| MeSH term | MeSH ID | Detail |
|---|---|---|
| Chondrodysplasia Punctata | D002806 | 8 associated lipids |
| Smith-Lemli-Opitz Syndrome | D019082 | 7 associated lipids |
Total
2
8-Dehydrocholesterol
8-dehydrocholesterol is a lipid of Sterol Lipids (ST) class. 8-dehydrocholesterol is associated with abnormalities such as Congenital Abnormality, Syndrome, Horizontal dissociated gaze palsy and Spontaneous abortion. The involved functions are known as Hypoplasia and Recurrence. 8-dehydrocholesterol often locates in Body tissue, Ulnar, fetal blood and Liver tissue. The associated genes with 8-Dehydrocholesterol are DHCR7 gene. The related lipids are Dehydrocholesterols, 7-dehydrocholesterol, Sterols and 7-dehydrodesmosterol.
Cross Reference
Introduction
To understand associated biological information of 8-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 8-Dehydrocholesterol?
8-Dehydrocholesterol is suspected in Congenital Abnormality, Horizontal dissociated gaze palsy, Spontaneous abortion 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 8-Dehydrocholesterol
PubChem Associated disorders and diseases
What pathways are associated with 8-Dehydrocholesterol
There are no associated biomedical information in the current reference collection.
PubChem Biomolecular Interactions and Pathways
Link to PubChem Biomolecular Interactions and PathwaysWhat cellular locations are associated with 8-Dehydrocholesterol?
Visualization in cellular structure
Associated locations are in red color. Not associated locations are in black.
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 8-Dehydrocholesterol?
Related references are published most in these journals:
| Function | Cross reference | Weighted score | Related literatures |
|---|
What lipids are associated with 8-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 8-Dehydrocholesterol?
Related references are published most in these journals:
| Gene | Cross reference | Weighted score | Related literatures |
|---|
What common seen animal models are associated with 8-Dehydrocholesterol?
There are no associated biomedical information in the current reference collection.
NCBI Entrez Crosslinks
All references with 8-Dehydrocholesterol
Download all related citations| Authors | Title | Published | Journal | PubMed Link |
|---|---|---|---|---|
| Griffiths WJ et al. | Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. | 2017 | J. Steroid Biochem. Mol. Biol. | pmid:26976653 |
| Becker S et al. | LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism. | 2015 | Anal Bioanal Chem | pmid:25963649 |
| Cañueto J et al. | The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome. | 2014 | Biochim. Biophys. Acta | pmid:24036494 |
| Cañueto J et al. | Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. | 2012 | Br. J. Dermatol. | pmid:22121851 |
| Svoboda MD et al. | Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. | 2012 | Am J Med Genet C Semin Med Genet | pmid:23042642 |
| Quélin C et al. | Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. | 2012 | Eur J Med Genet | pmid:22226660 |
| Stottmann RW et al. | Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo. | 2011 | PLoS Genet. | pmid:21912524 |
| Sauer SW et al. | Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease. | 2011 | Biochim. Biophys. Acta | pmid:21920437 |
| Elias PM et al. | Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders. | 2011 | Dermatoendocrinol | pmid:21695019 |
| Lin DS et al. | The effects of sterol structure upon sterol esterification. | 2010 | Atherosclerosis | pmid:19679306 |
| Matabosch X et al. | Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome. | 2009 | J. Steroid Biochem. Mol. Biol. | pmid:19406241 |
| Rakheja D and Boriack RL | Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata. | 2008 Mar-Apr | Pediatr. Dev. Pathol. | pmid:17378665 |
| Jezela-Stanek A et al. | Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature. | 2008 Mar-Apr | Eur J Med Genet | pmid:18249054 |
| Umekoji A et al. | High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation. | 2008 | J. Dermatol. Sci. | pmid:18387283 |
| Kolb-Mäurer A et al. | Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis. | 2008 | Acta Derm. Venereol. | pmid:18176751 |
| de Sain-van der Velden MG et al. | Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX. | 2008 | J. Inherit. Metab. Dis. | pmid:18949577 |
| Griffiths WJ et al. | Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. | 2008 | Clin. Chem. | pmid:18556335 |
| Paila YD et al. | Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome. | 2008 | Biochim. Biophys. Acta | pmid:18381059 |
| Eapen BR | Photosensitivity in Smith-Lemli-Opitz syndrome: a flux balance analysis of altered metabolism. | 2007 | Bioinformation | pmid:18188427 |
| Haas D et al. | Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). | 2007 | J. Inherit. Metab. Dis. | pmid:17497248 |
| Yu H et al. | Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice. | 2007 | BMC Dev. Biol. | pmid:17408495 |
| Sikora DM et al. | The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. | 2006 | Am. J. Med. Genet. A | pmid:16761297 |
| 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 |
| 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 |
| 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 |
| Lindenthal B et al. | Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome. | 2004 Mar-Apr | Klin Padiatr | pmid:15106076 |
| Marcos J et al. | The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production. | 2004 | Steroids | pmid:14715377 |
| Merkens LS et al. | Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. | 2004 | Pediatr. Res. | pmid:15319461 |
| Caruso PA et al. | MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. | 2004 | Neuroradiology | pmid:14605787 |
| 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 |
| Aughton DJ et al. | X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. | 2003 | Am. J. Med. Genet. A | pmid:12503102 |
| 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 |
| Wassif CA et al. | 27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway. | 2003 | Steroids | pmid:12906934 |
| 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 |
| 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 |
| Starck L et al. | Simvastatin treatment in the SLO syndrome: a safe approach? | 2002 | Am. J. Med. Genet. | pmid:12407710 |
| Has C et al. | Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome. | 2002 | J. Invest. Dermatol. | pmid:11982764 |
| 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 |
| Ruan B et al. | Sterols in blood of normal and Smith-Lemli-Opitz subjects. | 2001 | J. Lipid Res. | pmid:11352988 |
| Lindenthal B et al. | Neutral sterols of rat epididymis. High concentrations of dehydrocholesterols in rat caput epididymidis. | 2001 | J. Lipid Res. | pmid:11441136 |
| Ruan B et al. | Synthesis of [3alpha-3H]cholesta-5,8-dien-3beta-ol and tritium-labeled forms of other sterols of potential importance in the Smith-Lemli-Optiz syndrome. | 2000 | Steroids | pmid:10624834 |
| Starck L and Lövgren A | Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens. | 2000 | Arch. Dis. Child. | pmid:10833186 |
| Jira PE et al. | Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. | 2000 | J. Lipid Res. | pmid:10946022 |
| 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 |
| Tint GS et al. | Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. | 1998 | Prenat. Diagn. | pmid:9706645 |
| Jira PE et al. | Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome. | 1997 | Clin. Chem. | pmid:8990234 |
| Ruan B et al. | Silver ion high pressure liquid chromatography provides unprecedented separation of sterols: application to the enzymatic formation of cholesta-5,8-dien-3 beta-ol. | 1996 | Proc. Natl. Acad. Sci. U.S.A. | pmid:8876182 |
| Wolf C et al. | Changes in serum sterols of rats treated with 7-dehydrocholesterol-delta 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome. | 1996 | J. Lipid Res. | pmid:8808767 |
| Batta AK et al. | Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome. | 1995 | J. Lipid Res. | pmid:8656079 |
| Fumagalli R et al. | The identification of a novel C27 diene, cholesta-5,8-dien-3 beta-OL, in tissues of rats given AY-9944 (trans-1,4-bis(2-dichlorobenzylaminoethyl)cyclohexane) in pregnancy. | 1980 | Steroids | pmid:6157233 |