EC Number   |
Application |
Reference |
|---|
    1.3.1.21 | diagnostics |
enzyme activity measurement can be a tool for prognosis of the Smith-Lemli-Opitz syndrome |
654193 |
| 1.3.1.21 | diagnostics |
enzyme activity measurement is useful for distinguishing Smith-Lemli-Opitz syndrome from carrier or unaffected cells, diagnosis of atypical cases, overview |
656818 |
| 1.3.1.21 | diagnostics |
enzyme is a key marker of early Leydig cell steroidogenesis, using the technique of differential display RT-PCR |
656789 |
| 1.3.1.21 | medicine |
a 7-dehydrosterol reductase deficiency is known as Smith-Lemli-Opitz syndrome |
690080 |
| 1.3.1.21 | medicine |
although cholesterol synthesis is impaired in both Dhcr7-deficient and lathosterol 5-desaturase-deficient embryonic brain tissues, the synthesis of nonsterol isoprenoids may be increased and thus contribute to Smith-Lemli-Opitz syndrome and lathosterolosis pathology |
713025 |
| 1.3.1.21 | medicine |
construction of an adeno-associated virus vector containing the DHCR7 gene and infusion of this vector into mice deficient for the enzyme leads to identification of the introduced DHCR7 gene in liver, expression of mRNA production of a functional enzyme. Evidence of functionality comes from the ability to partially normalize the serum ratio of 7-dehydrocholesterol/cholesterol in treated animals, apparently by increasing cholesterol production with concomitant decrease in the 7-dehydrocholesterol precursor. By five weeks after treatment the mean ratio for 7 animals has fallen to 0.05 while the ratio for untreated littermate controls has risen to 0.14 |
725815 |
| 1.3.1.21 | medicine |
in a time-pregnant mouse model where wild-type and Dhcr7+/- embryos are maternally exposed to aripiprazole or vehicle, aripiprazole and its metabolites are transported across the placenta and reach the brain of offspring. Maternal aripiprazole exposure leads to decreased viability of embryos and increased 7-DHC levels, regardless of maternal or offspring Dhcr7 genotype. Dhcr7+/- pups are more vulnerable to maternal aripiprazole exposure than their wild-type littermates, and maternal Dhcr7+/- genotype also exacerbates offspring response to aripiprazole treatment. Both 7-DHC levels and 7-DHC/cholesterol ratio is the highest in Dhcr7+/- pups from Dhcr7+/- mothers exposed to aripiprazole |
763478 |
| 1.3.1.21 | medicine |
interaction with endothelial cells for 48 h down-regulates expression of genes in vascular smooth muscle cells controlling rate-limiting steps of the cholesterol biosynthesis such as HMG-CoA reductase, HMG-CoA-synthase-1, 24-dehydrocholesterol reductase and DHCR7. A decrease in the abundance of 24-dehydrocholesterol reductase and lower cholesterol levels in vascular smooth muscle cells cocultured with endothelial cells is observed |
763004 |
| 1.3.1.21 | medicine |
mutation apoB38.9 in apolipoprotein B results in a hypobetalipoproteinemia-like phenotype and leads to downregulation of enzyme and several other cholesterogenic enzymes |
671238 |
| 1.3.1.21 | medicine |
mutational analysis of the DHCR7 gene in individuals from five families with Smith-Lemli-Opitz syndrome. No single mutation is responsible for the photosensitivity which characterizes Smith-Lemli-Opitz syndrome |
672825 |
