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Volumn 125, Issue 9, 2015, Pages 3657-3666

DNA replication stress underlies renal phenotypes in CEP290-Associated Joubert syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CENTROSOMAL PROTEIN 290; CYCLIN A; CYCLIN B; CYCLIN DEPENDENT KINASE; CYCLIN DEPENDENT KINASE INHIBITOR; DNA; DOUBLE STRANDED DNA; PROTEIN; UNCLASSIFIED DRUG; CENTROSOMAL PROTEIN 290, ZEBRAFISH; CEP290 PROTEIN, HUMAN; CEP290 PROTEIN, MOUSE; MICROTUBULE ASSOCIATED PROTEIN; NUCLEAR PROTEIN; TUMOR ANTIGEN; TUMOR PROTEIN; ZEBRAFISH PROTEIN;

EID: 84941651263     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI80657     Document Type: Article
Times cited : (44)

References (32)
  • 1
    • 33745230448 scopus 로고    scopus 로고
    • The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
    • Sayer JA, et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006;38(6):674-681.
    • (2006) Nat Genet , vol.38 , Issue.6 , pp. 674-681
    • Sayer, J.A.1
  • 2
    • 78149296423 scopus 로고    scopus 로고
    • CEP290, a gene with many faces: Mutation overview and presentation of CEP290base
    • Coppieters F, Lefever S, Leroy BP, De Baere E. CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat. 2010;31(10):1097-1108.
    • (2011) Hum Mutat , vol.31 , Issue.10 , pp. 1097-1108
    • Coppieters, F.1    Lefever, S.2    Leroy, B.P.3    De Baere, E.4
  • 4
    • 84872018952 scopus 로고    scopus 로고
    • High-Throughput mutation analysis in patients with a nephronophthisisassociated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
    • Halbritter J, et al. High-Throughput mutation analysis in patients with a nephronophthisisassociated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J Med Genet. 2012;49(12):756-767.
    • (2012) J Med Genet , vol.49 , Issue.12 , pp. 756-767
    • Halbritter, J.1
  • 5
    • 58149504281 scopus 로고    scopus 로고
    • Nephronophthisis: Disease mechanisms of a ciliopathy
    • Hildebrandt F, Attanasio M, Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 2009;20(1):23-35.
    • (2009) J Am Soc Nephrol , vol.20 , Issue.1 , pp. 23-35
    • Hildebrandt, F.1    Attanasio, M.2    Otto, E.3
  • 7
    • 84871742909 scopus 로고    scopus 로고
    • The centriolar satellite protein Cep131 is important for genome stability
    • Staples CJ, et al. The centriolar satellite protein Cep131 is important for genome stability. J Cell Sci. 2012;125(pt 20):4770-4779.
    • (2012) J Cell Sci , vol.125 , pp. 4770-4779
    • Staples, C.J.1
  • 8
    • 84903789507 scopus 로고    scopus 로고
    • Ccdc13 is a novel human centriolar satellite protein required for ciliogenesis and genome stability
    • Staples CJ, et al. Ccdc13 is a novel human centriolar satellite protein required for ciliogenesis and genome stability. J Cell Sci. 2014; 127(pt 13):2910-2919.
    • (2014) J Cell Sci , vol.127 , pp. 2910-2919
    • Staples, C.J.1
  • 9
    • 84875786305 scopus 로고    scopus 로고
    • ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice
    • Valdes-Sanchez L, et al. ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice. Hum Mol Genet. 2013;22(8):1507-1515.
    • (2013) Hum Mol Genet , vol.22 , Issue.8 , pp. 1507-1515
    • Valdes-Sanchez, L.1
  • 10
    • 84888433372 scopus 로고    scopus 로고
    • Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis
    • Basten SG, Giles RH. Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis. Cilia. 2013;2(1):6.
