FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3020794529> ?p ?o ?g. }

• W3020794529 abstract "Atypical parathyroid adenoma is a rare neoplasm, showing atypical histological features intermediate between classic benign adenoma and the rarest parathyroid carcinoma, whose the clinical behaviour and outcome is not yet understood or predictable. Up to date only two cases of atypical adenoma were found associated to a MEN1 syndrome, and only one was proved to carry a pathogenic variant of the MEN1 gene.We report the clinical, histologic, and molecular findings of a 44-year-old woman, presenting with a histologically proved atypical parathyroid adenoma with an apparent aggressive behaviour.CDC73 gene was screened at germline and somatic levels with no results. Whole exome sequencing performed on DNA extracted from blood leukocytes and tumour tissue revealed a somatic MEN1 gene heterozygous variant, c.912+1G > A, of the splicing donor site of exon 6. On immunohistochemistry, downregulation of the menin protein expression in the neoplastic cells was also observed.We report the second case of a rare association of a somatic MEN1 gene mutation in a patient with atypical parathyroid adenoma. We suggest that MEN1 gene could be an underestimate genetic determinant of these rare histological entities, and we highlight the utility of a complete genetic screening protocol, by the use of next-generation sequencing technology in such undetermined clinical cases with no frank clinical presentation." @default.
• W3020794529 created "2020-05-01" @default.
• W3020794529 creator A5014307857 @default.
• W3020794529 creator A5017932575 @default.
• W3020794529 creator A5022257092 @default.
• W3020794529 creator A5027097465 @default.
• W3020794529 creator A5038724562 @default.
• W3020794529 creator A5039259142 @default.
• W3020794529 creator A5049734360 @default.
• W3020794529 creator A5051511165 @default.
• W3020794529 creator A5055336226 @default.
• W3020794529 creator A5061311286 @default.
• W3020794529 creator A5071336377 @default.
• W3020794529 creator A5079244898 @default.
• W3020794529 creator A5085352023 @default.
• W3020794529 date "2020-04-27" @default.
• W3020794529 modified "2023-09-27" @default.
• W3020794529 title "Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma" @default.
• W3020794529 cites W1989146112 @default.
• W3020794529 cites W1997641838 @default.
• W3020794529 cites W2005341353 @default.
• W3020794529 cites W2078062201 @default.
• W3020794529 cites W2115054276 @default.
• W3020794529 cites W2117513049 @default.
• W3020794529 cites W2124645214 @default.
• W3020794529 cites W2131756425 @default.
• W3020794529 cites W2147037681 @default.
• W3020794529 cites W2171395146 @default.
• W3020794529 cites W2347036992 @default.
• W3020794529 cites W2405576589 @default.
• W3020794529 cites W2599486266 @default.
• W3020794529 cites W2750870647 @default.
• W3020794529 cites W2766921292 @default.
• W3020794529 cites W2796642127 @default.
• W3020794529 cites W2801333295 @default.
• W3020794529 cites W2901943656 @default.
• W3020794529 cites W2945220277 @default.
• W3020794529 cites W2958922334 @default.
• W3020794529 cites W4211249087 @default.
• W3020794529 cites W4245189533 @default.
• W3020794529 doi "https://doi.org/10.1155/2020/2080797" @default.
• W3020794529 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7201480" @default.
• W3020794529 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32411220" @default.
• W3020794529 hasPublicationYear "2020" @default.
• W3020794529 type Work @default.
• W3020794529 sameAs 3020794529 @default.
• W3020794529 citedByCount "2" @default.
• W3020794529 countsByYear W30207945292019 @default.
• W3020794529 countsByYear W30207945292021 @default.
• W3020794529 crossrefType "journal-article" @default.
• W3020794529 hasAuthorship W3020794529A5014307857 @default.
• W3020794529 hasAuthorship W3020794529A5017932575 @default.
• W3020794529 hasAuthorship W3020794529A5022257092 @default.
• W3020794529 hasAuthorship W3020794529A5027097465 @default.
• W3020794529 hasAuthorship W3020794529A5038724562 @default.
• W3020794529 hasAuthorship W3020794529A5039259142 @default.
• W3020794529 hasAuthorship W3020794529A5049734360 @default.
• W3020794529 hasAuthorship W3020794529A5051511165 @default.
• W3020794529 hasAuthorship W3020794529A5055336226 @default.
• W3020794529 hasAuthorship W3020794529A5061311286 @default.
• W3020794529 hasAuthorship W3020794529A5071336377 @default.
• W3020794529 hasAuthorship W3020794529A5079244898 @default.
• W3020794529 hasAuthorship W3020794529A5085352023 @default.
• W3020794529 hasBestOaLocation W30207945291 @default.
• W3020794529 hasConcept C104317684 @default.
• W3020794529 hasConcept C134305767 @default.
• W3020794529 hasConcept C13514818 @default.
• W3020794529 hasConcept C142724271 @default.
• W3020794529 hasConcept C2777428134 @default.
• W3020794529 hasConcept C2777546739 @default.
• W3020794529 hasConcept C2777919317 @default.
• W3020794529 hasConcept C2779318953 @default.
• W3020794529 hasConcept C2779469564 @default.
• W3020794529 hasConcept C2780103800 @default.
• W3020794529 hasConcept C2780273267 @default.
• W3020794529 hasConcept C2994225774 @default.
• W3020794529 hasConcept C36823959 @default.
• W3020794529 hasConcept C501734568 @default.
• W3020794529 hasConcept C502942594 @default.
• W3020794529 hasConcept C54355233 @default.
• W3020794529 hasConcept C71924100 @default.
• W3020794529 hasConcept C86803240 @default.
• W3020794529 hasConceptScore W3020794529C104317684 @default.
• W3020794529 hasConceptScore W3020794529C134305767 @default.
• W3020794529 hasConceptScore W3020794529C13514818 @default.
• W3020794529 hasConceptScore W3020794529C142724271 @default.
• W3020794529 hasConceptScore W3020794529C2777428134 @default.
• W3020794529 hasConceptScore W3020794529C2777546739 @default.
• W3020794529 hasConceptScore W3020794529C2777919317 @default.
• W3020794529 hasConceptScore W3020794529C2779318953 @default.
• W3020794529 hasConceptScore W3020794529C2779469564 @default.
• W3020794529 hasConceptScore W3020794529C2780103800 @default.
• W3020794529 hasConceptScore W3020794529C2780273267 @default.
• W3020794529 hasConceptScore W3020794529C2994225774 @default.
• W3020794529 hasConceptScore W3020794529C36823959 @default.
• W3020794529 hasConceptScore W3020794529C501734568 @default.
• W3020794529 hasConceptScore W3020794529C502942594 @default.
• W3020794529 hasConceptScore W3020794529C54355233 @default.
• W3020794529 hasConceptScore W3020794529C71924100 @default.
• W3020794529 hasConceptScore W3020794529C86803240 @default.

• next