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Volumn 10, Issue 7, 1999, Pages 1524-1529

Somatic PKD2 mutations in individual kidney and liver cysts support a 'two-hit' model of cystogenesis in type 2 autosomal dominant polycystic kidney disease

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA;

EID: 0033033706     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (150)

References (26)
  • 1
    • 0028063609 scopus 로고
    • Hereditary and acquired cystic disease of the kidney
    • Fick G, Gabow P: Hereditary and acquired cystic disease of the kidney. Kidney Int 46: 951-964, 1994
    • (1994) Kidney Int , vol.46 , pp. 951-964
    • Fick, G.1    Gabow, P.2
  • 2
    • 0025933747 scopus 로고
    • Polycystic kidney disease: Clues to pathogenesis
    • Gabow P: Polycystic kidney disease: Clues to pathogenesis. Kidney Int 40: 989-996, 1991
    • (1991) Kidney Int , vol.40 , pp. 989-996
    • Gabow, P.1
  • 3
    • 0029069583 scopus 로고
    • The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
    • Hughes J, Ward C, Peral B, Aspinwall R, Clark K, San Millan J, Gamble V, Harris P: The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 10: 151-160, 1995
    • (1995) Nat Genet , vol.10 , pp. 151-160
    • Hughes, J.1    Ward, C.2    Peral, B.3    Aspinwall, R.4    Clark, K.5    San Millan, J.6    Gamble, V.7    Harris, P.8
  • 4
    • 0029002967 scopus 로고
    • Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
    • International Polycystic Kidney Disease Consortium: Polycystic kidney disease: The complete structure of the PKD1 gene and its protein. Cell 81: 289-298, 1995
    • (1995) Cell , vol.81 , pp. 289-298
  • 7
    • 0344133384 scopus 로고
    • Molecular genetics of polycystic kidney disease
    • edited by Schlondorff D, Bonventure J, New York, Marcel Dekker
    • Somlo S, Germino G: Molecular genetics of polycystic kidney disease. In: Molecular Nephrology, edited by Schlondorff D, Bonventure J, New York, Marcel Dekker, 1995, pp 821-837
    • (1995) Molecular Nephrology , pp. 821-837
    • Somlo, S.1    Germino, G.2
  • 8
    • 0029929998 scopus 로고    scopus 로고
    • A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1)
    • Peral B, Ong A, San Millan J, Gamble V, Rees L, Harris P: A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum Mol Genet 5: 539-542, 1996
    • (1996) Hum Mol Genet , vol.5 , pp. 539-542
    • Peral, B.1    Ong, A.2    San Millan, J.3    Gamble, V.4    Rees, L.5    Harris, P.6
  • 9
    • 0030582668 scopus 로고    scopus 로고
    • The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1
    • Qian F, Watnick T, Onuchic L, Germino G: The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1. Cell 87: 979-987, 1996
    • (1996) Cell , vol.87 , pp. 979-987
    • Qian, F.1    Watnick, T.2    Onuchic, L.3    Germino, G.4
  • 10
    • 0031035050 scopus 로고    scopus 로고
    • Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13.3 in renal cysts supports a loss-of-function model for cyst pathogenesis
    • Brasier J, Henske E: Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13.3 in renal cysts supports a loss-of-function model for cyst pathogenesis. J Clin Invest 99: 194-199, 1997
    • (1997) J Clin Invest , vol.99 , pp. 194-199
    • Brasier, J.1    Henske, E.2
  • 11
    • 0032132758 scopus 로고    scopus 로고
    • Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease
    • Watnick T, Torres V, Gandolph M, Qian F, Onuchic L, Klinger K, Landes G, Germino G: Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. Mol Cell 2: 247-251, 1998
    • (1998) Mol Cell , vol.2 , pp. 247-251
    • Watnick, T.1    Torres, V.2    Gandolph, M.3    Qian, F.4    Onuchic, L.5    Klinger, K.6    Landes, G.7    Germino, G.8
  • 13
    • 0024284028 scopus 로고
    • Simple salting-out procedure for extracting DNA from human nucleated cells
    • Miller S, Dykes D, Polesky H: Simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215, 1987
    • (1987) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.1    Dykes, D.2    Polesky, H.3
  • 14
    • 0031571637 scopus 로고    scopus 로고
    • Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2)
    • Hayashi T, Mochizuki T, Reynolds D, Wu Y, Cai Y, Somlo S: Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). Genomics 44: 131-136, 1997
    • (1997) Genomics , vol.44 , pp. 131-136
    • Hayashi, T.1    Mochizuki, T.2    Reynolds, D.3    Wu, Y.4    Cai, Y.5    Somlo, S.6
  • 15
    • 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
    • San Millan J, Viribay M, Peral B, Martinez I, Weissenbach J, Moren F: Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease. Am J Hum Genet 56: 248-253, 1995
    • (1995) Am J Hum Genet , vol.56 , pp. 248-253
    • San Millan, J.1    Viribay, M.2    Peral, B.3    Martinez, I.4    Weissenbach, J.5    Moren, F.6
  • 16
    • 0000437518 scopus 로고    scopus 로고
    • Folding of secretory and membrane proteins
    • Kuznetsov G, Nigam S: Folding of secretory and membrane proteins. N Engl J Med 339: 1688-1695, 1998
    • (1998) N Engl J Med , vol.339 , pp. 1688-1695
    • Kuznetsov, G.1    Nigam, S.2
  • 19
    • 0030728920 scopus 로고    scopus 로고
    • "Mistakes happen:" somatic mutation and disease
    • Qian F, Germino G: "Mistakes happen:" Somatic mutation and disease. Am J Hum Genet 61: 1000-1005, 1997
    • (1997) Am J Hum Genet , vol.61 , pp. 1000-1005
    • Qian, F.1    Germino, G.2
  • 23
    • 0030887477 scopus 로고    scopus 로고
    • Molecular basis of renal cyst formation: One hit or two?
    • Ong AC, Harris PC: Molecular basis of renal cyst formation: One hit or two? Lancet 349: 1039-1040, 1997
    • (1997) Lancet , vol.349 , pp. 1039-1040
    • Ong, A.C.1    Harris, P.C.2
  • 26
    • 0030028185 scopus 로고    scopus 로고
    • Somatic mutations are frequent and increase with age in human kidney epithelial cells
    • Martin G, Ogburn C, Colgin L, Gown A, Monnat R: Somatic mutations are frequent and increase with age in human kidney epithelial cells. Hum Mol Genet 5: 215-221, 1996
    • (1996) Hum Mol Genet , vol.5 , pp. 215-221
    • Martin, G.1    Ogburn, C.2    Colgin, L.3    Gown, A.4    Monnat, R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.