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.

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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
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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
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PubChem Biomolecular Interactions and Pathways

Link to PubChem Biomolecular Interactions and Pathways

What cellular locations are associated with 7-Dehydrocholesterol?

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Location Cross reference Weighted score Related literatures
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What functions are associated with 7-Dehydrocholesterol?


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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
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What genes are associated with 7-Dehydrocholesterol?

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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
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NCBI Entrez Crosslinks

All references with 7-Dehydrocholesterol

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Authors Title Published Journal PubMed Link
WELLS WW et al. Intestinal sterols. I. Delta7-cholestenol and 7-dehydrocholesterol in feces. 1955 Arch. Biochem. Biophys. pmid:13259659
Lu ZR et al. [Preparation of milligram quantity of vitamin D3 isomers by a two-step high performance liquid chromatographic method]. 1992 Yao Xue Xue Bao pmid:1332420
GLOVER J and STAINER DW Sterol metabolism. 4. The absorption of 7-dehydrocholesterol in the rat. 1959 Biochem. J. pmid:13651139
MERCER EI and GLOVER J Sterol metabolism. 6. The interconversion of cholesterol, 7-dehydrocholesterol and lathosterol in the rat. 1961 Biochem. J. pmid:13769547
JEFFERSON WE and SISCO G The influence of exogenous steroids on the growth of Aspergillus niger and Torula ***lis. 1961 J. Gen. Physiol. pmid:13789749
KANDUTSCH AA Enzymatic reduction of the delta7 bond of 7-dehydrocholesterol. 1962 J. Biol. Chem. pmid:14453564
Scalco FB et al. Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry. 2003 Braz. J. Med. Biol. Res. pmid:14502364
Barsh GS What controls variation in human skin color? 2003 PLoS Biol. pmid:14551921
Mueller C et al. Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. 2003 Am. J. Med. Genet. A pmid:14556255
Keller RK et al. Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome. 2004 J. Lipid Res. pmid:14594996
Caruso PA et al. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. 2004 Neuroradiology pmid:14605787
Bitsch F et al. Identification of natural ligands of retinoic acid receptor-related orphan receptor alpha ligand-binding domain expressed in Sf9 cells--a mass spectrometry approach. 2003 Anal. Biochem. pmid:14622968
Pikuleva I and Javitt NB Novel sterols synthesized via the CYP27A1 metabolic pathway. 2003 Arch. Biochem. Biophys. pmid:14622972
Guryev O et al. A pathway for the metabolism of vitamin D3: unique hydroxylated metabolites formed during catalysis with cytochrome P450scc (CYP11A1). 2003 Proc. Natl. Acad. Sci. U.S.A. pmid:14657394
Waage-Baudet H et al. Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. 2003 Int. J. Dev. Neurosci. pmid:14659996
Marcos J et al. The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production. 2004 Steroids pmid:14715377
Goldenberg A et al. Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases. 2004 Am. J. Med. Genet. A pmid:14735596
Salih FM Effect of clothing varieties on solar photosynthesis of previtamin D3: an in vitro study. 2004 Photodermatol Photoimmunol Photomed pmid:14738534
Klein GL et al. Synthesis of vitamin D in skin after burns. 2004 Lancet pmid:14751703
Rudolph PH et al. Formation of ecdysteroids by Y-organs of the crab, Menippe mercenaria. I. Biosynthesis of 7-dehydrocholesterol in vivo. 1992 Gen. Comp. Endocrinol. pmid:1478439
Rudolph PH and Spaziani E Formation of ecdysteroids by Y-organs of the crab, Menippe mercenaria. II. Incorporation of cholesterol into 7-dehydrocholesterol and secretion products in vitro. 1992 Gen. Comp. Endocrinol. pmid:1478440
GREEN J Studies on the analysis of vitamins D. 4. Studies on the irradiation of ergosterol and 7-dehydrocholesterol and the analysis of the products for calciferol, vitamin D3, and component sterols. 1951 Biochem. J. pmid:14858317
GLOVER M et al. Provitamin D3 in tissues and the conversion of cholesterol to 7-dehydrocholesterol in vivo. 1952 Biochem. J. pmid:14944524
Nowaczyk MJ et al. Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. 2004 Am. J. Med. Genet. A pmid:14981719
Yu H et al. Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. 2004 BMC Dev. Biol. pmid:15005800
Shim YH et al. A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly. 2004 Biochem. Biophys. Res. Commun. pmid:15013448
