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Volumn 15, Issue 3, 2008, Pages 165-171

Von Hippel-Lindau (VHL) disease: An update on the clinico-pathologic and genetic aspects

Author keywords

Genetics; Pathology; Von Hippel Lindau disease

Indexed keywords

CANCER SUSCEPTIBILITY; CYSTADENOMA; DISEASE COURSE; GENE MUTATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HEMANGIOBLASTOMA; HUMAN; KIDNEY CARCINOMA; KIDNEY CYST; MOLECULAR GENETICS; PANCREAS DISEASE; PATHOGENESIS; PATHOLOGY; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; REVIEW; TUMOR GROWTH; VON HIPPEL LINDAU DISEASE;

EID: 42549160999     PISSN: 10724109     EISSN: 15334031     Source Type: Journal    
DOI: 10.1097/PAP.0b013e31816f852e     Document Type: Review
Times cited : (43)

References (69)
  • 1
    • 0025000210 scopus 로고
    • Clinical features and natural history of von Hippel Lindau disease
    • Maher ER, Yates JRW, Harries R, et al. Clinical features and natural history of von Hippel Lindau disease. Q J Med. 1990;77:1151-1163.
    • (1990) Q J Med , vol.77 , pp. 1151-1163
    • Maher, E.R.1    Yates, J.R.W.2    Harries, R.3
  • 3
    • 0031042949 scopus 로고    scopus 로고
    • Renal cysts, renal cancer and von Hippel-Lindau disease
    • Neumann HPH, Zbar B. Renal cysts, renal cancer and von Hippel-Lindau disease. Kid Int. 1997;51:16-26.
    • (1997) Kid Int , vol.51 , pp. 16-26
    • Neumann, H.P.H.1    Zbar, B.2
  • 5
    • 0031837459 scopus 로고    scopus 로고
    • Haemangioblastoma of the central nervous system in von Hippel Lindau disease. French vHL Study Group
    • Richard S, Campello C, Talliender L, et al. Haemangioblastoma of the central nervous system in von Hippel Lindau disease. French vHL Study Group. J Intern Med. 1998;243:547-553.
    • (1998) J Intern Med , vol.243 , pp. 547-553
    • Richard, S.1    Campello, C.2    Talliender, L.3
  • 6
    • 0031000389 scopus 로고    scopus 로고
    • Epididymal cystadenomas in von Hippel-Lindau disease
    • Choyke PL, Glenn GM, Wagner JP, et al. Epididymal cystadenomas in von Hippel-Lindau disease. Urology. 1997;49:926-931.
    • (1997) Urology , vol.49 , pp. 926-931
    • Choyke, P.L.1    Glenn, G.M.2    Wagner, J.P.3
  • 7
    • 0028077208 scopus 로고    scopus 로고
    • Maher ER. von Hippel-Lindau disease. Eur J Cancer. 1994;30:1987-1990.
    • Maher ER. von Hippel-Lindau disease. Eur J Cancer. 1994;30:1987-1990.
  • 8
    • 0028938702 scopus 로고
    • von Hippel-Lindau disease: Genetic, clinical and imaging features
    • Choyke PL, Glenn GM, Walther MM, et al. von Hippel-Lindau disease: genetic, clinical and imaging features. Radiology. 1995;194:629-642.
    • (1995) Radiology , vol.194 , pp. 629-642
    • Choyke, P.L.1    Glenn, G.M.2    Walther, M.M.3
  • 9
    • 0034112927 scopus 로고    scopus 로고
    • Gutjahr P. von Hippel-Lindau disease. Neurosurg Rev. 2000;23:23.
    • Gutjahr P. von Hippel-Lindau disease. Neurosurg Rev. 2000;23:23.
  • 10
    • 0028243346 scopus 로고
    • The phakomatoses: Part II: von Hippel-Lindau disease, Sturge Weber syndrome, and less common conditions
    • Braffman B, Naidich TP. The phakomatoses: part II: von Hippel-Lindau disease, Sturge Weber syndrome, and less common conditions. Neuroimaging Clin North Am. 1994;4:325-348.
