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Volumn 8, Issue 4, 1996, Pages 348-357

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan

(26)  Zbar, Berton b   Kishida, Takeshi b   Chen, Fan a   Schmidt, Laura a   Maher, Eamonn R c   Richards, Frances M m   Crossey, Paul A c   Webster, Andrew R c   Affara, Nabeel A c   Ferguson Smith, Malcolm A c   Brauch, Hiltrud j   Glavac, Damjan l   Neumann, Hartmut P H i   Tisherman, Sam d   Mulvihill, John J d   Gross, David J k   Shuin, Taro f   Whaley, Jean e   Seizinger, Berndt e   Kley, Nickolai e   more..


Author keywords

Germline mutations; Pheochromocytoma; Renal cell carcinoma; Von Hippel Lindau disease

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; CAUCASIAN; DISEASE ASSOCIATION; EUROPE; GENE MUTATION; HUMAN; JAPAN; KIDNEY CARCINOMA; NORTH AMERICA; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROGNOSIS; VON HIPPEL LINDAU DISEASE;

EID: 16144365122     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:4<348::AID-HUMU8>3.0.CO;2-3     Document Type: Article
Times cited : (454)

References (43)
  • 1
    • 0029084914 scopus 로고
    • Elongin (SIII): A multisubunit regulator of elongation by RNA polymerase II
    • Aso T, Lane WE, Conaway JW, Conaway RC (1995) Elongin (SIII): A multisubunit regulator of elongation by RNA polymerase II. Science 269:1439-1443.
    • (1995) Science , vol.269 , pp. 1439-1443
    • Aso, T.1    Lane, W.E.2    Conaway, J.W.3    Conaway, R.C.4
  • 2
    • 0027295745 scopus 로고
    • A suggested nomenclature for designating mutations
    • Beaudet AL, Tsui L-C. (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248.
    • (1993) Hum Mutat , vol.2 , pp. 245-248
    • Beaudet, A.L.1    Tsui, L.-C.2
  • 5
    • 0028886723 scopus 로고
    • Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL
    • Clinical Research Group for VHL in Japan (1995) Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Hum Mol Genet 4:2233-2237.
    • (1995) Hum Mol Genet , vol.4 , pp. 2233-2237
  • 7
    • 0027363063 scopus 로고
    • Genetic identification of Morn-1, a major modifier locus affected Min-induced intestinal neoplasia
    • Dietrich WF, Lander ES, Smith JS, Moser AR, Could KA, Borenstein N, Dove W (1993) Genetic identification of Morn-1, a major modifier locus affected Min-induced intestinal neoplasia. Cell 75:635-639.
    • (1993) Cell , vol.75 , pp. 635-639
    • Dietrich, W.F.1    Lander, E.S.2    Smith, J.S.3    Moser, A.R.4    Could, K.A.5    Borenstein, N.6    Dove, W.7
  • 11
    • 0027487271 scopus 로고
    • Optimization of the single-strand conformation polymorphism (SSCP) technique for the detection of point mutations
    • Glavac D, Dean M (1993) Optimization of the single-strand conformation polymorphism (SSCP) technique for the detection of point mutations. Hum Mutat 2:404-414.
    • (1993) Hum Mutat , vol.2 , pp. 404-414
    • Glavac, D.1    Dean, M.2
  • 14
    • 0022647031 scopus 로고
    • Von Hippel-Lindau disease in a Newfoundland kindred
    • Green J, Bowmer MI, Johnson GJ (1986) von Hippel-Lindau disease in a Newfoundland kindred. Can Med Assoc J 134:133-138.
    • (1986) Can Med Assoc J , vol.134 , pp. 133-138
    • Green, J.1    Bowmer, M.I.2    Johnson, G.J.3
  • 15
    • 0030064811 scopus 로고    scopus 로고
    • Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene
    • in press
    • Gross DJ, Avishai N, Meiner V, Zbar B, Abeliovich D (1996) Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene. J Clin Endo Metab (in press).
    • (1996) J Clin Endo Metab
    • Gross, D.J.1    Avishai, N.2    Meiner, V.3    Zbar, B.4    Abeliovich, D.5
  • 17
    • 0024342726 scopus 로고
    • Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support
    • Hultman T, Stahl S, Homes E, Uhlen M (1989) Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support. Nucleic Acids Res 17:4937-4945.
    • (1989) Nucleic Acids Res , vol.17 , pp. 4937-4945
    • Hultman, T.1    Stahl, S.2    Homes, E.3    Uhlen, M.4
  • 18
    • 0027938458 scopus 로고
    • Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas
    • Kanno H, Kondo L, Ito S, Yamamoto I, Fujii S, Torigoe T, Sakai N, Hosaka M, Shuin T, Yao M (1994) Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas. Cancer Res 54:4845-4847.
    • (1994) Cancer Res , vol.54 , pp. 4845-4847
    • Kanno, H.1    Kondo, L.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.
