Matches in SemOpenAlex for { <https://semopenalex.org/work/W1974089312> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W1974089312 abstract "Familial hypercholesterolemia (FH) is an autosomal dominant disease which results in 2-3-fold elevated cholesterol levels and in accelerated atherosclerosis. FH is caused by small mutations or larger rearrangements in the low-density lipoprotein receptor (LDLR). Here, we report that screening the LDLR gene in a Swiss family (n = 15) with clinical symptoms of FH by combined single strand conformation polymorphism and long-distance PCR identified a novel 1.3 kb deletion in the LDLR. The deletion eliminated exon 4 of the LDLR presumably by recombination between two identical 25 bp repeats present in intron 3 and 4. The 25 bp sequence in intron 3 is part of an Alu repeat, whereas no homology to Alu repeats was found for the intron 4 region. This 1.3 kb LDLR deletion allele cosegregated with elevated cholesterol levels over three generations. Even on high-dose statin therapy, carriers of the deletion averaged 1.6 times higher cholesterol levels and 1.9 times higher apolipoprotein B-100 (apoB-100) levels than non-carriers who had lipid and apoB-100 levels within the range of the Swiss population. Most affected members of the first and second generation of this family had experienced a first myocardial infarction (MI) before the age of 55 years and most LDLR gene deletion carriers older than 40 years showed severe coronary artery disease (CAD). Hence, we conclude that deletion of exon 4 in the LDLR gene drastically decreases low-density lipoprotein binding leading to severe hypercholesterolemia." @default.
- W1974089312 created "2016-06-24" @default.
- W1974089312 creator A5003041263 @default.
- W1974089312 creator A5013727186 @default.
- W1974089312 creator A5022674467 @default.
- W1974089312 creator A5029425739 @default.
- W1974089312 creator A5045293936 @default.
- W1974089312 creator A5048531148 @default.
- W1974089312 creator A5059305386 @default.
- W1974089312 creator A5065350044 @default.
- W1974089312 date "2003-01-24" @default.
- W1974089312 modified "2023-09-25" @default.
- W1974089312 title "Detection of a Novel Exon 4 Low-Density Lipoprotein Receptor Gene Deletion in a Swiss Family with Severe Familial Hypercholesterolemia" @default.
- W1974089312 cites W1492698022 @default.
- W1974089312 cites W1595294831 @default.
- W1974089312 cites W1895304679 @default.
- W1974089312 cites W1968228738 @default.
- W1974089312 cites W1990920220 @default.
- W1974089312 cites W1996241166 @default.
- W1974089312 cites W2032669454 @default.
- W1974089312 cites W2082002745 @default.
- W1974089312 cites W2099758425 @default.
- W1974089312 cites W2100411480 @default.
- W1974089312 cites W2112698709 @default.
- W1974089312 cites W2120146719 @default.
- W1974089312 cites W2120297447 @default.
- W1974089312 cites W2126890552 @default.
- W1974089312 cites W2139421646 @default.
- W1974089312 cites W2144942835 @default.
- W1974089312 cites W2151675684 @default.
- W1974089312 cites W4249898731 @default.
- W1974089312 doi "https://doi.org/10.1515/cclm.2003.041" @default.
- W1974089312 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12705331" @default.
- W1974089312 hasPublicationYear "2003" @default.
- W1974089312 type Work @default.
- W1974089312 sameAs 1974089312 @default.
- W1974089312 citedByCount "9" @default.
- W1974089312 countsByYear W19740893122013 @default.
- W1974089312 countsByYear W19740893122014 @default.
- W1974089312 crossrefType "journal-article" @default.
- W1974089312 hasAuthorship W1974089312A5003041263 @default.
- W1974089312 hasAuthorship W1974089312A5013727186 @default.
- W1974089312 hasAuthorship W1974089312A5022674467 @default.
- W1974089312 hasAuthorship W1974089312A5029425739 @default.
- W1974089312 hasAuthorship W1974089312A5045293936 @default.
- W1974089312 hasAuthorship W1974089312A5048531148 @default.
- W1974089312 hasAuthorship W1974089312A5059305386 @default.
- W1974089312 hasAuthorship W1974089312A5065350044 @default.
- W1974089312 hasBestOaLocation W19740893122 @default.
- W1974089312 hasConcept C104317684 @default.
- W1974089312 hasConcept C126322002 @default.
- W1974089312 hasConcept C134018914 @default.
- W1974089312 hasConcept C180754005 @default.
- W1974089312 hasConcept C2778163477 @default.
- W1974089312 hasConcept C2779120738 @default.
- W1974089312 hasConcept C2780072125 @default.
- W1974089312 hasConcept C36823959 @default.
- W1974089312 hasConcept C43554185 @default.
- W1974089312 hasConcept C54355233 @default.
- W1974089312 hasConcept C62746215 @default.
- W1974089312 hasConcept C71924100 @default.
- W1974089312 hasConcept C86803240 @default.
- W1974089312 hasConcept C94671646 @default.
- W1974089312 hasConceptScore W1974089312C104317684 @default.
- W1974089312 hasConceptScore W1974089312C126322002 @default.
- W1974089312 hasConceptScore W1974089312C134018914 @default.
- W1974089312 hasConceptScore W1974089312C180754005 @default.
- W1974089312 hasConceptScore W1974089312C2778163477 @default.
- W1974089312 hasConceptScore W1974089312C2779120738 @default.
- W1974089312 hasConceptScore W1974089312C2780072125 @default.
- W1974089312 hasConceptScore W1974089312C36823959 @default.
- W1974089312 hasConceptScore W1974089312C43554185 @default.
- W1974089312 hasConceptScore W1974089312C54355233 @default.
- W1974089312 hasConceptScore W1974089312C62746215 @default.
- W1974089312 hasConceptScore W1974089312C71924100 @default.
- W1974089312 hasConceptScore W1974089312C86803240 @default.
- W1974089312 hasConceptScore W1974089312C94671646 @default.
- W1974089312 hasIssue "3" @default.
- W1974089312 hasLocation W19740893121 @default.
- W1974089312 hasLocation W19740893122 @default.
- W1974089312 hasLocation W19740893123 @default.
- W1974089312 hasOpenAccess W1974089312 @default.
- W1974089312 hasPrimaryLocation W19740893121 @default.
- W1974089312 hasRelatedWork W2002668907 @default.
- W1974089312 hasRelatedWork W2025648868 @default.
- W1974089312 hasRelatedWork W2039352533 @default.
- W1974089312 hasRelatedWork W2072880852 @default.
- W1974089312 hasRelatedWork W2091410379 @default.
- W1974089312 hasRelatedWork W2092554027 @default.
- W1974089312 hasRelatedWork W2137089609 @default.
- W1974089312 hasRelatedWork W2165140407 @default.
- W1974089312 hasRelatedWork W4231931130 @default.
- W1974089312 hasRelatedWork W4242521457 @default.
- W1974089312 hasVolume "41" @default.
- W1974089312 isParatext "false" @default.
- W1974089312 isRetracted "false" @default.
- W1974089312 magId "1974089312" @default.
- W1974089312 workType "article" @default.