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Volumn 91, Issue 2, 2000, Pages 204-212

Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: An extended study of 77 families

Author keywords

Germ line; Mutation; Polymorphism; Tumor suppressor; VHL gene

Indexed keywords

ARTICLE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; GERM LINE; HUMAN; KIDNEY CARCINOMA; MAJOR CLINICAL STUDY; PATHOGENESIS; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; VON HIPPEL LINDAU DISEASE;

EID: 0034062099     PISSN: 09105050     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1349-7006.2000.tb00933.x     Document Type: Article
Times cited : (45)

References (36)
  • 5
    • 0027938458 scopus 로고
    • Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas
    • Kanno, H., Kondo, K., Ito, S., Yamamoto, I., Fujii, S., Torigoe, S., Sakai, N., Hosaka, M., Shuin, T. and Yao, M. Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas. Cancer Res., 54, 4845-4847 (1994).
    • (1994) Cancer Res. , vol.54 , pp. 4845-4847
    • Kanno, H.1    Kondo, K.2    Ito, S.3    Yamamoto, I.4    Fujii, S.5    Torigoe, S.6    Sakai, N.7    Hosaka, M.8    Shuin, T.9    Yao, M.10
  • 6
    • 0029597773 scopus 로고
    • Somatic von Hippel-Lindau mutation in clear cell papillary cystadenoma of the epididymis
    • Gilcrease, M. Z., Schmidt, L., Zbar, B., Truong, L., Rutledge, M. and Wheeler, T. M. Somatic von Hippel-Lindau mutation in clear cell papillary cystadenoma of the epididymis. Hum. Pathol., 26, 1341-1346 (1995).
    • (1995) Hum. Pathol. , vol.26 , pp. 1341-1346
    • Gilcrease, M.Z.1    Schmidt, L.2    Zbar, B.3    Truong, L.4    Rutledge, M.5    Wheeler, T.M.6
  • 7
    • 0030880947 scopus 로고    scopus 로고
    • Allelic deletion and mutation of the von Hippel-Lindau (VHL) tumor suppressor gene in pancreatic microcystic adenomas
    • Vortmeyer, A. O., Lubensky, I. A., Fogt, F., Linehan, W. M., Khettry, U. and Zhuang, Z. Allelic deletion and mutation of the von Hippel-Lindau (VHL) tumor suppressor gene in pancreatic microcystic adenomas. Am. J. Pathol., 151, 951-956 (1997).
    • (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
  • 10
    • 0000177603 scopus 로고
    • VHL gene mutation and clear-cell renal carcinomas
    • Knudson, A. G. VHL gene mutation and clear-cell renal carcinomas. Cancer J. Sci. Am., 1, 180 (1995).
    • (1995) Cancer J. Sci. Am. , vol.1 , pp. 180
    • Knudson, A.G.1
  • 12
    • 0029147430 scopus 로고
    • Binding of the von Hippel-Lindau tumor suppressor protein to elongin B and C
    • Kibel, A., Iliopoulos, O., Decaprio, J. A. and Kaelin, W. G., Jr. Binding of the von Hippel-Lindau tumor suppressor protein to elongin B and C. Science, 269, 1444-1446 (1995).
    • (1995) Science , vol.269 , pp. 1444-1446
    • Kibel, A.1    Iliopoulos, O.2    Decaprio, J.A.3    Kaelin W.G., Jr.4
  • 14
    • 0029941650 scopus 로고    scopus 로고
    • Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product
    • Tsuchiya, H., Iseda, T. and Hino, O. Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product. Cancer Res., 56, 2881-2885 (1996).
    • (1996) Cancer Res. , vol.56 , pp. 2881-2885
    • Tsuchiya, H.1    Iseda, T.2    Hino, O.3
  • 15
    • 0030834249 scopus 로고    scopus 로고
    • The von Hippel-Lindau tumor suppressor gene product interacts with SpI to repress vascular endothelial growth factor promoter activity
    • Mukhopadhyay, D., Knebelmann, B., Cohen, H. T., Ananth, S. and Sukhatme, V. P. The von Hippel-Lindau tumor suppressor gene product interacts with SpI to repress vascular endothelial growth factor promoter activity. Mol. Cell. Biol., 17, 5629-5639 (1997).
    • (1997) Mol. Cell. Biol. , vol.17 , pp. 5629-5639
    • Mukhopadhyay, D.1    Knebelmann, B.2    Cohen, H.T.3    Ananth, S.4    Sukhatme, V.P.5
  • 19
    • 0033136031 scopus 로고    scopus 로고
    • Third International Meeting on von Hippel-Lindau disease
    • Zbar, B., Kaelin, W., Maher, E. and Richard, S. Third International Meeting on von Hippel-Lindau disease. Cancer Res., 59, 2251-2253 (1999).
    • (1999) Cancer Res. , vol.59 , pp. 2251-2253
    • Zbar, B.1    Kaelin, W.2    Maher, E.3    Richard, S.4
  • 20
    • 0028886723 scopus 로고
    • Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL
    • Clinical Research Group for VHL in Japan. Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Hum. Mol. Genet., 4, 2233-2237 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 2233-2237
  • 23
    • 0028812223 scopus 로고
    • 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
    • Gao, J., Naglich, J. G., Laidlaw, J., Whaley, J. M., Seizinger, B. R. and 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., 55, 743-747 (1995).
    • (1995) Cancer Res. , vol.55 , pp. 743-747
    • Gao, J.1    Naglich, J.G.2    Laidlaw, J.3    Whaley, J.M.4    Seizinger, B.R.5    Kley, N.6
  • 24
    • 0029028652 scopus 로고
    • Characterization of the VHL tumor suppressor gene product: Localization, complex formation, and the effect of natural inactivating mutations
    • Duan, D. R., Humphrey, J. S., Chen, D. Y., Weng, Y., Sukegawa, J., Lee, S., Gnarra, J. R., Linehan, M. W. and Klausner, R. D. Characterization of the VHL tumor suppressor gene product: localization, complex formation, and the effect of natural inactivating mutations. Proc. Natl. Acad. Sci. USA, 92, 6459-6463 (1995).
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 6459-6463
    • Duan, D.R.1    Humphrey, J.S.2    Chen, D.Y.3    Weng, Y.4    Sukegawa, J.5    Lee, S.6    Gnarra, J.R.7    Linehan, M.W.8    Klausner, R.D.9
  • 25
    • 0032578357 scopus 로고    scopus 로고
    • pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation
    • Iliopoulos, O., Ohh, M. and Kaelin, W. G., Jr. pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation. Proc. Natl. Acad. Sci. USA, 95, 11661-11666 (1998).
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 11661-11666
    • Iliopoulos, O.1    Ohh, M.2    Kaelin W.G., Jr.3
  • 26
    • 0032555217 scopus 로고    scopus 로고
    • A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor
    • Schoenfeld, A., Davidowitz, E. J. and Burk, R. D. A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor. Proc. Natl. Acad. Sci. USA, 95, 8817-8822 (1998).
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 8817-8822
    • Schoenfeld, A.1    Davidowitz, E.J.2    Burk, R.D.3
  • 27
    • 0033574737 scopus 로고    scopus 로고
    • Structure of the VHL-elongin C-elongin B complex: Implications for VHL tumor suppressor function
    • Stebbins, C. E., Kaelin, W. G., Jr. and Pavletich, N. P. Structure of the VHL-elongin C-elongin B complex: implications for VHL tumor suppressor function. Science, 284, 455-461 (1999).
    • (1999) Science , vol.284 , pp. 455-461
    • Stebbins, C.E.1    Kaelin W.G., Jr.2    Pavletich, N.P.3
  • 29
    • 0028826589 scopus 로고
    • Cellular proteins that bind the von Hippel-Lindau disease gene product: Mapping the binding domains and the effect of missense mutations
    • Kishida, T., Stackhouse, T. M., Chen, F., Lerman, M. I., and Zbar, B. Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping the binding domains and the effect of missense mutations. Cancer Res., 55, 4544-4548 (1995).
    • (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
  • 30
    • 0031907152 scopus 로고    scopus 로고
    • Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2
    • Lonergan, K. M., Iliopoulos, O., Ohh, M., Kamura, T., Conaway, R. C., Conaway, J. W., and Kaelin, W. G., Jr. Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2. Mol. Cell. Biol., 18, 732-741 (1998).
    • (1998) Mol. Cell. Biol. , vol.18 , pp. 732-741
    • Lonergan, K.M.1    Iliopoulos, O.2    Ohh, M.3    Kamura, T.4    Conaway, R.C.5    Conaway, J.W.6    Kaelin W.G., Jr.7
  • 34
    • 0026656818 scopus 로고
    • Assessing the underlying pattern of human germline mutations: Lessons from the factor IX gene
    • Sommer, S. S. Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene. FASEB J., 6, 2767-2774 (1992).
    • (1992) FASEB J. , vol.6 , pp. 2767-2774
    • Sommer, S.S.1
  • 35
    • 0030592517 scopus 로고    scopus 로고
    • Lessons from hereditary colorectal cancer
    • Kinzler, K. W. and Vogelstein, V. Lessons from hereditary colorectal cancer. Cell, 87, 159-170 (1996).
    • (1996) Cell , vol.87 , pp. 159-170
    • Kinzler, K.W.1    Vogelstein, V.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.