Matches in SemOpenAlex for { <https://semopenalex.org/work/W2129477632> ?p ?o ?g. }
Showing items 1 to 83 of
83
with 100 items per page.
- W2129477632 endingPage "151" @default.
- W2129477632 startingPage "151" @default.
- W2129477632 abstract "Phytosterolemia or Sitosterolemia is a rare autosomal recessive disorder characterized by highly elevated plasma levels of plant sterols and cholesterol as a consequence of hyperabsorption and impaired biliary secretion of sterols. The disease is caused by mutations in two half size ATP-binding cassette transporters, ABCG5 and ABCG8. We have analyzed the genomic sequence of ABCG5 and ABCG8 in five well-characterized patients with Sitosterolemia. In the first patient we found a heterozygous mutation in exon 8 of the ABCG5 gene leading to a premature termination of the protein (Arg408Ter). This German patient is the first European showing a mutation of the ABCG5 gene. In a second patient we found a novel heterozygous mutation in exon 5 of ABCG8 (c.584T>A; Leu195Gln). Both patients were heterozygous for the identified mutation, but no mutation could be identified on the other chromosome. In three further analyzed patients we found mutations in exons 7, 9 and 11 of the ABCG8 gene, respectively, of which two result in a premature termination signal for translation products. One of these patients was compound heterozygous (Trp361Ter and Arg412Ter), the other was homozygous for Trp361Ter. The third patient was homozygous for an amino acid exchange (Gly574Arg). In conclusion this report describes one novel mutation affecting a highly conserved amino acid and two previously identified mutations in the ABCG8 gene. In addition, we identified for the first time a mutation in the ABCG5 gene of a European Sitosterolemia patient." @default.
- W2129477632 created "2016-06-24" @default.
- W2129477632 creator A5012010003 @default.
- W2129477632 creator A5017652331 @default.
- W2129477632 creator A5034725617 @default.
- W2129477632 creator A5041253813 @default.
- W2129477632 creator A5052516859 @default.
- W2129477632 creator A5058798835 @default.
- W2129477632 creator A5070833222 @default.
- W2129477632 creator A5088611984 @default.
- W2129477632 date "2002-07-16" @default.
- W2129477632 modified "2023-10-15" @default.
- W2129477632 title "Mutations in the human ATP-binding cassette transportersABCG5 andABCG8 in sitosterolemia" @default.
- W2129477632 cites W1510167055 @default.
- W2129477632 cites W1854805603 @default.
- W2129477632 cites W1995961169 @default.
- W2129477632 cites W2011954911 @default.
- W2129477632 cites W2051463254 @default.
- W2129477632 cites W2099378835 @default.
- W2129477632 cites W3145894777 @default.
- W2129477632 cites W2613634495 @default.
- W2129477632 doi "https://doi.org/10.1002/humu.9047" @default.
- W2129477632 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12124998" @default.
- W2129477632 hasPublicationYear "2002" @default.
- W2129477632 type Work @default.
- W2129477632 sameAs 2129477632 @default.
- W2129477632 citedByCount "65" @default.
- W2129477632 countsByYear W21294776322012 @default.
- W2129477632 countsByYear W21294776322013 @default.
- W2129477632 countsByYear W21294776322014 @default.
- W2129477632 countsByYear W21294776322015 @default.
- W2129477632 countsByYear W21294776322017 @default.
- W2129477632 countsByYear W21294776322018 @default.
- W2129477632 countsByYear W21294776322019 @default.
- W2129477632 countsByYear W21294776322020 @default.
- W2129477632 countsByYear W21294776322021 @default.
- W2129477632 countsByYear W21294776322022 @default.
- W2129477632 countsByYear W21294776322023 @default.
- W2129477632 crossrefType "journal-article" @default.
- W2129477632 hasAuthorship W2129477632A5012010003 @default.
- W2129477632 hasAuthorship W2129477632A5017652331 @default.
- W2129477632 hasAuthorship W2129477632A5034725617 @default.
- W2129477632 hasAuthorship W2129477632A5041253813 @default.
- W2129477632 hasAuthorship W2129477632A5052516859 @default.
- W2129477632 hasAuthorship W2129477632A5058798835 @default.
- W2129477632 hasAuthorship W2129477632A5070833222 @default.
- W2129477632 hasAuthorship W2129477632A5088611984 @default.
- W2129477632 hasConcept C104317684 @default.
- W2129477632 hasConcept C12125453 @default.
- W2129477632 hasConcept C153911025 @default.
- W2129477632 hasConcept C36823959 @default.
- W2129477632 hasConcept C501734568 @default.
- W2129477632 hasConcept C54355233 @default.
- W2129477632 hasConcept C86803240 @default.
- W2129477632 hasConceptScore W2129477632C104317684 @default.
- W2129477632 hasConceptScore W2129477632C12125453 @default.
- W2129477632 hasConceptScore W2129477632C153911025 @default.
- W2129477632 hasConceptScore W2129477632C36823959 @default.
- W2129477632 hasConceptScore W2129477632C501734568 @default.
- W2129477632 hasConceptScore W2129477632C54355233 @default.
- W2129477632 hasConceptScore W2129477632C86803240 @default.
- W2129477632 hasIssue "2" @default.
- W2129477632 hasLocation W21294776321 @default.
- W2129477632 hasLocation W21294776322 @default.
- W2129477632 hasOpenAccess W2129477632 @default.
- W2129477632 hasPrimaryLocation W21294776321 @default.
- W2129477632 hasRelatedWork W1964168685 @default.
- W2129477632 hasRelatedWork W2081360615 @default.
- W2129477632 hasRelatedWork W2118812285 @default.
- W2129477632 hasRelatedWork W2352780564 @default.
- W2129477632 hasRelatedWork W2384981559 @default.
- W2129477632 hasRelatedWork W2388007221 @default.
- W2129477632 hasRelatedWork W2416264861 @default.
- W2129477632 hasRelatedWork W2582733070 @default.
- W2129477632 hasRelatedWork W2951456844 @default.
- W2129477632 hasRelatedWork W70397127 @default.
- W2129477632 hasVolume "20" @default.
- W2129477632 isParatext "false" @default.
- W2129477632 isRetracted "false" @default.
- W2129477632 magId "2129477632" @default.
- W2129477632 workType "article" @default.