Lalovic A et al. Investigation of completed suicide and genes involved in cholesterol metabolism. 2004 J Affect Disord pmid:15023477
Micelli S et al. Effect of sterols on beta-amyloid peptide (AbetaP 1-40) channel formation and their properties in planar lipid membranes. 2004 Biophys. J. pmid:15041662
Lehmann B et al. [New relevance of vitamin D3 metabolism in the skin]. 2004 Hautarzt pmid:15069602
Mammone T et al. Normal human epidermal keratinocytes treated with 7-dehydrocholesterol express increased levels of heat shock protein. 2004 Mar-Apr J Cosmet Sci pmid:15131726
Anbalagan M et al. DD-RT-PCR identifies 7-dehydrocholesterol reductase as a key marker of early Leydig cell steroidogenesis. 2004 Mol. Cell. Endocrinol. pmid:15149725
Kedjouar B et al. Molecular characterization of the microsomal tamoxifen binding site. 2004 J. Biol. Chem. pmid:15175332
Lehmann B et al. Role for tumor necrosis factor-alpha in UVB-induced conversion of 7-dehydrocholesterol to 1alpha,25-dihydroxyvitamin D3 in cultured keratinocytes. 2004 J. Steroid Biochem. Mol. Biol. pmid:15225839
Keller RK et al. Enzyme blockade: a nonradioactive method to determine the absolute rate of cholesterol synthesis in the brain. 2004 J. Lipid Res. pmid:15258193
Witsch-Baumgartner M et al. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. 2004 J. Med. Genet. pmid:15286151
Fliesler SJ et al. Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features. 2004 Arch. Ophthalmol. pmid:15302661
Serbanescu I et al. Lovastatin exacerbates atypical absence seizures with only minimal effects on brain sterols. 2004 J. Lipid Res. pmid:15314096
Merris M et al. Long-term effects of sterol depletion in C. elegans: sterol content of synchronized wild-type and mutant populations. 2004 J. Lipid Res. pmid:15314097
Merkens LS et al. Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. 2004 Pediatr. Res. pmid:15319461
Rota C et al. Dietary alpha-tocopherol affects differential gene expression in rat testes. 2004 IUBMB Life pmid:15370891
Matyash V et al. Sterol-derived hormone(s) controls entry into diapause in Caenorhabditis elegans by consecutive activation of DAF-12 and DAF-16. 2004 PLoS Biol. pmid:15383841
Ginat S et al. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. 2004 Sep-Oct Mol. Genet. Metab. pmid:15464432
Lehmann B et al. Vitamin D and skin: new aspects for dermatology. 2004 Exp. Dermatol. pmid:15507106
Slominski A et al. A novel pathway for sequential transformation of 7-dehydrocholesterol and expression of the P450scc system in mammalian skin. 2004 Eur. J. Biochem. pmid:15511223
Lalovic A et al. Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. 2004 Am J Psychiatry pmid:15514417
Ciara E et al. DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. 2004 Clin. Genet. pmid:15521979
Rossi M et al. Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. 2005 Am. J. Med. Genet. A pmid:15580635
Correa-Cerro LS and Porter FD 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. 2005 Mol. Genet. Metab. pmid:15670717
Rossi M et al. Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome. 2005 J. Inherit. Metab. Dis. pmid:15702407
Lee EY et al. Cholesterol-producing transgenic Caenorhabditis elegans lives longer due to newly acquired enhanced stress resistance. 2005 Biochem. Biophys. Res. Commun. pmid:15707967
Barella L et al. Alpha-tocopherol affects androgen metabolism in male rat. 2004 Ann. N. Y. Acad. Sci. pmid:15753162
Larriba MJ and Muñoz A SNAIL vs vitamin D receptor expression in colon cancer: therapeutics implications. 2005 Br. J. Cancer pmid:15770204
Witsch-Baumgartner M et al. Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. 2005 Hum. Mutat. pmid:15776424
Monroe DG et al. Estrogen receptor alpha and beta heterodimers exert unique effects on estrogen- and tamoxifen-dependent gene expression in human U2OS osteosarcoma cells. 2005 Mol. Endocrinol. pmid:15802376
Correa-Cerro LS et al. DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. 2005 J. Med. Genet. pmid:15805162
Yu H et al. Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression. 2005 Brain Res. Dev. Brain Res. pmid:15862627
Babovic-Vuksanovic D et al. Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome. 2005 J. Inherit. Metab. Dis. pmid:15877207
Kim JH et al. Methylation of CpG islands in the rat 7-dehydrocholesterol reductase promoter suppresses transcriptional activation. 2005 Mol. Cells pmid:15879714
Wassif CA et al. Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. 2005 Mol. Genet. Metab. pmid:15896653
Berring EE et al. A comparison of the behavior of cholesterol and selected derivatives in mixed sterol-phospholipid Langmuir monolayers: a fluorescence microscopy study. 2005 Chem. Phys. Lipids pmid:15904906
Scalco FB et al. DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. 2005 Am. J. Med. Genet. A pmid:15952211
Waye JS et al. Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). 2005 Hum. Mutat. pmid:15954111
