7-Dehydrocholesterol Reductase (DHCR7) ELISA Kits

Xenopus laevis 7-Dehydrocholesterol Reductase (DHCR7) interaction partners

1. Results suggest that 7-dehydrocholesterol reductase and Sonic Hedgehog are co-expressed during midline development in Xenopus embryos.

2. Data from Xdhcr7 overexpression and knockdown experiments reveals that a tight control of cholesterol synthesis is particularly important for proper development of the central and peripheral nervous system

Arabidopsis thaliana 7-Dehydrocholesterol Reductase (DHCR7) interaction partners

1. both Delta(5,7)-sterol-Delta(7)-reductase and Delta(24)-sterol-Delta(24)-reductase are in addition localized to the plasma membrane, whereas Delta(7)-sterol-C(5)-desaturase was clearly detected in lipid particles

Mouse (Murine) 7-Dehydrocholesterol Reductase (DHCR7) interaction partners

1. Dhcr7 heterozygous mice made fewer ultrasonic vocalizations. Increases of 7-DHC and expression of the serotonin transporter were observed in the compound mutant mice.

2. Studied the effect of 7-dehydrocholesterol reductase (Dhcr7) and identified signal pathways involved in regulation of embryonic palatogenesis. Expression changes of Dhcr7, Sonic Hedgehog (Shh), and bone morphogenetic protein-2 (Bmp2) were measured by RT-PCR and WB after Dhcr7 gene silencing and the addition of exogenous cholesterol.

3. significant increases in Col1a1, serine/threonine-protein kinase 1, Ctnnb1, CSRNP1, Ddit4, Cyp2e1, and Krit1 expressions and great decreases inreceptor D2, Neu1, and Dhcr7 expressions following long-term exposure to TiO2 NPs

4. data indicate an underlying dysfunction of the 5-HT2A receptors in Dhcr7-HET mice that warrants further investigation to establish how this may relate to behavioral disturbances in human patients carrying Dhcr7 mutations

5. conclude that cytochrome P450 reductase is not involved in 7-dehydrocholesterol reductase activity

6. Data suggest that although cholesterol synthesis is impaired in both Dhcr7 mutant and Sc5d(-/-) embryonic brain, synthesis of nonsterol isoprenoids may be increased and thus contribute to Smith-Lemli-Opitz syndrome and lathosterolosis pathology.

7. Immunohistochemical analyses have revealed a 306% increase in the area of 5-HT immunoreactivity (5-HT IR) in the hindbrains of mutant (Dhcr7-/-) mice as compared to age-matched wild type animals.

8. Of the 12,000 genes analyzed, 91 were upregulated and 98 were downregulated in the Dhcr7-/- hindbrains when compared to wild-type animals.

9. CNS defects caused by Dhcr7 null likely play a major role in the lethal pathogenesis of Dhcr7-/- mice, with the peripheral organs contributing the morbidity

10. A viable mouse model for Smith-Lemli-Opitz syndrome has recently been developed, and cholesterol metabolism in this model with emphasis on changes during the first few weeks of postnatal development, is characterized.

11. Data show that in vitro down regulation of NRIF expression decreased the mRNA for two main cholesterogenic enzymes, 3-hydroxy-3-methylglutaryl-coenzyme A reductase and 7-dehydrocholesterol reductase.

12. down-regulation of Dhcr7 altered expression of multiple molecules that play critical roles in intracellular signaling or vesicular transport or are inserted into membrane rafts, and down-regulated several critical genes involved in lipid biosynthesis

13. Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome

Human 7-Dehydrocholesterol Reductase (DHCR7) interaction partners

1. The study detected Smith-Lemli-Opitz syndrome (SLOS) mutations in only 0.7% of stillbirths. This does not support a strong association between unrecognized DHCR7 mutations and stillbirth.

2. A genetic risk score (GRS) was calculated based on 3 genetic variants [i.e., 7-dehydrocholesterol reductase (DHCR7) rs12785878, cytochrome P450 2R1 (CYP2R1) rs10741657 and group-specific component globulin (GC) rs2282679] related to circulating vitamin D levels. We found a significant interaction between dietary fat intake and vitamin D GRS on 2-y changes in whole-body bone mineral density.

3. DHCR7 mutations for 2 female fetuses with Smith-Lemli- Opitz syndrome and metatarsal bony syndactyly were analyzed.

4. DHCR7 polymorphism is associated with rheumatoid arthritis.

5. SNPs rs6720173 (ABCG5), rs3808607 (CYP7A1), and rs760241 (DHCR7) may work in conjunction with each other to amplify individual genotyping impacts on serum cholesterol responses to dairy consumption.

6. aim of this study was to determine the association between single nucleotide polymorphisms (SNPs) of PNPLA3 (rs738409), COX-2 (rs689465) and DHCR7 (rs12785878) and advanced liver fibrosis in Thai patients

7. pathogenic mutations in DHCR7 protein are located either within the transmembrane region or are near the ligand-binding site, and are highly conserved among species.

8. The DHCR7 polymorphism may be a pre-treatment predictive marker for response to PEG-IFN-based therapy in chronic HCV genotype 1 infection.

9. phosphorylation modulates DHCR7 activity in cells, and contributes to the overall synthesis of cholesterol, and probably vitamin D

10. Allelic variations in CYP2R1 and GC affect vitamin D levels, but variant alleles on VDR and DHCR7 were not correlated with vitamin D deficiency.

11. Genetic variations in ABCG5, CYP7A1, and DHCR7 may contribute to differing responses of serum cholesterol to dairy intake among healthy adults.

12. Review: DHCR7 activity should be considered during drug development and prenatal toxicity assessment.

13. In this study, we demonstrate that the prevalent c.964-1G>C Dhcr7 mutation perturbs SMO cilia localization and SHH pathway activation as a consequence of reduced cholesterol biosynthesis

14. these findings highlight DHCR7 as an important regulatory switch between cholesterol and vitamin D synthesis.

15. The aim of this study was to investigate the association of three polymorphisms in the GC gene (rs7041 and rs4588) and CYP2R1 gene (rs10741657) on 25-(OH) VD serum concentration among Jordanians.

16. This study shows that Smith-Lemli-Opitz Syndrome patients who are heterozygous/homozygous for one pathogenic mutation and only one parent carrying that mutation are candidates for DHCR7 gene (partial) deletions.

17. Polymorphisms in CYP2R1-rs10766197 and DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations

18. physical and functional interaction between DHCR24 and DHCR7

19. In this mendelian randomisation study, we generated an allele score (25[OH]D synthesis score) based on variants of genes that affect 25(OH)D synthesis or substrate availability (CYP2R1 and DHCR7)

20. rs3829251 (DHCR7) influenced progression of subclinical atherosclerosis in a manner dependent on type 2 diabetes status but independent of 25(OH)D levels. The SNP modulates DHCR7 mRNA levels in aortic adventitia.