|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
One case (0.7%) was a compound heterozygote for mutations in exons 3 to 9 of DHCR7; this fetus had no clinical or histologic features of SLOS.
|
29433144 |
2018 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This paper describes the application of a specific LC-MS/MS method for the direct identification of disulfates in urine, and their use as markers for the prenatal diagnosis of disorders causing reduced estriol production: STSD (steroid sulfatase deficiency), SLOS (Smith-Lemli-Opitz syndrome) and PORD (P450 oxidoreductase deficiency).
|
29459491 |
2018 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Smith-Lemli-Opitz Syndrome (SLOS) is a recessive human disease caused by defective cholesterol (CHOL) synthesis at the level of DHCR7 (7-dehydrocholesterol reductase), which normally catalyzes the conversion of 7-dehydrocholesterol (7DHC) to CHOL.
|
29352199 |
2018 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive human disease caused by mutations in the gene encoding 7-dehydrocholesterol (7DHC) reductase (DHCR7), resulting in abnormal accumulation of 7DHC and reduced levels of cholesterol in bodily tissues and fluids.
|
30360379 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.
|
29300326 |
2018 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
GeneticVariation
|
disease |
BEFREE |
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that result in reduced cholesterol biosynthesis.
|
29455191 |
2018 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Largely, DHCR7 research is associated with the developmental disease Smith-Lemli-Opitz syndrome, which is caused by mutations in the DHCR7 gene.
|
27520299 |
2017 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
|
27513191 |
2017 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Simvastatin, a 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitor that crosses the blood-brain barrier, has been proposed for the treatment of SLOS based on in vitro and in vivo studies suggesting that simvastatin increases the expression of hypomorphic DHCR7 alleles.
|
27513191 |
2017 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.
|
28503313 |
2017 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.
|
28503313 |
2017 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In Dhcr7-deficient Neuro2a cells or fibroblasts from SLOS patients, the biosynthetic transformation was interrupted at the penultimate step and alkynyl-7-DHC (a-7-DHC) was the major product formed.
|
28258022 |
2017 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.
|
28166604 |
2017 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Normal IQ is possible in Smith-Lemli-Opitz syndrome.
|
28349652 |
2017 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Smith-Lemli-Opitz syndrome is a recessive disorder caused by mutations in 7-dehydrocholesterol reductase (DHCR)7 with a heterozygous (HET) carrier frequency of 1-3%.
|
28972118 |
2017 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Smith-Lemli-Opitz syndrome is an inherited monogenic disorder in which mutations to the 7-dehydrocholesterol (7-DHC) reductase (Dhcr7) gene lead to deficits in cholesterol synthesis.
|
28220990 |
2017 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome caused by mutations in the 7-dehydrocholesterol reductase gene.
|
28796426 |
2017 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (Δ<sup>7</sup>-sterol reductase, DHCR7, EC 1.3.1.21) leading to a build-up of the cholesterol precursor 7-dehydrocholesterol (7-DHC) in tissues and blood plasma.
|
26976653 |
2017 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal-recessive disorder that results from mutations in the gene encoding the cholesterol biosynthetic enzyme 7-dehydrocholesterol reductase (DHCR7).
|
26685159 |
2016 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
|
27401223 |
2016 |
|
Smith-Lemli-Opitz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
|
26969503 |
2016 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Homozygous or compound heterozygous mutations in DHCR7 lead to the developmental disease Smith-Lemli-Opitz syndrome, which can also result in fetal mortality, highlighting the importance of this enzyme in human development and survival.
|
27697512 |
2016 |