    • (1994) Neuroimaging Clin North Am , vol.4 , pp. 325-348
    • Braffman, B.1    Naidich, T.P.2
  • 11
    • 0031047993 scopus 로고    scopus 로고
    • The von-Hippel-Lindau tumor suppressor gene: A rare and intriguing disease opening new insight into basic mechanisms of carcinogenesis
    • Decker HJH, Weidt EJ, Brieger J. The von-Hippel-Lindau tumor suppressor gene: a rare and intriguing disease opening new insight into basic mechanisms of carcinogenesis. Cancer Genet Cytogenet. 1997;93:74-83.
    • (1997) Cancer Genet Cytogenet , vol.93 , pp. 74-83
    • Decker, H.J.H.1    Weidt, E.J.2    Brieger, J.3
  • 14
    • 0029029562 scopus 로고
    • von Hippel-Lindau disease
    • Enterline DS, Davey NC, Tien RD, et al. von Hippel-Lindau disease. AJR. 1995;165:212-213.
    • (1995) AJR , vol.165 , pp. 212-213
    • Enterline, D.S.1    Davey, N.C.2    Tien, R.D.3
  • 15
    • 0028967117 scopus 로고
    • Pregnancy complicated by von Hippel-Lindau disease
    • Ogasawara KK, Ogasawara EM, Hirata G. Pregnancy complicated by von Hippel-Lindau disease. Obst Gynecol. 1995;85:829-831.
    • (1995) Obst Gynecol , vol.85 , pp. 829-831
    • Ogasawara, K.K.1    Ogasawara, E.M.2    Hirata, G.3
  • 16
    • 0030958304 scopus 로고    scopus 로고
    • von Hippel-Lindau gene deletion detected in the stromal cell component of a cerebellar hemangioblastoma associated with von Hippel-Lindau disease
    • Vortmeyer AO, Gnarra JR, Emmert-Buck MR, et al. von Hippel-Lindau gene deletion detected in the stromal cell component of a cerebellar hemangioblastoma associated with von Hippel-Lindau disease. Hum Pathol. 1997;28:540-543.
    • (1997) Hum Pathol , vol.28 , pp. 540-543
    • Vortmeyer, A.O.1    Gnarra, J.R.2    Emmert-Buck, M.R.3
  • 17
    • 34147125874 scopus 로고    scopus 로고
    • Metastatic renal cell carcinoma to hemangioblastoma in von Hippel-Lindau disease
    • Polydrides AD, Rosenblum MK, Edgar MA. Metastatic renal cell carcinoma to hemangioblastoma in von Hippel-Lindau disease. Arch Pathol Lab Med. 2007;131:641-645.
    • (2007) Arch Pathol Lab Med , vol.131 , pp. 641-645
    • Polydrides, A.D.1    Rosenblum, M.K.2    Edgar, M.A.3
  • 18
    • 0031945775 scopus 로고    scopus 로고
    • Multiple intracerebral haemangioblastomas in identical twins with von Hippel-Lindau disease: A Clinical and Molecular Study
    • Sobottka SB, Frank S, Hampl M, et al. Multiple intracerebral haemangioblastomas in identical twins with von Hippel-Lindau disease: a Clinical and Molecular Study. Acta Neurochir. 1998;140:281-285.
    • (1998) Acta Neurochir , vol.140 , pp. 281-285
    • Sobottka, S.B.1    Frank, S.2    Hampl, M.3
  • 19
    • 20344396126 scopus 로고    scopus 로고
    • Immunoreactivity of CD10 and inhibin alpha in differentiating hemangioblastoma of central nervous system from metastatic clear cell renal cell carcinoma
    • Jung SM, Kuo TT. Immunoreactivity of CD10 and inhibin alpha in differentiating hemangioblastoma of central nervous system from metastatic clear cell renal cell carcinoma. Mod Pathol. 2005;18:788-794.
    • (2005) Mod Pathol , vol.18 , pp. 788-794
    • Jung, S.M.1    Kuo, T.T.2
  • 20
    • 0034025449 scopus 로고    scopus 로고
    • GLUT1 immunoreaction patterns reliably distinguish hemangioblastoma from metastatic renal cell carcinoma
    • North PE, Mizeracki A, Mihm MC Jr, et al. GLUT1 immunoreaction patterns reliably distinguish hemangioblastoma from metastatic renal cell carcinoma. Clin Neuropathol. 2000;19:131-137.
