FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1641857883> ?p ?o ?g. }

• W1641857883 endingPage "15" @default.
• W1641857883 startingPage "907" @default.
• W1641857883 abstract "Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27 hydroxylase gene (CYP27). Clinically, a multitude of neurological, skeletal, and vascular manifestations are usually present. Premature atherosclerosis has been reported in CTX and may be related to the metabolic derangement caused by the deficiency of the enzyme. A CYP27 nonsense mutation created by the deletion of cytosine376 has been identified in four Israeli Druze CTX patients residing in the same village. Molecular screening for this mutation in families of two probands revealed a total of 10 homozygotes and 28 heterozygotes whose clinical and biochemical characteristics are described. Overall, except for tendon xanthomas, most of the clinical manifestations progress with age. The CYP27 mutation was associated with modest differences in the levels of plasma total cholesterol (TC) and LDL cholesterol (LDL-C). The distribution of plasma concentrations of TC and LDL-C in the CTX families was consistent with a polygenic model. A similar model that includes also the effects of the CYP27 genotypes was not better supported by the data. It may be concluded that, in CTX, the presence of a CYP27 mutation does not significantly affect the plasma concentrations of lipids and lipoproteins. Therefore, the reported increased prevalence of atherosclerosis in this disease must be related to other factors." @default.
• W1641857883 created "2016-06-24" @default.
• W1641857883 creator A5004760534 @default.
• W1641857883 creator A5012900671 @default.
• W1641857883 creator A5031626085 @default.
• W1641857883 creator A5036590713 @default.
• W1641857883 creator A5069470782 @default.
• W1641857883 creator A5072704585 @default.
• W1641857883 creator A5074308323 @default.
• W1641857883 creator A5087535133 @default.
• W1641857883 date "1994-11-01" @default.
• W1641857883 modified "2023-09-26" @default.
• W1641857883 title "Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics." @default.
• W1641857883 cites W1557519226 @default.
• W1641857883 cites W1614765948 @default.
• W1641857883 cites W167992241 @default.
• W1641857883 cites W1756806994 @default.
• W1641857883 cites W1845064096 @default.
• W1641857883 cites W1918753502 @default.
• W1641857883 cites W1989176564 @default.
• W1641857883 cites W1994446164 @default.
• W1641857883 cites W1996027687 @default.
• W1641857883 cites W2004152365 @default.
• W1641857883 cites W2012414997 @default.
• W1641857883 cites W2017602185 @default.
• W1641857883 cites W2022451521 @default.
• W1641857883 cites W2032118018 @default.
• W1641857883 cites W2037957091 @default.
• W1641857883 cites W2051647445 @default.
• W1641857883 cites W2060333964 @default.
• W1641857883 cites W2081878950 @default.
• W1641857883 cites W2095322423 @default.
• W1641857883 cites W2116404316 @default.
• W1641857883 cites W2133612028 @default.
• W1641857883 cites W2138270253 @default.
• W1641857883 cites W2146768805 @default.
• W1641857883 cites W2159758354 @default.
• W1641857883 cites W2185907051 @default.
• W1641857883 cites W2319464753 @default.
• W1641857883 cites W2407298079 @default.
• W1641857883 cites W2413717985 @default.
• W1641857883 cites W2576734941 @default.
• W1641857883 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1918342" @default.
• W1641857883 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7977352" @default.
• W1641857883 hasPublicationYear "1994" @default.
• W1641857883 type Work @default.
• W1641857883 sameAs 1641857883 @default.
• W1641857883 citedByCount "19" @default.
• W1641857883 countsByYear W16418578832015 @default.
• W1641857883 crossrefType "journal-article" @default.
• W1641857883 hasAuthorship W1641857883A5004760534 @default.
• W1641857883 hasAuthorship W1641857883A5012900671 @default.
• W1641857883 hasAuthorship W1641857883A5031626085 @default.
• W1641857883 hasAuthorship W1641857883A5036590713 @default.
• W1641857883 hasAuthorship W1641857883A5069470782 @default.
• W1641857883 hasAuthorship W1641857883A5072704585 @default.
• W1641857883 hasAuthorship W1641857883A5074308323 @default.
• W1641857883 hasAuthorship W1641857883A5087535133 @default.
• W1641857883 hasConcept C104317684 @default.
• W1641857883 hasConcept C12125453 @default.
• W1641857883 hasConcept C126322002 @default.
• W1641857883 hasConcept C127716648 @default.
• W1641857883 hasConcept C134018914 @default.
• W1641857883 hasConcept C135763542 @default.
• W1641857883 hasConcept C153471976 @default.
• W1641857883 hasConcept C188997412 @default.
• W1641857883 hasConcept C2778163477 @default.
• W1641857883 hasConcept C2909350188 @default.
• W1641857883 hasConcept C501734568 @default.
• W1641857883 hasConcept C54355233 @default.
• W1641857883 hasConcept C71924100 @default.
• W1641857883 hasConcept C75563809 @default.
• W1641857883 hasConcept C86803240 @default.
• W1641857883 hasConcept C96777560 @default.
• W1641857883 hasConceptScore W1641857883C104317684 @default.
• W1641857883 hasConceptScore W1641857883C12125453 @default.
• W1641857883 hasConceptScore W1641857883C126322002 @default.
• W1641857883 hasConceptScore W1641857883C127716648 @default.
• W1641857883 hasConceptScore W1641857883C134018914 @default.
• W1641857883 hasConceptScore W1641857883C135763542 @default.
• W1641857883 hasConceptScore W1641857883C153471976 @default.
• W1641857883 hasConceptScore W1641857883C188997412 @default.
• W1641857883 hasConceptScore W1641857883C2778163477 @default.
• W1641857883 hasConceptScore W1641857883C2909350188 @default.
• W1641857883 hasConceptScore W1641857883C501734568 @default.
• W1641857883 hasConceptScore W1641857883C54355233 @default.
• W1641857883 hasConceptScore W1641857883C71924100 @default.
• W1641857883 hasConceptScore W1641857883C75563809 @default.
• W1641857883 hasConceptScore W1641857883C86803240 @default.
• W1641857883 hasConceptScore W1641857883C96777560 @default.
• W1641857883 hasIssue "5" @default.
• W1641857883 hasLocation W16418578831 @default.
• W1641857883 hasOpenAccess W1641857883 @default.
• W1641857883 hasPrimaryLocation W16418578831 @default.
• W1641857883 hasRelatedWork W2023056161 @default.
• W1641857883 hasRelatedWork W2075438665 @default.
• W1641857883 hasRelatedWork W2124672306 @default.
• W1641857883 hasRelatedWork W2143652908 @default.

• next