메뉴 건너뛰기




Volumn 44, Issue 4, 1998, Pages 258-266

Von Hippel-Lindau disease and central nervous system hemangioblastomas: Progress in genetics and clinical management;Maladie de Von Hippel-Lindau et hemangioblastomes du systeme nerveux central: Applications cliniques des progres genetiques

Author keywords

Genetics; Hemangioblastoma; Von Hippel Lindau disease

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 3P; ENDOLYMPHATIC SAC; GENE EXPRESSION REGULATION; GENE MUTATION; HEMANGIOBLASTOMA; HUMAN; KIDNEY CARCINOMA; KIDNEY CYST; VON HIPPEL LINDAU DISEASE;

EID: 0031731434     PISSN: 00283770     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (16)

References (59)
  • 1
    • 0028789213 scopus 로고
    • Somatic mutations of von Hippel-Lindau (VHL) tumor-suppressor gene in European kidney cancer
    • BAILLY M, BAIN C, FAVROT MC, OZTURK M. Somatic mutations of von Hippel-Lindau (VHL) tumor-suppressor gene in European kidney cancer. Int J Cancer 1995 ; 63 : 660-664.
    • (1995) Int J Cancer , vol.63 , pp. 660-664
    • Bailly, M.1    Bain, C.2    Favrot, M.C.3    Ozturk, M.4
  • 2
    • 0025113803 scopus 로고
    • Central nervous system hemangioblastoma : A clinical and genetic study of 52 cases
    • BOUGHEY AM, FLETCHER NA, HARDING AE. Central nervous system hemangioblastoma : a clinical and genetic study of 52 cases. J Neurol Neurosurg Psychiatr 1990 ; 53 : 644-648.
    • (1990) J Neurol Neurosurg Psychiatr , vol.53 , pp. 644-648
    • Boughey, A.M.1    Fletcher, N.A.2    Harding, A.E.3
  • 13
    • 0030091641 scopus 로고    scopus 로고
    • Vascular growth factors and receptors in capillary hemangioblastomas and hemangiopericytomas
    • HATVA E, BOHLING T, JAASKELÄIEN J, PERSICO MG, HALTIA M, ALITALO K. Vascular growth factors and receptors in capillary hemangioblastomas and hemangiopericytomas. Am J Pathol 1996 ; 148 : 763-775.
    • (1996) Am J Pathol , vol.148 , pp. 763-775
    • Hatva, E.1    Bohling, T.2    Jaaskeläien, J.3    Persico, M.G.4    Haltia, M.5    Alitalo, K.6
  • 16
    • 0029090338 scopus 로고
    • Tumor suppression by the human von Hippel-Lindau gene product
    • ILIOPOULOS O, KIBEL A, GRAY S, KAELIN WG. Tumor suppression by the human von Hippel-Lindau gene product. Nature Med 1995 ; 1 : 822-826.
    • (1995) Nature Med , vol.1 , pp. 822-826
    • Iliopoulos, O.1    Kibel, A.2    Gray, S.3    Kaelin, W.G.4
  • 18
    • 0027938458 scopus 로고
    • Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastoma
    • KANNO H, KONDO K, ITO S, YAMAMOTO I, FUJII S, TORIGOE T, SAKAI N, HOSAKA M, SHUIN T, YAO M. Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastoma. Cancer Res 1994 ; 54 : 4845-4847.
    • (1994) Cancer Res , vol.54 , pp. 4845-4847
    • Kanno, H.1    Kondo, K.2    Ito, S.3    Yamamoto, I.4    Fujii, S.5    Torigoe, T.6    Sakai, N.7    Hosaka, M.8    Shuin, T.9    Yao, M.10
  • 20
    • 0029147430 scopus 로고
    • Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C
    • KIBEL A, ILIOPOULOS O, DECAPRIO JA, KAELIN WG. Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C. Science 1995 ; 269 : 1444-1446.
    • (1995) Science , vol.269 , pp. 1444-1446
    • Kibel, A.1    Iliopoulos, O.2    Decaprio, J.A.3    Kaelin, W.G.4
  • 21
    • 0024493153 scopus 로고
    • Von Hippel-Lindau disease affecting 43 members of a single kindred
    • LAMIELL JM, SALAZAR FG, HSIA YE. Von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine 1989 ; 68 : 1-29.
    • (1989) Medicine , vol.68 , pp. 1-29
    • Lamiell, J.M.1    Salazar, F.G.2    Hsia, Y.E.3
  • 23
    • 0029946004 scopus 로고    scopus 로고
