FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2095394088> ?p ?o ?g. }

• W2095394088 endingPage "1292" @default.
• W2095394088 startingPage "1287" @default.
• W2095394088 abstract "Mismatch repair (MMR) deficiency in tumours from patients with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome is mainly caused by mutations in the MLH1, MSH2, and MSH6 genes. A major challenge in the clinical management of patients with suspected HNPCC is the frequent occurrence of missense mutations in MSH6. These can be considered neither deleterious nor clinically innocent a priori. To assess their significance we studied five novel MSH6 missense mutations in six patients derived from a series of consecutive endometrial and colorectal cancer patients selected for study after their tumours were determined to be microsatellite unstable. We tested each mutated protein for heterodimerisation with MSH2 and for in vitro MMR capability. Four mutations (R128L, P623L, K728T, G881K+S) showed no impairment of these functions while the fifth (E1193K) displayed marked impairment of both functions. These results, taken together with our previous similar findings concerning six other missense mutations in MSH6, allow us to conclude that many or most missense changes in MSH6 likely are clinically innocent, whereas some missense changes such as E1193K, which lead to impaired MMR, are likely to be clinically significant, but have low penetrance." @default.
• W2095394088 created "2016-06-24" @default.
• W2095394088 creator A5012798070 @default.
• W2095394088 creator A5034241268 @default.
• W2095394088 creator A5039906065 @default.
• W2095394088 creator A5061124226 @default.
• W2095394088 creator A5063189075 @default.
• W2095394088 creator A5076277970 @default.
• W2095394088 date "2004-08-31" @default.
• W2095394088 modified "2023-10-16" @default.
• W2095394088 title "MSH6 missense mutations are often associated with no or low cancer susceptibility" @default.
• W2095394088 cites W1481966721 @default.
• W2095394088 cites W1491727284 @default.
• W2095394088 cites W1926715094 @default.
• W2095394088 cites W1965939096 @default.
• W2095394088 cites W1980462742 @default.
• W2095394088 cites W1996752765 @default.
• W2095394088 cites W2000526989 @default.
• W2095394088 cites W2027127660 @default.
• W2095394088 cites W2040886348 @default.
• W2095394088 cites W2043905028 @default.
• W2095394088 cites W2047433802 @default.
• W2095394088 cites W2058843235 @default.
• W2095394088 cites W2081680846 @default.
• W2095394088 cites W2100090309 @default.
• W2095394088 cites W2107972234 @default.
• W2095394088 cites W2112677111 @default.
• W2095394088 cites W2114971923 @default.
• W2095394088 cites W2117937920 @default.
• W2095394088 cites W2124896165 @default.
• W2095394088 cites W2129918965 @default.
• W2095394088 cites W2131815227 @default.
• W2095394088 cites W2135006707 @default.
• W2095394088 cites W2143501927 @default.
• W2095394088 cites W2154546296 @default.
• W2095394088 cites W2159429807 @default.
• W2095394088 cites W2166776471 @default.
• W2095394088 cites W2168290255 @default.
• W2095394088 doi "https://doi.org/10.1038/sj.bjc.6602129" @default.
• W2095394088 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2409912" @default.
• W2095394088 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15354210" @default.
• W2095394088 hasPublicationYear "2004" @default.
• W2095394088 type Work @default.
• W2095394088 sameAs 2095394088 @default.
• W2095394088 citedByCount "50" @default.
• W2095394088 countsByYear W20953940882012 @default.
• W2095394088 countsByYear W20953940882013 @default.
• W2095394088 countsByYear W20953940882014 @default.
• W2095394088 countsByYear W20953940882016 @default.
• W2095394088 countsByYear W20953940882017 @default.
• W2095394088 countsByYear W20953940882021 @default.
• W2095394088 countsByYear W20953940882022 @default.
• W2095394088 crossrefType "journal-article" @default.
• W2095394088 hasAuthorship W2095394088A5012798070 @default.
• W2095394088 hasAuthorship W2095394088A5034241268 @default.
• W2095394088 hasAuthorship W2095394088A5039906065 @default.
• W2095394088 hasAuthorship W2095394088A5061124226 @default.
• W2095394088 hasAuthorship W2095394088A5063189075 @default.
• W2095394088 hasAuthorship W2095394088A5076277970 @default.
• W2095394088 hasBestOaLocation W20953940881 @default.
• W2095394088 hasConcept C104317684 @default.
• W2095394088 hasConcept C111425858 @default.
• W2095394088 hasConcept C121608353 @default.
• W2095394088 hasConcept C126322002 @default.
• W2095394088 hasConcept C127716648 @default.
• W2095394088 hasConcept C200544954 @default.
• W2095394088 hasConcept C2776559941 @default.
• W2095394088 hasConcept C2776674815 @default.
• W2095394088 hasConcept C2779115348 @default.
• W2095394088 hasConcept C501734568 @default.
• W2095394088 hasConcept C502942594 @default.
• W2095394088 hasConcept C526805850 @default.
• W2095394088 hasConcept C54355233 @default.
• W2095394088 hasConcept C60748783 @default.
• W2095394088 hasConcept C71924100 @default.
• W2095394088 hasConcept C75563809 @default.
• W2095394088 hasConcept C86803240 @default.
• W2095394088 hasConceptScore W2095394088C104317684 @default.
• W2095394088 hasConceptScore W2095394088C111425858 @default.
• W2095394088 hasConceptScore W2095394088C121608353 @default.
• W2095394088 hasConceptScore W2095394088C126322002 @default.
• W2095394088 hasConceptScore W2095394088C127716648 @default.
• W2095394088 hasConceptScore W2095394088C200544954 @default.
• W2095394088 hasConceptScore W2095394088C2776559941 @default.
• W2095394088 hasConceptScore W2095394088C2776674815 @default.
• W2095394088 hasConceptScore W2095394088C2779115348 @default.
• W2095394088 hasConceptScore W2095394088C501734568 @default.
• W2095394088 hasConceptScore W2095394088C502942594 @default.
• W2095394088 hasConceptScore W2095394088C526805850 @default.
• W2095394088 hasConceptScore W2095394088C54355233 @default.
• W2095394088 hasConceptScore W2095394088C60748783 @default.
• W2095394088 hasConceptScore W2095394088C71924100 @default.
• W2095394088 hasConceptScore W2095394088C75563809 @default.
• W2095394088 hasConceptScore W2095394088C86803240 @default.
• W2095394088 hasIssue "7" @default.
• W2095394088 hasLocation W20953940881 @default.
• W2095394088 hasLocation W20953940882 @default.
• W2095394088 hasLocation W20953940883 @default.

• next