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Volumn 105, Issue 2-4, 2004, Pages 479-484

Genetics of rare diseases of the kidney: Learning from mouse models

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; ANTIHYPERTENSIVE AGENT; ANTILIPEMIC AGENT; ANTIOXIDANT; CYCLOSPORIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; ENALAPRIL; IMMUNOGLOBULIN G1; IMMUNOSUPPRESSIVE AGENT; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PROTEIN TYROSINE KINASE INHIBITOR; RAMIPRIL; RECOMBINANT GAMMA INTERFERON; STEROID; TUMOR NECROSIS FACTOR ALPHA CONVERTING ENZYME INHIBITOR; VASOPRESSIN ANTAGONIST;

EID: 3242814501     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000078222     Document Type: Review
Times cited : (4)

References (71)
  • 1
    • 0037248733 scopus 로고    scopus 로고
    • Renoprotection: Clues from knockout models of rare diseases
    • Abbate M, Remuzzi G: Renoprotection: Clues from knockout models of rare diseases. Kidney Int 63:764-766 (2003).
    • (2003) Kidney Int , vol.63 , pp. 764-766
    • Abbate, M.1    Remuzzi, G.2
  • 2
    • 0036174534 scopus 로고    scopus 로고
    • Quantitative trait loci influence renal disease progression in a mouse model of Alport syndrome
    • Andrews KL, Mudd JL, Li C, Miner JH: Quantitative trait loci influence renal disease progression in a mouse model of Alport syndrome. Am J Pathol 160:721-730 (2002).
    • (2002) Am J Pathol , vol.160 , pp. 721-730
    • Andrews, K.L.1    Mudd, J.L.2    Li, C.3    Miner, J.H.4
  • 4
    • 0032813046 scopus 로고    scopus 로고
    • Role of nucleosomes for induction and glomerular binding of autoantibodies in lupus nephritis
    • Berden JHM, Licht R, van Bruggen MCJ, Tax WJM: Role of nucleosomes for induction and glomerular binding of autoantibodies in lupus nephritis. Curr Opin Nephrol Hypertens 8:299-306 (1999).
    • (1999) Curr Opin Nephrol Hypertens , vol.8 , pp. 299-306
    • Berden, J.H.M.1    Licht, R.2    Van Bruggen, M.C.J.3    Tax, W.J.M.4
  • 6
    • 0041800664 scopus 로고
    • Structural organization of the human alpha-galactosidase A gene: Further evidence for the absence of a 3′ untranslated region
    • Bishop DF, Kornreich R, Desnick RJ: Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3′ untranslated region. Proc Natl Acad Sci USA 85:3903-3907 (1988).
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 3903-3907
    • Bishop, D.F.1    Kornreich, R.2    Desnick, R.J.3
  • 9
    • 0042833200 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease: Clinical implications
    • Breunig F, Knoll A, Wanner C: Enzyme replacement therapy in Fabry disease: clinical implications. Curr Opin Nephrol Hypertens 12:491-495 (2003b).
    • (2003) Curr Opin Nephrol Hypertens , vol.12 , pp. 491-495
    • Breunig, F.1    Knoll, A.2    Wanner, C.3
  • 10
    • 0032986645 scopus 로고    scopus 로고
    • Long-term effects of cyclosporine A in Alport's syndrome
    • Callis I, Vila A, Carrera M: Long-term effects of cyclosporine A in Alport's syndrome. Kidney Int 55:1051-1056 (1999).
    • (1999) Kidney Int , vol.55 , pp. 1051-1056
    • Callis, I.1    Vila, A.2    Carrera, M.3
  • 11
    • 0030944041 scopus 로고    scopus 로고
    • Mycophenolate mofetil limits renal damage and prolongs life in murine lupus autoimmune disease
    • Corna D, Morigi M, Facchinetti D, Bertani T, Zoja C, Remuzzi G: Mycophenolate mofetil limits renal damage and prolongs life in murine lupus autoimmune disease. Kidney Int 51:1583-1589 (1997).
    • (1997) Kidney Int , vol.51 , pp. 1583-1589
    • Corna, D.1    Morigi, M.2    Facchinetti, D.3    Bertani, T.4    Zoja, C.5    Remuzzi, G.6
  • 15
    • 0032913758 scopus 로고    scopus 로고
    • Relevance of systemic lupus erythematosus nephritis animal models to human disease
    • Foster MH: Relevance of systemic lupus erythematosus nephritis animal models to human disease. Semin Nephrol 19:12-24 (1999).
