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 |
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.
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.
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.
Disease | Cross reference | Weighted score | Related literature |
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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 |
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.
Pathway name | Related literatures |
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Associated locations are in red color. Not associated locations are in black.
Location | Cross reference | Weighted score | Related literatures |
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Function | Cross reference | Weighted score | Related literatures |
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Lipid concept | Cross reference | Weighted score | Related literatures |
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Gene | Cross reference | Weighted score | Related literatures |
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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 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 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).
Model | Cross reference | Weighted score | Related literatures |
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Authors | Title | Published | Journal | PubMed Link |
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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 |