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. 1997 May;3(5):289–293.

The molecular basis of von Hippel-Lindau disease.

O Iliopoulos 1, W G Kaelin Jr 1
PMCID: PMC2230077  PMID: 9205944

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aso T., Lane W. S., Conaway J. W., Conaway R. C. Elongin (SIII): a multisubunit regulator of elongation by RNA polymerase II. Science. 1995 Sep 8;269(5229):1439–1443. doi: 10.1126/science.7660129. [DOI] [PubMed] [Google Scholar]
  2. Brauch H., Kishida T., Glavac D., Chen F., Pausch F., Höfler H., Latif F., Lerman M. I., Zbar B., Neumann H. P. Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum Genet. 1995 May;95(5):551–556. doi: 10.1007/BF00223868. [DOI] [PubMed] [Google Scholar]
  3. Chen F., Kishida T., Duh F. M., Renbaum P., Orcutt M. L., Schmidt L., Zbar B. Suppression of growth of renal carcinoma cells by the von Hippel-Lindau tumor suppressor gene. Cancer Res. 1995 Nov 1;55(21):4804–4807. [PubMed] [Google Scholar]
  4. Chen F., Kishida T., Yao M., Hustad T., Glavac D., Dean M., Gnarra J. R., Orcutt M. L., Duh F. M., Glenn G. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat. 1995;5(1):66–75. doi: 10.1002/humu.1380050109. [DOI] [PubMed] [Google Scholar]
  5. Corless C. L., Kibel A. S., Iliopoulos O., Kaelin W. G., Jr Immunostaining of the von Hippel-Lindau gene product in normal and neoplastic human tissues. Hum Pathol. 1997 Apr;28(4):459–464. doi: 10.1016/s0046-8177(97)90035-6. [DOI] [PubMed] [Google Scholar]
  6. Crossey P. A., Richards F. M., Foster K., Green J. S., Prowse A., Latif F., Lerman M. I., Zbar B., Affara N. A., Ferguson-Smith M. A. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet. 1994 Aug;3(8):1303–1308. doi: 10.1093/hmg/3.8.1303. [DOI] [PubMed] [Google Scholar]
  7. Duan D. R., Pause A., Burgess W. H., Aso T., Chen D. Y., Garrett K. P., Conaway R. C., Conaway J. W., Linehan W. M., Klausner R. D. Inhibition of transcription elongation by the VHL tumor suppressor protein. Science. 1995 Sep 8;269(5229):1402–1406. doi: 10.1126/science.7660122. [DOI] [PubMed] [Google Scholar]
  8. Foster K., Prowse A., van den Berg A., Fleming S., Hulsbeek M. M., Crossey P. A., Richards F. M., Cairns P., Affara N. A., Ferguson-Smith M. A. Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma. Hum Mol Genet. 1994 Dec;3(12):2169–2173. doi: 10.1093/hmg/3.12.2169. [DOI] [PubMed] [Google Scholar]
  9. Gao J., Naglich J. G., Laidlaw J., Whaley J. M., Seizinger B. R., Kley N. Cloning and characterization of a mouse gene with homology to the human von Hippel-Lindau disease tumor suppressor gene: implications for the potential organization of the human von Hippel-Lindau disease gene. Cancer Res. 1995 Feb 15;55(4):743–747. [PubMed] [Google Scholar]
  10. Glavac D., Neumann H. P., Wittke C., Jaenig H., Masek O., Streicher T., Pausch F., Engelhardt D., Plate K. H., Höfler H. Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. Hum Genet. 1996 Sep;98(3):271–280. doi: 10.1007/s004390050206. [DOI] [PubMed] [Google Scholar]
  11. Gnarra J. R., Duan D. R., Weng Y., Humphrey J. S., Chen D. Y., Lee S., Pause A., Dudley C. F., Latif F., Kuzmin I. Molecular cloning of the von Hippel-Lindau tumor suppressor gene and its role in renal carcinoma. Biochim Biophys Acta. 1996 Mar 18;1242(3):201–210. doi: 10.1016/0304-419x(95)00012-5. [DOI] [PubMed] [Google Scholar]
  12. Gnarra J. R., Tory K., Weng Y., Schmidt L., Wei M. H., Li H., Latif F., Liu S., Chen F., Duh F. M. Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat Genet. 1994 May;7(1):85–90. doi: 10.1038/ng0594-85. [DOI] [PubMed] [Google Scholar]