    • 1995
    • Kibel A, Iliopoulos O, DeCaprio JA, Kaelin WG Jr. (1995) Binding of the von Hippel-Lindau tumor suppressor protein to elongin B and C. (1995) Science 269:1444-1446.
    • (1995) Science , vol.269 , pp. 1444-1446
    • Kibel, A.1    Iliopoulos, O.2    DeCaprio, J.A.3    Kaelin Jr., W.G.4
  • 21
    • 0028826589 scopus 로고
    • Cellular proteins that bind the von Hippel-Lindau disease gene product: Mapping of binding domains and the effect of missense mutations
    • Kishida T, Stackhouse TM, Chen F, Lerman MI, Zbar B (1995) Cellular proteins that bind the von Hippel-Lindau disease gene product: Mapping of binding domains and the effect of missense mutations. Cancer Res 55:4544-4548.
    • (1995) Cancer Res , vol.55 , pp. 4544-4548
    • Kishida, T.1    Stackhouse, T.M.2    Chen, F.3    Lerman, M.I.4    Zbar, B.5
  • 22
    • 0028240487 scopus 로고
    • A novel donor splice site mutation associated with two mRNAs in von Hippel-Lindau disease
    • Kishida T, Yao M, Chen F, Orcutt ML, Lerman MI, Zbar B (1994) A novel donor splice site mutation associated with two mRNAs in von Hippel-Lindau disease. Hum Mol Genet 3:1191-1192.
    • (1994) Hum Mol Genet , vol.3 , pp. 1191-1192
    • Kishida, T.1    Yao, M.2    Chen, F.3    Orcutt, M.L.4    Lerman, M.I.5    Zbar, B.6
  • 23
    • 0000177603 scopus 로고
    • VHL gene mutation and clear-cell renal carcinoma
    • Knudson AG (1995) VHL gene mutation and clear-cell renal carcinoma. Cancer J Sci Am 1:180-181.
    • (1995) Cancer J Sci Am , vol.1 , pp. 180-181
    • Knudson, A.G.1
  • 24
    • 0024493153 scopus 로고
    • Von Hippel-Lindau disease affecting 43 members of a single kindred
    • Lamiell JM, Salazar FG, Hsia YE (1989) von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine (Baltimore) 68:1-29.
    • (1989) Medicine (Baltimore) , vol.68 , pp. 1-29
    • Lamiell, J.M.1    Salazar, F.G.2    Hsia, Y.E.3
  • 26
    • 0028887421 scopus 로고
    • Identification of the von Hippel-Lindau (VHL) gene. Its role in renal cancer
    • Linehan WM, Lerman MI, Zbar B (1995) Identification of the von Hippel-Lindau (VHL) gene. Its role in renal cancer. JAMA 273:564-570.
    • (1995) JAMA , vol.273 , pp. 564-570
    • Linehan, W.M.1    Lerman, M.I.2    Zbar, B.3
  • 28
    • 50549195332 scopus 로고
    • Lindau's disease. Review of the literature and study of a single large kindred
    • Melmon KL, Rosen SW (1964) Lindau's disease. Review of the literature and study of a single large kindred. Am J Med 36: 595-717.
    • (1964) Am J Med , vol.36 , pp. 595-717
    • Melmon, K.L.1    Rosen, S.W.2
  • 30
    • 0023630505 scopus 로고
    • Basic criteria for clinical diagnosis and genetic counseling in von Hippel-Lindau syndrome
    • Neumann HPH (1987) Basic criteria for clinical diagnosis and genetic counseling in von Hippel-Lindau syndrome. J Vase Dis 16:220-226.
    • (1987) J Vase Dis , vol.16 , pp. 220-226
    • Neumann, H.P.H.1
  • 31
    • 0025863170 scopus 로고
    • Clustering of features of von Hippel-Lindau disease: Evidence of a complex genetic locus
    • Neumann HPH and Wiestler OD (1991) Clustering of features of von Hippel-Lindau disease: Evidence of a complex genetic locus. Lancet 337:1052-1054.
    • (1991) Lancet , vol.337 , pp. 1052-1054
    • Neumann, H.P.H.1    Wiestler, O.D.2
  • 33
    • 0029090153 scopus 로고
    • Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II
    • Neumann HPH, Eng C, Mulligan LM, Glavac D, Zauner I, Ponder BAJ, Crossey P, Maher ER, Brauch H. (1995) Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. JAMA 274:1149-1151.
    • (1995) JAMA , vol.274 , pp. 1149-1151
    • Neumann, H.P.H.1    Eng, C.2    Mulligan, L.M.3    Glavac, D.4    Zauner, I.5    Ponder, B.A.J.6    Crossey, P.7    Maher, E.R.8    Brauch, H.9
  • 34
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahara H, Kanazawa H, Kiyaksi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Nat Acad Sci USA 86:2766-2770.
    • (1989) Proc Nat Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahara, H.2    Kanazawa, H.3    Kiyaksi, K.4    Sekiya, T.5
  • 43
    • 0029614877 scopus 로고
    • Von Hippel-Lindau disease and sporadic renal cell carcinoma
    • Zbar B (1995) von Hippel-Lindau disease and sporadic renal cell carcinoma. Cancer Surveys 25:219-232.
    • (1995) Cancer Surveys , vol.25 , pp. 219-232
    • Zbar, B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.