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Volumn 21, Issue 7, 2010, Pages 1073-1076

What is the role of somatic mutation in autosomal dominant polycystic kidney disease?

Author keywords

[No Author keywords available]

Indexed keywords

POLYCYSTIN 1; POLYCYSTIN 2; TUBERIN;

EID: 77954596742     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2010030328     Document Type: Article
Times cited : (39)

References (41)
  • 4
    • 0031035050 scopus 로고    scopus 로고
    • Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis
    • Brasier JL, Henske EP: Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells 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.L.1    Henske, E.P.2
  • 5
    • 0032977495 scopus 로고    scopus 로고
    • Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease
    • Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Constantinou Deltas C: Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. Hum Mol Genet 8: 509-513, 1999 (Pubitemid 29097339)
    • (1999) Human Molecular Genetics , vol.8 , Issue.3 , pp. 509-513
    • Koptides, M.1    Hadjimichael, C.2    Koupepidou, P.3    Pierides, A.4    Deltas, C.C.5
  • 6
    • 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, George-Hyslop PS: 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    George-Hyslop, P.S.8
  • 7
    • 0030582668 scopus 로고    scopus 로고
    • The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1
    • Qian F, Watnick TJ, Onuchic LF, Germino GG: 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.J.2    Onuchic, L.F.3    Germino, G.G.4
  • 8
    • 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 TJ, Torres VE, Gandolph MA, Qian F, Onuchic LF, Klinger KW, Landes G, Germino GG: 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.J.1    Torres, V.E.2    Gandolph, M.A.3    Qian, F.4    Onuchic, L.F.5    Klinger, K.W.6    Landes, G.7    Germino, G.G.8
  • 10
    • 36249030528 scopus 로고    scopus 로고
    • Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice
    • Lantinga-van Leeuwen IS, Leonhard WN, van der Wal A, Breuning MH, de Heer E, Peters DJ: Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice. Hum Mol Genet 16: 3188-3196, 2007
    • (2007) Hum Mol Genet , vol.16 , pp. 3188-3196
    • Lantinga-van Leeuwen, I.S.1    Leonhard, W.N.2    Van Der Wal, A.3    Breuning, M.H.4    De Heer, E.5    Peters, D.J.6
  • 11
    • 36849037019 scopus 로고    scopus 로고
    • A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1
    • Piontek K, Menezes LF, Garcia-Gonzalez MA, Huso DL, Germino GG: A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1. Nat Med 13: 1490-1495, 2007
    • (2007) Nat Med , vol.13 , pp. 1490-1495
    • Piontek, K.1    Menezes, L.F.2    Garcia-Gonzalez, M.A.3    Huso, D.L.4    Germino, G.G.5
  • 12
    • 57149094707 scopus 로고    scopus 로고
    • Pkd1 inactivation induced in adulthood produces focal cystic disease
    • Takakura A, Contrino L, Beck AW, Zhou J: Pkd1 inactivation induced in adulthood produces focal cystic disease. J Am Soc Nephrol 19: 2351-2363, 2008
    • (2008) J Am Soc Nephrol , vol.19 , pp. 2351-2363
    • Takakura, A.1    Contrino, L.2    Beck, A.W.3    Zhou, J.4
  • 13
    • 67649884993 scopus 로고    scopus 로고
    • Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways
    • Happe H, Leonhard WN, van der Wal A, van de Water B, Lantinga-van Leeuwen IS, Breuning MH, de Heer E, Peters DJ: Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways. Hum Mol Genet 18: 2532-2542, 2009
    • (2009) Hum Mol Genet , vol.18 , pp. 2532-2542
    • Happe, H.1    Leonhard, W.N.2    Van Der Wal, A.3    Van De Water, B.4    Lantinga-van Leeuwen, I.S.5    Breuning, M.H.6    De Heer, E.7    Peters, D.J.8
  • 15
    • 33846674526 scopus 로고    scopus 로고