  13. Gnarra J. R., Zhou S., Merrill M. J., Wagner J. R., Krumm A., Papavassiliou E., Oldfield E. H., Klausner R. D., Linehan W. M. Post-transcriptional regulation of vascular endothelial growth factor mRNA by the product of the VHL tumor suppressor gene. Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10589–10594. doi: 10.1073/pnas.93.20.10589. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Gross D. J., Avishai N., Meiner V., Filon D., Zbar B., Abeliovich D. Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene. J Clin Endocrinol Metab. 1996 Jan;81(1):147–149. doi: 10.1210/jcem.81.1.8550742. [DOI] [PubMed] [Google Scholar]
  15. Herman J. G., Latif F., Weng Y., Lerman M. I., Zbar B., Liu S., Samid D., Duan D. S., Gnarra J. R., Linehan W. M. Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma. Proc Natl Acad Sci U S A. 1994 Oct 11;91(21):9700–9704. doi: 10.1073/pnas.91.21.9700. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Hofstra R. M., Stelwagen T., Stulp R. P., de Jong D., Hulsbeek M., Kamsteeg E. J., van den Berg A., Landsvater R. M., Vermey A., Molenaar W. M. Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases. J Clin Endocrinol Metab. 1996 Aug;81(8):2881–2884. doi: 10.1210/jcem.81.8.8768845. [DOI] [PubMed] [Google Scholar]
  17. Iliopoulos O., Kibel A., Gray S., Kaelin W. G., Jr Tumour suppression by the human von Hippel-Lindau gene product. Nat Med. 1995 Aug;1(8):822–826. doi: 10.1038/nm0895-822. [DOI] [PubMed] [Google Scholar]
  18. Iliopoulos O., Levy A. P., Jiang C., Kaelin W. G., Jr, Goldberg M. A. Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein. Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10595–10599. doi: 10.1073/pnas.93.20.10595. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Kanno H., Kondo K., Ito S., Yamamoto I., Fujii S., Torigoe S., Sakai N., Hosaka M., Shuin T., Yao M. Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas. Cancer Res. 1994 Sep 15;54(18):4845–4847. [PubMed] [Google Scholar]
  20. Kibel A., Iliopoulos O., DeCaprio J. A., Kaelin W. G., Jr Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C. Science. 1995 Sep 8;269(5229):1444–1446. doi: 10.1126/science.7660130. [DOI] [PubMed] [Google Scholar]
  21. Kishida T., Stackhouse T. M., Chen F., Lerman M. I., Zbar B. Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations. Cancer Res. 1995 Oct 15;55(20):4544–4548. [PubMed] [Google Scholar]
  22. Kolch W., Martiny-Baron G., Kieser A., Marmé D. Regulation of the expression of the VEGF/VPS and its receptors: role in tumor angiogenesis. Breast Cancer Res Treat. 1995;36(2):139–155. doi: 10.1007/BF00666036. [DOI] [PubMed] [Google Scholar]
  23. Latif F., Tory K., Gnarra J., Yao M., Duh F. M., Orcutt M. L., Stackhouse T., Kuzmin I., Modi W., Geil L. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993 May 28;260(5112):1317–1320. doi: 10.1126/science.8493574. [DOI] [PubMed] [Google Scholar]
  24. Lee S., Chen D. Y., Humphrey J. S., Gnarra J. R., Linehan W. M., Klausner R. D. Nuclear/cytoplasmic localization of the von Hippel-Lindau tumor suppressor gene product is determined by cell density. Proc Natl Acad Sci U S A. 1996 Mar 5;93(5):1770–1775. doi: 10.1073/pnas.93.5.1770. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Levy A. P., Levy N. S., Goldberg M. A. Hypoxia-inducible protein binding to vascular endothelial growth factor mRNA and its modulation by the von Hippel-Lindau protein. J Biol Chem. 1996 Oct 11;271(41):25492–25497. doi: 10.1074/jbc.271.41.25492. [DOI] [PubMed] [Google Scholar]
  26. Levy A. P., Levy N. S., Iliopoulos O., Jiang C., Kaplin W. G., Jr, Goldberg M. A. Regulation of vascular endothelial growth factor by hypoxia and its modulation by the von Hippel-Lindau tumor suppressor gene. Kidney Int. 1997 Feb;51(2):575–578. doi: 10.1038/ki.1997.82. [DOI] [PubMed] [Google Scholar]
  27. Los M., Jansen G. H., Kaelin W. G., Lips C. J., Blijham G. H., Voest E. E. Expression pattern of the von Hippel-Lindau protein in human tissues. Lab Invest. 1996 Aug;75(2):231–238. [PubMed] [Google Scholar]