    • (2000) Clin Neuropathol , vol.19 , pp. 131-137
    • North, P.E.1    Mizeracki, A.2    Mihm Jr, M.C.3
  • 21
    • 0031445126 scopus 로고    scopus 로고
    • von Hippel-Lindau disease
    • Maher ER, Kaelin WG. von Hippel-Lindau disease. Medicine. 1997;76:381-391.
    • (1997) Medicine , vol.76 , pp. 381-391
    • Maher, E.R.1    Kaelin, W.G.2
  • 22
    • 0030423208 scopus 로고    scopus 로고
    • Inherited renal cell carcinoma
    • Maher ER. Inherited renal cell carcinoma. Br J Urol. 1996;78:542-545.
    • (1996) Br J Urol , vol.78 , pp. 542-545
    • Maher, E.R.1
  • 23
    • 0029744920 scopus 로고    scopus 로고
    • Renal involvement in von Hippel-Lindau disease
    • Chauveau D, Duvic C, Chrétien Y, et al. Renal involvement in von Hippel-Lindau disease. Kidney Intern. 1996;50:944-951.
    • (1996) Kidney Intern , vol.50 , pp. 944-951
    • Chauveau, D.1    Duvic, C.2    Chrétien, Y.3
  • 24
    • 0034030085 scopus 로고    scopus 로고
    • Renal lesions in von Hippel-Lindau disease: Immunohistochemical expression of nephron differentiation molecules, adhesion molecules and apoptosis proteins
    • Paraf F, Chauveau D, Chretien Y, et al. Renal lesions in von Hippel-Lindau disease: immunohistochemical expression of nephron differentiation molecules, adhesion molecules and apoptosis proteins. Histopathology. 2000;36:457-465.
    • (2000) Histopathology , vol.36 , pp. 457-465
    • Paraf, F.1    Chauveau, D.2    Chretien, Y.3
  • 25
    • 0028788184 scopus 로고
    • Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumor suppressor gene in sporadic and syndromic phaeochromocytomas
    • Eng CH, Crossey PA, Mulligan LM, et al. Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumor suppressor gene in sporadic and syndromic phaeochromocytomas. J Med Genet. 1995;32:934-937.
    • (1995) J Med Genet , vol.32 , pp. 934-937
    • Eng, C.H.1    Crossey, P.A.2    Mulligan, L.M.3
  • 26
    • 42549159651 scopus 로고    scopus 로고
    • Molecular pathology of von Hippel-Lindau disease and the VHL tumour suppressor gene
    • Available at
    • Richards M. Molecular pathology of von Hippel-Lindau disease and the VHL tumour suppressor gene. Expert Rev Mol Med. Available at: http://www-ermm.cbcu.cam.ac.uk.
    • Expert Rev Mol Med
    • Richards, M.1
  • 27
    • 0037323423 scopus 로고    scopus 로고
    • A comparison of biochemical tests for pheochromocytoma: Measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines
    • Sawka AM, Jaeschke R, Singh RJ, et al. A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines. J Endocrinol Metab. 2003;88:553-558.
    • (2003) J Endocrinol Metab , vol.88 , pp. 553-558
    • Sawka, A.M.1    Jaeschke, R.2    Singh, R.J.3
  • 28
    • 0030064811 scopus 로고    scopus 로고
    • Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene
    • Gross DJ, Avishai A, Meiner V, et al. Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene. J Clin Endocrinol Metab. 1996;81:147-149.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 147-149
    • Gross, D.J.1    Avishai, A.2    Meiner, V.3
  • 29
    • 0029864421 scopus 로고    scopus 로고
    • Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease
    • Ritter MM, Frilling A, Crossey PA, et al. Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. J Clin Endocrol Metab. 1996;81:1035-1037.
    • (1996) J Clin Endocrol Metab , vol.81 , pp. 1035-1037
    • Ritter, M.M.1    Frilling, A.2    Crossey, P.A.3
  • 30
    • 0034107598 scopus 로고    scopus 로고
    • Pancreatic lesions in von Hippel-Lindau syndrome: The coexistence of metastatic tumors from renal cell carcinoma and multiple cysts
    • Kogire M, Hosotani R, Kondo M, et al. Pancreatic lesions in von Hippel-Lindau syndrome: the coexistence of metastatic tumors from renal cell carcinoma and multiple cysts. Surg Today. 2000;30:380-382.
