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Volumn 99, Issue 2, 1997, Pages 194-199

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis

Author keywords

chromosome deletion; chromosomes, human, pair 16; gene deletion; kidney, polycystic, autosomal dominant; tuberous sclerosis

Indexed keywords

CELL DNA;

EID: 0031035050     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119147     Document Type: Article
Times cited : (232)

References (33)
  • 1
    • 0027925829 scopus 로고
    • Autosomal dominant polycystic kidney disease
    • Gabow, P.A. 1993. Autosomal dominant polycystic kidney disease. N. Engl. J. Med. 329:332-342.
    • (1993) N. Engl. J. Med. , vol.329 , pp. 332-342
    • Gabow, P.A.1
  • 2
    • 0026466656 scopus 로고
    • Genetic heterogeneity of polycystic kidney disease in Europe
    • Peters, D.J.M., and L.A. Sandkuijl. 1992. Genetic heterogeneity of polycystic kidney disease in Europe. Contrib. Nephrol. 97:128-139.
    • (1992) Contrib. Nephrol. , vol.97 , pp. 128-139
    • Peters, D.J.M.1    Sandkuijl, L.A.2
  • 4
    • 0028278058 scopus 로고
    • The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
    • The European Polycystic Kidney Disease Consortium. 1994. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell. 77:881-894.
    • (1994) Cell , vol.77 , pp. 881-894
  • 5
    • 0029002967 scopus 로고
    • Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
    • The International Polycystic Kidney Disease Consortium. 1995. Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell. 81:289-298.
    • (1995) Cell , vol.81 , pp. 289-298
  • 6
    • 0028942745 scopus 로고
    • Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat
    • The American PKD1 Consortium. 1995. Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. Hum. Mol. Genet. 4:575-582.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 575-582
  • 7
    • 0029069583 scopus 로고
    • The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
    • Hughes, J., C.J. Ward, B. Peral, R. Aspinwall, K. Clark, J.L. San Millan, and V. Gamble. 1995. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat. Genet. 10:151-160.
    • (1995) Nat. Genet. , vol.10 , pp. 151-160
    • Hughes, J.1    Ward, C.J.2    Peral, B.3    Aspinwall, R.4    Clark, K.5    San Millan, J.L.6    Gamble, V.7
  • 8
    • 0026894270 scopus 로고
    • Multilocus polycystic kidney disease
    • Reeders, S.T. 1992. Multilocus polycystic kidney disease. Nat. Genet. 1: 235-237.
    • (1992) Nat. Genet. , vol.1 , pp. 235-237
    • Reeders, S.T.1
  • 9
    • 0025380629 scopus 로고
    • Polycystic kidney disease: Neoplasia in disguise
    • Grantham, J.J. 1990. Polycystic kidney disease: neoplasia in disguise. Am. J. Kidney. Dis. 15:110-116.
    • (1990) Am. J. Kidney. Dis. , vol.15 , pp. 110-116
    • Grantham, J.J.1
  • 10
    • 0026337295 scopus 로고
    • Tumor suppressor genes
    • Weinberg, R.A. 1991. Tumor suppressor genes. Science (Wash. DC). 254:1138-1146.
    • (1991) Science (Wash. DC) , vol.254 , pp. 1138-1146
    • Weinberg, R.A.1
  • 11
    • 0024402455 scopus 로고
    • Cyst-derived cells do not exhibit accelerated growth or features of transformed cells in vitro
    • Carone, F.A., S. Nakamura, B.S. Schumacher, P. Punyarit, and K.D. Bauer. 1989. Cyst-derived cells do not exhibit accelerated growth or features of transformed cells in vitro. Kidney Int. 35:1351-1357.
    • (1989) Kidney Int. , vol.35 , pp. 1351-1357
    • Carone, F.A.1    Nakamura, S.2    Schumacher, B.S.3    Punyarit, P.4    Bauer, K.D.5
  • 14
    • 0028795019 scopus 로고
    • Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2
    • San Millan, J.L., M. Viribay, B. Peral, I. Martinez, J. Weissenbach, and F. Moreno. 1995. Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2. Am. J. Hum. Genet. 56:248-253.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 248-253
    • San Millan, J.L.1    Viribay, M.2    Peral, B.3    Martinez, I.4    Weissenbach, J.5    Moreno, F.6
