|
|
|
|
pmid:
|
Gaoua W et al. |
Oxidized derivatives of 7-dehydrocholesterol induce growth retardation in cultured rat embryos: a model for antenatal growth retardation in the Smith-Lemli-Opitz syndrome. |
1999 |
J. Lipid Res. |
pmid:10064734
|
Kratz LE and Kelley RI |
Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. |
1999 |
Am. J. Med. Genet. |
pmid:10069707
|
Andersson HC et al. |
Adrenal insufficiency in Smith-Lemli-Opitz syndrome. |
1999 |
Am. J. Med. Genet. |
pmid:10069708
|
Bick DP et al. |
Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus. |
1999 |
Prenat. Diagn. |
pmid:10073912
|
Fliesler SJ et al. |
Marked alteration of sterol metabolism and composition without compromising retinal development or function. |
1999 |
Invest. Ophthalmol. Vis. Sci. |
pmid:10393050
|
Neklason DW et al. |
Biochemical variants of Smith-Lemli-Opitz syndrome. |
1999 |
Am. J. Med. Genet. |
pmid:10405455
|
Honda A et al. |
Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7alpha-hydroxylase and 27-hydroxylase activities in rat liver. |
1999 |
J. Lipid Res. |
pmid:10428990
|
Anstey AV et al. |
Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome. |
1999 |
Br. J. Dermatol. |
pmid:10583043
|
Rizzo C et al. |
A simple and rapid HPLC method for simultaneous determination of plasma 7-dehydrocholesterol and vitamin E: its application in Smith-Lemli-Opitz patients. |
2000 |
Clin. Chim. Acta |
pmid:10612721
|
Papadimou E et al. |
Modulation of ribonuclease P activity by calcipotriol. |
2000 |
Eur. J. Biochem. |
pmid:10672028
|
Nowaczyk MJ |
Plasma measurement of 7-dehydrocholesterol to detect carriers of Smith-Lemli-Opitz syndrome. |
2000 |
Prenat. Diagn. |
pmid:10694693
|
Linck LM et al. |
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 |
Prenat. Diagn. |
pmid:10719329
|
Gaoua W et al. |
Cholesterol deficit but not accumulation of aberrant sterols is the major cause of the teratogenic activity in the Smith-Lemli-Opitz syndrome animal model. |
2000 |
J. Lipid Res. |
pmid:10744785
|
Obi-Tabot ET et al. |
A human skin equivalent model that mimics the photoproduction of vitamin D3 in human skin. |
2000 |
In Vitro Cell. Dev. Biol. Anim. |
pmid:10777061
|
Roux C et al. |
Role of cholesterol in embryonic development. |
2000 |
Am. J. Clin. Nutr. |
pmid:10799401
|
Wolf C and Chachaty C |
Compared effects of cholesterol and 7-dehydrocholesterol on sphingomyelin-glycerophospholipid bilayers studied by ESR. |
2000 |
Biophys. Chem. |
pmid:10852314
|
Diener AC et al. |
Sterol methyltransferase 1 controls the level of cholesterol in plants. |
2000 |
Plant Cell |
pmid:10852933
|
Chen TC et al. |
An evaluation of the biologic activity and vitamin D receptor binding affinity of the photoisomers of vitamin D3 and previtamin D3. |
2000 |
J. Nutr. Biochem. |
pmid:10876100
|
Jira PE et al. |
Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. |
2000 |
J. Lipid Res. |
pmid:10946022
|
Linck LM et al. |
Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. |
2000 |
Am. J. Med. Genet. |
pmid:10951458
|
Waterham HR and Wanders RJ |
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. |
2000 |
Biochim. Biophys. Acta |
pmid:11111101
|
Lehmann B et al. |
UVB-induced conversion of 7-dehydrocholesterol to 1 alpha,25-dihydroxyvitamin D3 (calcitriol) in the human keratinocyte line HaCaT. |
2000 |
Photochem. Photobiol. |
pmid:11140269
|
Rahier A |
Deuterated delta 7-cholestenol analogues as mechanistic probes for wild-type and mutated delta 7-sterol-C5(6)-desaturase. |
2001 |
Biochemistry |
pmid:11141078
|
Battaile KP et al. |
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. |
2001 |
