http://purl.uniprot.org/citations/11846487 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/11846487 | http://www.w3.org/2000/01/rdf-schema#comment | "The type 1 Simpson-Golabi-Behmel overgrowth syndrome (SGBS1) is caused by loss-of-function mutations of the X-linked GPC3 gene encoding glypican-3, a cell-surface heparan sulfate proteoglycan that apparently plays a negative role in growth control by an unknown mechanism. Mice carrying a Gpc3 gene knockout exhibited several phenotypic features that resemble clinical hallmarks of SGBS1, including somatic overgrowth, renal dysplasia, accessory spleens, polydactyly, and placentomegaly. In Gpc3/DeltaH19 double mutants (lacking GPC3 and also carrying a deletion around the H19 gene region that causes bialellic expression of the closely linked Igf2 gene by imprint relaxation), the Gpc3-null phenotype was exacerbated, while additional SGBS1 features (omphalocele and skeletal defects) were manifested. However, results from a detailed comparative analysis of growth patterns in double mutants lacking GPC3 and also IGF2, IGF1, or the type 1 IGF receptor (IGF1R) provided conclusive genetic evidence inconsistent with the hypothesis that GPC3 acts as a growth suppressor by sequestering or downregulating an IGF ligand. Nevertheless, our data are compatible with a model positing that there is downstream convergence of the independent signaling pathways in which either IGFs or (indirectly) GPC3 participate."xsd:string |
http://purl.uniprot.org/citations/11846487 | http://purl.org/dc/terms/identifier | "doi:10.1006/dbio.2001.0554"xsd:string |
http://purl.uniprot.org/citations/11846487 | http://purl.uniprot.org/core/author | "Fisher P."xsd:string |
http://purl.uniprot.org/citations/11846487 | http://purl.uniprot.org/core/author | "Schlessinger D."xsd:string |
http://purl.uniprot.org/citations/11846487 | http://purl.uniprot.org/core/author | "Efstratiadis A."xsd:string |
http://purl.uniprot.org/citations/11846487 | http://purl.uniprot.org/core/author | "Deiana M."xsd:string |
http://purl.uniprot.org/citations/11846487 | http://purl.uniprot.org/core/author | "Crisponi L."xsd:string |
http://purl.uniprot.org/citations/11846487 | http://purl.uniprot.org/core/author | "Chiao E."xsd:string |
http://purl.uniprot.org/citations/11846487 | http://purl.uniprot.org/core/author | "Pilia G."xsd:string |
http://purl.uniprot.org/citations/11846487 | http://purl.uniprot.org/core/author | "Dragatsis I."xsd:string |
http://purl.uniprot.org/citations/11846487 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
http://purl.uniprot.org/citations/11846487 | http://purl.uniprot.org/core/name | "Dev Biol"xsd:string |
http://purl.uniprot.org/citations/11846487 | http://purl.uniprot.org/core/pages | "185-206"xsd:string |
http://purl.uniprot.org/citations/11846487 | http://purl.uniprot.org/core/title | "Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling."xsd:string |
http://purl.uniprot.org/citations/11846487 | http://purl.uniprot.org/core/volume | "243"xsd:string |
http://purl.uniprot.org/citations/11846487 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11846487 |
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