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Science 28 May 1993:
Vol. 260. no. 5112, pp. 1317 - 1320
DOI: 10.1126/science.8493574

Articles

Science, Vol 260, Issue 5112, 1317-1320
Copyright © 1993 by American Association for the Advancement of Science


articles

Identification of the von Hippel-Lindau disease tumor suppressor gene

F Latif, K Tory, J Gnarra, M Yao, FM Duh, ML Orcutt, T Stackhouse, I Kuzmin, W Modi, L Geil, and al. et

Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center (NCI-FCRDC), Frederick, MD 21702-1201.

A gene discovered by positional cloning has been identified as the von Hippel-Lindau (VHL) disease tumor suppressor gene. A restriction fragment encompassing the gene showed rearrangements in 28 of 221 VHL kindreds. Eighteen of these rearrangements were due to deletions in the candidate gene, including three large nonoverlapping deletions. Intragenic mutations were detected in cell lines derived from VHL patients and from sporadic renal cell carcinomas. The VHL gene is evolutionarily conserved and encodes two widely expressed transcripts of approximately 6 and 6.5 kilobases. The partial sequence of the inferred gene product shows no homology to other proteins, except for an acidic repeat domain found in the procyclic surface membrane glycoprotein of Trypanosoma brucei.


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Development 131, 2497-2508
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Cancer and Leukemia Group B 90206: A Randomized Phase III Trial of Interferon-{alpha} or Interferon-{alpha} Plus Anti-Vascular Endothelial Growth Factor Antibody (Bevacizumab) in Metastatic Renal Cell Carcinoma.
B. I. Rini, S. Halabi, J. Taylor, E. J. Small, and R. L. Schilsky (2004)
Clin. Cancer Res. 10, 2584-2586
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Impaired Expression of the Cell Cycle Regulator BTG2 Is Common in Clear Cell Renal Cell Carcinoma.
K. Struckmann, P. Schraml, R. Simon, K. Elmenhorst, M. Mirlacher, J. Kononen, and H. Moch (2004)
Cancer Res. 64, 1632-1638
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Tumor Suppressor von Hippel-Lindau (VHL) Stabilization of Jade-1 Protein Occurs through Plant Homeodomains and Is VHL Mutation Dependent.
M. I. Zhou, H. Wang, R. L. Foy, J. J. Ross, and H. T. Cohen (2004)
Cancer Res. 64, 1278-1286
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Developmental Arrest of Angioblastic Lineage Initiates Tumorigenesis in von Hippel-Lindau Disease.
A. O. Vortmeyer, S. Frank, S.-Y. Jeong, K. Yuan, B. Ikejiri, Y.-S. Lee, D. Bhowmick, R. R. Lonser, R. Smith, G. Rodgers, et al. (2003)
Cancer Res. 63, 7051-7055
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Analysis of the Birt-Hogg-Dube (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer.
N Fernandes da Silva, D Gentle, L B Hesson, D G Morton, F Latif, and E R Maher (2003)
J. Med. Genet. 40, 820-824
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Overview: Integrating Renal Hypoxic Signals in Development and Disease.
T. O. Daniel (2003)
J. Am. Soc. Nephrol. 14, 2693-2694
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The von Hippel-Lindau Gene, Kidney Cancer, and Oxygen Sensing.
W. G. Kaelin Jr. (2003)
J. Am. Soc. Nephrol. 14, 2703-2711
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Influence of the RNA-Binding Protein HuR in pVHL-Regulated p53 Expression in Renal Carcinoma Cells.
S. Galban, J. L. Martindale, K. Mazan-Mamczarz, I. Lopez de Silanes, J. Fan, W. Wang, J. Decker, and M. Gorospe (2003)
Mol. Cell. Biol. 23, 7083-7095
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