steroid hormone synthesis

5 June 2018

1 reference

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Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801390

Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta)

5 June 2018

1 reference

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Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta

5 June 2018

1 reference

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Cloning and expression of a cDNA for human cytochrome P-450aldo as related to primary aldosteronism

5 June 2018

1 reference

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Zone-specific regulation of two messenger RNAs for P450c11 in the adrenals of pregnant and nonpregnant rats

5 June 2018

1 reference

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A hybrid cell mapping panel for regional localization of probes to human chromosome 8

5 June 2018

1 reference

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A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801390

The Product of the CYP11B2 Gene Is Required for Aldosterone Biosynthesis in the Human Adrenal Cortex

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801390

Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans

5 June 2018

1 reference

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Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801390

Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency

5 June 2018

1 reference

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Identification of positive and negative placenta-specific basal elements and a cyclic adenosine 3',5'-monophosphate response element in the human gene for P450scc

5 June 2018

1 reference

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Artificial mutations in P450c11AS (aldosterone synthase) can increase enzymatic activity: a model for low-renin hypertension?

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801390

Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency

18 August 2018

1 reference

12 December 2020

On the membrane topology of vertebrate cytochrome P-450 proteins

1 reference

12 December 2020

Isolation of aldosterone synthase cytochrome P-450 from zona glomerulosa mitochondria of rat adrenal cortex

1 reference

12 December 2020

Purification and characterization of two distinct forms of rat adrenal cytochrome P450(11) beta: functional and structural aspects

1 reference

12 December 2020

Aldosterone synthase cytochrome P-450 expressed in the adrenals of patients with primary aldosteronism

1 reference

12 December 2020

The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485152%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

PubMed publication ID

7485152

1 reference