| http://purl.uniprot.org/citations/10096549 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10096549 | http://www.w3.org/2000/01/rdf-schema#comment | "Germ-line mutations of the human TSC2 tumor suppressor gene cause tuberous sclerosis (TSC), a disease characterized by the development of hamartomas in various organs. In the Eker rat, however, a germ-line Tsc2 mutation gives rise to renal cell carcinomas with a complete penetrance. The molecular mechanism for this phenotypic difference between man and rat is currently unknown, and the physiological function of the TSC2/Tsc2 product (tuberin) is not fully understood. To investigate these unsolved problems, we have generated a Tsc2 mutant mouse. Tsc2 heterozygous mutant (Tsc2+/-) mice developed renal carcinomas with a complete penetrance, as seen in the Eker rat, but not the angiomyolipomas characteristic of human TSC, confirming the existence of a species-specific mechanism of tumorigenesis caused by tuberin deficiency. Unexpectedly, approximately 80% of Tsc2+/-mice also developed hepatic hemangiomas that are not observed in either TSC or the Eker rat. Tsc2 homozygous (Tsc2-/-) mutants died around embryonic day 10.5, indicating an essential function for tuberin in mouse embryonic development. Some Tsc2-/-embryos exhibited an unclosed neural tube and/or thickened myocardium. The latter is associated with increased cell density that may be a reflection of loss of a growth-suppressive function of tuberin. The mouse strain described here should provide a valuable experimental model to analyze the function of tuberin and its association with tumorigenesis."xsd:string |
| http://purl.uniprot.org/citations/10096549 | http://purl.uniprot.org/core/author | "Kobayashi T."xsd:string |
| http://purl.uniprot.org/citations/10096549 | http://purl.uniprot.org/core/author | "Hino O."xsd:string |
| http://purl.uniprot.org/citations/10096549 | http://purl.uniprot.org/core/author | "Minowa O."xsd:string |
| http://purl.uniprot.org/citations/10096549 | http://purl.uniprot.org/core/author | "Noda T."xsd:string |
| http://purl.uniprot.org/citations/10096549 | http://purl.uniprot.org/core/author | "Mitani H."xsd:string |
| http://purl.uniprot.org/citations/10096549 | http://purl.uniprot.org/core/author | "Kuno J."xsd:string |
| http://purl.uniprot.org/citations/10096549 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10096549 | http://purl.uniprot.org/core/name | "Cancer Res"xsd:string |
| http://purl.uniprot.org/citations/10096549 | http://purl.uniprot.org/core/pages | "1206-1211"xsd:string |
| http://purl.uniprot.org/citations/10096549 | http://purl.uniprot.org/core/title | "Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice."xsd:string |
| http://purl.uniprot.org/citations/10096549 | http://purl.uniprot.org/core/volume | "59"xsd:string |
| http://purl.uniprot.org/citations/10096549 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10096549 |
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