3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
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Recent insights into the Smith-Lemli-Opitz syndrome.The molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersNanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndromeSterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patientsActivation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome.Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome).Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transferThe ins and outs of cholesterol in the vertebrate retina.Malformation syndromes caused by disorders of cholesterol synthesis.Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.The conserved Rieske oxygenase DAF-36/Neverland is a novel cholesterol-metabolizing enzyme.Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome.Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome.Lipidomic analysis of the retina in a rat model of Smith-Lemli-Opitz syndrome: alterations in docosahexaenoic acid content of phospholipid molecular species.Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency.Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.Lamin B receptor: multi-tasking at the nuclear envelope.The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote.Sterol metabolism disorders and neurodevelopment-an update.Carbon-carbon double-bond reductases in nature.Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome.Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome.A Brief Account of the Discovery of the Fetal/Placental Unit for Estrogen Production in Equine and Human Pregnancies: Relation to Human Medicine.No evidence that genetically reduced 25-hydroxyvitamin D is associated with increased risk of ischaemic heart disease or myocardial infarction: a Mendelian randomization study.A case of Smith-Lemli-Opitz Syndrome, defect of cholesterol biosynthesis.Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome.A comparison of the packing behavior of egg phosphatidylcholine with cholesterol and biogenically related sterols in Langmuir monolayer filmsClinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome.Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.Characterization of large deletions in the DHCR7 gene.Adrenal function in Smith-Lemli-Opitz syndrome.Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients
P2860
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P2860
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
description
2004 nî lūn-bûn
@nan
2004 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
name
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
@ast
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
@en
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
@nl
type
label
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
@ast
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
@en
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
@nl
prefLabel
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
@ast
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
@en
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
@nl
P1476
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
@en
P2093
Forbes D Porter
Lina S Correa-Cerro
P304
P356
10.1016/J.YMGME.2004.09.017
P577
2004-12-19T00:00:00Z