FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1768565458> ?p ?o ?g. }

• W1768565458 endingPage "697" @default.
• W1768565458 startingPage "693" @default.
• W1768565458 abstract "Buschke-Ollendorff syndrome refers to the concomitant occurrence of connective tissue nevi, composed of elastic fibers in most cases, with osteopoikilosis. This autosomal dominant inherited disorder is caused by mutations in the gene LEMD3 on chromosome 12q14, which induces a rather heterogeneous clinical phenotype. Here, we report on the most proximal germline mutation found to date in the LEMD3 gene, p.Val94fs, in a three-generation Swiss family. Quantitative RNA analyses in affected and non-affected skin tissue from the proband demonstrate a comparable nonsense-mediated decay of mutant LEMD3 mRNA in both tissues; however, different levels of tropoelastin expression suggest that additional factors are involved in the development of the cutaneous lesions." @default.
• W1768565458 created "2016-06-24" @default.
• W1768565458 creator A5026115088 @default.
• W1768565458 creator A5037764030 @default.
• W1768565458 creator A5042641044 @default.
• W1768565458 creator A5047402726 @default.
• W1768565458 creator A5050718731 @default.
• W1768565458 creator A5056072166 @default.
• W1768565458 creator A5070339219 @default.
• W1768565458 creator A5080351960 @default.
• W1768565458 date "2010-11-01" @default.
• W1768565458 modified "2023-10-03" @default.
• W1768565458 title "Buschke-Ollendorff syndrome in a three-generation family: Influence of a novel LEMD3 mutation to tropoelastin expression" @default.
• W1768565458 doi "https://doi.org/10.1684/ejd.2010.1051" @default.
• W1768565458 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20732851" @default.
• W1768565458 hasPublicationYear "2010" @default.
• W1768565458 type Work @default.
• W1768565458 sameAs 1768565458 @default.
• W1768565458 citedByCount "10" @default.
• W1768565458 countsByYear W17685654582012 @default.
• W1768565458 countsByYear W17685654582013 @default.
• W1768565458 countsByYear W17685654582014 @default.
• W1768565458 countsByYear W17685654582016 @default.
• W1768565458 countsByYear W17685654582017 @default.
• W1768565458 countsByYear W17685654582021 @default.
• W1768565458 crossrefType "journal-article" @default.
• W1768565458 hasAuthorship W1768565458A5026115088 @default.
• W1768565458 hasAuthorship W1768565458A5037764030 @default.
• W1768565458 hasAuthorship W1768565458A5042641044 @default.
• W1768565458 hasAuthorship W1768565458A5047402726 @default.
• W1768565458 hasAuthorship W1768565458A5050718731 @default.
• W1768565458 hasAuthorship W1768565458A5056072166 @default.
• W1768565458 hasAuthorship W1768565458A5070339219 @default.
• W1768565458 hasAuthorship W1768565458A5080351960 @default.
• W1768565458 hasConcept C104317684 @default.
• W1768565458 hasConcept C109825262 @default.
• W1768565458 hasConcept C127716648 @default.
• W1768565458 hasConcept C13514818 @default.
• W1768565458 hasConcept C142724271 @default.
• W1768565458 hasConcept C143065580 @default.
• W1768565458 hasConcept C150194340 @default.
• W1768565458 hasConcept C188997412 @default.
• W1768565458 hasConcept C2779869378 @default.
• W1768565458 hasConcept C2780299668 @default.
• W1768565458 hasConcept C2910325231 @default.
• W1768565458 hasConcept C501734568 @default.
• W1768565458 hasConcept C518705261 @default.
• W1768565458 hasConcept C54355233 @default.
• W1768565458 hasConcept C71924100 @default.
• W1768565458 hasConcept C75563809 @default.
• W1768565458 hasConcept C86803240 @default.
• W1768565458 hasConcept C96777560 @default.
• W1768565458 hasConceptScore W1768565458C104317684 @default.
• W1768565458 hasConceptScore W1768565458C109825262 @default.
• W1768565458 hasConceptScore W1768565458C127716648 @default.
• W1768565458 hasConceptScore W1768565458C13514818 @default.
• W1768565458 hasConceptScore W1768565458C142724271 @default.
• W1768565458 hasConceptScore W1768565458C143065580 @default.
• W1768565458 hasConceptScore W1768565458C150194340 @default.
• W1768565458 hasConceptScore W1768565458C188997412 @default.
• W1768565458 hasConceptScore W1768565458C2779869378 @default.
• W1768565458 hasConceptScore W1768565458C2780299668 @default.
• W1768565458 hasConceptScore W1768565458C2910325231 @default.
• W1768565458 hasConceptScore W1768565458C501734568 @default.
• W1768565458 hasConceptScore W1768565458C518705261 @default.
• W1768565458 hasConceptScore W1768565458C54355233 @default.
• W1768565458 hasConceptScore W1768565458C71924100 @default.
• W1768565458 hasConceptScore W1768565458C75563809 @default.
• W1768565458 hasConceptScore W1768565458C86803240 @default.
• W1768565458 hasConceptScore W1768565458C96777560 @default.
• W1768565458 hasIssue "6" @default.
• W1768565458 hasLocation W17685654581 @default.
• W1768565458 hasOpenAccess W1768565458 @default.
• W1768565458 hasPrimaryLocation W17685654581 @default.
• W1768565458 hasRelatedWork W1509445851 @default.
• W1768565458 hasRelatedWork W1836226415 @default.
• W1768565458 hasRelatedWork W1971291043 @default.
• W1768565458 hasRelatedWork W1974213575 @default.
• W1768565458 hasRelatedWork W1990384579 @default.
• W1768565458 hasRelatedWork W2003964060 @default.
• W1768565458 hasRelatedWork W2008669121 @default.
• W1768565458 hasRelatedWork W2010054905 @default.
• W1768565458 hasRelatedWork W2030464812 @default.
• W1768565458 hasRelatedWork W2034907136 @default.
• W1768565458 hasRelatedWork W2067085755 @default.
• W1768565458 hasRelatedWork W2073384700 @default.
• W1768565458 hasRelatedWork W2112809069 @default.
• W1768565458 hasRelatedWork W2117061251 @default.
• W1768565458 hasRelatedWork W2117518559 @default.
• W1768565458 hasRelatedWork W2124295853 @default.
• W1768565458 hasRelatedWork W2126255082 @default.
• W1768565458 hasRelatedWork W2133821573 @default.
• W1768565458 hasRelatedWork W2145893833 @default.
• W1768565458 hasRelatedWork W2155432860 @default.
• W1768565458 hasVolume "20" @default.
• W1768565458 isParatext "false" @default.
• W1768565458 isRetracted "false" @default.
• W1768565458 magId "1768565458" @default.

• next