The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis (Q24290489)

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

ChEBI release 2020-05-28

ChEBI ID

87476

1 reference

bile acid biosynthetic process

GOA release 2020-03-11

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GOA release 2020-03-11

intrahepatic cholestasis

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5

I Björkhem

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author name string

M Schwarz

1

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A C Wright

2

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D L Davis

3

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H Nazer

4

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D W Russell

Journal of Clinical Investigation

6

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language of work or name

English

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publication date

November 2000

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published in

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volume

106

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page(s)

1175-84

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issue

9

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cites work

Expression cloning of an oxysterol 7alpha-hydroxylase selective for 24-hydroxycholesterol

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cDNA cloning of mouse and human cholesterol 25-hydroxylases, polytopic membrane proteins that synthesize a potent oxysterol regulator of lipid metabolism

19 March 2017

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Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease

19 March 2017

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Cyp7b, a novel brain cytochrome P450, catalyzes the synthesis of neurosteroids 7alpha-hydroxy dehydroepiandrosterone and 7alpha-hydroxy pregnenolone

19 March 2017

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Cloning and expression of cDNA of human delta 4-3-oxosteroid 5 beta-reductase and substrate specificity of the expressed enzyme

19 March 2017

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The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase

19 March 2017

1 reference

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Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids

19 March 2017

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Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis

19 March 2017

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Isolation of a novel cDNA whose corresponding mRNA is accumulated in growth-arrested confluent but not in growing sub-confluent rat 3Y1 cells

19 March 2017

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Cloning and regulation of cholesterol 7 alpha-hydroxylase, the rate-limiting enzyme in bile acid biosynthesis

19 March 2017

1 reference

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An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets

19 March 2017

1 reference

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Identification and characterization of a mouse oxysterol 7alpha-hydroxylase cDNA.

27 September 2017

1 reference

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Structure-function relationships of 3 beta-hydroxysteroid dehydrogenase: contribution made by the molecular genetics of 3 beta-hydroxysteroid dehydrogenase deficiency.

27 September 2017

1 reference

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The multiple murine 3 beta-hydroxysteroid dehydrogenase isoforms: structure, function, and tissue- and developmentally specific expression

27 September 2017

1 reference

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Disruption of cholesterol 7alpha-hydroxylase gene in mice. II. Bile acid deficiency is overcome by induction of oxysterol 7alpha-hydroxylase.

27 September 2017

1 reference

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Purification and properties of a 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase from rabbit liver microsomes

27 September 2017

1 reference

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Impact of virus infection on host cell protein synthesis

27 September 2017

1 reference

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Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism

27 September 2017

1 reference

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27 September 2017

Bile acid biosynthesis

1 reference

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Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene.

27 September 2017

1 reference

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Disruption of cholesterol 7alpha-hydroxylase gene in mice. I. Postnatal lethality reversed by bile acid and vitamin supplementation.

30 May 2018

1 reference

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3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology

30 May 2018

1 reference

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Molecular pathogenesis of cholestasis.

30 May 2018

1 reference

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Purification of a 3beta-hydroxy-delta5-C27-steroid dehydrogenase from pig liver microsomes active in major and alternative pathways of bile acid biosynthesis.

29 November 2018

1 reference

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Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment

29 November 2018

1 reference

12 December 2020

Marked reduction in bile acid synthesis in cholesterol 7alpha-hydroxylase-deficient mice does not lead to diminished tissue cholesterol turnover or to hypercholesterolemia

1 reference

12 December 2020

Assignment of steroid 5beta-reductase (SRD5B1) and its pseudogene (SRD5BP1) to human chromosome bands 7q32-->q33 and 1q23-->q25, respectively, by in situ hybridization

1 reference

12 December 2020

The sax1 mutation defines a new locus involved in the brassinosteroid biosynthesis pathway in Arabidopsis thaliana

1 reference

12 December 2020

Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids

1 reference

12 December 2020

3beta-hydroxy-C27-steroid dehydrogenases in mouse liver microsomes

1 reference

12 December 2020