Matches in SemOpenAlex for { <https://semopenalex.org/work/W3018812310> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W3018812310 endingPage "a005181" @default.
- W3018812310 startingPage "a005181" @default.
- W3018812310 abstract "Proteus syndrome is a mosaic disorder that can cause progressive postnatal overgrowth of nearly any organ or tissue. To date, Proteus syndrome has been exclusively associated with the mosaic c.49G > A p.(Glu17Lys) pathogenic variant in AKT1 , a variant that is also present in many cancers. Here we describe an individual with severe Proteus syndrome who died at 7.5 yr of age from combined parenchymal and restrictive pulmonary disease. Remarkably, this individual was found to harbor a mosaic c.49_50delinsAG p.(Glu17Arg) variant in AKT1 at a variant allele fraction that ranged from <0.01 to 0.46 in fibroblasts established from an overgrown digit. This variant was demonstrated to be constitutively activating by phosphorylation of AKT(S473). These data document allelic heterogeneity for Proteus syndrome. We recommend that individuals with a potential clinical diagnosis of Proteus syndrome who are negative for the p.(Glu17Lys) variant be tested for other variants in AKT1 ." @default.
- W3018812310 created "2020-05-01" @default.
- W3018812310 creator A5003682565 @default.
- W3018812310 creator A5042514001 @default.
- W3018812310 creator A5053282806 @default.
- W3018812310 creator A5055086845 @default.
- W3018812310 creator A5069216419 @default.
- W3018812310 creator A5078160338 @default.
- W3018812310 creator A5088663879 @default.
- W3018812310 date "2020-04-23" @default.
- W3018812310 modified "2023-09-25" @default.
- W3018812310 title "Allelic heterogeneity of Proteus syndrome" @default.
- W3018812310 cites W1988673699 @default.
- W3018812310 cites W2018023891 @default.
- W3018812310 cites W2021341670 @default.
- W3018812310 cites W2025120194 @default.
- W3018812310 cites W2051978340 @default.
- W3018812310 cites W2059121608 @default.
- W3018812310 cites W2068025786 @default.
- W3018812310 cites W2083822647 @default.
- W3018812310 cites W2089620648 @default.
- W3018812310 cites W2147941657 @default.
- W3018812310 cites W2290057196 @default.
- W3018812310 cites W2731940052 @default.
- W3018812310 cites W2781534540 @default.
- W3018812310 cites W2783779626 @default.
- W3018812310 cites W2898789672 @default.
- W3018812310 cites W2915921499 @default.
- W3018812310 cites W2921796915 @default.
- W3018812310 cites W2921944920 @default.
- W3018812310 cites W2943962754 @default.
- W3018812310 cites W2973601147 @default.
- W3018812310 cites W2985028625 @default.
- W3018812310 doi "https://doi.org/10.1101/mcs.a005181" @default.
- W3018812310 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7304363" @default.
- W3018812310 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32327430" @default.
- W3018812310 hasPublicationYear "2020" @default.
- W3018812310 type Work @default.
- W3018812310 sameAs 3018812310 @default.
- W3018812310 citedByCount "7" @default.
- W3018812310 countsByYear W30188123102020 @default.
- W3018812310 countsByYear W30188123102021 @default.
- W3018812310 countsByYear W30188123102022 @default.
- W3018812310 crossrefType "journal-article" @default.
- W3018812310 hasAuthorship W3018812310A5003682565 @default.
- W3018812310 hasAuthorship W3018812310A5042514001 @default.
- W3018812310 hasAuthorship W3018812310A5053282806 @default.
- W3018812310 hasAuthorship W3018812310A5055086845 @default.
- W3018812310 hasAuthorship W3018812310A5069216419 @default.
- W3018812310 hasAuthorship W3018812310A5078160338 @default.
- W3018812310 hasAuthorship W3018812310A5088663879 @default.
- W3018812310 hasBestOaLocation W30188123101 @default.
- W3018812310 hasConcept C104317684 @default.
- W3018812310 hasConcept C11960822 @default.
- W3018812310 hasConcept C154137905 @default.
- W3018812310 hasConcept C180754005 @default.
- W3018812310 hasConcept C2777781617 @default.
- W3018812310 hasConcept C2779464495 @default.
- W3018812310 hasConcept C54355233 @default.
- W3018812310 hasConcept C547475151 @default.
- W3018812310 hasConcept C75217442 @default.
- W3018812310 hasConcept C86803240 @default.
- W3018812310 hasConceptScore W3018812310C104317684 @default.
- W3018812310 hasConceptScore W3018812310C11960822 @default.
- W3018812310 hasConceptScore W3018812310C154137905 @default.
- W3018812310 hasConceptScore W3018812310C180754005 @default.
- W3018812310 hasConceptScore W3018812310C2777781617 @default.
- W3018812310 hasConceptScore W3018812310C2779464495 @default.
- W3018812310 hasConceptScore W3018812310C54355233 @default.
- W3018812310 hasConceptScore W3018812310C547475151 @default.
- W3018812310 hasConceptScore W3018812310C75217442 @default.
- W3018812310 hasConceptScore W3018812310C86803240 @default.
- W3018812310 hasIssue "3" @default.
- W3018812310 hasLocation W30188123101 @default.
- W3018812310 hasLocation W30188123102 @default.
- W3018812310 hasLocation W30188123103 @default.
- W3018812310 hasOpenAccess W3018812310 @default.
- W3018812310 hasPrimaryLocation W30188123101 @default.
- W3018812310 hasRelatedWork W2002128513 @default.
- W3018812310 hasRelatedWork W2057739827 @default.
- W3018812310 hasRelatedWork W2147941657 @default.
- W3018812310 hasRelatedWork W3018812310 @default.
- W3018812310 hasRelatedWork W4210726894 @default.
- W3018812310 hasRelatedWork W4214636016 @default.
- W3018812310 hasRelatedWork W4234533307 @default.
- W3018812310 hasRelatedWork W4256069395 @default.
- W3018812310 hasRelatedWork W4281617324 @default.
- W3018812310 hasRelatedWork W2092874662 @default.
- W3018812310 hasVolume "6" @default.
- W3018812310 isParatext "false" @default.
- W3018812310 isRetracted "false" @default.
- W3018812310 magId "3018812310" @default.
- W3018812310 workType "article" @default.