Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8 (Q24309012)

cytochrome P450 family 11 subfamily B member 1

inferred from title

1 reference

cortisol biosynthetic process

GOA release 2020-03-11

1 reference

congenital adrenal hyperplasia

GOA release 2020-03-11

1 reference

K M Curnow

1

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L Slutsker

2

0 references

J Vitek

3

0 references

T Cole

4

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P W Speiser

5

0 references

M I New

6

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P C White

7

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L Pascoe

Proceedings of the National Academy of Sciences of the United States of America

8

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language of work or name

English

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publication date

15 May 1993

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published in

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volume

90

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page(s)

4552-6

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issue

10

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cites work

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

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19 March 2017

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Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2

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Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme

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

19 March 2017

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

19 March 2017

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Identification by site-directed mutagenesis of two lysine residues in cholesterol side chain cleavage cytochrome P450 that are essential for adrenodoxin binding

19 March 2017

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Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase

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Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: up-date 88 of the French multicentric study

27 September 2017

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Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency

27 September 2017

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30 May 2018

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A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

30 May 2018

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28 July 2018

1 reference

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The bidirectional transfer of DNA and RNA to nitrocellulose or diazobenzyloxymethyl-paper

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8506298

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8506298

12 December 2020

inferred from PubMed ID database lookup

11 Beta-hydroxylase deficiency congenital adrenal hyperplasia: update of prenatal diagnosis

1 reference

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https://pubmed.ncbi.nlm.nih.gov/8506298

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.90.10.4552

1 reference

685996

ADS bibcode

1993PNAS...90.4552C

0 references

685996

1 reference

1 reference

1 reference