    • (1999) Semin Nephrol , vol.19 , pp. 12-24
    • Foster, M.H.1
  • 16
    • 0032999536 scopus 로고    scopus 로고
    • Lupus nephritis: Update on pathogenesis and disease mechanisms
    • Foster MH, Kelley VR: Lupus nephritis: Update on pathogenesis and disease mechanisms. Semin Nephrol 19:173-181 (1999).
    • (1999) Semin Nephrol , vol.19 , pp. 173-181
    • Foster, M.H.1    Kelley, V.R.2
  • 19
    • 0034130222 scopus 로고    scopus 로고
    • Quantitative trait loci modulate renal cystic disease severity in the mouse bpk model
    • Guay-Woodford LM, Wright CJ, Walz G, Churchill GA: Quantitative trait loci modulate renal cystic disease severity in the mouse bpk model. J Am Soc Nephrol 11:1253-1260 (2000).
    • (2000) J Am Soc Nephrol , vol.11 , pp. 1253-1260
    • Guay-Woodford, L.M.1    Wright, C.J.2    Walz, G.3    Churchill, G.A.4
  • 21
    • 0033966792 scopus 로고    scopus 로고
    • Animal models of Alport syndrome: Advancing the prospects for effective human gene therapy
    • Heikkila P, Tryggvason K, Thorner P: Animal models of Alport syndrome: advancing the prospects for effective human gene therapy. Exp Nephrol 8:1.7 (2000).
    • (2000) Exp Nephrol , vol.8 , pp. 1-7
    • Heikkila, P.1    Tryggvason, K.2    Thorner, P.3
  • 22
    • 0034973112 scopus 로고    scopus 로고
    • Adenovirus-mediated transfer of type IV collagen alpha 5 chain cDNA into swine kidney in vivo: Deposition of the protein into the glomerular basement membrane
    • Heikkila P, Tibell A, Morita T, Chen Y, Wu G, Sado Y, Ninomiya Y, Pettersson E, Tryggvason K: Adenovirus-mediated transfer of type IV collagen alpha 5 chain cDNA into swine kidney in vivo: deposition of the protein into the glomerular basement membrane. Gene Therapy 8:882-890 (2001).
    • (2001) Gene Therapy , vol.8 , pp. 882-890
    • Heikkila, P.1    Tibell, A.2    Morita, T.3    Chen, Y.4    Wu, G.5    Sado, Y.6    Ninomiya, Y.7    Pettersson, E.8    Tryggvason, K.9
  • 23
    • 0014376492 scopus 로고
    • The immunology and pathology of NZB mice
    • Howie JB, Helyer BJ: The immunology and pathology of NZB mice. Adv Immunol 9:215-266 (1968).
    • (1968) Adv Immunol , vol.9 , pp. 215-266
    • Howie, J.B.1    Helyer, B.J.2
  • 25
    • 0028917291 scopus 로고
    • Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity
    • Iakoubova O, Dunshkin H, Beier D: Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity. Genomics 26:107-114 (1995).
    • (1995) Genomics , vol.26 , pp. 107-114
    • Iakoubova, O.1    Dunshkin, H.2    Beier, D.3
  • 26
    • 0035163539 scopus 로고    scopus 로고
    • Fabry disease: Preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice
    • Ioannou YA, Zeidner KM, Gordon RE, Desnick RJ: Fabry disease: Preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 68:14-25 (2001).
    • (2001) Am J Hum Genet , vol.68 , pp. 14-25
    • Ioannou, Y.A.1    Zeidner, K.M.2    Gordon, R.E.3    Desnick, R.J.4
  • 34
    • 0038146960 scopus 로고    scopus 로고
    • Immunopathology and the gene therapy of lupus
    • Mageed RA, Prud'homme GJ: Immunopathology and the gene therapy of lupus. Gene Therapy 10:861-874 (2003).
    • (2003) Gene Therapy , vol.10 , pp. 861-874
    • Mageed, R.A.1    Prud'homme, G.J.2
  • 35
    • 0030457613 scopus 로고    scopus 로고
    • Molecular and functional defects in kidneys of mice lacking alphacollagen3(IV): Implications for Alport syndrome
    • Miner JH, Sanes JR: Molecular and functional defects in kidneys of mice lacking alphacollagen3(IV): Implications for Alport syndrome. J Cell Biol 135:1403-1413 (1996).
    • (1996) J Cell Biol , vol.135 , pp. 1403-1413
    • Miner, J.H.1    Sanes, J.R.2
  • 37
    • 0034815595 scopus 로고    scopus 로고
    • Murine lupus genetics: Lessons learned
    • Mohan C: Murine lupus genetics: Lessons learned. Curr Opin Rheumatol 13:352-360 (2001).
