|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
The inhibition of this enzymatic step by mutations in the Dhcr7 gene leads to Smith-Lemli-Opitz syndrome, a devastating human condition that can be replicated in rats by small molecule inhibitors of DHCR7.
|
29698737 |
2018 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Fluoxetine and risperidone were also active at 1 μM, and another 10 compounds in this class of pharmaceuticals were identified in the screen at concentrations of 10 μM. Increased levels of 7-DHC are associated with Smith-Lemli-Opitz syndrome (SLOS), a human condition that results from a mutation in the gene that encodes DHCR7.
|
27097157 |
2016 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
In this study, 12 SLOS patients diagnosed clinically and/or by elevated 7-dehydrocholesterol (7-DHC) have been investigated by customized multiplex ligation-dependent probe amplification (MLPA) analysis, because only one DHCR7 sequence variant has been detected.
|
25040602 |
2015 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally.
|
25637936 |
2015 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
|
22226660 |
2012 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement.
|
19365639 |
2010 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
SLOS is caused by the mutations in the gene for 3beta-hydroxysterol Delta(7) reductase (DHCR7; EC 1.3.1.21), which maps to chromosome 11q12-13.
|
17994283 |
2007 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.
|
18006960 |
2007 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
To circumvent this problem, we produced a hypomorphic SLOS mouse model by introducing a mutation corresponding to DHCR7(T93M).
|
16446309 |
2006 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Smith-Lemli-Opitz syndrome (SLOS) is a severe developmental disorder caused by mutations in the DHCR7 gene coding for 7-dehydrocholesterol (7-DHC) reductase, the enzyme involved in the last step of cholesterol biosynthesis.
|
16814115 |
2006 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Knockout mice defective in the 3beta hydroxysterol Delta7 reductase (Dhcr7), a model for the most common of such disorders in humans, the Smith-Lemli-Opitz syndrome, all die within 24 h of birth.
|
15862627 |
2005 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
We report the mutation analysis and determination of residual cholesterol synthesis in 47 SLOS patients, and the effects of treatment of SLOS skin fibroblasts with simvastatin.
|
15896653 |
2005 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
|
15776424 |
2005 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Surveys of SLOS patients have identified more than one hundred point mutations of the DHCR7 gene, most of which are missense mutations.
|
15954111 |
2005 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly.
|
15013448 |
2004 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
|
12949967 |
2003 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Smith-Lemli-Opitz syndrome (SLOS) is attributable to mutations in the gene coding for 7-dehydrocholesterol reductase.
|
12906934 |
2003 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Better understanding of the 7DHCR gene regulation factors and of the compensatory mechanism of foeto-maternal cholesterol transfer are necessary to explain the wide clinical spectrum of the SLO syndrome.
|
12818773 |
2003 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Using a targeting strategy designed to virtually eliminate Dhcr7 activity, we have created a SLOS mouse model that exhibits commissural deficiencies, hippocampal abnormalities, and hypermorphic development of serotonin (5-HT) neurons.
|
14659996 |
2003 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.
|
14556255 |
2003 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
As in human patients, the RSH/SLOS mouse has a marked reduction of serum and tissue cholesterol levels and a marked increase of serum and tissue 7-dehydrocholesterol levels.
|
11230174 |
2001 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome.
|
11560960 |
2001 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We here report mutations identified in the DHCR7 gene of 13 children diagnosed with SLOS by clinical and biochemical criteria.
|
11427181 |
2001 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here we report mutation analysis of the DHCR7 gene in SLOS patients from Poland (n = 15), Germany/Austria (n = 22) and Great Britain (n = 22).
|
11175299 |
2001 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol.
|
11254748 |
2001 |