FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2043029802> ?p ?o ?g. }

• W2043029802 endingPage "2167" @default.
• W2043029802 startingPage "2162" @default.
• W2043029802 abstract "Lynch syndrome is caused by germline mutations in 1 of the 4 DNA mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). Mutations in MSH2 cause concomitant loss of hMSH6, whereas MLH1 mutations lead to concurrent loss of PMS2. Much less frequent mutations in MSH6 or PMS2 are associated with the isolated loss of the corresponding proteins. We here demonstrate the causative role of the first germline mutation of MSH2, c.1249-1251 dupGTT (p.417V-418I dupV), associated with normal hMSH2 expression and lack of hMSH6 protein despite a normal MSH6 gene sequence. hMSH6 protein was completely lost only in advanced cancer stages due to 2 different second hits: a whole MSH2 gene deletion and a frame-shifting insertion in the MSH6 (C)8 repeat in the coding sequence." @default.
• W2043029802 created "2016-06-24" @default.
• W2043029802 creator A5005606001 @default.
• W2043029802 creator A5036314401 @default.
• W2043029802 creator A5039284802 @default.
• W2043029802 creator A5045327100 @default.
• W2043029802 creator A5046416568 @default.
• W2043029802 creator A5046910307 @default.
• W2043029802 creator A5048973625 @default.
• W2043029802 creator A5053318866 @default.
• W2043029802 creator A5058191614 @default.
• W2043029802 creator A5062372222 @default.
• W2043029802 creator A5062443038 @default.
• W2043029802 creator A5070462317 @default.
• W2043029802 date "2014-10-01" @default.
• W2043029802 modified "2023-10-16" @default.
• W2043029802 title "A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage" @default.
• W2043029802 cites W1909041588 @default.
• W2043029802 cites W1989413259 @default.
• W2043029802 cites W2022778764 @default.
• W2043029802 cites W2031479919 @default.
• W2043029802 cites W2047542855 @default.
• W2043029802 cites W2067603408 @default.
• W2043029802 cites W2081993522 @default.
• W2043029802 cites W2083022629 @default.
• W2043029802 cites W2100843807 @default.
• W2043029802 cites W2107452713 @default.
• W2043029802 cites W2110863368 @default.
• W2043029802 cites W2146288972 @default.
• W2043029802 cites W2147366336 @default.
• W2043029802 cites W2159899668 @default.
• W2043029802 cites W2160759097 @default.
• W2043029802 cites W2163560501 @default.
• W2043029802 cites W2170959439 @default.
• W2043029802 doi "https://doi.org/10.1016/j.humpath.2014.05.019" @default.
• W2043029802 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25106712" @default.
• W2043029802 hasPublicationYear "2014" @default.
• W2043029802 type Work @default.
• W2043029802 sameAs 2043029802 @default.
• W2043029802 citedByCount "5" @default.
• W2043029802 countsByYear W20430298022014 @default.
• W2043029802 countsByYear W20430298022015 @default.
• W2043029802 countsByYear W20430298022017 @default.
• W2043029802 countsByYear W20430298022019 @default.
• W2043029802 countsByYear W20430298022020 @default.
• W2043029802 crossrefType "journal-article" @default.
• W2043029802 hasAuthorship W2043029802A5005606001 @default.
• W2043029802 hasAuthorship W2043029802A5036314401 @default.
• W2043029802 hasAuthorship W2043029802A5039284802 @default.
• W2043029802 hasAuthorship W2043029802A5045327100 @default.
• W2043029802 hasAuthorship W2043029802A5046416568 @default.
• W2043029802 hasAuthorship W2043029802A5046910307 @default.
• W2043029802 hasAuthorship W2043029802A5048973625 @default.
• W2043029802 hasAuthorship W2043029802A5053318866 @default.
• W2043029802 hasAuthorship W2043029802A5058191614 @default.
• W2043029802 hasAuthorship W2043029802A5062372222 @default.
• W2043029802 hasAuthorship W2043029802A5062443038 @default.
• W2043029802 hasAuthorship W2043029802A5070462317 @default.
• W2043029802 hasConcept C104317684 @default.
• W2043029802 hasConcept C111425858 @default.
• W2043029802 hasConcept C134935766 @default.
• W2043029802 hasConcept C13514818 @default.
• W2043029802 hasConcept C2776559941 @default.
• W2043029802 hasConcept C2776674815 @default.
• W2043029802 hasConcept C2778677574 @default.
• W2043029802 hasConcept C2779115348 @default.
• W2043029802 hasConcept C29906990 @default.
• W2043029802 hasConcept C501734568 @default.
• W2043029802 hasConcept C502942594 @default.
• W2043029802 hasConcept C54355233 @default.
• W2043029802 hasConcept C60748783 @default.
• W2043029802 hasConcept C86803240 @default.
• W2043029802 hasConceptScore W2043029802C104317684 @default.
• W2043029802 hasConceptScore W2043029802C111425858 @default.
• W2043029802 hasConceptScore W2043029802C134935766 @default.
• W2043029802 hasConceptScore W2043029802C13514818 @default.
• W2043029802 hasConceptScore W2043029802C2776559941 @default.
• W2043029802 hasConceptScore W2043029802C2776674815 @default.
• W2043029802 hasConceptScore W2043029802C2778677574 @default.
• W2043029802 hasConceptScore W2043029802C2779115348 @default.
• W2043029802 hasConceptScore W2043029802C29906990 @default.
• W2043029802 hasConceptScore W2043029802C501734568 @default.
• W2043029802 hasConceptScore W2043029802C502942594 @default.
• W2043029802 hasConceptScore W2043029802C54355233 @default.
• W2043029802 hasConceptScore W2043029802C60748783 @default.
• W2043029802 hasConceptScore W2043029802C86803240 @default.
• W2043029802 hasIssue "10" @default.
• W2043029802 hasLocation W20430298021 @default.
• W2043029802 hasLocation W20430298022 @default.
• W2043029802 hasOpenAccess W2043029802 @default.
• W2043029802 hasPrimaryLocation W20430298021 @default.
• W2043029802 hasRelatedWork W1989957148 @default.
• W2043029802 hasRelatedWork W2043029802 @default.
• W2043029802 hasRelatedWork W2079200830 @default.
• W2043029802 hasRelatedWork W2118732867 @default.
• W2043029802 hasRelatedWork W2180659821 @default.
• W2043029802 hasRelatedWork W2734652256 @default.
• W2043029802 hasRelatedWork W2801459167 @default.

• next