FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000239106> ?p ?o ?g. }

• W2000239106 endingPage "346" @default.
• W2000239106 startingPage "339" @default.
• W2000239106 abstract "Smith-Lemli-Opitz syndrome (SLOS) is a severe developmental disorder caused by mutations in the DHCR7 gene coding for 7-dehydrocholesterol (7-DHC) reductase, the enzyme involved in the last step of cholesterol biosynthesis. SLOS homozygotes exhibit marked deficiency of cholesterol in plasma and tissues with concomitant increase in 7-DHC. Ultraviolet A (UVA) photosensitivity has been recognized as part of SLOS with maximal response occurring at 350 nm. 7-DHC itself has no UVA absorption and so cannot be the direct cause of SLOS photosensitivity. However, cholesta-5,7,9(11)-trien-3beta-ol (9-DDHC), a metabolite of 7-DHC, has been detected in plasma from SLOS patients. Because 9-DDHC has strong absorption in the UVA range (approximately 15,000 @ 324 nm), we have examined its photobiology to determine whether it could be involved in SLOS photosensitivity. High levels of 7-DHC (0.65 mg/100 g wet weight) and measurable amounts of 9-DDHC (0.042 mg/100 g wet weight) were found in skin lipids extracted from CD-1 mice treated with AY9944 (trans-1,4-bis(2-chlorobenzylaminomethyl)cyclohexane dihydrochloride), an inhibitor of 7-DHC reductase. Human HaCaT keratinocytes treated with 9-DDHC (10 microM) and then immediately exposed to UVA (15 J/cm2) exhibited an 88% decrease in viability (compared to dark controls). No damage was observed in cells exposed to 7-DHC/UVA or UVA alone. However, HaCaT keratinocytes treated with 7-DHC (5 microM) for 15 h and then exposed to UVA (30 J/cm2) were damaged. 9-DDHC was detected in keratinocytes incubated with 7-DHC. Reactive oxygen species were detected in 9-DDHC/UVA-exposed cells using the fluorescent probe 5-(and 6-)-chloromethyl-2',7'-dichlorodihydrofluorescein diacetate acetyl ester. Singlet oxygen was generated when 9-DDHC was UVA irradiated in CCl4. UVA irradiation of 9-DDHC in acetonitrile generated superoxide and carbon-centered and alkoxyl radicals which were trapped by 5,5-dimethyl-1-pyrroline N-oxide. These findings suggest that reactive oxygen species generated by 9-DDHC may play a role in the UVA skin photosensitivity of SLOS patients. Furthermore, several statin drugs inhibit 7-DHC reductase, in addition to hydroxymethylglutaryl-CoenzymeA reductase, so that 9-DDHC may also be responsible for statin-derived photosensitivity, dermatoses, and cataract formation. Finally, we have previously detected 9-DDHC in skin lipids from normal subjects, so this sterol may also be the skin chromophore responsible for skin photoaging and UV-induced skin cancer." @default.
• W2000239106 created "2016-06-24" @default.
• W2000239106 creator A5012123010 @default.
• W2000239106 creator A5030578992 @default.
• W2000239106 creator A5066234326 @default.
• W2000239106 creator A5075305187 @default.
• W2000239106 creator A5087992186 @default.
• W2000239106 date "2006-07-01" @default.
• W2000239106 modified "2023-09-25" @default.
• W2000239106 title "Ultraviolet A sensitivity in Smith–Lemli–Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3β-ol" @default.
• W2000239106 cites W1969291683 @default.
• W2000239106 cites W1976341140 @default.
• W2000239106 cites W1980075215 @default.
• W2000239106 cites W1985007551 @default.
• W2000239106 cites W2001369026 @default.
• W2000239106 cites W2001761702 @default.
• W2000239106 cites W2004742827 @default.
• W2000239106 cites W2014869650 @default.
• W2000239106 cites W2047758994 @default.
• W2000239106 cites W2048980885 @default.
• W2000239106 cites W2055795007 @default.
• W2000239106 cites W2060026323 @default.
• W2000239106 cites W2072210156 @default.
• W2000239106 cites W2085835127 @default.
• W2000239106 cites W2090778313 @default.
• W2000239106 cites W2093978777 @default.
• W2000239106 cites W2098182055 @default.