    • Nuclear/cytoplasmic localization of th von Hippel-Lindau tumor suppressor gene product is determined by cell density
    • LEE S, CHEN DYT, HUMPHREY JS, GNARRA JR, LINEMAN WM, KLAUSNER RD. Nuclear/cytoplasmic localization of th von Hippel-Lindau tumor suppressor gene product is determined by cell density. Proc Natl Acad Sci USA 1996 ; 93 : 1770-1775.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 1770-1775
    • Lee, S.1    Chen, D.Y.T.2    Humphrey, J.S.3    Gnarra, J.R.4    Lineman, W.M.5    Klausner, R.D.6
  • 24
    • 0029795584 scopus 로고    scopus 로고
    • Hypoxia-inducible protein binding to vascular endothelial growth factor mRNA and its modulation by the von Hippel-Lindau protein
    • LEVY AP, LEVY NS, GOLDBERG MA. Hypoxia-inducible protein binding to vascular endothelial growth factor mRNA and its modulation by the von Hippel-Lindau protein. J Biom Chem 1996 ; 271 : 25492-25497.
    • (1996) J Biom Chem , vol.271 , pp. 25492-25497
    • Levy, A.P.1    Levy, N.S.2    Goldberg, M.A.3
  • 25
    • 0002058311 scopus 로고
    • Studien über Kleinhirnzysten. Bau. Pathogenese und Beziehungen zur Angiomatosis retinae
    • LINDAU A. Studien über Kleinhirnzysten. Bau. Pathogenese und Beziehungen zur Angiomatosis retinae. Acta Pathol Microbiol Scand 1926 ; S1 : 1-128.
    • (1926) Acta Pathol Microbiol Scand , vol.S1 , pp. 1-128
    • Lindau, A.1
  • 26
    • 0028887421 scopus 로고
    • Identification of the von Hippel-Lindau (VHL) gene. Its role in renal cancer
    • LINEHAN WM, LERMAN MI, ZBAR B. Identification of the von Hippel-Lindau (VHL) gene. Its role in renal cancer. JAMA 1995 ; 273 : 564-570.
    • (1995) JAMA , vol.273 , pp. 564-570
    • Linehan, W.M.1    Lerman, M.I.2    Zbar, B.3
  • 28
    • 0029847090 scopus 로고    scopus 로고
    • Allelic deletions of the VHL gene detected in multiple microscopic clear cell renal lesions in von Hippel-Lindau disease patients
    • LUBENSKY IA, GNARRA JR, BERTHEAU P, WALTHER MMc, LINEHAN WM, 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 ; 149 : 2089-2094.
    • (1996) Am J Pathol , vol.149 , pp. 2089-2094
    • Lubensky, I.A.1    Gnarra, J.R.2    Bertheau, P.3    Walther, M.Mc.4    Linehan, W.M.5    Zhuang, Z.6
  • 30
    • 0031445126 scopus 로고    scopus 로고
    • Von Hippel-Lindau disease. Molecular review
    • MAKER ER, KAELIN W. Von Hippel-Lindau disease. Molecular review. Medicine 1997 ; 76 : 381-391.
    • (1997) Medicine , vol.76 , pp. 381-391
    • Maker, E.R.1    Kaelin, W.2
  • 31
    • 0025314788 scopus 로고
    • Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma
    • MAHER ER, YATES JRW, FERGUSON-SMITH MA. 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 ; 27 : 311-314.
    • (1990) J Med Genet , vol.27 , pp. 311-314
    • Maher, E.R.1    Yates, J.R.W.2    Ferguson-Smith, M.A.3
  • 36
    • 0029090153 scopus 로고
    • Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia type 2
    • NEUMANN HPH, ENG C, MULLIGAN L, GLAVAC D, PONDER B, CROSSEY P, MAHER E, BRAUCH H. Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia type 2. JAMA 1995 ; 274 : 1149-1151.
    • (1995) JAMA , vol.274 , pp. 1149-1151
    • Neumann, H.P.H.1    Eng, C.2    Mulligan, L.3    Glavac, D.4    Ponder, B.5    Crossey, P.6    Maher, E.7    Brauch, H.8
  • 39
    • 0029893946 scopus 로고    scopus 로고
    • Mutation of the von Hippel-Lindau tumour suppressor gene in capillary haemangioblastomas of the central nervous system
    • OBERSTRASS J, REIFENBERGER G, WECHSLER W, COLLINS VP. Mutation of the von Hippel-Lindau tumour suppressor gene in capillary haemangioblastomas of the central nervous system. J Pathol 1996 ; 179 : 151-156.
