FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2135156264> ?p ?o ?g. }

• W2135156264 endingPage "2770" @default.
• W2135156264 startingPage "2764" @default.
• W2135156264 abstract "Marfan syndrome is an autosomal dominant disorder mainly caused by mutations within FBN1 gene. The disease displays large variability in age of onset or severity and very poor phenotype/genotype correlations have been demonstrated. We investigated the hypothesis that phenotype severity could be related to the variable expression level of fibrillin-1 (FBN1) synthesized from the wild-type (WT) allele. Quantitative reverse-transcription and polymerase chain reaction was used to evaluate FBN1 levels in skin fibroblasts from 80 Marfan patients with premature termination codons and in skin fibroblasts from 80 controls. Results in controls showed a 3.9-fold variation in FBN1 mRNA synthesis level between subjects. A similar 4.4-fold variation was found in the Marfan population, but the mean level of FBN1 mRNA was a half of the control population. Differential allelic expression analysis in Marfan fibroblasts showed that over 90% of FBN1 mRNA was transcribed from the wild allele and the mutated allele was not detected. In the control population, independently of the expression level of FBN1, we observed steady-state equilibrium between the two allelic-mRNAs suggesting that FBN1 expression mainly depends on trans-acting regulators. Finally, we show that a low level of residual WT FBN1 mRNA accounts for a high risk of ectopia lentis and pectus abnormality and tends to increase the risk of aortic dilatation." @default.
• W2135156264 created "2016-06-24" @default.
• W2135156264 creator A5005071077 @default.
• W2135156264 creator A5016544392 @default.
• W2135156264 creator A5025297504 @default.
• W2135156264 creator A5026642175 @default.
• W2135156264 creator A5032079900 @default.
• W2135156264 creator A5050725863 @default.
• W2135156264 creator A5054639118 @default.
• W2135156264 creator A5055519983 @default.
• W2135156264 creator A5056378468 @default.
• W2135156264 creator A5063387408 @default.
• W2135156264 date "2015-02-04" @default.
• W2135156264 modified "2023-10-12" @default.
• W2135156264 title "The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele" @default.
• W2135156264 cites W1577577364 @default.
• W2135156264 cites W1967510639 @default.
• W2135156264 cites W1976141468 @default.
• W2135156264 cites W1979964839 @default.
• W2135156264 cites W1987891430 @default.
• W2135156264 cites W1992088789 @default.
• W2135156264 cites W2002491526 @default.
• W2135156264 cites W2003062464 @default.
• W2135156264 cites W2027724313 @default.
• W2135156264 cites W2076737381 @default.
• W2135156264 cites W2090503764 @default.
• W2135156264 cites W2090974702 @default.
• W2135156264 cites W2099021682 @default.
• W2135156264 cites W2113708630 @default.
• W2135156264 cites W2114158553 @default.
• W2135156264 cites W2122972697 @default.
• W2135156264 cites W2136841466 @default.
• W2135156264 cites W2146979392 @default.
• W2135156264 cites W2147283478 @default.
• W2135156264 cites W2147542797 @default.
• W2135156264 cites W2167464701 @default.
• W2135156264 cites W2168420558 @default.
• W2135156264 doi "https://doi.org/10.1093/hmg/ddv037" @default.
• W2135156264 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25652400" @default.
• W2135156264 hasPublicationYear "2015" @default.
• W2135156264 type Work @default.
• W2135156264 sameAs 2135156264 @default.
• W2135156264 citedByCount "54" @default.
• W2135156264 countsByYear W21351562642015 @default.
• W2135156264 countsByYear W21351562642016 @default.
• W2135156264 countsByYear W21351562642017 @default.
• W2135156264 countsByYear W21351562642018 @default.
• W2135156264 countsByYear W21351562642019 @default.
• W2135156264 countsByYear W21351562642020 @default.
• W2135156264 countsByYear W21351562642021 @default.
• W2135156264 countsByYear W21351562642022 @default.
• W2135156264 countsByYear W21351562642023 @default.
• W2135156264 crossrefType "journal-article" @default.
• W2135156264 hasAuthorship W2135156264A5005071077 @default.
• W2135156264 hasAuthorship W2135156264A5016544392 @default.
• W2135156264 hasAuthorship W2135156264A5025297504 @default.
• W2135156264 hasAuthorship W2135156264A5026642175 @default.
• W2135156264 hasAuthorship W2135156264A5032079900 @default.
• W2135156264 hasAuthorship W2135156264A5050725863 @default.
• W2135156264 hasAuthorship W2135156264A5054639118 @default.
• W2135156264 hasAuthorship W2135156264A5055519983 @default.
• W2135156264 hasAuthorship W2135156264A5056378468 @default.
• W2135156264 hasAuthorship W2135156264A5063387408 @default.
• W2135156264 hasBestOaLocation W21351562641 @default.
• W2135156264 hasConcept C104317684 @default.
• W2135156264 hasConcept C105580179 @default.
• W2135156264 hasConcept C126322002 @default.
• W2135156264 hasConcept C127716648 @default.
• W2135156264 hasConcept C135763542 @default.
• W2135156264 hasConcept C153911025 @default.
• W2135156264 hasConcept C180754005 @default.
• W2135156264 hasConcept C2780561598 @default.
• W2135156264 hasConcept C2781121460 @default.
• W2135156264 hasConcept C2908647359 @default.
• W2135156264 hasConcept C54355233 @default.
• W2135156264 hasConcept C71924100 @default.
• W2135156264 hasConcept C76334062 @default.
• W2135156264 hasConcept C86803240 @default.
• W2135156264 hasConcept C99454951 @default.
• W2135156264 hasConceptScore W2135156264C104317684 @default.
• W2135156264 hasConceptScore W2135156264C105580179 @default.
• W2135156264 hasConceptScore W2135156264C126322002 @default.
• W2135156264 hasConceptScore W2135156264C127716648 @default.
• W2135156264 hasConceptScore W2135156264C135763542 @default.
• W2135156264 hasConceptScore W2135156264C153911025 @default.
• W2135156264 hasConceptScore W2135156264C180754005 @default.
• W2135156264 hasConceptScore W2135156264C2780561598 @default.
• W2135156264 hasConceptScore W2135156264C2781121460 @default.
• W2135156264 hasConceptScore W2135156264C2908647359 @default.
• W2135156264 hasConceptScore W2135156264C54355233 @default.
• W2135156264 hasConceptScore W2135156264C71924100 @default.
• W2135156264 hasConceptScore W2135156264C76334062 @default.
• W2135156264 hasConceptScore W2135156264C86803240 @default.
• W2135156264 hasConceptScore W2135156264C99454951 @default.
• W2135156264 hasIssue "10" @default.
• W2135156264 hasLocation W21351562641 @default.
• W2135156264 hasLocation W21351562642 @default.
• W2135156264 hasOpenAccess W2135156264 @default.

• next