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Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway.

Abstract:

Germline mutations in the fumarate hydratase (FH) tumor suppressor gene predispose to leiomyomatosis, renal cysts, and renal cell cancer (HLRCC). HLRCC tumors overexpress HIF1alpha and hypoxia pathway genes. We conditionally inactivated mouse Fh1 in the kidney. Fh1 mutants developed multiple clonal renal cysts that overexpressed Hif1alpha and Hif2alpha. Hif targets, such as Glut1 and Vegf, were upregulated. We found that Fh1-deficient murine embryonic stem cells and renal carcinomas from HLRC...

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Publication status:
Published

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Publisher copy:
10.1016/j.ccr.2007.02.005

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
Journal:
Cancer cell More from this journal
Volume:
11
Issue:
4
Pages:
311-319
Publication date:
2007-04-01
DOI:
EISSN:
1878-3686
ISSN:
1535-6108

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