    • (2001) Curr Opin Rheumatol , vol.13 , pp. 352-360
    • Mohan, C.1
  • 38
    • 0032402990 scopus 로고    scopus 로고
    • Susceptibility to lupus nephritis in the NZB/W model system
    • Morel L, Wakeland ED: Susceptibility to lupus nephritis in the NZB/W model system. Curr Opin Immunol 10:718-725 (1998).
    • (1998) Curr Opin Immunol , vol.10 , pp. 718-725
    • Morel, L.1    Wakeland, E.D.2
  • 39
    • 34247574562 scopus 로고    scopus 로고
    • Susceptibility genes in the pathogenesis of murine lupus
    • Nguyen C, Limaye N, Wakeland EK: Susceptibility genes in the pathogenesis of murine lupus. Arthritis Res 4:S255-S263 (2002).
    • (2002) Arthritis Res , vol.4
    • Nguyen, C.1    Limaye, N.2    Wakeland, E.K.3
  • 43
    • 0028909692 scopus 로고
    • Epidermal growth factor receptor expression is abnormal in murine polycystic kidney
    • Orellana SA, Sweeney WE, Neff CD, Avner ED: Epidermal growth factor receptor expression is abnormal in murine polycystic kidney. Kidney Int 47:490-499 (1995).
    • (1995) Kidney Int , vol.47 , pp. 490-499
    • Orellana, S.A.1    Sweeney, W.E.2    Neff, C.D.3    Avner, E.D.4
  • 44
    • 0037453003 scopus 로고    scopus 로고
    • Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer
    • Park J, Murray GJ, Limaye A, Quirk JM, Gelderman MP, Brady RO, Qasba P: Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer. Proc Natl Acad Sci USA 100:3450-3454 (2003).
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 3450-3454
    • Park, J.1    Murray, G.J.2    Limaye, A.3    Quirk, J.M.4    Gelderman, M.P.5    Brady, R.O.6    Qasba, P.7
  • 45
    • 0033033706 scopus 로고    scopus 로고
    • Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease
    • Pei Y, Watnick T, He N, Wang K, Liang Y, Parfrey, P, Germino G, St George-Hyslop P: Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. J Am Soc Nephrol 10:1524-1529 (1999).
    • (1999) J Am Soc Nephrol , vol.10 , pp. 1524-1529
    • Pei, Y.1    Watnick, T.2    He, N.3    Wang, K.4    Liang, Y.5    Parfrey, P.6    Germino, G.7    St George-Hyslop, P.8
  • 46
    • 0035960436 scopus 로고    scopus 로고
    • Autosomal dominant polycystic kidney disease: Modification of disease progression
    • Peters DJM, Breuning MH: Autosomal dominant polycystic kidney disease: modification of disease progression. Lancet 358:1439-1444 (2001).
    • (2001) Lancet , vol.358 , pp. 1439-1444
    • Peters, D.J.M.1    Breuning, M.H.2
  • 47
    • 0034111184 scopus 로고    scopus 로고
    • Enalapril in paediatric patients with Alport syndrome: Two years' experience
    • Proesmans W, Knockaert H, Trouet D: Enalapril in paediatric patients with Alport syndrome: two years' experience. Eur J Pediatr 159:430-433 (2000).
    • (2000) Eur J Pediatr , vol.159 , pp. 430-433
    • Proesmans, W.1    Knockaert, H.2    Trouet, D.3
  • 48
    • 0030582668 scopus 로고    scopus 로고
    • The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I
    • Qian F, Watnick TJ, Onuchic LF, Germino GG: The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 87:979-987 (1996).
    • (1996) Cell , vol.87 , pp. 979-987
    • Qian, F.1    Watnick, T.J.2    Onuchic, L.F.3    Germino, G.G.4
  • 49
    • 0034999513 scopus 로고    scopus 로고
    • Treatment prospects for autosomal-dominant polycystic kidney disease
    • Qian Q, Harris PC, Torres VE: Treatment prospects for autosomal-dominant polycystic kidney disease. Kidney Int 59:2005-2022 (2001).
    • (2001) Kidney Int , vol.59 , pp. 2005-2022
    • Qian, Q.1    Harris, P.C.2    Torres, V.E.3
  • 51
    • 0029021257 scopus 로고
    • Modulation of disease activity in murine systemic lupus erythematosus by cytokine gene delivery
    • Raz E, Dudler J, Lotz M, Baird SM, Berry CC, Eisenberg RA, Carson DA: Modulation of disease activity in murine systemic lupus erythematosus by cytokine gene delivery. Lupus 4:286-292 (1995).
    • (1995) Lupus , vol.4 , pp. 286-292
    • Raz, E.1    Dudler, J.2    Lotz, M.3    Baird, S.M.4    Berry, C.C.5    Eisenberg, R.A.6    Carson, D.A.7
  • 52
    • 0026894270 scopus 로고
    • Multilocus polycystic disease
    • Reeders ST: Multilocus polycystic disease. Nat Genet 1:235-237 (1992).
