FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2017030320> ?p ?o ?g. }

• W2017030320 endingPage "E111" @default.
• W2017030320 startingPage "E103" @default.
• W2017030320 abstract "Neurofibromatosis type 1 (NF1), a common autosomal dominant neurogenetic disorder affecting 1 in 4000 individuals worldwide, results from functional inactivation of the 17q11.2-located NF1 gene. Plexiform neurofibroma (PNF) is a congenital benign tumour present in 30-50% of NF1 patients, which in about 10-15% of cases, can develop into a malignant peripheral nerve sheath tumour (MPNST). This study aimed to characterise the NF1 germline and somatic mutations associated with such tumours by DNA analysis in 51 PNFs resected from 44 unrelated NF1 patients. Germline mutations were identified in 35 patients, of which 21 were novel. Somatic NF1 mutations were found in 29 PNF DNAs, which included 9 point mutations, 5 being novel, and 20 tumour DNA samples exhibiting, either loss of heterozygosity (LOH) of the NF1 gene region (16 tumours), or complete or partial NF1 gene deletions analyzed by multiplex ligation-dependent probe amplification (MPLA) analysis. The type of NF1 germline mutations detected in patients with PNF were similar to those detected in most NF1 patients. LOH of the NF1 gene region, as identified by marker analysis and/or MLPA, was detected in only 20/29 (69%) PNFs, compared to the >90% LOH previously found in MPNST. This systematic analysis of the NF1 germline and somatic mutations associated with PNF development suggest that in most such tumours neither the NF1 somatic mutation type, nor its gene location, is influenced by the underlying NF1 germline mutation. Evidence for LOH involving the TP53 gene identified in the PNFs is also reported for the first time." @default.
• W2017030320 created "2016-06-24" @default.
• W2017030320 creator A5009672080 @default.
• W2017030320 creator A5025708895 @default.
• W2017030320 creator A5033017301 @default.
• W2017030320 creator A5037210081 @default.
• W2017030320 creator A5042325315 @default.
• W2017030320 creator A5078569915 @default.
• W2017030320 creator A5080840817 @default.
• W2017030320 date "2008-08-01" @default.
• W2017030320 modified "2023-10-16" @default.
• W2017030320 title "Germline and somatic<i>NF1</i>gene mutations in plexiform neurofibromas" @default.
• W2017030320 cites W1530640811 @default.
• W2017030320 cites W1604072687 @default.
• W2017030320 cites W1977197767 @default.
• W2017030320 cites W1981287665 @default.
• W2017030320 cites W1982646874 @default.
• W2017030320 cites W1987616416 @default.
• W2017030320 cites W1990750977 @default.
• W2017030320 cites W1997887695 @default.
• W2017030320 cites W2027360465 @default.
• W2017030320 cites W2028027936 @default.
• W2017030320 cites W2032346608 @default.
• W2017030320 cites W2044292902 @default.
• W2017030320 cites W2044724485 @default.
• W2017030320 cites W2045587342 @default.
• W2017030320 cites W2050644288 @default.
• W2017030320 cites W2050724926 @default.
• W2017030320 cites W2054549064 @default.
• W2017030320 cites W2054902030 @default.
• W2017030320 cites W2055729102 @default.
• W2017030320 cites W2069886811 @default.
• W2017030320 cites W2082002047 @default.
• W2017030320 cites W2083529063 @default.
• W2017030320 cites W2097794378 @default.
• W2017030320 cites W2103680803 @default.
• W2017030320 cites W2128014524 @default.
• W2017030320 cites W2130697192 @default.
• W2017030320 cites W2131532433 @default.
• W2017030320 cites W2133043492 @default.
• W2017030320 cites W2133927414 @default.
• W2017030320 cites W2137036286 @default.
• W2017030320 cites W2171204021 @default.
• W2017030320 doi "https://doi.org/10.1002/humu.20793" @default.
• W2017030320 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18484666" @default.
• W2017030320 hasPublicationYear "2008" @default.
• W2017030320 type Work @default.
• W2017030320 sameAs 2017030320 @default.
• W2017030320 citedByCount "49" @default.
• W2017030320 countsByYear W20170303202012 @default.
• W2017030320 countsByYear W20170303202013 @default.
• W2017030320 countsByYear W20170303202014 @default.
• W2017030320 countsByYear W20170303202015 @default.
• W2017030320 countsByYear W20170303202016 @default.
• W2017030320 countsByYear W20170303202017 @default.
• W2017030320 countsByYear W20170303202018 @default.
• W2017030320 countsByYear W20170303202019 @default.
• W2017030320 countsByYear W20170303202020 @default.
• W2017030320 countsByYear W20170303202021 @default.
• W2017030320 countsByYear W20170303202022 @default.
• W2017030320 countsByYear W20170303202023 @default.
• W2017030320 crossrefType "journal-article" @default.
• W2017030320 hasAuthorship W2017030320A5009672080 @default.
• W2017030320 hasAuthorship W2017030320A5025708895 @default.
• W2017030320 hasAuthorship W2017030320A5033017301 @default.
• W2017030320 hasAuthorship W2017030320A5037210081 @default.
• W2017030320 hasAuthorship W2017030320A5042325315 @default.
• W2017030320 hasAuthorship W2017030320A5078569915 @default.
• W2017030320 hasAuthorship W2017030320A5080840817 @default.
• W2017030320 hasBestOaLocation W20170303201 @default.
• W2017030320 hasConcept C104317684 @default.
• W2017030320 hasConcept C109825262 @default.
• W2017030320 hasConcept C120599132 @default.
• W2017030320 hasConcept C134305767 @default.
• W2017030320 hasConcept C13514818 @default.
• W2017030320 hasConcept C143589142 @default.
• W2017030320 hasConcept C153911025 @default.
• W2017030320 hasConcept C170932241 @default.
• W2017030320 hasConcept C176944494 @default.
• W2017030320 hasConcept C180754005 @default.
• W2017030320 hasConcept C2777831590 @default.
• W2017030320 hasConcept C2778102573 @default.
• W2017030320 hasConcept C2778984943 @default.
• W2017030320 hasConcept C29906990 @default.
• W2017030320 hasConcept C36823959 @default.
• W2017030320 hasConcept C48720390 @default.
• W2017030320 hasConcept C501734568 @default.
• W2017030320 hasConcept C502942594 @default.
• W2017030320 hasConcept C54355233 @default.
• W2017030320 hasConcept C86803240 @default.
• W2017030320 hasConceptScore W2017030320C104317684 @default.
• W2017030320 hasConceptScore W2017030320C109825262 @default.
• W2017030320 hasConceptScore W2017030320C120599132 @default.
• W2017030320 hasConceptScore W2017030320C134305767 @default.
• W2017030320 hasConceptScore W2017030320C13514818 @default.
• W2017030320 hasConceptScore W2017030320C143589142 @default.
• W2017030320 hasConceptScore W2017030320C153911025 @default.
• W2017030320 hasConceptScore W2017030320C170932241 @default.

• next