Matches in SemOpenAlex for { <https://semopenalex.org/work/W1973128227> ?p ?o ?g. }
- W1973128227 endingPage "1591" @default.
- W1973128227 startingPage "1586" @default.
- W1973128227 abstract "We have identified a novel germline mutation in the PTEN tumour suppressor gene. The mutation was identified in a patient with a glioma, and turned out to be a heterozygous germline mutation of PTEN (Arg234Gln), without loss of heterozygosity in tumour DNA. The biological consequences of this germline mutation were investigated by means of transfection studies of the mutant PTEN molecule compared to wild-type PTEN. In contrast to the wild-type molecule, the mutant PTEN protein is not capable of inducing apoptosis, induces increased cell proliferation and leads to high constitutive PKB/Akt activation, which cannot be increased anymore by stimulation with insulin. The reported patient, in addition to glioma, had suffered from benign meningioma in the past but did not show any clinical signs of Cowden disease or other hereditary diseases typically associated with PTEN germline mutations. The functional consequences of the mutation in transfection studies are consistent with high proliferative activity. Together, these findings suggest that the Arg234Gln missense mutation in PTEN has oncogenic properties and predisposes to brain tumours of multiple lineages." @default.
- W1973128227 created "2016-06-24" @default.
- W1973128227 creator A5013264356 @default.
- W1973128227 creator A5024350050 @default.
- W1973128227 creator A5028655998 @default.
- W1973128227 creator A5030782945 @default.
- W1973128227 creator A5033711163 @default.
- W1973128227 creator A5040728264 @default.
- W1973128227 creator A5042546788 @default.
- W1973128227 creator A5048037996 @default.
- W1973128227 creator A5052631009 @default.
- W1973128227 creator A5054283637 @default.
- W1973128227 creator A5056837393 @default.
- W1973128227 creator A5060689942 @default.
- W1973128227 creator A5079081893 @default.
- W1973128227 date "2002-05-01" @default.
- W1973128227 modified "2023-10-06" @default.
- W1973128227 title "A novel germline mutation of PTEN associated with brain tumours of multiple lineages" @default.
- W1973128227 cites W1489145507 @default.
- W1973128227 cites W1551696649 @default.
- W1973128227 cites W1588880146 @default.
- W1973128227 cites W1673025041 @default.
- W1973128227 cites W1935114338 @default.
- W1973128227 cites W1939083266 @default.
- W1973128227 cites W1998038367 @default.
- W1973128227 cites W2000780971 @default.
- W1973128227 cites W2005782605 @default.
- W1973128227 cites W2017191360 @default.
- W1973128227 cites W2024220711 @default.
- W1973128227 cites W2043806397 @default.
- W1973128227 cites W2068345721 @default.
- W1973128227 cites W2068427129 @default.
- W1973128227 cites W2103002807 @default.
- W1973128227 cites W2119186515 @default.
- W1973128227 cites W2157023326 @default.
- W1973128227 cites W2160700807 @default.
- W1973128227 cites W2161810908 @default.
- W1973128227 doi "https://doi.org/10.1038/sj.bjc.6600206" @default.
- W1973128227 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2746590" @default.
- W1973128227 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12085208" @default.
- W1973128227 hasPublicationYear "2002" @default.
- W1973128227 type Work @default.
- W1973128227 sameAs 1973128227 @default.
- W1973128227 citedByCount "33" @default.
- W1973128227 countsByYear W19731282272012 @default.
- W1973128227 countsByYear W19731282272013 @default.
- W1973128227 countsByYear W19731282272014 @default.
- W1973128227 countsByYear W19731282272015 @default.
- W1973128227 countsByYear W19731282272016 @default.
- W1973128227 countsByYear W19731282272017 @default.
- W1973128227 countsByYear W19731282272018 @default.
- W1973128227 countsByYear W19731282272019 @default.
- W1973128227 countsByYear W19731282272020 @default.
- W1973128227 countsByYear W19731282272021 @default.
- W1973128227 countsByYear W19731282272022 @default.
- W1973128227 countsByYear W19731282272023 @default.
- W1973128227 crossrefType "journal-article" @default.
- W1973128227 hasAuthorship W1973128227A5013264356 @default.
- W1973128227 hasAuthorship W1973128227A5024350050 @default.
- W1973128227 hasAuthorship W1973128227A5028655998 @default.
- W1973128227 hasAuthorship W1973128227A5030782945 @default.
- W1973128227 hasAuthorship W1973128227A5033711163 @default.
- W1973128227 hasAuthorship W1973128227A5040728264 @default.
- W1973128227 hasAuthorship W1973128227A5042546788 @default.
- W1973128227 hasAuthorship W1973128227A5048037996 @default.
- W1973128227 hasAuthorship W1973128227A5052631009 @default.
- W1973128227 hasAuthorship W1973128227A5054283637 @default.
- W1973128227 hasAuthorship W1973128227A5056837393 @default.
- W1973128227 hasAuthorship W1973128227A5060689942 @default.
- W1973128227 hasAuthorship W1973128227A5079081893 @default.
- W1973128227 hasBestOaLocation W19731282271 @default.
- W1973128227 hasConcept C104317684 @default.
- W1973128227 hasConcept C109825262 @default.
- W1973128227 hasConcept C13514818 @default.
- W1973128227 hasConcept C143065580 @default.
- W1973128227 hasConcept C143589142 @default.
- W1973128227 hasConcept C180754005 @default.
- W1973128227 hasConcept C2777609662 @default.
- W1973128227 hasConcept C2778264664 @default.
- W1973128227 hasConcept C2780846426 @default.
- W1973128227 hasConcept C501734568 @default.
- W1973128227 hasConcept C502942594 @default.
- W1973128227 hasConcept C54355233 @default.
- W1973128227 hasConcept C555283112 @default.
- W1973128227 hasConcept C62478195 @default.
- W1973128227 hasConcept C75217442 @default.
- W1973128227 hasConcept C75563809 @default.
- W1973128227 hasConcept C86554907 @default.
- W1973128227 hasConcept C86803240 @default.
- W1973128227 hasConceptScore W1973128227C104317684 @default.
- W1973128227 hasConceptScore W1973128227C109825262 @default.
- W1973128227 hasConceptScore W1973128227C13514818 @default.
- W1973128227 hasConceptScore W1973128227C143065580 @default.
- W1973128227 hasConceptScore W1973128227C143589142 @default.
- W1973128227 hasConceptScore W1973128227C180754005 @default.
- W1973128227 hasConceptScore W1973128227C2777609662 @default.
- W1973128227 hasConceptScore W1973128227C2778264664 @default.
- W1973128227 hasConceptScore W1973128227C2780846426 @default.