FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2327785549> ?p ?o ?g. }

• W2327785549 abstract "A re-examination has been carried out of the region on chromosome 9 containing the locus responsible for Ferguson-Smith disease, or multiple self-healing squamous epithelioma (MSSE/FSD); this is a rare autosomal dominant inherited condition first identified in the west of Scotland, that presents with multiple squamous cell skin carcinomas which grow, invade locally and then spontaneously regress. Approach: A 4Mb locus on chromosome 9 was earlier identified by genetic mapping in a cluster of families. In this study a wider region encompassing 24Mb around this earlier identified locus was examined using high-throughput sequencing with exon capture, followed by Sanger sequencing. Result: This effort identified mutations in the TGFBR1 gene in 18 out of 22 families diagnosed as affected by MSSE/FSD. These include 11 different mutations. The tumours occur in sun-exposed areas of the skin, and loss-of-heterozygosity in tumours is frequently seen. The sequence variants disturb the function of the TGFβRI receptor such that although heterozygous carriers are asymptomatic during development, loss of the second (wild-type) allele ablates the receptor function and leads to local cancer susceptibility. Conclusions: The nature of the mutations sets the mechanism apart from that involved in Marfan syndrome-related disorders, in which developmental defects in vasculature are also caused by mutations in this gene. The involvement of TGFβ receptors in this condition is intriguing as TGFβ pathway effects are known to be biphasic and opposing at different stages of cancer development. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 102nd Annual Meeting of the American Association for Cancer Research; 2011 Apr 2-6; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2011;71(8 Suppl):Abstract nr LB-245. doi:10.1158/1538-7445.AM2011-LB-245" @default.
• W2327785549 created "2016-06-24" @default.
• W2327785549 creator A5001135569 @default.
• W2327785549 creator A5001818255 @default.
• W2327785549 creator A5014723151 @default.
• W2327785549 creator A5016586166 @default.
• W2327785549 creator A5017326359 @default.
• W2327785549 creator A5029498861 @default.
• W2327785549 creator A5035455769 @default.
• W2327785549 creator A5037480913 @default.
• W2327785549 creator A5040984959 @default.
• W2327785549 creator A5045760818 @default.
• W2327785549 creator A5050971608 @default.
• W2327785549 creator A5051382148 @default.
• W2327785549 creator A5057121885 @default.
• W2327785549 creator A5060848762 @default.
• W2327785549 creator A5062630040 @default.
• W2327785549 creator A5062797565 @default.
• W2327785549 creator A5067302780 @default.
• W2327785549 creator A5068755951 @default.
• W2327785549 creator A5069489430 @default.
• W2327785549 creator A5073896107 @default.
• W2327785549 creator A5083420672 @default.
• W2327785549 creator A5089465238 @default.
• W2327785549 creator A5090696492 @default.
• W2327785549 date "2011-04-15" @default.
• W2327785549 modified "2023-09-22" @default.
• W2327785549 title "Abstract LB-245: Loss of function of the TGFβRI receptor leads to the spontaneously regressing squamous carcinoma condition, multiple self-healing squamous epithelioma (Ferguson-Smith disease)" @default.
• W2327785549 doi "https://doi.org/10.1158/1538-7445.am2011-lb-245" @default.
• W2327785549 hasPublicationYear "2011" @default.
• W2327785549 type Work @default.
• W2327785549 sameAs 2327785549 @default.
• W2327785549 citedByCount "0" @default.
• W2327785549 crossrefType "proceedings-article" @default.
• W2327785549 hasAuthorship W2327785549A5001135569 @default.
• W2327785549 hasAuthorship W2327785549A5001818255 @default.
• W2327785549 hasAuthorship W2327785549A5014723151 @default.
• W2327785549 hasAuthorship W2327785549A5016586166 @default.
• W2327785549 hasAuthorship W2327785549A5017326359 @default.
• W2327785549 hasAuthorship W2327785549A5029498861 @default.
