FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1573861051> ?p ?o ?g. }

• W1573861051 endingPage "9" @default.
• W1573861051 startingPage "1022" @default.
• W1573861051 abstract "The gene for the hereditary disorder neurofibromatosis type 2 (NF2), which predisposes for benign CNS tumors such as vestibular schwannomas and meningiomas, has been assigned to chromosome 22 and recently has been isolated. Mutations in the NF2 gene were found in both sporadic meningiomas and vestibular schwannomas. However, so far only 6 of the 16 exons of the gene have been analyzed. In order to extend the analysis of an involvement of the NF2 gene in the sporadic counterparts of these NF2-related tumors, we have used reverse transcriptase-PCR amplification followed by SSCP and DNA sequence analysis to screen for mutations in the coding region of the NF2 gene. Analysis of the NF2 gene transcript in 53 unrelated patients with meningiomas and vestibular schwannomas revealed mutations in 32% of the sporadic meningiomas (n = 44), in 50% of the sporadic vestibular schwannomas (n = 4), in 100% of the tumors found in NF2 patients (n = 2), and in one of three tumors from multiple-meningioma patients. Of the 18 tumors in which a mutation in the NF2 gene transcript was observed and the copy number of chromosome 22 could be established, 14 also showed loss of (parts of) chromosome 22. This suggests that in sporadic meningiomas and NF2-associated tumors the NF2 gene functions as a recessive tumor-suppressor gene. The mutations detected resulted mostly in frameshifts, predicting truncations starting within the N-terminal half of the putative protein." @default.
• W1573861051 created "2016-06-24" @default.
• W1573861051 creator A5001416390 @default.
• W1573861051 creator A5012072301 @default.
• W1573861051 creator A5017632220 @default.
• W1573861051 creator A5027983512 @default.
• W1573861051 creator A5029869412 @default.
• W1573861051 creator A5030298684 @default.
• W1573861051 creator A5045615845 @default.
• W1573861051 creator A5047769764 @default.
• W1573861051 creator A5058955103 @default.
• W1573861051 creator A5084688380 @default.
• W1573861051 date "1994-06-01" @default.
• W1573861051 modified "2023-09-27" @default.
• W1573861051 title "Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas." @default.
• W1573861051 cites W1513141222 @default.
• W1573861051 cites W1757036739 @default.
• W1573861051 cites W1971421846 @default.
• W1573861051 cites W1972651910 @default.
• W1573861051 cites W1990580277 @default.
• W1573861051 cites W2006926223 @default.
• W1573861051 cites W2010965145 @default.
• W1573861051 cites W2029976610 @default.
• W1573861051 cites W2054038362 @default.
• W1573861051 cites W2060333964 @default.
• W1573861051 cites W2071456395 @default.
• W1573861051 cites W2077858999 @default.
• W1573861051 cites W2083625623 @default.
• W1573861051 cites W2090040363 @default.
• W1573861051 cites W2090369455 @default.
• W1573861051 cites W2121978023 @default.
• W1573861051 cites W2154840445 @default.
• W1573861051 cites W2155035604 @default.
• W1573861051 cites W2161807488 @default.
• W1573861051 cites W2167685527 @default.
• W1573861051 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1918179" @default.
• W1573861051 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7911002" @default.
• W1573861051 hasPublicationYear "1994" @default.
• W1573861051 type Work @default.
• W1573861051 sameAs 1573861051 @default.
• W1573861051 citedByCount "48" @default.
• W1573861051 countsByYear W15738610512014 @default.
• W1573861051 countsByYear W15738610512016 @default.
• W1573861051 countsByYear W15738610512019 @default.
• W1573861051 countsByYear W15738610512020 @default.
• W1573861051 countsByYear W15738610512021 @default.
• W1573861051 countsByYear W15738610512022 @default.
• W1573861051 countsByYear W15738610512023 @default.
• W1573861051 crossrefType "journal-article" @default.
• W1573861051 hasAuthorship W1573861051A5001416390 @default.
• W1573861051 hasAuthorship W1573861051A5012072301 @default.
• W1573861051 hasAuthorship W1573861051A5017632220 @default.
• W1573861051 hasAuthorship W1573861051A5027983512 @default.
• W1573861051 hasAuthorship W1573861051A5029869412 @default.
• W1573861051 hasAuthorship W1573861051A5030298684 @default.
• W1573861051 hasAuthorship W1573861051A5045615845 @default.
• W1573861051 hasAuthorship W1573861051A5047769764 @default.
• W1573861051 hasAuthorship W1573861051A5058955103 @default.
• W1573861051 hasAuthorship W1573861051A5084688380 @default.
• W1573861051 hasConcept C104317684 @default.
• W1573861051 hasConcept C142724271 @default.
• W1573861051 hasConcept C153911025 @default.
• W1573861051 hasConcept C2778264664 @default.
• W1573861051 hasConcept C2778679214 @default.
• W1573861051 hasConcept C2778984943 @default.
• W1573861051 hasConcept C2779160599 @default.
• W1573861051 hasConcept C2994225774 @default.
• W1573861051 hasConcept C30481170 @default.
• W1573861051 hasConcept C36823959 @default.
• W1573861051 hasConcept C501734568 @default.
• W1573861051 hasConcept C54355233 @default.
• W1573861051 hasConcept C54815482 @default.
• W1573861051 hasConcept C555283112 @default.
• W1573861051 hasConcept C71924100 @default.
• W1573861051 hasConcept C75563809 @default.
• W1573861051 hasConcept C86803240 @default.
• W1573861051 hasConcept C96777560 @default.
• W1573861051 hasConceptScore W1573861051C104317684 @default.
• W1573861051 hasConceptScore W1573861051C142724271 @default.
• W1573861051 hasConceptScore W1573861051C153911025 @default.
• W1573861051 hasConceptScore W1573861051C2778264664 @default.
• W1573861051 hasConceptScore W1573861051C2778679214 @default.
• W1573861051 hasConceptScore W1573861051C2778984943 @default.
• W1573861051 hasConceptScore W1573861051C2779160599 @default.
• W1573861051 hasConceptScore W1573861051C2994225774 @default.
• W1573861051 hasConceptScore W1573861051C30481170 @default.
• W1573861051 hasConceptScore W1573861051C36823959 @default.
• W1573861051 hasConceptScore W1573861051C501734568 @default.
• W1573861051 hasConceptScore W1573861051C54355233 @default.
• W1573861051 hasConceptScore W1573861051C54815482 @default.
• W1573861051 hasConceptScore W1573861051C555283112 @default.
• W1573861051 hasConceptScore W1573861051C71924100 @default.
• W1573861051 hasConceptScore W1573861051C75563809 @default.
• W1573861051 hasConceptScore W1573861051C86803240 @default.
• W1573861051 hasConceptScore W1573861051C96777560 @default.
• W1573861051 hasIssue "6" @default.
• W1573861051 hasLocation W15738610511 @default.
• W1573861051 hasOpenAccess W1573861051 @default.

• next