    • (1992) Nat Genet , vol.1 , pp. 235-237
    • Reeders, S.T.1
  • 56
    • 0037320210 scopus 로고    scopus 로고
    • Autosomal dominant polycystic kidney disease: Molecular genetics and pathophysiology
    • Sutters M, Germino GG: Autosomal dominant polycystic kidney disease: Molecular genetics and pathophysiology. J Lab Clin Med 141:91-101 (2003).
    • (2003) J Lab Clin Med , vol.141 , pp. 91-101
    • Sutters, M.1    Germino, G.G.2
  • 57
    • 0033995015 scopus 로고    scopus 로고
    • Treatment of polycystic kidney disease with a novel tyrosine kinase inhibitor
    • Sweeney WE, Chen Y, Nakanishi K, Frost P, Avner ED: Treatment of polycystic kidney disease with a novel tyrosine kinase inhibitor. Kidney Int 57:33-40 (2000).
    • (2000) Kidney Int , vol.57 , pp. 33-40
    • Sweeney, W.E.1    Chen, Y.2    Nakanishi, K.3    Frost, P.4    Avner, E.D.5
  • 58
    • 0141451943 scopus 로고    scopus 로고
    • Combination treatment of PKD utilizing dual inhibition of EGF-receptor activity and ligand bioavailability
    • Sweeney WE, Hamahira K, Sweeney J, Garcia-Gatrell M, Frost P, Avner ED: Combination treatment of PKD utilizing dual inhibition of EGF-receptor activity and ligand bioavailability. Kidney Int 64:1310-1319 (2003).
    • (2003) Kidney Int , vol.64 , pp. 1310-1319
    • Sweeney, W.E.1    Hamahira, K.2    Sweeney, J.3    Garcia-Gatrell, M.4    Frost, P.5    Avner, E.D.6
  • 60
    • 0033976034 scopus 로고    scopus 로고
    • CTLA4 IgG gene delivery prevents autoantibody production and lupus nephritis in MRL/lpr mice
    • Takiguchi M, Murakami M, Nakagawa I, Saito I, Hashimoto A, Uede T: CTLA4 IgG gene delivery prevents autoantibody production and lupus nephritis in MRL/lpr mice. Life Sci 66:991-1001 (2000).
    • (2000) Life Sci , vol.66 , pp. 991-1001
    • Takiguchi, M.1    Murakami, M.2    Nakagawa, I.3    Saito, I.4    Hashimoto, A.5    Uede, T.6
  • 61
    • 0022273898 scopus 로고
    • Murine models of lupus systemic erythematosus
    • Theophiloulos AN, Dixon FJ: Murine models of lupus systemic erythematosus. Adv Immunol 37:269-290 (1985).
    • (1985) Adv Immunol , vol.37 , pp. 269-290
    • Theophiloulos, A.N.1    Dixon, F.J.2
  • 63
    • 0033153428 scopus 로고    scopus 로고
    • Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants
    • Upadhya P, Churchill G, Birkenmeier E, Barker J, Frankel W: Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants. Genomics 58:129-137 (1999).
    • (1999) Genomics , vol.58 , pp. 129-137
    • Upadhya, P.1    Churchill, G.2    Birkenmeier, E.3    Barker, J.4    Frankel, W.5
  • 65
    • 0034816964 scopus 로고    scopus 로고
    • Delineating the genetic basis of systemic lupus erythematosus
    • Wakeland EK, Liu K, Graham RR, Behrens TW: Delineating the genetic basis of systemic lupus erythematosus. Immunity 15:397-408 (2001).
    • (2001) Immunity , vol.15 , pp. 397-408
    • Wakeland, E.K.1    Liu, K.2    Graham, R.R.3    Behrens, T.W.4
  • 66
    • 0006885985 scopus 로고
    • Progression of polycystic kidney disease in cpk mice is a quantitative trait under polygenic control
    • Woo D, Miao S, Tran T: Progression of polycystic kidney disease in cpk mice is a quantitative trait under polygenic control (Abstract). J Am Soc Nephrol 6:731A (1995).
    • (1995) J Am Soc Nephrol , vol.6
    • Woo, D.1    Miao, S.2    Tran, T.3
  • 67
    • 0030776906 scopus 로고    scopus 로고
    • Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice
    • Woo D, Nguyen D, Khatibi N, Olsen P: Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice. J Clin Invest 100:1934-1940 (1997).
    • (1997) J Clin Invest , vol.100 , pp. 1934-1940
    • Woo, D.1    Nguyen, D.2    Khatibi, N.3    Olsen, P.4


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