Cholesterol

7-dehydrocholesterol reductase ; Homo sapiens







94 Article(s)
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Pub. Year
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51 23920082 An efficient synthesis of 4α- and 4β-hydroxy- 7-dehydrocholesterol, biomarkers for patients with and animal models of the Smith-Lemli-Opitz syndrome. 2013 Oct-Nov 1
52 24296449 Smith-Lemli-Opitz syndrome - clinical consequences for dental care. 2013 Jul-Sep 1
53 22391996 No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. 2012 Sep 1
54 22882119 A new class of selective and potent 7-dehydrocholesterol reductase inhibitors. 2012 Sep 13 3
55 22917620 Cholesterol epoxide hydrolase and cancer. 2012 Dec 1
56 23042628 Mutational spectrum of Smith-Lemli-Opitz syndrome. 2012 Nov 15 1
57 23293579 Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. 2012 Nov 1
58 20952551 Inhibition of human sterol Δ7-reductase and other postlanosterol enzymes by LK-980, a novel inhibitor of cholesterol synthesis. 2011 Jan 3
59 21724437 Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome. 2011 Nov 1
60 20014133 Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. 2010 Jan 3
61 20067919 Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. 2010 Apr 1 1
62 20635399 Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. 2010 Aug 2
63 19390132 Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. 2009 Mar 1
64 19856245 [Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options]. 2009 Oct 1
65 18285838 Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. 2008 May 1
66 19886368 Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report. 2008 Dec 1
67 17441222 Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. 2007 Jul 1
68 17650909 [The Smith-Lemli-Opitz syndrome--case report, early diagnosis]. 2007 Mar 1
69 17994283 Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. 2007 Nov 2
70 16687448 Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase. 2006 Jun 3
71 16814115 Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol. 2006 Jul 15 2
72 15670717 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. 2005 Feb 3
73 15896653 Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. 2005 Jun 2
74 15954111 Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). 2005 Jul 1
75 15979035 Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. 2005 Jul 1
76 16181459 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. 2005 Oct 1
77 16207203 Recent insights into the Smith-Lemli-Opitz syndrome. 2005 Nov 1
78 15013448 A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly. 2004 Feb 27 1
79 15286151 Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. 2004 Aug 2
80 15464432 Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. 2004 Sep-Oct 1
81 15514417 Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. 2004 Nov 1
82 12914579 Smith-Lemli-Opitz syndrome and the DHCR7 gene. 2003 May 2
83 12949967 Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. 2003 Sep 15 3
84 14556255 Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. 2003 Nov 15 1
85 11175299 Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. 2001 Jan 1
86 11427181 Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. 2001 May 4
87 11453964 The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. 2001 Jun 2
88 10677299 Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 2000 Feb 3
89 10719329 Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi. 2000 Mar 2
90 10946022 Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. 2000 Aug 1
91 10951458 Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. 2000 Aug 28 1
92 11001806 Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. 2000 Sep-Oct 3
93 9683613 Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. 1998 Aug 1
94 7482633 Enzyme inhibition during the conversion of squalene to cholesterol. 1995 Jul 1