• W2327785549 hasAuthorship W2327785549A5035455769 @default.
• W2327785549 hasAuthorship W2327785549A5037480913 @default.
• W2327785549 hasAuthorship W2327785549A5040984959 @default.
• W2327785549 hasAuthorship W2327785549A5045760818 @default.
• W2327785549 hasAuthorship W2327785549A5050971608 @default.
• W2327785549 hasAuthorship W2327785549A5051382148 @default.
• W2327785549 hasAuthorship W2327785549A5057121885 @default.
• W2327785549 hasAuthorship W2327785549A5060848762 @default.
• W2327785549 hasAuthorship W2327785549A5062630040 @default.
• W2327785549 hasAuthorship W2327785549A5062797565 @default.
• W2327785549 hasAuthorship W2327785549A5067302780 @default.
• W2327785549 hasAuthorship W2327785549A5068755951 @default.
• W2327785549 hasAuthorship W2327785549A5069489430 @default.
• W2327785549 hasAuthorship W2327785549A5073896107 @default.
• W2327785549 hasAuthorship W2327785549A5083420672 @default.
• W2327785549 hasAuthorship W2327785549A5089465238 @default.
• W2327785549 hasAuthorship W2327785549A5090696492 @default.
• W2327785549 hasConcept C104317684 @default.
• W2327785549 hasConcept C142724271 @default.
• W2327785549 hasConcept C143589142 @default.
• W2327785549 hasConcept C180754005 @default.
• W2327785549 hasConcept C2777546739 @default.
• W2327785549 hasConcept C2994491419 @default.
• W2327785549 hasConcept C36823959 @default.
• W2327785549 hasConcept C501734568 @default.
• W2327785549 hasConcept C502942594 @default.
• W2327785549 hasConcept C54355233 @default.
• W2327785549 hasConcept C71924100 @default.
• W2327785549 hasConcept C76818968 @default.
• W2327785549 hasConcept C84597430 @default.
• W2327785549 hasConcept C86803240 @default.
• W2327785549 hasConceptScore W2327785549C104317684 @default.
• W2327785549 hasConceptScore W2327785549C142724271 @default.
• W2327785549 hasConceptScore W2327785549C143589142 @default.
• W2327785549 hasConceptScore W2327785549C180754005 @default.
• W2327785549 hasConceptScore W2327785549C2777546739 @default.
• W2327785549 hasConceptScore W2327785549C2994491419 @default.
• W2327785549 hasConceptScore W2327785549C36823959 @default.
• W2327785549 hasConceptScore W2327785549C501734568 @default.
• W2327785549 hasConceptScore W2327785549C502942594 @default.
• W2327785549 hasConceptScore W2327785549C54355233 @default.
• W2327785549 hasConceptScore W2327785549C71924100 @default.
• W2327785549 hasConceptScore W2327785549C76818968 @default.
• W2327785549 hasConceptScore W2327785549C84597430 @default.
• W2327785549 hasConceptScore W2327785549C86803240 @default.
• W2327785549 hasLocation W23277855491 @default.
• W2327785549 hasOpenAccess W2327785549 @default.
• W2327785549 hasPrimaryLocation W23277855491 @default.
• W2327785549 hasRelatedWork W1486924466 @default.
• W2327785549 hasRelatedWork W1535140231 @default.
• W2327785549 hasRelatedWork W1938299812 @default.
• W2327785549 hasRelatedWork W1966302635 @default.
• W2327785549 hasRelatedWork W1988815880 @default.
• W2327785549 hasRelatedWork W2009815412 @default.
• W2327785549 hasRelatedWork W2026049920 @default.
• W2327785549 hasRelatedWork W2050668424 @default.
• W2327785549 hasRelatedWork W2060812709 @default.
• W2327785549 hasRelatedWork W2062640178 @default.
• W2327785549 hasRelatedWork W2080988586 @default.
• W2327785549 hasRelatedWork W2156176929 @default.

• next