Mol. Genet. Metab. |
pmid:11161831
|
Gofflot F et al. |
Expression of Sonic Hedgehog downstream genes is modified in rat embryos exposed in utero to a distal inhibitor of cholesterol biosynthesis. |
2001 |
Dev. Dyn. |
pmid:11169843
|
Weber N et al. |
Fatty acid steryl, stanyl, and steroid esters by esterification and transesterification in vacuo using Candida rugosa lipase as catalyst. |
2001 |
J. Agric. Food Chem. |
pmid:11170561
|
Witsch-Baumgartner M et al. |
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. |
2001 |
Eur. J. Hum. Genet. |
pmid:11175299
|
Nowaczyk MJ et al. |
Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome. |
2000 |
Am. J. Med. Genet. |
pmid:11186897
|
Wassif CA et al. |
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. |
2001 |
Hum. Mol. Genet. |
pmid:11230174
|
Witsch-Baumgartner M et al. |
Mutations in the human DHCR7 gene. |
2001 |
Hum. Mutat. |
pmid:11241839
|
Wolf C et al. |
Cholesterol favors phase separation of sphingomyelin. |
2001 |
Biophys. Chem. |
pmid:11254209
|
Björkhem I et al. |
Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. |
2001 |
J. Lipid Res. |
pmid:11254748
|
Kim JH et al. |
Cholesterol biosynthesis from lanosterol. A concerted role for Sp1 and NF-Y-binding sites for sterol-mediated regulation of rat 7-dehydrocholesterol reductase gene expression. |
2001 |
J. Biol. Chem. |
pmid:11279217
|
Serfis AB et al. |
Comparative behavior of sterols in phosphatidylcholine-sterol monolayer films. |
2001 |
Biochim. Biophys. Acta |
pmid:11286977
|
Nowaczyk MJ et al. |
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. |
2001 |
Am. J. Med. Genet. |
pmid:11298379
|
Kwiecinski GG et al. |
Observations on serum 25-hydroxyvitamin D and calcium concentrations from wild-caught and captive neotropical bats, Artibeus jamaicensis. |
2001 |
Gen. Comp. Endocrinol. |
pmid:11316428
|
Einarsson C et al. |
Effects of treatment with deoxycholic acid and chenodeoxycholic acid on the hepatic synthesis of cholesterol and bile acids in healthy subjects. |
2001 |
Hepatology |
pmid:11343248
|
Ruan B et al. |
Sterols in blood of normal and Smith-Lemli-Opitz subjects. |
2001 |
J. Lipid Res. |
pmid:11352988
|
Rivas Crespo F |
[Smith-Lemli-Opitz syndrome]. |
2001 |
An. Esp. Pediatr. |
pmid:11412481
|
Jira PE et al. |
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. |
2001 |
Ann. Hum. Genet. |
pmid:11427181
|
Charbonneau C et al. |
The interactions of amphotericin B with various sterols in relation to its possible use in anticancer therapy. |
2001 |
Biophys. Chem. |
pmid:11429202
|
Xu X et al. |
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, and ceramide. |
2001 |
J. Biol. Chem. |
pmid:11432870
|
Lindenthal B et al. |
Neutral sterols of rat epididymis. High concentrations of dehydrocholesterols in rat caput epididymidis. |
2001 |
J. Lipid Res. |
pmid:11441136
|
Nowaczyk MJ and Waye JS |
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. |
2001 |
Clin. Genet. |
pmid:11453964
|
Tatidis L et al. |
Cholesterol catabolism in patients with acute myelogenous leukemia and hypocholesterolemia: suppressed levels of a circulating marker for bile acid synthesis. |
2001 |
Cancer Lett. |
pmid:11463495
|
Nowaczyk MJ et al. |
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. |
2001 |
Am. J. Med. Genet. |
pmid:11471166
|
Witsch-Baumgartner M et al. |
Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder. |
2001 |
Am. J. Med. Genet. |
pmid:11471183
|
Warren JT et al. |
Woc (without children) gene control of ecdysone biosynthesis in Drosophila melanogaster. |
2001 |
Mol. Cell. Endocrinol. |
pmid:11476936
|
Nowaczyk MJ et al. |
