Matches in SemOpenAlex for { <https://semopenalex.org/work/W2272041631> ?p ?o ?g. }
Showing items 1 to 93 of
93
with 100 items per page.
- W2272041631 endingPage "226" @default.
- W2272041631 startingPage "223" @default.
- W2272041631 abstract "Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the phosphatidylinositol 3-kinase catalytic alpha (PIK3CA, OMIM 171834) gene. Here we report a Hungarian girl with macrodactyly and syndactyly. Genetic screening at hotspots in the PIK3CA gene identified a mosaic mutation (c.1624G > A, p.Glu542Lys) in the affected tissue, but not in the peripheral blood. To date, this somatic mutation has been reported in eight patients affected by different forms of segmental overgrowth syndromes. Detailed analysis of the Hungarian child and previously reported cases suggests high phenotypic diversity associated with the p.Glu542Lys somatic mutation. The identification of the mutation provides a novel therapeutic modality for the affected patients: those who carry somatic mutations in the PIK3CA gene are potential recipients of a novel “repurposing” approach of rapamycin treatment." @default.
- W2272041631 created "2016-06-24" @default.
- W2272041631 creator A5015339800 @default.
- W2272041631 creator A5023399910 @default.
- W2272041631 creator A5031692409 @default.
- W2272041631 creator A5049419220 @default.
- W2272041631 creator A5063930176 @default.
- W2272041631 creator A5064354843 @default.
- W2272041631 creator A5077322842 @default.
- W2272041631 creator A5083786144 @default.
- W2272041631 creator A5089807027 @default.
- W2272041631 date "2016-04-01" @default.
- W2272041631 modified "2023-09-26" @default.
- W2272041631 title "Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly" @default.
- W2272041631 cites W1966769209 @default.
- W2272041631 cites W1983710920 @default.
- W2272041631 cites W1988673699 @default.
- W2272041631 cites W1992781978 @default.
- W2272041631 cites W2005942573 @default.
- W2272041631 cites W2007425803 @default.
- W2272041631 cites W2016910640 @default.
- W2272041631 cites W2079701909 @default.
- W2272041631 cites W2089620648 @default.
- W2272041631 cites W2108921054 @default.
- W2272041631 cites W2123976982 @default.
- W2272041631 cites W2129172946 @default.
- W2272041631 cites W2164890061 @default.
- W2272041631 doi "https://doi.org/10.1016/j.ejmg.2016.02.002" @default.
- W2272041631 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26851524" @default.
- W2272041631 hasPublicationYear "2016" @default.
- W2272041631 type Work @default.
- W2272041631 sameAs 2272041631 @default.
- W2272041631 citedByCount "14" @default.
- W2272041631 countsByYear W22720416312017 @default.
- W2272041631 countsByYear W22720416312018 @default.
- W2272041631 countsByYear W22720416312019 @default.
- W2272041631 countsByYear W22720416312020 @default.
- W2272041631 countsByYear W22720416312021 @default.
- W2272041631 countsByYear W22720416312022 @default.
- W2272041631 countsByYear W22720416312023 @default.
- W2272041631 crossrefType "journal-article" @default.
- W2272041631 hasAuthorship W2272041631A5015339800 @default.
- W2272041631 hasAuthorship W2272041631A5023399910 @default.
- W2272041631 hasAuthorship W2272041631A5031692409 @default.
- W2272041631 hasAuthorship W2272041631A5049419220 @default.
- W2272041631 hasAuthorship W2272041631A5063930176 @default.
- W2272041631 hasAuthorship W2272041631A5064354843 @default.
- W2272041631 hasAuthorship W2272041631A5077322842 @default.
- W2272041631 hasAuthorship W2272041631A5083786144 @default.
- W2272041631 hasAuthorship W2272041631A5089807027 @default.
- W2272041631 hasBestOaLocation W22720416312 @default.
- W2272041631 hasConcept C104317684 @default.
- W2272041631 hasConcept C127716648 @default.
- W2272041631 hasConcept C134305767 @default.
- W2272041631 hasConcept C2777202849 @default.
- W2272041631 hasConcept C501734568 @default.
- W2272041631 hasConcept C54355233 @default.
- W2272041631 hasConcept C86803240 @default.
- W2272041631 hasConceptScore W2272041631C104317684 @default.
- W2272041631 hasConceptScore W2272041631C127716648 @default.
- W2272041631 hasConceptScore W2272041631C134305767 @default.
- W2272041631 hasConceptScore W2272041631C2777202849 @default.
- W2272041631 hasConceptScore W2272041631C501734568 @default.
- W2272041631 hasConceptScore W2272041631C54355233 @default.
- W2272041631 hasConceptScore W2272041631C86803240 @default.
- W2272041631 hasFunder F4320320300 @default.
- W2272041631 hasFunder F4320321994 @default.
- W2272041631 hasFunder F4320338080 @default.
- W2272041631 hasIssue "4" @default.
- W2272041631 hasLocation W22720416311 @default.
- W2272041631 hasLocation W22720416312 @default.
- W2272041631 hasLocation W22720416313 @default.
- W2272041631 hasLocation W22720416314 @default.
- W2272041631 hasLocation W22720416315 @default.
- W2272041631 hasOpenAccess W2272041631 @default.
- W2272041631 hasPrimaryLocation W22720416311 @default.
- W2272041631 hasRelatedWork W138964897 @default.
- W2272041631 hasRelatedWork W1530402712 @default.
- W2272041631 hasRelatedWork W1946787458 @default.
- W2272041631 hasRelatedWork W2104622833 @default.
- W2272041631 hasRelatedWork W2132993604 @default.
- W2272041631 hasRelatedWork W2143066563 @default.
- W2272041631 hasRelatedWork W2157166663 @default.
- W2272041631 hasRelatedWork W2276789630 @default.
- W2272041631 hasRelatedWork W2409012247 @default.
- W2272041631 hasRelatedWork W3179054707 @default.
- W2272041631 hasVolume "59" @default.
- W2272041631 isParatext "false" @default.
- W2272041631 isRetracted "false" @default.
- W2272041631 magId "2272041631" @default.
- W2272041631 workType "article" @default.