    • (2000) Surg Today , vol.30 , pp. 380-382
    • Kogire, M.1    Hosotani, R.2    Kondo, M.3
  • 31
    • 0031038573 scopus 로고    scopus 로고
    • Management of pancreatic lesions in von Hippel-Lindau disease
    • Chen TY, Su CH, Shyr YM, et al. Management of pancreatic lesions in von Hippel-Lindau disease. World J Surg. 1997;21:307-312.
    • (1997) World J Surg , vol.21 , pp. 307-312
    • Chen, T.Y.1    Su, C.H.2    Shyr, Y.M.3
  • 32
    • 0023810573 scopus 로고
    • Aggressive papillary middle ear tumor: A clinicopathologic entity distinct from middle-ear adenoma
    • Gaffey MJ, Mills SE, Fechner RE, et al. Aggressive papillary middle ear tumor: a clinicopathologic entity distinct from middle-ear adenoma. Am J Surg Pathol. 1988;12:790-797.
    • (1988) Am J Surg Pathol , vol.12 , pp. 790-797
    • Gaffey, M.J.1    Mills, S.E.2    Fechner, R.E.3
  • 33
    • 0029149017 scopus 로고
    • Endolymphatic sac tumors: Histopathologic conformation, clinical characterization, an implication in von Hippel-Lindau disease
    • Megerian CA, McKenna MJ, Nuss RC, et al. Endolymphatic sac tumors: histopathologic conformation, clinical characterization, an implication in von Hippel-Lindau disease. Laryngoscope. 1995;105:801-808.
    • (1995) Laryngoscope , vol.105 , pp. 801-808
    • Megerian, C.A.1    McKenna, M.J.2    Nuss, R.C.3
  • 34
    • 0024458506 scopus 로고
    • Low-grade adenocarcinoma of probable endolymphatic sac origin: A clinicopathologic study of 20 cases
    • Heffner DK. Low-grade adenocarcinoma of probable endolymphatic sac origin: a clinicopathologic study of 20 cases. Cancer. 1989;64:2292-2302.
    • (1989) Cancer , vol.64 , pp. 2292-2302
    • Heffner, D.K.1
  • 35
    • 20244383434 scopus 로고    scopus 로고
    • Endolymphatic sac tumors: A source of morbid hearing loss in von Hippel-Lindau disease
    • Manski TJ, Heffner DK, Glenn GM, et al. Endolymphatic sac tumors: a source of morbid hearing loss in von Hippel-Lindau disease. JAMA. 1997;277:1461-1466.
    • (1997) JAMA , vol.277 , pp. 1461-1466
    • Manski, T.J.1    Heffner, D.K.2    Glenn, G.M.3
  • 36
    • 0029798627 scopus 로고    scopus 로고
    • von Hippel-Lindau disease and familial polyposis coli in the same family
    • Kilmartin DJ, Mooney DJ, Acheson RW, et al. von Hippel-Lindau disease and familial polyposis coli in the same family. Arch Ophthalmol. 1996;114:1294.
    • (1996) Arch Ophthalmol , vol.114 , pp. 1294
    • Kilmartin, D.J.1    Mooney, D.J.2    Acheson, R.W.3
  • 37
    • 0029830696 scopus 로고    scopus 로고
    • Deafness due to bilateral endolymphatic sac tumors in a case of von Hippel-Lindau syndrome
    • Kempermann G, Neumann HPH, Scheremet R, et al. Deafness due to bilateral endolymphatic sac tumors in a case of von Hippel-Lindau syndrome. J Neurol Neurosurg Psychiatry. 1996;61:318-320.
    • (1996) J Neurol Neurosurg Psychiatry , vol.61 , pp. 318-320
    • Kempermann, G.1    Neumann, H.P.H.2    Scheremet, R.3
  • 38
    • 0030959665 scopus 로고    scopus 로고
    • Tumor of the broad ligament in von Hippel-Lindau disease of probable Mullerian origin
    • Werness BA, Guccion JC. Tumor of the broad ligament in von Hippel-Lindau disease of probable Mullerian origin. Int J Gynecol Pathol. 1997;16:282-285.