    • (2013) Cilia , vol.2 , Issue.1 , pp. 6
    • Basten, S.G.1    Giles, R.H.2
  • 11
    • 79955808192 scopus 로고    scopus 로고
    • Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
    • Sang L, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011;145(4):513-528.
    • (2011) Cell , vol.145 , Issue.4 , pp. 513-528
    • Sang, L.1
  • 13
    • 77956375302 scopus 로고    scopus 로고
    • NPHP proteins: Gatekeepers of the ciliary compartment
    • Omran H. NPHP proteins: gatekeepers of the ciliary compartment. J Cell Biol. 2010;190(5):715-717.
    • (2011) J Cell Biol , vol.190 , Issue.5 , pp. 715-717
    • Omran, H.1
  • 14
    • 84864584531 scopus 로고    scopus 로고
    • Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
    • Chaki M, et al. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 2012;150(3):533-548.
    • (2012) Cell , vol.150 , Issue.3 , pp. 533-548
    • Chaki, M.1
  • 15
    • 84908535721 scopus 로고    scopus 로고
    • Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling
    • Airik R, et al. Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling. J Am Soc Nephrol. 2014;25(11):2573-2583.
    • (2014) J Am Soc Nephrol , vol.25 , Issue.11 , pp. 2573-2583
    • Airik, R.1
  • 16
    • 84882667020 scopus 로고    scopus 로고
    • NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies
    • Choi HJ, et al. NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies. Mol Cell. 2013;51(4):423-439.
    • (2013) Mol Cell , vol.51 , Issue.4 , pp. 423-439
    • Choi, H.J.1
  • 18
    • 84929505579 scopus 로고    scopus 로고
    • Are renal ciliopathies (replication) stressed out?
    • Slaats GG, Giles RH. Are renal ciliopathies (replication) stressed out? Trends Cell Biol. 2015;25(6):317-319.
    • (2015) Trends Cell Biol , vol.25 , Issue.6 , pp. 317-319
    • Slaats, G.G.1    Giles, R.H.2
  • 19
    • 84904012713 scopus 로고    scopus 로고
    • Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis
    • Hynes AM, et al. Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis. Proc Natl Acad Sci U S A. 2014;111(27):9893-9898.
    • (2014) Proc Natl Acad Sci U S A , vol.111 , Issue.27 , pp. 9893-9898
    • Hynes, A.M.1
  • 21
    • 84891301320 scopus 로고    scopus 로고
    • Causes and consequences of replication stress
    • Zeman MK, Cimprich KA. Causes and consequences of replication stress. Nat Cell Biol. 2014;16(1):2-9.
    • (2014) Nat Cell Biol , vol.16 , Issue.1 , pp. 2-9
    • Zeman, M.K.1    Cimprich, K.A.2
  • 22
    • 0032559794 scopus 로고    scopus 로고
    • Replicon clusters are stable units of chromosome structure: Evidence that nuclear organization contributes to the efficient activation and propagation of S phase in human cells
    • Jackson DA, Pombo A. Replicon clusters are stable units of chromosome structure: evidence that nuclear organization contributes to the efficient activation and propagation of S phase in human cells. J Cell Biol. 1998;140(6):1285-1295.
    • (1998) J Cell Biol , vol.140 , Issue.6 , pp. 1285-1295
    • Jackson, D.A.1    Pombo, A.2
  • 23
    • 0030867582 scopus 로고    scopus 로고
    • Conservation of the Chk1 checkpoint pathway in mammals: Linkage of DNA damage to Cdk regulation through Cdc25
    • Sanchez Y, et al. Conservation of the Chk1 checkpoint pathway in mammals: linkage of DNA damage to Cdk regulation through Cdc25. Science. 1997;277(5331):1497-1501.
    • (1997) Science , vol.277 , Issue.5331 , pp. 1497-1501
    • Sanchez, Y.1
  • 24
    • 77949410508 scopus 로고    scopus 로고
    • Regulators of cyclin-dependent kinases are crucial for maintaining genome integrity in S phase
    • Beck H, et al. Regulators of cyclin-dependent kinases are crucial for maintaining genome integrity in S phase. J Cell Biol. 2010;188(5):629-638.
