Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts (Q40727065)

23 September 2017

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

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23 September 2017

5

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23 September 2017

Christopher A Wassif

1

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23 September 2017

Donna Vied

2

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23 September 2017

Maria Tsokos

3

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23 September 2017

William E Connor

4

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23 September 2017

Forbes D Porter

6

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23 September 2017

1 April 2002

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Molecular Genetics and Metabolism

23 September 2017

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23 September 2017

75

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23 September 2017

4

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23 September 2017

325-334

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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

23 September 2017

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

The Smith-Lemli-Opitz syndrome

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

A new face for an old syndrome

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Molecular cloning and expression of the human delta7-sterol reductase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Low-density lipoprotein receptor activity in cultured human skin fibroblasts. Mechanism of insulin-induced stimulation

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Clinical phenotype of desmosterolosis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Embryonic lethality and defective neural tube closure in mice lacking squalene synthase.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Agents affecting lipid metabolism. 28. A 7-dehydrocholesterol delta-7-reductase inhibitor (AY-9944) as tool in studies of delta-7-sterol metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Effects of AY 9944 on low density lipoprotein metabolism in cultured human fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Niemann-Pick disease experimental model: sphingomyelinase reduction induced by AY-9944.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

CHILD syndrome with linear eruptions, hypopigmented bands, and verruciform xanthoma

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Progesterone inhibits cholesterol biosynthesis in cultured cells. Accumulation of cholesterol precursors

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Cholesterol movement in Niemann-Pick type C cells and in cells treated with amphiphiles

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Cholesterol modification of hedgehog signaling proteins in animal development

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Dispatched, a novel sterol-sensing domain protein dedicated to the release of cholesterol-modified hedgehog from signaling cells

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Teratogenic Effect of an Inhibitor of Cholesterol Synthesis (AY 9944) in Rats: Correlation with Maternal Cholesterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Teratogen-mediated inhibition of target tissue response to Shh signaling.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

Cyclopamine inhibition of Sonic hedgehog signal transduction is not mediated through effects on cholesterol transport.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900010-0

7 January 2021

10.1016/S1096-7192(02)00010-0

Identifiers

DOI

1 reference

23 September 2017

1 reference