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http://purl.uniprot.org/citations/11846487http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11846487http://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/11846487http://purl.org/dc/terms/identifier"doi:10.1006/dbio.2001.0554"xsd:string
http://purl.uniprot.org/citations/11846487http://purl.uniprot.org/core/author"Fisher P."xsd:string
http://purl.uniprot.org/citations/11846487http://purl.uniprot.org/core/author"Schlessinger D."xsd:string
http://purl.uniprot.org/citations/11846487http://purl.uniprot.org/core/author"Efstratiadis A."xsd:string
http://purl.uniprot.org/citations/11846487http://purl.uniprot.org/core/author"Deiana M."xsd:string
http://purl.uniprot.org/citations/11846487http://purl.uniprot.org/core/author"Crisponi L."xsd:string
http://purl.uniprot.org/citations/11846487http://purl.uniprot.org/core/author"Chiao E."xsd:string
http://purl.uniprot.org/citations/11846487http://purl.uniprot.org/core/author"Pilia G."xsd:string
http://purl.uniprot.org/citations/11846487http://purl.uniprot.org/core/author"Dragatsis I."xsd:string
http://purl.uniprot.org/citations/11846487http://purl.uniprot.org/core/date"2002"xsd:gYear
http://purl.uniprot.org/citations/11846487http://purl.uniprot.org/core/name"Dev Biol"xsd:string
http://purl.uniprot.org/citations/11846487http://purl.uniprot.org/core/pages"185-206"xsd:string
http://purl.uniprot.org/citations/11846487http://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/11846487http://purl.uniprot.org/core/volume"243"xsd:string
http://purl.uniprot.org/citations/11846487http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/11846487
http://purl.uniprot.org/citations/11846487http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/11846487
http://purl.uniprot.org/uniprot/Q8CFZ4#attribution-AA17A362240FCA9EA13F0EFE08CCB6B8http://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/11846487
http://purl.uniprot.org/uniprot/#_D3Z7M4-mappedCitation-11846487http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11846487
http://purl.uniprot.org/uniprot/#_E9PU89-mappedCitation-11846487http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11846487
http://purl.uniprot.org/uniprot/#_E9Q138-mappedCitation-11846487http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11846487
http://purl.uniprot.org/uniprot/#_B1ATR5-mappedCitation-11846487http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11846487
http://purl.uniprot.org/uniprot/#_E9QNX9-mappedCitation-11846487http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11846487
http://purl.uniprot.org/uniprot/#_B0LAD8-mappedCitation-11846487http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11846487