    • (1997) Int J Gynecol Pathol , vol.16 , pp. 282-285
    • Werness, B.A.1    Guccion, J.C.2
  • 39
    • 0030045593 scopus 로고    scopus 로고
    • Intrasellar paraganglioma: A report of a case in a sibship of von Hippel-Lindau disease
    • Scheithauer BW, Parameswaran A, Burdick B. Intrasellar paraganglioma: a report of a case in a sibship of von Hippel-Lindau disease. Neurosurgery. 1996;38:395-398.
    • (1996) Neurosurgery , vol.38 , pp. 395-398
    • Scheithauer, B.W.1    Parameswaran, A.2    Burdick, B.3
  • 40
    • 0029612263 scopus 로고
    • von Hippel-Lindau disease complicated by acute pancreatitis and Evan's syndrome
    • Tenner S, Roston A, Lichtenstein D, et al. von Hippel-Lindau disease complicated by acute pancreatitis and Evan's syndrome. Int J Pancreatol. 1995;18:271-275.
    • (1995) Int J Pancreatol , vol.18 , pp. 271-275
    • Tenner, S.1    Roston, A.2    Lichtenstein, D.3
  • 41
    • 0036891911 scopus 로고    scopus 로고
    • Polycythemia secondary to cerebellar hemangioblastoma
    • So CC, Ho L. Polycythemia secondary to cerebellar hemangioblastoma. Am J Hematol. 2002;71:346-347.
    • (2002) Am J Hematol , vol.71 , pp. 346-347
    • So, C.C.1    Ho, L.2
  • 42
    • 19144371868 scopus 로고    scopus 로고
    • A genetic register for von Hippel Lindau disease
    • Maddock IR, Moran A, Maher ER, et al. A genetic register for von Hippel Lindau disease. J Med Genet. 1996;33:120-127.
    • (1996) J Med Genet , vol.33 , pp. 120-127
    • Maddock, I.R.1    Moran, A.2    Maher, E.R.3
  • 43
    • 0034794158 scopus 로고    scopus 로고
    • Molecular pathogenesis of the von Hippel-Lindau hereditary cancer syndrome: Implications for oxygen sensing
    • Yang H, Kaelin WG Jr. Molecular pathogenesis of the von Hippel-Lindau hereditary cancer syndrome: implications for oxygen sensing. Cell Growth Diff. 2001;12:447-455.
    • (2001) Cell Growth Diff , vol.12 , pp. 447-455
    • Yang, H.1    Kaelin Jr., W.G.2
  • 44
    • 0028063146 scopus 로고
    • Recognition and management of von Hippel-Lindau disease
    • Lesho EP. Recognition and management of von Hippel-Lindau disease. Am Fam Phys. 1994;50:1269-1272.
    • (1994) Am Fam Phys , vol.50 , pp. 1269-1272
    • Lesho, E.P.1
  • 45
    • 0035683789 scopus 로고    scopus 로고
    • Sims KB. von Hippel-Lindau disease: gene to bedside. Curr Opin Neurol. 2001;14:695-703.
    • Sims KB. von Hippel-Lindau disease: gene to bedside. Curr Opin Neurol. 2001;14:695-703.
  • 46
    • 33745879744 scopus 로고    scopus 로고
    • von Hippel-Lindau disease: Molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment
    • Shuin T, Yamasaki I, Tamura K, et al. von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment. Jpn J Clin Oncol. 2006;36:337-343.
    • (2006) Jpn J Clin Oncol , vol.36 , pp. 337-343
    • Shuin, T.1    Yamasaki, I.2    Tamura, K.3
  • 47
    • 33846205060 scopus 로고    scopus 로고
    • Molecular pathology of eyes with von Hippel-Lindau (VHL) disease: A review
    • Chan CC, Collins AB, Chew EY. Molecular pathology of eyes with von Hippel-Lindau (VHL) disease: a review. Retina. 2007;27:1-7.
    • (2007) Retina , vol.27 , pp. 1-7
    • Chan, C.C.1    Collins, A.B.2    Chew, E.Y.3
  • 48
    • 0035835819 scopus 로고    scopus 로고
    • The von Hippel-Lindau tumor suppressor gene
    • Kondo K, Kaelin WG Jr. The von Hippel-Lindau tumor suppressor gene. Exp Cell Res. 2001;264:117-125.
