FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385422998> ?p ?o ?g. }

• W4385422998 endingPage "12154" @default.
• W4385422998 startingPage "12154" @default.
• W4385422998 abstract "Plexiform neurofibromas occurring in approximately 20-50% of all neurofibromatosis type-1 (NF1) cases are histologically benign tumors, but they can be fatal due to compression of vital structures or transformation to malignant sarcomas or malignant peripheral nerve sheath tumors. All sizeable plexiform neurofibromas are thought to result from an early second mutation giving rise to a loss of heterozygosity of the NF1 gene. In this unusual case, a 12-year-old girl presented with a rapidly growing, extremely extensive plexiform neurofibroma with segmental distribution over the entire right arm, extending to the right chest wall and mediastinum, superimposed on classic cutaneous lesions of NF1. After several surgical interventions, the patient was efficiently treated with an oral selective MEK inhibitor, selumetinib, which resulted in a rapid reduction of the tumor volume. Molecular analysis of the NF1 gene revealed a c.2326-2 A>G splice-site mutation in the clinically unaffected skin, peripheral blood sample, and plexiform neurofibroma, which explains the general clinical symptoms. Furthermore, a novel likely pathogenic variant, c.4933dupC (p.Leu1645Profs*7), has been identified exclusively in the girl's plexiform neurofibromas. This second-hit mutation can explain the extremely extensive segmental involvement." @default.
• W4385422998 created "2023-08-01" @default.
• W4385422998 creator A5002019310 @default.
• W4385422998 creator A5006164583 @default.
• W4385422998 creator A5049414926 @default.
• W4385422998 creator A5051401634 @default.
• W4385422998 creator A5074053679 @default.
• W4385422998 creator A5076611539 @default.
• W4385422998 creator A5080430923 @default.
• W4385422998 creator A5081195488 @default.
• W4385422998 date "2023-07-29" @default.
• W4385422998 modified "2023-10-16" @default.
• W4385422998 title "Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene" @default.
• W4385422998 cites W1986592256 @default.
• W4385422998 cites W1987956240 @default.
• W4385422998 cites W1996714429 @default.
• W4385422998 cites W2017030320 @default.
• W4385422998 cites W2017569500 @default.
• W4385422998 cites W2023541575 @default.
• W4385422998 cites W2050724926 @default.
• W4385422998 cites W2061993815 @default.
• W4385422998 cites W2077858999 @default.
• W4385422998 cites W2081225293 @default.
• W4385422998 cites W2092864149 @default.
• W4385422998 cites W2115256241 @default.
• W4385422998 cites W2127650955 @default.
• W4385422998 cites W2131882312 @default.
• W4385422998 cites W2132188293 @default.
• W4385422998 cites W2211600733 @default.
• W4385422998 cites W2475426533 @default.
• W4385422998 cites W2568969101 @default.
• W4385422998 cites W2597673873 @default.
• W4385422998 cites W2807657408 @default.
• W4385422998 cites W3024513346 @default.
• W4385422998 cites W3042252523 @default.
• W4385422998 cites W3047234385 @default.
• W4385422998 cites W3163203868 @default.
• W4385422998 cites W3179997371 @default.
• W4385422998 cites W3201029983 @default.
• W4385422998 cites W4200141942 @default.
• W4385422998 cites W4252517580 @default.
• W4385422998 cites W4281919730 @default.
• W4385422998 cites W4296251721 @default.
• W4385422998 cites W4306173610 @default.
• W4385422998 cites W4323253218 @default.
• W4385422998 cites W4323653744 @default.
• W4385422998 cites W4379376943 @default.
• W4385422998 cites W4380991415 @default.
• W4385422998 doi "https://doi.org/10.3390/ijms241512154" @default.
• W4385422998 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37569527" @default.
• W4385422998 hasPublicationYear "2023" @default.
• W4385422998 type Work @default.
• W4385422998 citedByCount "0" @default.
• W4385422998 crossrefType "journal-article" @default.
• W4385422998 hasAuthorship W4385422998A5002019310 @default.
• W4385422998 hasAuthorship W4385422998A5006164583 @default.
• W4385422998 hasAuthorship W4385422998A5049414926 @default.
• W4385422998 hasAuthorship W4385422998A5051401634 @default.
• W4385422998 hasAuthorship W4385422998A5074053679 @default.
• W4385422998 hasAuthorship W4385422998A5076611539 @default.
• W4385422998 hasAuthorship W4385422998A5080430923 @default.
• W4385422998 hasAuthorship W4385422998A5081195488 @default.
• W4385422998 hasBestOaLocation W43854229981 @default.
• W4385422998 hasConcept C104317684 @default.
• W4385422998 hasConcept C142724271 @default.
• W4385422998 hasConcept C143589142 @default.
• W4385422998 hasConcept C180754005 @default.
• W4385422998 hasConcept C2777831590 @default.
• W4385422998 hasConcept C2778102573 @default.
• W4385422998 hasConcept C2778984943 @default.
• W4385422998 hasConcept C2910078708 @default.
• W4385422998 hasConcept C502942594 @default.
• W4385422998 hasConcept C54355233 @default.
• W4385422998 hasConcept C71924100 @default.
• W4385422998 hasConcept C86803240 @default.
• W4385422998 hasConceptScore W4385422998C104317684 @default.
• W4385422998 hasConceptScore W4385422998C142724271 @default.
• W4385422998 hasConceptScore W4385422998C143589142 @default.
• W4385422998 hasConceptScore W4385422998C180754005 @default.
• W4385422998 hasConceptScore W4385422998C2777831590 @default.
• W4385422998 hasConceptScore W4385422998C2778102573 @default.
• W4385422998 hasConceptScore W4385422998C2778984943 @default.
• W4385422998 hasConceptScore W4385422998C2910078708 @default.
• W4385422998 hasConceptScore W4385422998C502942594 @default.
• W4385422998 hasConceptScore W4385422998C54355233 @default.
• W4385422998 hasConceptScore W4385422998C71924100 @default.
• W4385422998 hasConceptScore W4385422998C86803240 @default.
• W4385422998 hasFunder F4320322193 @default.
• W4385422998 hasIssue "15" @default.
• W4385422998 hasLocation W43854229981 @default.
• W4385422998 hasLocation W43854229982 @default.
• W4385422998 hasOpenAccess W4385422998 @default.
• W4385422998 hasPrimaryLocation W43854229981 @default.
• W4385422998 hasRelatedWork W1524188866 @default.
• W4385422998 hasRelatedWork W196372489 @default.
• W4385422998 hasRelatedWork W1982646874 @default.
• W4385422998 hasRelatedWork W1983100929 @default.
• W4385422998 hasRelatedWork W2050644288 @default.

• next