7-Dehydrocholesterol

7-Dehydrocholesterol is a lipid of Sterol Lipids (ST) class. 7-dehydrocholesterol is associated with abnormalities such as Dehydration, Exanthema, RETINITIS PIGMENTOSA 49, Congenital Abnormality and Failure to Thrive. The involved functions are known as 5-(carboxyamino)imidazole ribonucleotide mutase activity, Mutation, Lysis, Anabolism and Biosynthetic Pathways. 7-dehydrocholesterol often locates in Plasma membrane, Body tissue, Tissue membrane, Membrane and outer membrane. The associated genes with 7-Dehydrocholesterol are mutant gene, THEMIS gene, IGKV1D-37 gene, LGALS4 gene and Orthologous Gene. The related lipids are Membrane Lipids, Steroids, Sterols, campesterol and 7-dehydrocholesterol. The related experimental models are Mouse Model, Knock-out and Rodent Model.

Cross Reference

Introduction

To understand associated biological information of 7-Dehydrocholesterol, we collected biological information of abnormalities, associated pathways, cellular/molecular locations, biological functions, related genes/proteins, lipids and common seen animal/experimental models with organized paragraphs from literatures.

What diseases are associated with 7-Dehydrocholesterol?

7-Dehydrocholesterol is suspected in Dehydration, Congenital Abnormality, Exanthema, Vitamin D Deficiency, Retinal Degeneration, Hereditary Diseases and other diseases in descending order of the highest number of associated sentences.

Related references are mostly published in these journals:

Disease Cross reference Weighted score Related literature
Loading... please refresh the page if content is not showing up.

Possible diseases from mapped MeSH terms on references

We collected disease MeSH terms mapped to the references associated with 7-Dehydrocholesterol

MeSH term MeSH ID Detail
Hemolysis D006461 131 associated lipids
Abnormalities, Multiple D000015 13 associated lipids
Intellectual Disability D008607 13 associated lipids
Smith-Lemli-Opitz Syndrome D019082 7 associated lipids
Total 4

PubChem Associated disorders and diseases

What pathways are associated with 7-Dehydrocholesterol

Lipid pathways are not clear in current pathway databases. We organized associated pathways with 7-Dehydrocholesterol through full-text articles, including metabolic pathways or pathways of biological mechanisms.

Related references are published most in these journals:

Pathway name Related literatures
Loading... please refresh the page if content is not showing up.

PubChem Biomolecular Interactions and Pathways

Link to PubChem Biomolecular Interactions and Pathways

What cellular locations are associated with 7-Dehydrocholesterol?

Related references are published most in these journals:

Location Cross reference Weighted score Related literatures
Loading... please refresh the page if content is not showing up.

What functions are associated with 7-Dehydrocholesterol?


Related references are published most in these journals:

Function Cross reference Weighted score Related literatures

What lipids are associated with 7-Dehydrocholesterol?

Related references are published most in these journals:

Lipid concept Cross reference Weighted score Related literatures
Loading... please refresh the page if content is not showing up.

What genes are associated with 7-Dehydrocholesterol?

Related references are published most in these journals:


Gene Cross reference Weighted score Related literatures

What common seen animal models are associated with 7-Dehydrocholesterol?

Mouse Model

Mouse Model are used in the study 'An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome.' (Xu L et al., 2011) and Mouse Model are used in the study 'Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells.' (Xu L et al., 2013).

Knock-out

Knock-out are used in the study 'Immunoglobulin E receptor signaling and asthma.' (Wu LC, 2011) and Knock-out are used in the study 'Novel activities of CYP11A1 and their potential physiological significance.' (Slominski AT et al., 2015).

Rodent Model

Rodent Model are used in the study 'Oxidation of 7-dehydrocholesterol and desmosterol by human cytochrome P450 46A1.' (Goyal S et al., 2014) and Rodent Model are used in the study 'Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome.' (Keller RK et al., 2004).

Related references are published most in these journals:

Model Cross reference Weighted score Related literatures
Loading... please refresh the page if content is not showing up.

NCBI Entrez Crosslinks

All references with 7-Dehydrocholesterol

Download all related citations
Per page 10 20 50 100 | Total 752
Authors Title Published Journal PubMed Link
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