    • (2001) Exp Cell Res , vol.264 , pp. 117-125
    • Kondo, K.1    Kaelin Jr., W.G.2
  • 49
    • 33746807862 scopus 로고    scopus 로고
    • Ubiquitin pathway in VHL cancer syndrome
    • Ohh M. Ubiquitin pathway in VHL cancer syndrome. Neoplasia. 2006;8:623-629.
    • (2006) Neoplasia , vol.8 , pp. 623-629
    • Ohh, M.1
  • 50
    • 0142182783 scopus 로고    scopus 로고
    • The von Hippel-Lindau gene, kidney cancer, and oxygen sensing
    • Kaelin WG Jr. The von Hippel-Lindau gene, kidney cancer, and oxygen sensing. J Am Soc Nephrol. 2003;14:2703-2711.
    • (2003) J Am Soc Nephrol , vol.14 , pp. 2703-2711
    • Kaelin Jr., W.G.1
  • 51
    • 33846879810 scopus 로고    scopus 로고
    • The von Hippel-Lindau tumor suppressor protein and clear cell renal carcinoma
    • Kaelin WG. The von Hippel-Lindau tumor suppressor protein and clear cell renal carcinoma. Clin Cancer Res. 2007;13:680s-684s.
    • (2007) Clin Cancer Res , vol.13
    • Kaelin, W.G.1
  • 52
    • 0036846195 scopus 로고    scopus 로고
    • VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V
    • Weirich G, Klein B, Wohl T, et al. VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. J Clin Endoc Metab. 2002;87:5241-5246.
    • (2002) J Clin Endoc Metab , vol.87 , pp. 5241-5246
    • Weirich, G.1    Klein, B.2    Wohl, T.3
  • 53
    • 0029147430 scopus 로고
    • Binding of the von Hippel-Lindau suppressor protein to elongin B and C
    • Kibel A, Iliopulos O, DeCaprio J, et al. Binding of the von Hippel-Lindau suppressor protein to elongin B and C. Science. 1995;269:1444-1446.
    • (1995) Science , vol.269 , pp. 1444-1446
    • Kibel, A.1    Iliopulos, O.2    DeCaprio, J.3
  • 54
    • 0036528246 scopus 로고    scopus 로고
    • Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein
    • Kondo K, Klco J, Nakamura E, et al. Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein. Cancer Cell. 2002;1:237-246.
    • (2002) Cancer Cell , vol.1 , pp. 237-246
    • Kondo, K.1    Klco, J.2    Nakamura, E.3
  • 55
    • 0030953635 scopus 로고    scopus 로고
    • The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins
    • Pause S, Lee RA, Worrell DYT, et al. The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins. Proc Natl Acad Sci USA. 1997;94:2156-2161.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 2156-2161
    • Pause, S.1    Lee, R.A.2    Worrell, D.Y.T.3
  • 57
    • 0035339044 scopus 로고    scopus 로고
    • Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease
    • Clifford S, Cockman ME, Smallwood AC, et al. Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease. Hum Mol Genet. 2001;10:1029-1038.
    • (2001) Hum Mol Genet , vol.10 , pp. 1029-1038
    • Clifford, S.1    Cockman, M.E.2    Smallwood, A.C.3
  • 58
    • 0033404668 scopus 로고    scopus 로고
    • Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein
    • Ohh M, Takagi Y, Aso T, et al. Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein. J Clin Invest. 1999;104:1583-1591.
    • (1999) J Clin Invest , vol.104 , pp. 1583-1591
    • Ohh, M.1    Takagi, Y.2    Aso, T.3
  • 59
    • 2942689618 scopus 로고    scopus 로고
    • The role of von Hippel-Lindau tumor suppressor protein and hypoxia in renal clear cell carcinoma
    • Sufan RI, Jewett MA, Ohh M. The role of von Hippel-Lindau tumor suppressor protein and hypoxia in renal clear cell carcinoma. Am J Physiol Renal Physiol. 2004;287:F1-F6.
    • (2004) Am J Physiol Renal Physiol , vol.287
    • Sufan, R.I.1    Jewett, M.A.2    Ohh, M.3
  • 61
    • 0033587146 scopus 로고    scopus 로고
    • The tumor suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
    • Maxwell H, Wiesener MS, Chang G, et al. The tumor suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature. 1999;399:271-275.