    • (1996) J Pathol , vol.179 , pp. 151-156
    • Oberstrass, J.1    Reifenberger, G.2    Wechsler, W.3    Collins, V.P.4
  • 40
    • 0029062140 scopus 로고
    • DNA-based presymptomatic diagnosis for the von Hippel-Lindau disease by linkage analysis
    • OLSCHWANG S, RICHARD S, BOISSON C, RESCHE F, THOMAS G. DNA-based presymptomatic diagnosis for the von Hippel-Lindau disease by linkage analysis. Eur J Hum Genet 1995 ; 3 : 108-115.
    • (1995) Eur J Hum Genet , vol.3 , pp. 108-115
    • Olschwang, S.1    Richard, S.2    Boisson, C.3    Resche, F.4    Thomas, G.5
  • 42
    • 0030792089 scopus 로고    scopus 로고
    • Papillary adenoma of endolymphatic sac origin : A temporal bone tumor in von Hippel-Lindau disease
    • OUALLET JC, MARSOT-DUPUCH K, VAN EFFENTERRE R, KUJAS M, TUBIANA JM. Papillary adenoma of endolymphatic sac origin : a temporal bone tumor in von Hippel-Lindau disease. J Neurosurg 1997 ; 87 : 445-449.
    • (1997) J Neurosurg , vol.87 , pp. 445-449
    • Ouallet, J.C.1    Marsot-Dupuch, K.2    Van Effenterre, R.3    Kujas, M.4    Tubiana, J.M.5
  • 52
    • 0029920054 scopus 로고    scopus 로고
    • Reversion of deregulated expression of vascular endothelial growth factor in human renal cell carcinoma cells by von Hippel-Lindau tumor suppressor protein
    • SIEMEISTER G, WEINDEL K, MOHRS K, BARLEON B, MATINY-BARON G, MARME D. Reversion of deregulated expression of vascular endothelial growth factor in human renal cell carcinoma cells by von Hippel-Lindau tumor suppressor protein. Cancer Res 1996; 56: 2299-2301.
    • (1996) Cancer Res , vol.56 , pp. 2299-2301
    • Siemeister, G.1    Weindel, K.2    Mohrs, K.3    Barleon, B.4    Matiny-Baron, G.5    Marme, D.6
  • 53
    • 0029864134 scopus 로고    scopus 로고
    • Statement of the American Society of Clinical Oncology : Genetic testing for cancer susceptibility
    • Statement of the American Society of Clinical Oncology : Genetic testing for cancer susceptibility. J Clin Oncol 1996 ; 14 : 1730-1736.
    • (1996) J Clin Oncol , vol.14 , pp. 1730-1736
  • 56
    • 0000492351 scopus 로고
    • Vorstellung eines Patienten mit einer sehr ungewöhnlichen Netzhaut
    • Heidelberg, Wiesbaden JF Bergmann Verlag
    • Von Hippel E. Vorstellung eines Patienten mit einer sehr ungewöhnlichen Netzhaut. XXIV Verstellung der ophtalmologischen Gesellschaft (Heidelberg, 1895). Wiesbaden JF Bergmann Verlag, 269.
    • (1895) XXIV Verstellung der Ophtalmologischen Gesellschaft , pp. 269
    • Von Hippel, E.1
  • 57
    • 0030880947 scopus 로고    scopus 로고
    • Allelic deletion and mutation of the von Hippel-Lindau (VHL) tumor suppressor gene in pancreatic microcystic adenomas
    • Vortmeyer AO, Lubensky IA, Fogt F, Linehan WM, Khettry U, Zhuang Z. Allelic deletion and mutation of the von Hippel-Lindau (VHL) tumor suppressor gene in pancreatic microcystic adenomas. Am J Pathol 1997; 151: 951-956.
    • (1997) Am J Pathol , vol.151 , pp. 951-956
    • Vortmeyer, A.O.1    Lubensky, I.A.2    Fogt, F.3    Linehan, W.M.4    Khettry, U.5    Zhuang, Z.6
  • 58
    • 0028929991 scopus 로고
    • Upregulation of vascular endothelial growth factor and its receptors in von Hippel-Lindau disease-associated and sporadic hemangioblastoma
    • WIZIGMANN-VOOS S, BREUIER G, RISAU W, PLATE KH Upregulation of vascular endothelial growth factor and its receptors in von Hippel-Lindau disease-associated and sporadic hemangioblastoma. Cancer Res 1995; 55: 1358-1364.
    • (1995) Cancer Res , vol.55 , pp. 1358-1364
    • Wizigmann-Voos, S.1    Breuier, G.2    Risau, W.3    Plate, K.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.