  28. Lubensky I. A., Gnarra J. R., Bertheau P., Walther M. M., Linehan W. M., Zhuang Z. Allelic deletions of the VHL gene detected in multiple microscopic clear cell renal lesions in von Hippel-Lindau disease patients. Am J Pathol. 1996 Dec;149(6):2089–2094. [PMC free article] [PubMed] [Google Scholar]
  29. Maher E. R., Yates J. R., Ferguson-Smith M. A. Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma. J Med Genet. 1990 May;27(5):311–314. doi: 10.1136/jmg.27.5.311. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Maher E. R., Yates J. R., Harries R., Benjamin C., Harris R., Moore A. T., Ferguson-Smith M. A. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 1990 Nov;77(283):1151–1163. doi: 10.1093/qjmed/77.2.1151. [DOI] [PubMed] [Google Scholar]
  31. Nagashima Y., Miyagi Y., Udagawa K., Taki A., Misugi K., Sakai N., Kondo K., Kaneko S., Yao M., Shuin T. Von Hippel-Lindau tumour suppressor gene. Localization of expression by in situ hybridization. J Pathol. 1996 Nov;180(3):271–274. doi: 10.1002/(SICI)1096-9896(199611)180:3<271::AID-PATH664>3.0.CO;2-2. [DOI] [PubMed] [Google Scholar]
  32. Neumann H. P., Berger D. P., Sigmund G., Blum U., Schmidt D., Parmer R. J., Volk B., Kirste G. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. N Engl J Med. 1993 Nov 18;329(21):1531–1538. doi: 10.1056/NEJM199311183292103. [DOI] [PubMed] [Google Scholar]
  33. Neumann H. P., Wiestler O. D. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet. 1991 May 4;337(8749):1052–1054. doi: 10.1016/0140-6736(91)91705-y. [DOI] [PubMed] [Google Scholar]
  34. Renbaum P., Duh F. M., Latif F., Zbar B., Lerman M. I., Kuzmin I. Isolation and characterization of the full-length 3' untranslated region of the human von Hippel-Lindau tumor suppressor gene. Hum Genet. 1996 Dec;98(6):666–671. doi: 10.1007/s004390050281. [DOI] [PubMed] [Google Scholar]
  35. Ritter M. M., Frilling A., Crossey P. A., Höppner W., Maher E. R., Mulligan L., Ponder B. A., Engelhardt D. Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. J Clin Endocrinol Metab. 1996 Mar;81(3):1035–1037. doi: 10.1210/jcem.81.3.8772572. [DOI] [PubMed] [Google Scholar]
  36. Shuin T., Kondo K., Torigoe S., Kishida T., Kubota Y., Hosaka M., Nagashima Y., Kitamura H., Latif F., Zbar B. Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas. Cancer Res. 1994 Jun 1;54(11):2852–2855. [PubMed] [Google Scholar]
  37. Siemeister G., Weindel K., Mohrs K., Barleon B., Martiny-Baron G., Marmé D. Reversion of deregulated expression of vascular endothelial growth factor in human renal carcinoma cells by von Hippel-Lindau tumor suppressor protein. Cancer Res. 1996 May 15;56(10):2299–2301. [PubMed] [Google Scholar]
  38. Tsuchiya H., Iseda T., Hino O. Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product. Cancer Res. 1996 Jul 1;56(13):2881–2885. [PubMed] [Google Scholar]
  39. Whaley J. M., Naglich J., Gelbert L., Hsia Y. E., Lamiell J. M., Green J. S., Collins D., Neumann H. P., Laidlaw J., Li F. P. Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am J Hum Genet. 1994 Dec;55(6):1092–1102. [PMC free article] [PubMed] [Google Scholar]
  40. Wilhelm J., Kalyan N. K., Lee S. G., Hum W. T., Rappaport R., Hung P. P. Deglycosylation increases the fibrinolytic activity of a deletion mutant of tissue-type plasminogen activator. Thromb Haemost. 1990 Jun 28;63(3):464–471. [PubMed] [Google Scholar]
  41. Zbar B., Kishida T., Chen F., Schmidt L., Maher E. R., Richards F. M., Crossey P. A., Webster A. R., Affara N. A., Ferguson-Smith M. A. Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat. 1996;8(4):348–357. doi: 10.1002/(SICI)1098-1004(1996)8:4<348::AID-HUMU8>3.0.CO;2-3. [DOI] [PubMed] [Google Scholar]
  42. Zhuang Z., Bertheau P., Emmert-Buck M. R., Liotta L. A., Gnarra J., Linehan W. M., Lubensky I. A. A microdissection technique for archival DNA analysis of specific cell populations in lesions < 1 mm in size. Am J Pathol. 1995 Mar;146(3):620–625. [PMC free article] [PubMed] [Google Scholar]

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