FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2024857001> ?p ?o ?g. }

• W2024857001 endingPage "619" @default.
• W2024857001 startingPage "616" @default.
• W2024857001 abstract "Cowden syndrome results from germline mutations in the gene for phosphatase and tensin homologue deleted on chromosome 10 (PTEN) and from variants in succinate dehydrogenase B and D subunits. We hypothesized that succinate accumulation may be common among individuals with SDH variants/mutations and those with PTEN mutations.Urine and blood were collected from individuals meeting full or partial Cowden syndrome diagnostic criteria or those with paraganglioma (PGL) or a known susceptibility paraganglioma-associated gene mutation, and succinate was measured. PTEN, SDHB, SDHC, and SDHD genes were sequenced from genomic DNA.Elevated plasma succinate was observed in 13/21 (62%) individuals with germline PTEN, SDHB, or SDHD mutations as compared with 5/32 (16%) controls (P < 0.001), in 10/15 (67%) individuals with pathogenic PTEN mutations but in <20% of mutation-negative individuals meeting identical criteria, and in individuals with mutations in SDHB (1/1, 100%) and SDHD (2/5, 40%).Our data suggest that mutations in PTEN, SDHB, and SDHD reduce catalytic activity of succinate dehydrogenase, resulting in succinate accumulation, and identify a common biochemical alteration in these two patient populations (PTEN and SDHx mutation positive individuals). Plasma organic acid analysis may provide an effective and inexpensive screening method to determine when more expensive gene sequencing of PTEN and SDH genes is warranted." @default.
• W2024857001 created "2016-06-24" @default.
• W2024857001 creator A5034312339 @default.
• W2024857001 creator A5053279930 @default.
• W2024857001 creator A5074868789 @default.
• W2024857001 creator A5085761300 @default.
• W2024857001 date "2012-06-01" @default.
• W2024857001 modified "2023-10-15" @default.
• W2024857001 title "Elevated plasma succinate in PTEN, SDHB, and SDHD mutation–positive individuals" @default.
• W2024857001 cites W1972535033 @default.
• W2024857001 cites W1990287702 @default.
• W2024857001 cites W1992804184 @default.
• W2024857001 cites W1996222881 @default.
• W2024857001 cites W1997649361 @default.
• W2024857001 cites W2004134400 @default.
• W2024857001 cites W2041596211 @default.
• W2024857001 cites W2046744395 @default.
• W2024857001 cites W2093092063 @default.
• W2024857001 cites W2113477380 @default.
• W2024857001 cites W2113535266 @default.
• W2024857001 cites W2119169141 @default.
• W2024857001 cites W2119235043 @default.
• W2024857001 cites W2136749294 @default.
• W2024857001 cites W2154953682 @default.
• W2024857001 doi "https://doi.org/10.1038/gim.2011.63" @default.
• W2024857001 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4019996" @default.
• W2024857001 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22261759" @default.
• W2024857001 hasPublicationYear "2012" @default.
• W2024857001 type Work @default.
• W2024857001 sameAs 2024857001 @default.
• W2024857001 citedByCount "42" @default.
• W2024857001 countsByYear W20248570012012 @default.
• W2024857001 countsByYear W20248570012013 @default.
• W2024857001 countsByYear W20248570012014 @default.
• W2024857001 countsByYear W20248570012015 @default.
• W2024857001 countsByYear W20248570012016 @default.
• W2024857001 countsByYear W20248570012017 @default.
• W2024857001 countsByYear W20248570012018 @default.
• W2024857001 countsByYear W20248570012019 @default.
• W2024857001 countsByYear W20248570012020 @default.
• W2024857001 countsByYear W20248570012021 @default.
• W2024857001 countsByYear W20248570012022 @default.
• W2024857001 countsByYear W20248570012023 @default.
• W2024857001 crossrefType "journal-article" @default.
• W2024857001 hasAuthorship W2024857001A5034312339 @default.
• W2024857001 hasAuthorship W2024857001A5053279930 @default.
• W2024857001 hasAuthorship W2024857001A5074868789 @default.
• W2024857001 hasAuthorship W2024857001A5085761300 @default.
• W2024857001 hasBestOaLocation W20248570011 @default.
• W2024857001 hasConcept C104317684 @default.
• W2024857001 hasConcept C13514818 @default.
• W2024857001 hasConcept C142724271 @default.
• W2024857001 hasConcept C2776453936 @default.
• W2024857001 hasConcept C2776734335 @default.
• W2024857001 hasConcept C2777609662 @default.
• W2024857001 hasConcept C2779620337 @default.
• W2024857001 hasConcept C2780744430 @default.
• W2024857001 hasConcept C2781330172 @default.
• W2024857001 hasConcept C28859421 @default.
• W2024857001 hasConcept C2994225774 @default.
• W2024857001 hasConcept C501734568 @default.
• W2024857001 hasConcept C502942594 @default.
• W2024857001 hasConcept C54355233 @default.
• W2024857001 hasConcept C62478195 @default.
• W2024857001 hasConcept C71924100 @default.
• W2024857001 hasConcept C86554907 @default.
• W2024857001 hasConcept C86803240 @default.
• W2024857001 hasConceptScore W2024857001C104317684 @default.
• W2024857001 hasConceptScore W2024857001C13514818 @default.
• W2024857001 hasConceptScore W2024857001C142724271 @default.
• W2024857001 hasConceptScore W2024857001C2776453936 @default.
• W2024857001 hasConceptScore W2024857001C2776734335 @default.
• W2024857001 hasConceptScore W2024857001C2777609662 @default.
• W2024857001 hasConceptScore W2024857001C2779620337 @default.
• W2024857001 hasConceptScore W2024857001C2780744430 @default.
• W2024857001 hasConceptScore W2024857001C2781330172 @default.
• W2024857001 hasConceptScore W2024857001C28859421 @default.
• W2024857001 hasConceptScore W2024857001C2994225774 @default.
• W2024857001 hasConceptScore W2024857001C501734568 @default.
• W2024857001 hasConceptScore W2024857001C502942594 @default.
• W2024857001 hasConceptScore W2024857001C54355233 @default.
• W2024857001 hasConceptScore W2024857001C62478195 @default.
• W2024857001 hasConceptScore W2024857001C71924100 @default.
• W2024857001 hasConceptScore W2024857001C86554907 @default.
• W2024857001 hasConceptScore W2024857001C86803240 @default.
• W2024857001 hasIssue "6" @default.
• W2024857001 hasLocation W20248570011 @default.
• W2024857001 hasLocation W20248570012 @default.
• W2024857001 hasLocation W20248570013 @default.
• W2024857001 hasLocation W20248570014 @default.
• W2024857001 hasOpenAccess W2024857001 @default.
• W2024857001 hasPrimaryLocation W20248570011 @default.
• W2024857001 hasRelatedWork W1863395362 @default.
• W2024857001 hasRelatedWork W1971547204 @default.
• W2024857001 hasRelatedWork W2025719835 @default.
• W2024857001 hasRelatedWork W2060494403 @default.
• W2024857001 hasRelatedWork W2088792339 @default.
• W2024857001 hasRelatedWork W269100684 @default.

• next