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. |
2001 |
Am. J. Med. Genet. |
pmid:11503168
|
Fitzky BU et al. |
7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. |
2001 |
J. Clin. Invest. |
pmid:11560960
|
Nowaczyk MJ et al. |
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. |
2001 |
Am. J. Med. Genet. |
pmid:11562938
|
Refolo LM et al. |
A cholesterol-lowering drug reduces beta-amyloid pathology in a transgenic mouse model of Alzheimer's disease. |
2001 |
Neurobiol. Dis. |
pmid:11592856
|
Lehmann B et al. |
A novel pathway for hormonally active calcitriol. |
2000 |
Horm. Res. |
pmid:11595824
|
Wang T et al. |
Provitamins and vitamins D₂and D₃in Cladina spp. over a latitudinal gradient: possible correlation with UV levels. |
2001 |
J. Photochem. Photobiol. B, Biol. |
pmid:11693362
|
Kelley RI and Herman GE |
Inborn errors of sterol biosynthesis. |
2001 |
Annu Rev Genomics Hum Genet |
pmid:11701653
|
Lehmann B et al. |
UVB-induced conversion of 7-dehydrocholesterol to 1alpha,25-dihydroxyvitamin D3 in an in vitro human skin equivalent model. |
2001 |
J. Invest. Dermatol. |
pmid:11710930
|
Sugawara T et al. |
Molecular cloning and structural analysis of human sterol C5 desaturase. |
2001 |
Biochim. Biophys. Acta |
pmid:11731337
|
Nowaczyk MJ et al. |
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. |
2001 |
Am. J. Med. Genet. |
pmid:11745994
|
Evans T et al. |
Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome. |
2001 |
Am. J. Med. Genet. |
pmid:11746018
|
Van Cantfort J and Gielen J |
Cholesterol 7alpha-hydroxylase. 2. Biochemical properties and participation of endogenous cholesterol in the assay in vitro. |
1975 |
Eur. J. Biochem. |
pmid:1175606
|
O'Brien WT et al. |
Developmental sensitivity of associative learning to cholesterol synthesis inhibitors. |
2002 |
Behav. Brain Res. |
pmid:11809505
|
Corso G et al. |
Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring. |
2002 |
J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. |
pmid:11824824
|
Prasad C et al. |
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype. |
2002 |
Am. J. Med. Genet. |
pmid:11857552
|
Cortez MA et al. |
Brain sterols in the AY-9944 rat model of atypical absence seizures. |
2002 |
Epilepsia |
pmid:11879380
|
Kitamura S et al. |
Reductive metabolism of an alpha,beta-ketoalkyne, 4-phenyl-3-butyn-2-one, by rat liver preparations. |
2002 |
Drug Metab. Dispos. |
pmid:11901095
|
Lindenthal B et al. |
Influence of simvastatin, pravastatin, and BM 15.766 on neutral sterols in liver and testis of guinea pigs. |
2002 |
Metab. Clin. Exp. |
pmid:11912560
|
Opitz JM et al. |
Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions. |
2002 Mar-Apr |
Pediatr Pathol Mol Med |
pmid:11942534
|
Lee JN et al. |
Structure and alternative splicing of the rat 7-dehydrocholesterol reductase gene. |
2002 |
Biochim. Biophys. Acta |
pmid:12031495
|
Xiong Q et al. |
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome. |
2002 |
Chem. Phys. Lipids |
pmid:12047895
|
Wassif CA et al. |
Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts. |
2002 |
Mol. Genet. Metab. |
pmid:12051964
|
Waye JS et al. |
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. |
2002 |
J. Med. Genet. |
pmid:12070263
|
Rossi M et al. |
Unbalanced translocation (3;5)(q26.1;p14): a clinical report. |
2002 |
Am. J. Med. Genet. |
pmid:12116209
|
Nezarati MM et al. |
Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome. |
2002 |
Am. J. Med. Genet. |
pmid:12116246
|
Hata K et al. |
Stimulative effects of (22E,24R)-ergosta-7,22-diene-3beta,5alpha,6beta-triol from fruiting bodies of Tricholoma auratum, on a mouse osteoblastic cell line, MC3T3-E1. |
