Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome
about
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesisInvestigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic reviewVitamin D MetabolismEvidence that the intra-amoebal Legionella drancourtii acquired a sterol reductase gene from eukaryotes.Genetics and the canadian paediatric surveillance programLight-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome.Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic featuresGenome-wide association study of circulating vitamin D levels.Polymorphisms in vitamin D-related genes and risk of uterine leiomyomata.Cloning and expression of sterol Delta 14-reductase from bovine liver.Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.Polymorphisms in GC and NADSYN1 Genes are associated with vitamin D status and metabolic profile in Non-diabetic adultsPathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.Smith-Lemli-Opitz syndrome and the DHCR7 gene.Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome.The serotonin1A receptor: a representative member of the serotonin receptor family.Gene-by-Diet Interactions Affect Serum 1,25-Dihydroxyvitamin D Levels in Male BXD Recombinant Inbred Mice.Novel activities of CYP11A1 and their potential physiological significance.Cholesterol-mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D SynthesisMembrane organization and function of the serotonin(1A) receptor.Mutational spectrum of Smith-Lemli-Opitz syndrome.Genetic regulation of vitamin D levels.Structural Stringency of Cholesterol for Membrane Protein Function Utilizing Stereoisomers as Novel Tools: A Review.Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome.The human serotonin 1A receptor expressed in neuronal cells: toward a native environment for neuronal receptors.Smith-Lemli-Opitz syndrome.Differential effect of cholesterol and its biosynthetic precursors on membrane dipole potential.Steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Δ8,7-sterol isomerase in cholesterol biosynthesis.Effect of the structure of natural sterols and sphingolipids on the formation of ordered sphingolipid/sterol domains (rafts). Comparison of cholesterol to plant, fungal, and disease-associated sterols and comparison of sphingomyelin, cerebrosides, aSimvastatin treatment in the SLO syndrome: a safe approach?Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome.Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.Expression Profile of Genes Regulating Steroid Biosynthesis and Metabolism in Human Ovarian Granulosa Cells-A Primary Culture Approach.Neurotoxicity and gene-expressed profile in brain-injured mice caused by exposure to titanium dioxide nanoparticles.The regulatory role of miRNAs on VDR in breast cancer.Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.Cholesterol homeostasis in development: the role of Xenopus 7-dehydrocholesterol reductase (Xdhcr7) in neural development.Characterization of large deletions in the DHCR7 gene.Inherited disorders of cholesterol biosynthesis
P2860
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P2860
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome
description
2000 nî lūn-bûn
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2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Biochemical and genetic aspect ...... and Smith-Lemli-Opitz syndrome
@ast
Biochemical and genetic aspect ...... and Smith-Lemli-Opitz syndrome
@en
Biochemical and genetic aspect ...... and Smith-Lemli-Opitz syndrome
@nl
type
label
Biochemical and genetic aspect ...... and Smith-Lemli-Opitz syndrome
@ast
Biochemical and genetic aspect ...... and Smith-Lemli-Opitz syndrome
@en
Biochemical and genetic aspect ...... and Smith-Lemli-Opitz syndrome
@nl
prefLabel
Biochemical and genetic aspect ...... and Smith-Lemli-Opitz syndrome
@ast
Biochemical and genetic aspect ...... and Smith-Lemli-Opitz syndrome
@en
Biochemical and genetic aspect ...... and Smith-Lemli-Opitz syndrome
@nl
P3181
P1476
Biochemical and genetic aspect ...... and Smith-Lemli-Opitz syndrome
@en
P2093
H R Waterham
R J Wanders
P304
P3181
P356
10.1016/S1388-1981(00)00159-1
P407
P577
2000-12-15T00:00:00Z