Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts (Q34419184)

2 August 2017

Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts (English)

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Smith-Lemli-Opitz syndrome

2 August 2017

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Christopher A Wassif

1

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2 August 2017

Patrycja A Krakowiak

2

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2 August 2017

Brooke S Wright

3

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2 August 2017

Jennifer S Gewandter

4

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2 August 2017

Allison L Sterner

5

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2 August 2017

Norman Javitt

6

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2 August 2017

Alfred L Yergey

7

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2 August 2017

Forbes D Porter

8

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2 August 2017

language of work or name

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5 February 2005

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Molecular Genetics and Metabolism

2 August 2017

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2 August 2017

85

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2 August 2017

2

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2 August 2017

96-107

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Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

2 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Molecular cloning and expression of the human delta7-sterol reductase

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Inborn errors of sterol biosynthesis

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

The Smith-Lemli-Opitz syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Cholesterol and bile acid synthesis: utilization of D2O for metabolic studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

In vivo measurement of plasma cholesterol and fatty acid synthesis with deuterated water: determination of the average number of deuterium atoms incorporated

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Cholesterol for synthesis of myelin is made locally, not imported into brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Palmitate and Cholesterol Transport Through the Blood-Brain Barrier

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Abnormal bile acids in the Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

New treatment strategy for Smith-Lemli-Opitz syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Simvastatin treatment in the SLO syndrome: a safe approach?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

In vivo and in vitro blood-brain barrier transport of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Effect of atorvastatin, simvastatin, and lovastatin on the metabolism of cholesterol and triacylglycerides in HepG2 cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Cholesterol biosynthesis from lanosterol. A concerted role for Sp1 and NF-Y-binding sites for sterol-mediated regulation of rat 7-dehydrocholesterol reductase gene expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

SREBPs: transcriptional mediators of lipid homeostasis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

Detection of defective 3 beta-hydroxysterol delta 7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.009

10.1016/J.YMGME.2004.12.009

7 January 2021

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DOI

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2 August 2017

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