    • +l- vascular smooth muscles develop exaggerated vasocontraction in response to phenylephrine stimulation
    • DOI 10.1681/ASN.2006050501
    • Qian Q, Hunter LW, Du H, Ren Q, Han Y, Sieck GC: Pkd2+/- vascular smooth muscles develop exaggerated vasocontraction in response to phenylephrine stimulation. J Am Soc Nephrol 18: 485-493, 2007 (Pubitemid 46193314)
    • (2007) Journal of the American Society of Nephrology , vol.18 , Issue.2 , pp. 485-493
    • Qian, Q.1    Hunter, L.W.2    Du, H.3    Ren, Q.4    Han, Y.5    Sieck, G.C.6
  • 18
    • 33748085676 scopus 로고    scopus 로고
    • Haploinsufficiency of Pkd2 is associated with increased tubular cell proliferation and interstitial fibrosis in two murine Pkd2 models
    • Chang MY, Parker E, Ibrahim S, Shortland JR, Nahas ME, Haylor JL, Ong AC: Haploinsufficiency of Pkd2 is associated with increased tubular cell proliferation and interstitial fibrosis in two murine Pkd2 models. Nephrol Dial Transplant 21: 2078-2084, 2006
    • (2006) Nephrol Dial Transplant , vol.21 , pp. 2078-2084
    • Chang, M.Y.1    Parker, E.2    Ibrahim, S.3    Shortland, J.R.4    Nahas, M.E.5    Haylor, J.L.6    Ong, A.C.7
  • 20
    • 73549122173 scopus 로고    scopus 로고
    • Pkd2 dosage influences cellular repair responses following ischemia-reperfusion injury
    • Prasad S, McDaid JP, Tam FW, Haylor JL, Ong AC: Pkd2 dosage influences cellular repair responses following ischemia-reperfusion injury. Am J Pathol 175: 1493-1503, 2009
    • (2009) Am J Pathol , vol.175 , pp. 1493-1503
    • Prasad, S.1    McDaid, J.P.2    Tam, F.W.3    Haylor, J.L.4    Ong, A.C.5
  • 22
    • 33751208606 scopus 로고    scopus 로고
    • Regulation of Hh/Gli signaling by dual ubiquitin pathways
    • Jiang J: Regulation of Hh/Gli signaling by dual ubiquitin pathways. Cell Cycle 5: 2457-2463, 2006 (Pubitemid 44785822)
    • (2006) Cell Cycle , vol.5 , Issue.21 , pp. 2457-2463
    • Jiang, J.1
  • 24
    • 57649130595 scopus 로고    scopus 로고
    • Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin
    • Kim I, Li C, Liang D, Chen XZ, Coffy RJ, Ma J, Zhao P, Wu G: Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin. J Biol Chem 283: 31559-31566, 2008
    • (2008) J Biol Chem , vol.283 , pp. 31559-31566
    • Kim, I.1    Li, C.2    Liang, D.3    Chen, X.Z.4    Coffy, R.J.5    Ma, J.6    Zhao, P.7    Wu, G.8
  • 30
    • 77952491724 scopus 로고    scopus 로고
    • Pkd1 transgenic mice: Adult model of polycystic kidney disease with extrarenal and renal phenotypes
    • Kurbegovic A, Cote O, Couillard M, Ward CJ, Harris PC, Trudel M: Pkd1 transgenic mice: Adult model of polycystic kidney disease with extrarenal and renal phenotypes. Hum Mol Genet 19: 1174-1189, 2010
    • (2010) Hum Mol Genet , vol.19 , pp. 1174-1189
    • Kurbegovic, A.1    Cote, O.2    Couillard, M.3    Ward, C.J.4    Harris, P.C.5    Trudel, M.6
  • 35
    • 0034639655 scopus 로고    scopus 로고
    • Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease
    • Koptides M, Mean R, Demetriou K, Pierides A, Deltas CC: Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease. Hum Mol Genet 9: 447-452, 2000 (Pubitemid 30098739)
    • (2000) Human Molecular Genetics , vol.9 , Issue.3 , pp. 447-452
    • Koptides, M.1    Mean, R.2    Demetriou, K.3    Pierides, A.4    Deltas, C.C.5
  • 40
    • 65449176538 scopus 로고    scopus 로고
    • Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1
    • Distefano G, Boca M, Rowe I, Wodarczyk C, Ma L, Piontek KB, GerminoGG, Pandolfi PP, Boletta A: Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1. Mol Cell Biol 29: 2359-2371, 2009
    • (2009) Mol Cell Biol , vol.29 , pp. 2359-2371
    • Distefano, G.1    Boca, M.2    Rowe, I.3    Wodarczyk, C.4    Ma, L.5    Piontek, K.B.6    Germino, G.G.7    Pandolfi, P.P.8    Boletta, A.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.