FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2095112712> ?p ?o ?g. }

• W2095112712 endingPage "2236" @default.
• W2095112712 startingPage "2229" @default.
• W2095112712 abstract "Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in NRAS, BRAF, and Tp53 have been described in individual CMN samples; however, their role in the pathogenesis of multiple CMN within the same subject and development of associated features has not been clear. We hypothesized that a single postzygotic mutation in NRAS could be responsible for multiple CMN in the same individual, as well as for melanocytic and nonmelanocytic central nervous system (CNS) lesions. From 15 patients, 55 samples with multiple CMN were sequenced after site-directed mutagenesis and enzymatic digestion of the wild-type allele. Oncogenic missense mutations in codon 61 of NRAS were found in affected neurological and cutaneous tissues of 12 out of 15 patients, but were absent from unaffected tissues and blood, consistent with NRAS mutation mosaicism. In 10 patients, the mutation was consistently c.181C>A, p.Q61K, and in 2 patients c.182A>G, p.Q61R. All 11 non-melanocytic and melanocytic CNS samples from 5 patients were mutation positive, despite NRAS rarely being reported as mutated in CNS tumors. Loss of heterozygosity was associated with the onset of melanoma in two cases, implying a multistep progression to malignancy. These results suggest that single postzygotic NRAS mutations are responsible for multiple CMN and associated neurological lesions in the majority of cases." @default.
• W2095112712 created "2016-06-24" @default.
• W2095112712 creator A5001914883 @default.
• W2095112712 creator A5013335960 @default.
• W2095112712 creator A5013675331 @default.
• W2095112712 creator A5014431656 @default.
• W2095112712 creator A5016006212 @default.
• W2095112712 creator A5027779716 @default.
• W2095112712 creator A5028228166 @default.
• W2095112712 creator A5029633237 @default.
• W2095112712 creator A5037501835 @default.
• W2095112712 creator A5041110787 @default.
• W2095112712 creator A5048248154 @default.
• W2095112712 creator A5052688580 @default.
• W2095112712 creator A5055754672 @default.
• W2095112712 creator A5063272022 @default.
• W2095112712 creator A5069348053 @default.
• W2095112712 creator A5080825247 @default.
• W2095112712 creator A5091401005 @default.
• W2095112712 date "2013-09-01" @default.
• W2095112712 modified "2023-10-11" @default.
• W2095112712 title "Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS" @default.
• W2095112712 cites W1479747448 @default.
• W2095112712 cites W1545500462 @default.
• W2095112712 cites W1593769975 @default.
• W2095112712 cites W1945282519 @default.
• W2095112712 cites W1963847866 @default.
• W2095112712 cites W1966810184 @default.
• W2095112712 cites W1970527559 @default.
• W2095112712 cites W1972078821 @default.
• W2095112712 cites W1977874158 @default.
• W2095112712 cites W1996416026 @default.
• W2095112712 cites W1997094251 @default.
• W2095112712 cites W1999719530 @default.
• W2095112712 cites W2003834354 @default.
• W2095112712 cites W2005508652 @default.
• W2095112712 cites W2012318659 @default.
• W2095112712 cites W2012752131 @default.
• W2095112712 cites W2020672661 @default.
• W2095112712 cites W2028801837 @default.
• W2095112712 cites W2032008785 @default.
• W2095112712 cites W2032634177 @default.
• W2095112712 cites W2036904193 @default.
• W2095112712 cites W2037718500 @default.
• W2095112712 cites W2038504586 @default.
• W2095112712 cites W2045820236 @default.
• W2095112712 cites W2047401805 @default.
• W2095112712 cites W2049311151 @default.
• W2095112712 cites W2053722601 @default.
• W2095112712 cites W2058000142 @default.
• W2095112712 cites W2058219340 @default.
• W2095112712 cites W2059554984 @default.
• W2095112712 cites W2060162388 @default.
• W2095112712 cites W2060573548 @default.
• W2095112712 cites W2077567933 @default.
• W2095112712 cites W2078008703 @default.
• W2095112712 cites W2081435275 @default.
• W2095112712 cites W2085412766 @default.
• W2095112712 cites W2091765784 @default.
• W2095112712 cites W2093704091 @default.
• W2095112712 cites W2105735597 @default.
• W2095112712 cites W2108100369 @default.
• W2095112712 cites W2129400742 @default.
• W2095112712 cites W2147941657 @default.
• W2095112712 cites W2149546909 @default.
• W2095112712 cites W2150792360 @default.
• W2095112712 cites W2154790121 @default.
• W2095112712 cites W2164890061 @default.
• W2095112712 cites W2317427715 @default.
• W2095112712 cites W2335633931 @default.
• W2095112712 doi "https://doi.org/10.1038/jid.2013.70" @default.
• W2095112712 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3678977" @default.
• W2095112712 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23392294" @default.
• W2095112712 hasPublicationYear "2013" @default.
• W2095112712 type Work @default.
• W2095112712 sameAs 2095112712 @default.
• W2095112712 citedByCount "256" @default.
• W2095112712 countsByYear W20951127122013 @default.
• W2095112712 countsByYear W20951127122014 @default.
• W2095112712 countsByYear W20951127122015 @default.
• W2095112712 countsByYear W20951127122016 @default.
• W2095112712 countsByYear W20951127122017 @default.
• W2095112712 countsByYear W20951127122018 @default.
• W2095112712 countsByYear W20951127122019 @default.
• W2095112712 countsByYear W20951127122020 @default.
• W2095112712 countsByYear W20951127122021 @default.
• W2095112712 countsByYear W20951127122022 @default.
• W2095112712 countsByYear W20951127122023 @default.
• W2095112712 crossrefType "journal-article" @default.
• W2095112712 hasAuthorship W2095112712A5001914883 @default.
• W2095112712 hasAuthorship W2095112712A5013335960 @default.
• W2095112712 hasAuthorship W2095112712A5013675331 @default.
• W2095112712 hasAuthorship W2095112712A5014431656 @default.
• W2095112712 hasAuthorship W2095112712A5016006212 @default.
• W2095112712 hasAuthorship W2095112712A5027779716 @default.
• W2095112712 hasAuthorship W2095112712A5028228166 @default.
• W2095112712 hasAuthorship W2095112712A5029633237 @default.
• W2095112712 hasAuthorship W2095112712A5037501835 @default.

• next