    • (1999) Nature , vol.399 , pp. 271-275
    • Maxwell, H.1    Wiesener, M.S.2    Chang, G.3
  • 62
    • 0034676331 scopus 로고    scopus 로고
    • Up-regulation of hypoxia-inducible factors HIF-1α and HIF-2α under normoxic conditions in renal carcinoma cells by von Hippel-Lindau tumor suppressor gene loss of function
    • Krieg M, Haas R, Brauch H, et al. Up-regulation of hypoxia-inducible factors HIF-1α and HIF-2α under normoxic conditions in renal carcinoma cells by von Hippel-Lindau tumor suppressor gene loss of function. Oncogene. 2000;19:5435-5443.
    • (2000) Oncogene , vol.19 , pp. 5435-5443
    • Krieg, M.1    Haas, R.2    Brauch, H.3
  • 63
    • 0031027287 scopus 로고    scopus 로고
    • Regulation of vascular endothelial growth factor by hypoxia and its modulation by the von Hippel-Lindau tumor suppressor gene
    • Levy AP, Levy NS, Iliopulos O, et al. Regulation of vascular endothelial growth factor by hypoxia and its modulation by the von Hippel-Lindau tumor suppressor gene. Kid Intern. 1997;51:575-578.
    • (1997) Kid Intern , vol.51 , pp. 575-578
    • Levy, A.P.1    Levy, N.S.2    Iliopulos, O.3
  • 64
    • 0035253381 scopus 로고    scopus 로고
    • The von Hippel-Lindau tumor suppressor protein
    • Ivan M, Kaelin WG Jr. The von Hippel-Lindau tumor suppressor protein. Curr Opin Genet Dev. 2001;11:27-34.
    • (2001) Curr Opin Genet Dev , vol.11 , pp. 27-34
    • Ivan, M.1    Kaelin Jr., W.G.2
  • 65
    • 0036631512 scopus 로고    scopus 로고
    • Cybulski C, Krzystolik K, Murgia A, et al. Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene. J Med Genet. 2002;39:e38.
    • Cybulski C, Krzystolik K, Murgia A, et al. Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene. J Med Genet. 2002;39:e38.
  • 66
    • 0033051828 scopus 로고    scopus 로고
    • The von Hippel-Lindau tumor suppressor protein: New perspectives
    • Ohh M, Kaelin WG Jr. The von Hippel-Lindau tumor suppressor protein: new perspectives. Mol Med Today. 1999;5:257-263.
    • (1999) Mol Med Today , vol.5 , pp. 257-263
    • Ohh, M.1    Kaelin Jr., W.G.2
  • 67
    • 0037326037 scopus 로고    scopus 로고
    • The von Hippel-Lindau tumor suppressor, hypoxia inducible factor-1 (HIF-1) degradation, and cancer pathogenesis
    • Pugh CW, Ratcliffe PJ. The von Hippel-Lindau tumor suppressor, hypoxia inducible factor-1 (HIF-1) degradation, and cancer pathogenesis. Sem Cancer Biol. 2003;13:83-89.
    • (2003) Sem Cancer Biol , vol.13 , pp. 83-89
    • Pugh, C.W.1    Ratcliffe, P.J.2
  • 68
    • 13844254987 scopus 로고    scopus 로고
    • Gene expression analysis of renal carcinoma: Adipose differentiation-related protein as a potential diagnostic and prognostic biomarker for clear-cell renal carcinoma
    • Yao M, Tabuchi H, Nagashima Y, et al. Gene expression analysis of renal carcinoma: adipose differentiation-related protein as a potential diagnostic and prognostic biomarker for clear-cell renal carcinoma. J Pathol. 2005;205:377-387.
    • (2005) J Pathol , vol.205 , pp. 377-387
    • Yao, M.1    Tabuchi, H.2    Nagashima, Y.3
  • 69
    • 33646127170 scopus 로고    scopus 로고
    • The VHL/HIF oxygen-sensing pathway and its relevance to kidney disease
    • Haase VH. The VHL/HIF oxygen-sensing pathway and its relevance to kidney disease. Kidney Int. 2006;69:1302-1307.
    • (2006) Kidney Int , vol.69 , pp. 1302-1307
    • Haase, V.H.1


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