(Q26765783)

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Karin Tuschl

6

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1 June 2020

Brian Bigger

8

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1 June 2020

Akira Honda

10

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1 June 2020

Ingemar Björkhem

13

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Yuqin Wang

15

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1 June 2020

author name string

Jonas Abdel-Khalik

2

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1 June 2020

Peter J Crick

3

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1 June 2020

Michael Ogundare

4

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1 June 2020

Cedric H Shackleton

5

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1 June 2020

Mei Kwun Kwok

7

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Andrew A Morris

9

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Libin Xu

11

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Ned A Porter

12

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Peter T Clayton

14

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The Journal of Steroid Biochemistry and Molecular Biology

1 June 2020

publication date

11 March 2016

0 references

published in

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volume

169

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page(s)

77-87

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Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome

1 June 2020

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1 reference

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28 September 2017

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28 September 2017

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Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells

28 September 2017

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Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients

28 September 2017

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27-Hydroxycholesterol, does it exist? On the nomenclature and stereochemistry of 26-hydroxylated sterols

28 September 2017

1 reference

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Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome

28 September 2017

1 reference

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Conversion of 7-dehydrocholesterol to 7-ketocholesterol is catalyzed by human cytochrome P450 7A1 and occurs by direct oxidation without an epoxide intermediate

28 September 2017

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A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

28 September 2017

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Malformation syndromes caused by disorders of cholesterol synthesis

28 September 2017

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Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome

28 September 2017

1 reference

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Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome

28 September 2017

1 reference

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Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: product and mechanistic studies.

28 September 2017

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Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome.

28 September 2017

1 reference

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3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome

28 September 2017

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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

28 September 2017

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Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol.

28 September 2017

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Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome

28 September 2017

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28 September 2017

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Oxysterols: modulators of cholesterol metabolism and other processes

28 September 2017

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28 September 2017

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28 September 2017

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Abnormal bile acids in the Smith-Lemli-Opitz syndrome

31 May 2018

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31 May 2018

1 reference

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Analytical strategies for characterization of oxysterol lipidomes: liver X receptor ligands in plasma.

28 November 2018

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Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

28 November 2018

1 reference

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Human and rodent type 1 11beta-hydroxysteroid dehydrogenases are 7beta-hydroxycholesterol dehydrogenases involved in oxysterol metabolism

28 November 2018

1 reference

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27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway.

28 November 2018

1 reference

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Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome).

28 November 2018

1 reference

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A rapid screening procedure for cholesterol and dehydrocholesterol by electrospray ionization tandem mass spectrometry

28 November 2018

1 reference

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Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5018427

Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome

28 November 2018

1 reference

12 December 2020

Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7alpha-hydroxylase and 27-hydroxylase activities in rat liver

1 reference

12 December 2020

7-Dehydrocholesterol metabolites produced by sterol 27-hydroxylase (CYP27A1) modulate liver X receptor activity

1 reference

12 December 2020

In vivo interconversion of 7β-hydroxycholesterol and 7-ketocholesterol, potential surrogate markers for oxidative stress

1 reference

12 December 2020

10.1016/J.JSBMB.2016.03.018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26976653%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

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1 June 2020

PubMed publication ID

26976653

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26976653%20AND%20SRC:MED&resulttype=core&format=json