  • 16
    • 0028893130 scopus 로고
    • Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas
    • Henske, E.P., H.P.H. Neumann, B.W. Scheithauer, E.W. Herbst, M.P. Short, and D.J. Kwiatkowski. 1995. Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. Genes Chromosomes and Cancer. 13: 295-298.
    • (1995) Genes Chromosomes and Cancer , vol.13 , pp. 295-298
    • Henske, E.P.1    Neumann, H.P.H.2    Scheithauer, B.W.3    Herbst, E.W.4    Short, M.P.5    Kwiatkowski, D.J.6
  • 17
    • 0028864564 scopus 로고
    • Genomic alterations and instabilities in renal cell carcinomas and their relationship to tumor pathology
    • Thrash-Bingham, C.A., H. Salazar, J.J. Freed, R.E. Greenberg, and K.D. Tartof. 1995. Genomic alterations and instabilities in renal cell carcinomas and their relationship to tumor pathology. Cancer Res. 55:6189-6195.
    • (1995) Cancer Res. , vol.55 , pp. 6189-6195
    • Thrash-Bingham, C.A.1    Salazar, H.2    Freed, J.J.3    Greenberg, R.E.4    Tartof, K.D.5
  • 18
    • 0025312728 scopus 로고
    • A genetic model for colorectal tumorigenesis
    • Fearon, E.R., and B. Vogelstein. 1990. A genetic model for colorectal tumorigenesis. Cell. 61:759-767.
    • (1990) Cell , vol.61 , pp. 759-767
    • Fearon, E.R.1    Vogelstein, B.2
  • 21
    • 0029149637 scopus 로고
    • A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family
    • Turco, A.E., S. Rossetti, E. Bresin, S. Corra, L. Gammaro, G. Maschio, and P.F. Pignatti. 1995. A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. Hum. Mol. Genet. 4:1331-1335.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1331-1335
    • Turco, A.E.1    Rossetti, S.2    Bresin, E.3    Corra, S.4    Gammaro, L.5    Maschio, G.6    Pignatti, P.F.7
  • 22
    • 0029929998 scopus 로고    scopus 로고
    • A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1)
    • Peral, B., A.C.M. Ong, J.L. San Millan, V. Gamble, L. Rees, and P.C. Harris. 1996. A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum. Mol. Genet. 5:539-542.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 539-542
    • Peral, B.1    Ong, A.C.M.2    San Millan, J.L.3    Gamble, V.4    Rees, L.5    Harris, P.C.6
  • 24
  • 27
    • 0027489384 scopus 로고
    • Clinical implications of the p53 tumor-suppressor gene
    • Harris, C.C., and M. Hollstein. 1993. Clinical implications of the p53 tumor-suppressor gene. New. Engl. J. Med. 329:1318-1327.
    • (1993) New. Engl. J. Med. , vol.329 , pp. 1318-1327
    • Harris, C.C.1    Hollstein, M.2
  • 29
    • 0025826613 scopus 로고
    • Renal involvement in tuberous sclerosis
    • Bernstein, J., and T.O. Robbins. 1991. Renal involvement in tuberous sclerosis. Ann. NY Acad. Sci. 615:36-49.
    • (1991) Ann. NY Acad. Sci. , vol.615 , pp. 36-49
    • Bernstein, J.1    Robbins, T.O.2
  • 31
    • 0023204539 scopus 로고
    • Cyst formation and growth in autosomal dominant polycystic kidney disease
    • Grantham, J.J., J.L. Geiser, and A.P. Evan. 1987. Cyst formation and growth in autosomal dominant polycystic kidney disease. Kidney Int. 31:1145-1152.
    • (1987) Kidney Int. , vol.31 , pp. 1145-1152
    • Grantham, J.J.1    Geiser, J.L.2    Evan, A.P.3
  • 32
    • 0023639820 scopus 로고
    • Epithelial hyperplasia in human polycystic kidney disease
    • Bernstein, J., A.P. Evan, and K.D. Gardner. 1987. Epithelial hyperplasia in human polycystic kidney disease. Am. J. Path. 129:92-101.
    • (1987) Am. J. Path. , vol.129 , pp. 92-101
    • Bernstein, J.1    Evan, A.P.2    Gardner, K.D.3
  • 33
    • 0025913437 scopus 로고
    • Aberrant epithelial cell growth in autosomal dominant polycystic kidney disease
    • Wilson, P.D. 1991. Aberrant epithelial cell growth in autosomal dominant polycystic kidney disease. Am. J. Kidney Dis. 17:634-637.
    • (1991) Am. J. Kidney Dis. , vol.17 , pp. 634-637
    • Wilson, P.D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.