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DHCR7 encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. De plus, nous expédions DHCR7 Kits (10) et DHCR7 Protéines (4) et beaucoup plus de produits pour cette protéine.
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Results suggest that 7-dehydrocholesterol reductase and Sonic Hedgehog (Montrer SHH Anticorps) are co-expressed during midline development in Xenopus embryos.
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
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
Dhcr7 heterozygous mice made fewer ultrasonic vocalizations. Increases of 7-DHC and expression of the serotonin transporter (Montrer SLC6A4 Anticorps) were observed in the compound mutant mice.
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 (Montrer SHH Anticorps)), and bone morphogenetic protein-2 (Bmp2 (Montrer BMP2 Anticorps)) were measured by RT-PCR and WB after Dhcr7 gene silencing and the addition of exogenous cholesterol.
significant increases in Col1a1 (Montrer COL1A1 Anticorps), serine/threonine-protein kinase 1, Ctnnb1 (Montrer CTNNB1 Anticorps), CSRNP1 (Montrer CSRNP1 Anticorps), Ddit4 (Montrer DDIT4 Anticorps), Cyp2e1 (Montrer CYP2E1 Anticorps), and Krit1 (Montrer KRIT1 Anticorps) expressions and great decreases inreceptor D2, Neu1 (Montrer NEURL Anticorps), and Dhcr7 expressions following long-term exposure to TiO2 NPs (Montrer NPS Anticorps)
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
conclude that cytochrome P450 reductase (Montrer POR Anticorps) is not involved in 7-dehydrocholesterol reductase activity
Data suggest that although cholesterol synthesis is impaired in both Dhcr7 mutant and Sc5d (Montrer SC5DL Anticorps)(-/-) embryonic brain, synthesis of nonsterol isoprenoids may be increased and thus contribute to Smith-Lemli-Opitz syndrome and lathosterolosis pathology.
Immunohistochemical analyses have revealed a 306% increase in the area of 5-HT (Montrer DDC Anticorps) immunoreactivity (5-HT (Montrer DDC Anticorps) IR) in the hindbrains of mutant (Dhcr7-/-) mice as compared to age-matched wild type animals.
Of the 12,000 genes analyzed, 91 were upregulated and 98 were downregulated in the Dhcr7-/- hindbrains when compared to wild-type animals.
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
Data show that in vitro down regulation of NRIF (Montrer ZFP110 Anticorps) expression decreased the mRNA for two main cholesterogenic enzymes, 3-hydroxy-3-methylglutaryl-coenzyme A reductase (Montrer HMGCR Anticorps) and 7-dehydrocholesterol reductase.
phosphorylation modulates DHCR7 activity in cells, and contributes to the overall synthesis of cholesterol, and probably vitamin D
Allelic variations in CYP2R1 (Montrer CYP2R1 Anticorps) and GC affect vitamin D levels, but variant alleles on VDR (Montrer CYP27B1 Anticorps) and DHCR7 were not correlated with vitamin D deficiency.
Genetic variations in ABCG5 (Montrer ABCG5 Anticorps), CYP7A1 (Montrer CYP7A1 Anticorps), and DHCR7 may contribute to differing responses of serum cholesterol to dairy intake among healthy adults.
Review: DHCR7 activity should be considered during drug development and prenatal toxicity assessment.
In this study, we demonstrate that the prevalent c.964-1G>C Dhcr7 mutation perturbs SMO cilia localization and SHH (Montrer SHH Anticorps) pathway activation as a consequence of reduced cholesterol biosynthesis
these findings highlight DHCR7 as an important regulatory switch between cholesterol and vitamin D synthesis.
The aim of this study was to investigate the association of three polymorphisms in the GC gene (rs7041 and rs4588) and CYP2R1 (Montrer CYP2R1 Anticorps) gene (rs10741657) on 25-(OH) VD serum concentration among Jordanians.
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.
Polymorphisms in CYP2R1 (Montrer CYP2R1 Anticorps)-rs10766197 and DHCR7/NADSYN1 (Montrer NADSYN1 Anticorps)-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations
physical and functional interaction between DHCR24 (Montrer DHCR24 Anticorps) and DHCR7
This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS)\; a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.
, sterol Delta(7)-reductase
, 7-dehydrocholesterol reductase
, delta-7-dehydrocholesterol reductase
, putative sterol reductase SR-2
, sterol delta-7-reductase