메뉴 건너뛰기




Volumn 61, Issue 3, 1997, Pages 547-555

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)

(17)  Veldhuisen, B a   Saris, J J a   De Haij, S a   Hayashi, T c   Reynolds, D M c   Mochizuki, T c   Elles, R d   Fossdal, R e   Bogdanova, N f   Van Dijk, M A a,b   Coto, E g   Ravine, D h   Norby S i   Verellen Dumoulin, C j   Breuning, M H a   Somlo, S c   Peters, D J M a  


Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; POLYCYSTIN; UNCLASSIFIED DRUG;

EID: 16944366176     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515497     Document Type: Article
Times cited : (84)

References (46)
  • 1
    • 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
    • American PKD1 Consortium, The (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
  • 2
    • 0021324754 scopus 로고
    • Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counseling
    • Bear JC, McManamon P, Morgan J, Payne RH, Lewis H, Gault MH, Churchill DN (1984) Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counseling. Am J Med Genet 18:45-53
    • (1984) Am J Med Genet , vol.18 , pp. 45-53
    • Bear, J.C.1    McManamon, P.2    Morgan, J.3    Payne, R.H.4    Lewis, H.5    Gault, M.H.6    Churchill, D.N.7
  • 3
    • 0026654117 scopus 로고
    • Autosomal dominant polycystic kidney disease: New information for genetic counselling
    • Bear JC, Parfrey PS, Morgan JM, Martin CJ, Cramer BC (1992) Autosomal dominant polycystic kidney disease: new information for genetic counselling. Am J Med Genet 43: 548-553
    • (1992) Am J Med Genet , vol.43 , pp. 548-553
    • Bear, J.C.1    Parfrey, P.S.2    Morgan, J.M.3    Martin, C.J.4    Cramer, B.C.5
  • 4
    • 0028895417 scopus 로고
    • Exon recognition in vertebrate splicing
    • Berget SM (1995) Exon recognition in vertebrate splicing. J Biol Chem 270:2411-2414
    • (1995) J Biol Chem , vol.270 , pp. 2411-2414
    • Berget, S.M.1
  • 6
    • 0025015672 scopus 로고
    • Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1)
    • Breuning MH, Snijdewint FGM, Brunner H, Verwest A, IJdo JW, Saris JJ, Dauwerse JG, et al (1990) Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1). J Med Genet 27: 603-613
    • (1990) J Med Genet , vol.27 , pp. 603-613
    • Breuning, M.H.1    Fgm, S.2    Brunner, H.3    Verwest, A.4    Ijdo, J.W.5    Saris, J.J.6    Dauwerse, J.G.7
  • 8
    • 0029064555 scopus 로고
    • DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: Evaluation of clinical heterogeneity between both forms of the disease
    • Coto E, Sanz de Castro S, Aguado S, Alvarez J, Arias M, Menendez MJ, Lopez-Larrea (1995) DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease. J Med Genet 32:442-445
    • (1995) J Med Genet , vol.32 , pp. 442-445
    • Coto, E.1    De Sanz Castro, S.2    Aguado, S.3    Alvarez, J.4    Arias, M.5    Menendez, M.J.6    Lopez-Larrea7
  • 9
    • 84924646510 scopus 로고
    • Bilateral polycystic disease of the kidneys: A follow-up of two hundred and eighty-four patients and their families
    • Dalgaard OZ (1957) Bilateral polycystic disease of the kidneys: a follow-up of two hundred and eighty-four patients and their families. Acta Med Scand 328:1-255
    • (1957) Acta Med Scand , vol.328 , pp. 1-255
    • Dalgaard, O.Z.1
  • 10
    • 0028932219 scopus 로고
    • Evidence for a third genetic locus for autosomal dominant polycystic kidney disease
    • Daoust MC, Reynolds DM, Bichet DG, Somlo S (1995) Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25:733-736
    • (1995) Genomics , vol.25 , pp. 733-736
    • Daoust, M.C.1    Reynolds, D.M.2    Bichet, D.G.3    Somlo, S.4
  • 11
    • 0029042394 scopus 로고
    • Autosomal dominant polycystic kidney disease: Evidence for the existence of a third locus in a Portuguese family
    • de Almeida S, de Almeida E, Peters DJM, Pinto JR, Tavora I, Lavinha J, Breuning MH, et al (1995) Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. Hum Genet 96:83-88