    • (2011) J Cell Biol , vol.188 , Issue.5 , pp. 629-638
    • Beck, H.1
  • 25
    • 84869398488 scopus 로고    scopus 로고
    • CDK inhibitors R-roscovitine and S-CR8 effectively block renal and hepatic cystogenesis in an orthologous model of ADPKD
    • Bukanov NO, et al. CDK inhibitors R-roscovitine and S-CR8 effectively block renal and hepatic cystogenesis in an orthologous model of ADPKD. Cell Cycle. 2012;11(21):4040-4046.
    • (2012) Cell Cycle , vol.11 , Issue.21 , pp. 4040-4046
    • Bukanov, N.O.1
  • 26
    • 33845909549 scopus 로고    scopus 로고
    • Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine
    • Bukanov NO, Smith LA, Klinger KW, Ledbetter SR, Ibraghimov-Beskrovnaya O. Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine. Nature. 2006;444(7121):949-952.
    • (2006) Nature , vol.444 , Issue.7121 , pp. 949-952
    • Bukanov, N.O.1    Smith, L.A.2    Klinger, K.W.3    Ledbetter, S.R.4    Ibraghimov-Beskrovnaya, O.5
  • 27
    • 84864413963 scopus 로고    scopus 로고
    • FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
    • Zhou W, et al. FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. Nat Genet. 2012;44(8):910-915.
    • (2012) Nat Genet , vol.44 , Issue.8 , pp. 910-915
    • Zhou, W.1
  • 28
    • 0032905866 scopus 로고    scopus 로고
    • Corticosteroid-dependent sodium transport in a novel immortalized mouse collecting duct principal cell line
    • Bens M, et al. Corticosteroid-dependent sodium transport in a novel immortalized mouse collecting duct principal cell line. J Am Soc Nephrol. 1999;10(5):923-934.
    • (1999) J Am Soc Nephrol , vol.10 , Issue.5 , pp. 923-934
    • Bens, M.1
  • 29
    • 84870604270 scopus 로고    scopus 로고
    • Generation of human induced pluripotent stem cells from urine samples
    • Zhou T, et al. Generation of human induced pluripotent stem cells from urine samples. Nat Protoc. 2012;7(12):2080-2089.
    • (2012) Nat Protoc , vol.7 , Issue.12 , pp. 2080-2089
    • Zhou, T.1
  • 30
    • 84941639441 scopus 로고    scopus 로고
    • 3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders
    • Giles RH, Ajzenberg H, Jackson PK. 3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders. Nat Protoc. 2014;9(12):2725-2731.
    • (2014) Nat Protoc , vol.9 , Issue.12 , pp. 2725-2731
    • Giles, R.H.1    Ajzenberg, H.2    Jackson, P.K.3
  • 31
    • 30944435598 scopus 로고    scopus 로고
    • Rapid PIKK-dependent release of Chk1 from chromatin promotes the DNA-damage checkpoint response
    • Smits VA, Reaper PM, Jackson SP. Rapid PIKK-dependent release of Chk1 from chromatin promotes the DNA-damage checkpoint response. Curr Biol. 2006;16(2):150-159.
    • (2006) Curr Biol , vol.16 , Issue.2 , pp. 150-159
    • Smits, V.A.1    Reaper, P.M.2    Jackson, S.P.3
  • 32
    • 34249999528 scopus 로고    scopus 로고
    • Live-cell assay for detection of apoptosis by dual-laser flow cytometry using Hoechst 33342 and 7-Amino-Actinomycin D
    • Schmid I, Uittenbogaart C, Jamieson BD. Live-cell assay for detection of apoptosis by dual-laser flow cytometry using Hoechst 33342 and 7-Amino-Actinomycin D. Nat Protoc. 2007;2(1):187-190.
    • (2007) