Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. (Q35596001)

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7 November 2019

title

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy (English)

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7 November 2019

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6

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7 November 2019

author name string

H A Lemonde

1

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7 November 2019

E J Custard

2

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7 November 2019

J Bouquet

3

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7 November 2019

M Duran

4

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7 November 2019

H Overmars

5

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7 November 2019

P T Clayton

7

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7 November 2019

language of work or name

English

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publication date

1 October 2003

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7 November 2019

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7 November 2019

volume

52

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7 November 2019

page(s)

1494-1499

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7 November 2019

issue

10

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Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

7 November 2019

cites work

1 reference

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Nuclear receptors and the control of metabolism

12 July 2018

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Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein

12 July 2018

1 reference

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Asynchronous expression and colocalization of Bsep and Mrp2 during development of rat liver

12 July 2018

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BAREing it all: the adoption of LXR and FXR and their roles in lipid homeostasis

12 July 2018

1 reference

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Clinical consequences of defects in peroxisomal beta-oxidation.

12 July 2018

1 reference

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Genomic organization of a human 5beta-reductase and its pseudogene and substrate selectivity of the expressed enzyme.

12 July 2018

1 reference

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

12 July 2018

1 reference

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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

12 July 2018

1 reference

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Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency

12 July 2018

1 reference

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Comparative anatomy of the aldo-keto reductase superfamily

12 July 2018

1 reference

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Control of messenger RNA stability in higher eukaryotes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773813

Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773813

Identification of the 37-kd rat liver protein that forms an acetaldehyde adduct in vivo as delta 4-3-ketosteroid 5 beta-reductase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773813

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773813

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

12 July 2018

1 reference

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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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773813

Hepatic bile acid metabolism during early development revealed from the analysis of human fetal gallbladder bile

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773813

Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773813

Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

12 July 2018

1 reference

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Guggulsterone is a farnesoid X receptor antagonist in coactivator association assays but acts to enhance transcription of bile salt export pump

12 July 2018

1 reference

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Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy

26 September 2018

1 reference

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Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency.

26 September 2018

1 reference

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Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis

26 September 2018

1 reference

12 December 2020

Gene analysis in delta 4-3-oxosteroid 5 beta-reductase deficiency

1 reference

12 December 2020

Differential interaction of bile acids from patients with inborn errors of bile acid synthesis with hepatocellular bile acid transporters

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12 December 2020

A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionization-mass spectrometry

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12 December 2020

Increased urinary excretion of 3-oxo-delta4 bile acids in Japanese patients with idiopathic neonatal cholestasis

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12 December 2020

Abnormally low ratio of cholic acid to chenodeoxycholic acid due to a deficiency of 3-oxo-delta4-steroid 5beta-reductase

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12 December 2020

Conversion of cholesterol to bile acids in rat: purification and properties of a delta-4-3-ketosteroid 5-beta-reductase and a 3-alpha-hydroxysteroid dehydrogenase

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12 December 2020

Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography-mass spectrometry

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12 December 2020

3-Oxo-delta 4 bile acids in liver disease

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12 December 2020

Abnormal low ratio of cholic acid to chenodeoxycholic acid in a cholestatic infant with severe hypoglycemia

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12 December 2020

Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols: a new inborn error of bile acid synthesis?

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12 December 2020

Identifiers

DOI

10.1136/GUT.52.10.1494

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12970144%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12970144%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference

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