2002 |
Biol. Pharm. Bull. |
pmid:12186406
|
Brunetti-Pierri N et al. |
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. |
2002 |
Am. J. Hum. Genet. |
pmid:12189593
|
Trajkovski Z et al. |
Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature. |
2002 |
Am. J. Med. Genet. |
pmid:12210303
|
Kim BS and Kim JS |
Cholesterol induce oligomerization of Vibrio vulnificus cytolysin specifically. |
2002 |
Exp. Mol. Med. |
pmid:12216116
|
Loeffler J et al. |
Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient. |
2002 |
Prenat. Diagn. |
pmid:12224080
|
Shan H and Wilson WK |
Ternary gradient elution markedly improves silver-ion high performance liquid chromatography of unsaturated sterols. |
2002 |
Steroids |
pmid:12234627
|
Patrono C et al. |
Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. |
2002 |
Mol. Cell. Probes |
pmid:12270273
|
Pappu AS et al. |
Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion. |
2002 |
J. Lipid Res. |
pmid:12364550
|
Starck L et al. |
Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith-Lemli-Opitz syndrome. |
2002 |
J. Intern. Med. |
pmid:12366604
|
Starck L et al. |
Simvastatin treatment in the SLO syndrome: a safe approach? |
2002 |
Am. J. Med. Genet. |
pmid:12407710
|
Milunsky JM et al. |
Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. |
2003 |
Am. J. Med. Genet. A |
pmid:12503101
|
Bjorn LO et al. |
Evolution of UV-B regulation and protection in plants. |
2002 |
Adv Space Res |
pmid:12575721
|
Nasir H and Noda H |
Yeast-like symbiotes as a sterol source in anobiid beetles (Coleoptera, Anobiidae): possible metabolic pathways from fungal sterols to 7-dehydrocholesterol. |
2003 |
Arch. Insect Biochem. Physiol. |
pmid:12655605
|
Maurer-Stroh S et al. |
Protein prenyltransferases. |
2003 |
Genome Biol. |
pmid:12702202
|
Lehmann B et al. |
Demonstration of UVB-induced synthesis of 1 alpha,25-dihydroxyvitamin D3 (calcitriol) in human skin by microdialysis. |
2003 |
Arch. Dermatol. Res. |
pmid:12709817
|
Rakheja D et al. |
Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former. |
2003 May-Jun |
Pediatr. Dev. Pathol. |
pmid:12717589
|
Digilio MC et al. |
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia. |
2003 |
Birth Defects Res. Part A Clin. Mol. Teratol. |
pmid:12797454
|
Krakowiak PA et al. |
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. |
2003 |
Hum. Mol. Genet. |
pmid:12812989
|
Goldenberg A et al. |
[Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases]. |
2003 |
Arch Pediatr |
pmid:12818773
|
Salih FM et al. |
Chemical and photolytical transformation of biomedically significant compounds in the presence of deuterated solvents. |
2003 May-Jun |
J. Photochem. Photobiol. B, Biol. |
pmid:12849699
|
Muzzin KB and Harper LF |
Smith-Lemli-Opitz syndrome: a review, case report and dental implications. |
2003 |
Spec Care Dentist |
pmid:12887150
|
Wassif CA et al. |
27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway. |
2003 |
Steroids |
pmid:12906934
|
Zhang D et al. |
Versatile photosensitization system for 1O2-mediated oxidation of alkenes based on nafion-supported platinum(II) terpyridyl acetylide complex. |
2003 |
Org. Lett. |
pmid:12943392
|
Onda M et al. |
Susceptibilities of phospholipid vesicles containing different sterols to amphotericin B-loaded lysophosphatidylcholine micelles. |
2003 |
J. Biochem. |
pmid:12944378
|
Langius FA et al. |
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. |
2003 |
Am. J. Med. Genet. A |
pmid:12949967
|
MOORE T and WARD RJ |
7-Dehydrocholesterol in the sexual organs of the rat. |
1952 |
Biochem. J. |
pmid:13018188
|