• W2000239106 cites W2117783323 @default.
• W2000239106 cites W2120363532 @default.
• W2000239106 cites W2132695435 @default.
• W2000239106 cites W2143464311 @default.
• W2000239106 cites W2151418424 @default.
• W2000239106 cites W2156679744 @default.
• W2000239106 cites W2166566860 @default.
• W2000239106 cites W2187372935 @default.
• W2000239106 cites W2189149517 @default.
• W2000239106 cites W2287816617 @default.
• W2000239106 cites W2397697474 @default.
• W2000239106 cites W1964026938 @default.
• W2000239106 doi "https://doi.org/10.1016/j.freeradbiomed.2006.04.021" @default.
• W2000239106 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16814115" @default.
• W2000239106 hasPublicationYear "2006" @default.
• W2000239106 type Work @default.
• W2000239106 sameAs 2000239106 @default.
• W2000239106 citedByCount "30" @default.
• W2000239106 countsByYear W20002391062012 @default.
• W2000239106 countsByYear W20002391062013 @default.
• W2000239106 countsByYear W20002391062014 @default.
• W2000239106 countsByYear W20002391062016 @default.
• W2000239106 countsByYear W20002391062017 @default.
• W2000239106 countsByYear W20002391062018 @default.
• W2000239106 countsByYear W20002391062022 @default.
• W2000239106 countsByYear W20002391062023 @default.
• W2000239106 crossrefType "journal-article" @default.
• W2000239106 hasAuthorship W2000239106A5012123010 @default.
• W2000239106 hasAuthorship W2000239106A5030578992 @default.
• W2000239106 hasAuthorship W2000239106A5066234326 @default.
• W2000239106 hasAuthorship W2000239106A5075305187 @default.
• W2000239106 hasAuthorship W2000239106A5087992186 @default.
• W2000239106 hasConcept C104788683 @default.
• W2000239106 hasConcept C118995209 @default.
• W2000239106 hasConcept C121332964 @default.
• W2000239106 hasConcept C126322002 @default.
• W2000239106 hasConcept C134018914 @default.
• W2000239106 hasConcept C134651460 @default.
• W2000239106 hasConcept C181199279 @default.
• W2000239106 hasConcept C185592680 @default.
• W2000239106 hasConcept C186807665 @default.
• W2000239106 hasConcept C202751555 @default.
• W2000239106 hasConcept C2778163477 @default.
• W2000239106 hasConcept C2780716534 @default.
• W2000239106 hasConcept C55493867 @default.
• W2000239106 hasConcept C62520636 @default.
• W2000239106 hasConcept C71924100 @default.
• W2000239106 hasConcept C86803240 @default.
• W2000239106 hasConceptScore W2000239106C104788683 @default.
• W2000239106 hasConceptScore W2000239106C118995209 @default.
• W2000239106 hasConceptScore W2000239106C121332964 @default.
• W2000239106 hasConceptScore W2000239106C126322002 @default.
• W2000239106 hasConceptScore W2000239106C134018914 @default.
• W2000239106 hasConceptScore W2000239106C134651460 @default.
• W2000239106 hasConceptScore W2000239106C181199279 @default.
• W2000239106 hasConceptScore W2000239106C185592680 @default.
• W2000239106 hasConceptScore W2000239106C186807665 @default.
• W2000239106 hasConceptScore W2000239106C202751555 @default.
• W2000239106 hasConceptScore W2000239106C2778163477 @default.
• W2000239106 hasConceptScore W2000239106C2780716534 @default.
• W2000239106 hasConceptScore W2000239106C55493867 @default.
• W2000239106 hasConceptScore W2000239106C62520636 @default.
• W2000239106 hasConceptScore W2000239106C71924100 @default.
• W2000239106 hasConceptScore W2000239106C86803240 @default.
• W2000239106 hasIssue "2" @default.
• W2000239106 hasLocation W20002391061 @default.
• W2000239106 hasLocation W20002391062 @default.
• W2000239106 hasOpenAccess W2000239106 @default.
• W2000239106 hasPrimaryLocation W20002391061 @default.
• W2000239106 hasRelatedWork W1963931200 @default.
• W2000239106 hasRelatedWork W1966834268 @default.

• next