Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease (Q24564340)

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

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scholarly article

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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 (English)

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1 reference

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R Lathe

6

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author name string

K D Setchell

1

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M Schwarz

2

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N C O'Connell

3

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E G Lund

4

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D L Davis

5

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H R Thompson

7

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R Weslie Tyson

8

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R J Sokol

9

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D W Russell

10

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language of work or name

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publication date

1 November 1998

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Journal of Clinical Investigation

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102

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9

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1690-703

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Cloning of the human cholesterol 7 alpha-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12

1 reference

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24 March 2017

Sterol 27-hydroxylase: expression in human arterial endothelium

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24 March 2017

Clinical and biochemical findings in progressive familial intrahepatic cholestasis

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24 March 2017

Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred

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24 March 2017

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

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24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

24 March 2017

Bile acid metabolism in early life: studies of amniotic fluid

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24 March 2017

Analysis of metabolic profiles of bile acids in urine using a lipophilic anion exchanger and computerized gas-liquid chromatorgaphy-mass spectrometry

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24 March 2017

Bile acid pattern in human amniotic fluid

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24 March 2017

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

1 reference

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27 September 2017

7 alpha-hydroxylation of 27-hydroxycholesterol: biologic role in the regulation of cholesterol synthesis

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27 September 2017

Studies on the relationships between 7 alpha-hydroxylation and the ability of 25- and 27-hydroxycholesterol to suppress the activity of HMG-CoA reductase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

27 September 2017

Performance characteristics of reversed-phase bonded silica cartridges for serum bile acid extraction

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

27 September 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

27 September 2017

A novel cytochrome P450 expressed primarily in brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

27 September 2017

Bile acid synthesis from cholesterol: regulatory and auxiliary pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

27 September 2017

Serum bile acid analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

27 September 2017

Effect of sodium taurolithocholate on bile flow and bile acid exeretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

27 September 2017

A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

27 September 2017

Bile acid synthesis. Metabolism of 3 beta-hydroxy-5-cholenoic acid to chenodeoxycholic acid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

27 September 2017

Treatment of chronic liver disease caused by 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

27 September 2017

Bile acid biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

27 September 2017

Formation of 7 alpha- and 7 beta-hydroxylated bile acid precursors from 27-hydroxycholesterol in human liver microsomes and mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

30 May 2018

24-, 25- and 27-hydroxylation of cholesterol by a purified preparation of 27-hydroxylase from pig liver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

30 May 2018

Evidence for involvement of oxygen free radicals in bile acid toxicity to isolated rat hepatocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

30 May 2018

Structural specificity in the suppression of HMG-CoA reductase in human fibroblasts by intermediates in bile acid biosynthesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

30 May 2018

Monohydroxy bile salt sulfates: tauro-3 beta-hydroxy-5-cholenoate-3-sulfate induces intrahepatic cholestasis in rats.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

30 May 2018

Influence of dietary bile acids on formation of bile acids in rat.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

30 May 2018

Cholic acid synthesis as an index of the severity of liver disease in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

30 May 2018

Sulfation and renal excretion of bile salts in patients with cirrhosis of the liver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

30 May 2018

26-Hydroxycholesterol. Identification and quantitation in human serum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

30 May 2018

On the regulation of bile acid formation in the rat liver.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

28 November 2018

Structure and function of cytochromes P450: a comparative analysis of three crystal structures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

28 November 2018

Determination of the pool size and synthesis rate of bile acids by measurements in blood of patients with liver disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

28 November 2018

A new category of causes of intrahepatic cholestasis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509117

28 November 2018

Bile acid synthesis: 7 alpha-hydroxylation of intermediates in the sterol 27-hydroxylase metabolic pathway

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

7α-Hydroxylation of 26-hydroxycholesterol, 3β-hydroxy-5-cholestenoic acid and 3β-hydroxy-5-cholenoic acid by cytochromeP-450 in pig liver microsomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A modified gas-liquid chromatographic procedure for the rapid determination of bile acids in biological fluids

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesterol 7 alpha-hydroxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimation of 26-hydroxycholesterol in serum by high-performance liquid chromatography and its measurement in patients with atherosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inborn errors of bile acid synthesis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bile acid concentrations in human and rat liver tissue and in hepatocyte nuclei

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bile acid metabolism in patients with cirrhosis. II. Cholic and chenodeoxycholic acid metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of 3 beta-hydroxy-5-cholenoic acid in human meconium

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of 3-sulfated and nonsulfated bile acids by one-step solvolysis and high performance liquid chromatography

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Excretion of 3beta-hydroxy-5-cholenoic and 3a-hydroxy-5a-cholanoic acids in urine of infants with biliary atresia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Occurrence of 3 beta-hydroxy-5-cholestenoic acid, 3 beta,7 alpha-dihydroxy-5-cholestenoic acid, and 7 alpha-hydroxy-3-oxo-4-cholestenoic acid as normal constituents in human blood

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

General methods for the analysis of metabolic profiles of bile acids and related compounds in feces

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

7 alpha-Hydroxylation of 25-hydroxycholesterol and 27-hydroxycholesterol in human fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of 22-, 24- and 26-Hydroxycholesterol in the Steroid Sulphate Fraction of Faeces from Infants

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Potential bile acid precursors in plasma--possible indicators of biosynthetic pathways to cholic and chenodeoxycholic acids in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bile acid synthesis: down-regulation by monohydroxy bile acids

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oral bile acid treatment and the patient with zellweger syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of some hydroxycholesterols in human serum samples

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

C27 Bile Acids in Infants with Coprostanic Acidemia and Occurrence of a 3alpha,7alpha,12alpha-Trihydroxy-5beta-C29 Dicarboxylic Bile Acid as a Major Component in Their Serum

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normal serum gamma-glutamyl-transpeptidase activity identifies groups of infants with idiopathic cholestasis with poor prognosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

7 Alpha-hydroxylation of 27-hydroxycholesterol in rat brain microsomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of cholesterol oxidation products in human plasma by isotope dilution-mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of 3 beta-hydroxy-5-cholenoic acid in serum of hepatobiliary diseases--its glucuronidated and sulfated conjugates

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hydroxycholesterols in serum from hypercholesterolaemic patients with and without bile acid sequestrant therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Concentrations of cholestenoic acids in plasma from patients with liver disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesterol is converted to 7 alpha-hydroxy-3-oxo-4-cholestenoic acid in liver mitochondria. Evidence for a mitochondrial sterol 7 alpha-hydroxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Resolution of liver biopsy alterations in three siblings with bile acid treatment of an inborn error of bile acid metabolism (delta 4-3-oxosteroid 5 beta-reductase deficiency)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bile acid biosynthesis during development: hydroxylation of C27-sterols in human fetal liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesterol and 27-hydroxycholesterol 7 alpha-hydroxylation: evidence for two different enzymes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biliary bile acid composition of the human fetus in early gestation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rapid method for the quantitative extraction of bile acids and their conjugates from serum using commercially available reverse-phase octadecylsilane bonded silica cartridges

1 reference

https://pubmed.ncbi.nlm.nih.gov/9802883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1172/JCI2962

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