Alkuraya FS et al. Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? 2005 Birth Defects Res. Part A Clin. Mol. Teratol. pmid:15965973
Yan C et al. Cholesterol biosynthesis and the pro-apoptotic effects of the p75 nerve growth factor receptor in PC12 pheochromocytoma cells. 2005 Brain Res. Mol. Brain Res. pmid:15967538
Cardoso ML et al. Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. 2005 Mol. Genet. Metab. pmid:15979035
Matsumoto Y et al. R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. 2005 J. Hum. Genet. pmid:16044199
Shinawi M et al. Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. 2005 Am. J. Med. Genet. A pmid:16097001
Slominski A et al. Enzymatic metabolism of ergosterol by cytochrome p450scc to biologically active 17alpha,24-dihydroxyergosterol. 2005 Chem. Biol. pmid:16125105
Porojnicu AC et al. Season of diagnosis is a prognostic factor in Hodgkin's lymphoma: a possible role of sun-induced vitamin D. 2005 Br. J. Cancer pmid:16136030
Lehmann B The vitamin D3 pathway in human skin and its role for regulation of biological processes. 2005 Nov-Dec Photochem. Photobiol. pmid:16162035
Diehn JJ et al. Differential gene expression in anatomical compartments of the human eye. 2005 Genome Biol. pmid:16168081
Anstey AV et al. 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 Br. J. Dermatol. pmid:16181459
Richards MJ et al. Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome. 2006 Exp. Eye Res. pmid:16199034
Yu H and Patel SB Recent insights into the Smith-Lemli-Opitz syndrome. 2005 Clin. Genet. pmid:16207203
Huang X et al. A Drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis. 2005 Development pmid:16221727
Chevy F et al. Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. 2005 Prenat. Diagn. pmid:16231320
Valenza M et al. Dysfunction of the cholesterol biosynthetic pathway in Huntington's disease. 2005 J. Neurosci. pmid:16251441
Tulenko TN et al. A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. 2006 J. Lipid Res. pmid:16258167
Waage-Baudet H et al. Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome. 2005 Dev. Neurosci. pmid:16280635
Tsugawa N et al. Metabolism of orally administered ergosterol and 7-dehydrocholesterol in rats and lack of evidence for their vitamin D biological activity. 1992 J. Nutr. Sci. Vitaminol. pmid:1629783
Vaughan DK et al. Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. 2006 Exp. Eye Res. pmid:16360150
Vantieghem K et al. UVB-induced production of 1,25-dihydroxyvitamin D3 and vitamin D activity in human keratinocytes pretreated with a sterol delta7-reductase inhibitor. 2006 J. Cell. Biochem. pmid:16365879
Weintrob N et al. Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene. 2006 Pediatrics pmid:16390921
Romano F et al. A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. 2005 Mol. Diagn. pmid:16392899
Haas D et al. Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. 2005 J. Inherit. Metab. Dis. pmid:16435228
Correa-Cerro LS et al. Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. 2006 Hum. Mol. Genet. pmid:16446309
Jezela-Stanek A et al. Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. 2006 Clin. Genet. pmid:16451140
Lin X et al. A targeted apoB38.9 mutation in mice is associated with reduced hepatic cholesterol synthesis and enhanced lipid peroxidation. 2006 Am. J. Physiol. Gastrointest. Liver Physiol. pmid:16455790
Valencia A and Kochevar IE Ultraviolet A induces apoptosis via reactive oxygen species in a model for Smith-Lemli-Opitz syndrome. 2006 Free Radic. Biol. Med. pmid:16458195
Ciara E et al. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. Eur J Med Genet pmid:16497572
Rottiers V et al. Hormonal control of C. elegans dauer formation and life span by a Rieske-like oxygenase. 2006 Dev. Cell pmid:16563875
Vantieghem K et al. UVB-induced 1,25(OH)2D3 production and vitamin D activity in intestinal CaCo-2 cells and in THP-1 macrophages pretreated with a sterol Delta7-reductase inhibitor. 2006 J. Cell. Biochem. pmid:16598763
Kovarova M et al. Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. 2006 J. Exp. Med. pmid:16618793
De Fabo EC Initial studies on an in vivo action spectrum for melanoma induction. 2006 Prog. Biophys. Mol. Biol. pmid:16624384
Patel S and Mishra BK Oxidation of cholesterol by a biomimetic oxidant, cetyltrimethylammonium dichromate. 2006 J. Org. Chem. pmid:16626135
Silva L et al. Nystatin-induced lipid vesicles permeabilization is strongly dependent on sterol structure. 2006 Biochim. Biophys. Acta pmid:16626629
Gondré-Lewis MC et al. Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature. 2006 J. Cell. Sci. pmid:16636072
Tint GS et al. The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols. 2006 J. Lipid Res. pmid:16651660
Weinhofer I et al. Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome. 2006 Biochem. Biophys. Res. Commun. pmid:16678134
Koide T et al. Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase. 2006 Development pmid:16687448