    • (1995) Hum Genet , vol.96 , pp. 83-88
    • De Almeida, S.1    De Almeida, E.2    Peters, D.J.M.3    Pinto, J.R.4    Tavora, I.5    Lavinha, J.6    Breuning, M.H.7
  • 12
    • 0028278058 scopus 로고
    • The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
    • European Polycystic Kidney Disease Consortium, The (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 Florijn KW, Saase van JLCM, Breuning MH, Chang PC (1992) Autosomal dominant polycystic kidney disease and hypertension: a review. In: Breuning MH, Devoto M, Romeo G (eds) Contributions to nephrology. Vol 97: Polycystic kidney disease. Karger, Basel, pp 71-92
    • (1994) Cell , vol.77 , pp. 881-894
  • 13
    • 0026488027 scopus 로고
    • Autosomal dominant polycystic kidney disease and hypertension: A review
    • Breuning MH, Devoto M, Romeo G (eds) Karger, Basel
    • European Polycystic Kidney Disease Consortium, The (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 Florijn KW, Saase van JLCM, Breuning MH, Chang PC (1992) Autosomal dominant polycystic kidney disease and hypertension: a review. In: Breuning MH, Devoto M, Romeo G (eds) Contributions to nephrology. Vol 97: Polycystic kidney disease. Karger, Basel, pp 71-92
    • (1992) Contributions to Nephrology. Vol 97: Polycystic Kidney Disease , vol.97 , pp. 71-92
    • Florijn, K.W.1    Saase Van, J.L.C.M.2    Breuning, M.H.3    Chang, P.C.4
  • 14
    • 0027317546 scopus 로고
    • Icelandic families with autosomal dominant polycystic kidney disease: Families unlinked to chromosome 16p13.3 revealed by linkage analysis
    • Fossdal R, Bodvarsson M, Asmundsson P, Ragnarsson J, Peters DJM, Breuning MH, Jensson O (1993) Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis. Hum Genet 91:609-613
    • (1993) Hum Genet , vol.91 , pp. 609-613
    • Fossdal, R.1    Bodvarsson, M.2    Asmundsson, P.3    Ragnarsson, J.4    Peters, D.J.M.5    Jensson O, B.M.H.6
  • 15
    • 0025247229 scopus 로고
    • Autosomal dominant polycystic kidney disease: More than a renal disease
    • Gabow PA (1990) Autosomal dominant polycystic kidney disease: more than a renal disease. Am J Kidney Dis 16:403-413
    • (1990) Am J Kidney Dis , vol.16 , pp. 403-413
    • Gabow, P.A.1
  • 17
  • 18
    • 0029069583 scopus 로고
    • The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
    • Hughes J, Ward CJ, Feral B, Aspinwall R, Clark K, San Millan JL, Gamble V, et al (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 10:151-159
    • (1995) Nat Genet , vol.10 , pp. 151-159
    • Hughes, J.1    Ward, C.J.2    Feral, B.3    Aspinwall, R.4    Clark, K.5    San Millan, J.L.6    Gamble, V.7
  • 19
    • 0029002967 scopus 로고
    • Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
    • International Polycystic Kidney Disease Consortium, The (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
  • 20
    • 0027767585 scopus 로고
    • Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23
    • Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S (1993) Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics 18:467-472
    • (1993) Genomics , vol.18 , pp. 467-472
    • Kimberling, W.J.1    Kumar, S.2    Gabow, P.A.3    Kenyon, J.B.4    Connolly, C.J.5    Somlo, S.6
  • 21
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
    • Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 22
    • 0029835707 scopus 로고    scopus 로고
    • Defects in RNA splicing and the consequence of shortened translational reading frames
    • Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
    • (1996) Am J Hum Genet , vol.59 , pp. 279-286
    • Maquat, L.E.1
  • 25
    • 0028222873 scopus 로고
    • Construction of a novel database containing aberrant splicing mutations of mammalian genes
    • Nakai K, Sakamoto H (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141:171-177
    • (1994) Gene , vol.141 , pp. 171-177
    • Nakai, K.1    Sakamoto, H.2
  • 26
    • 0029791499 scopus 로고    scopus 로고
    • Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriotic family with autosomal dominant polycystic kidney disease
    • Neophytou P, Constantinides R, Lazarou A, Pierides A, Constantinou Deltas C (1996) Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriotic family with autosomal dominant polycystic kidney disease. Hum Genet 98:437-442
    • (1996) Hum Genet , vol.98 , pp. 437-442
    • Neophytou, P.1    Constantinides, R.2    Lazarou, A.3    Pierides, A.4    Constantinou Deltas, C.5
  • 27
    • 0025297260 scopus 로고
    • Possible locus for polycystic kidney disease on chromosome 2
    • Norby S, Schwartz M (1990) Possible locus for polycystic kidney disease on chromosome 2. Lancet 1:323-324
    • (1990) Lancet , vol.1 , pp. 323-324
    • Norby, S.1    Schwartz, M.2
  • 28
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 32
    • 0029929998 scopus 로고    scopus 로고
    • A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1)
    • Peral B, Ong ACM, San Millan JL, Gamble V, Rees L, Harris PC (1996a) 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
  • 34
    • 0026466656 scopus 로고
    • Genetic heterogeneity of polycystic kidney disease in Europe
    • Breuning MH, Devoto M, Romeo G (eds) Karger, Basel
    • Peters DJM, Sandkuijl LA (1992) Genetic heterogeneity of polycystic kidney disease in Europe. In: Breuning MH, Devoto M, Romeo G (eds) Contributions to nephrology. Vol 97: Polycystic kidney disease. Karger, Basel, pp 128-139
    • (1992) Contributions to Nephrology. Vol 97: Polycystic Kidney Disease , vol.97 , pp. 128-139
    • Peters, D.J.M.1    Sandkuijl, L.A.2
  • 37
    • 0030582668 scopus 로고    scopus 로고
    • The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease
    • Qian F, Watnick TJ, Onuchic LF, Germino GG (1996b) The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease. Cell 87:979-987
    • (1996) Cell , vol.87 , pp. 979-987
    • Qian, F.1    Watnick, T.J.2    Onuchic, L.F.3    Germino, G.G.4
  • 39
    • 0026894270 scopus 로고
    • Multilocus polycystic disease
    • Reeders ST (1992) Multilocus polycystic disease. Nat Genet 1:235-237
    • (1992) Nat Genet , vol.1 , pp. 235-237
    • Reeders, S.T.1
  • 41
    • 0029689323 scopus 로고    scopus 로고
    • The long walk toward the PKD1 gene
    • Grunfeld JP, et al (eds) Mosby Year Book, St Louis
    • Roelfsema JH, Breuning MH, The European Polycystic Kidney Disease Consortium (1996) The long walk toward the PKD1 gene. In: Grunfeld JP, et al (eds) Advances in nephrology. Vol 25. Mosby Year Book, St Louis, pp 131-145
    • (1996) Advances in Nephrology , vol.25 , pp. 131-145
    • Roelfsema, J.H.1    Breuning, M.H.2
  • 42
    • 0029861825 scopus 로고    scopus 로고
    • Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exon 44 and 45 of the PKD1 gene
    • Rosetti S, Bresin G, Restagno G, Carbonara A, Corra S, De Frisco O, Franco Pignatti P, et al (1996) Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exon 44 and 45 of the PKD1 gene. Am J Med Genet 65:155-159
    • (1996) Am J Med Genet , vol.65 , pp. 155-159
    • Rosetti, S.1    Bresin, G.2    Restagno, G.3    Carbonara, A.4    Corra, S.5    De Frisco, O.6    Franco Pignatti, P.7
  • 43
    • 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 AE, Rosetti S, Bresin E, Corra S, Gammaro L, Maschio G, Pignatti PF (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    Rosetti, S.2    Bresin, E.3    Corra, S.4    Gammaro, L.5    Maschio, G.6    Pignatti, P.F.7
  • 44
    • 0029551130 scopus 로고
    • Intracranial aneurysms in polycystic kidney disease linked to chromosome 4
    • van Dijk MA, Chang PC, Peters DJM, Breuning MH (1995) Intracranial aneurysms in polycystic kidney disease linked to chromosome 4. J Am Soc Nephrol 6:1670-1673
    • (1995) J Am Soc Nephrol , vol.6 , pp. 1670-1673
    • Van Dijk, M.A.1    Chang, P.C.2    Peters, D.J.M.3    Breuning, M.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.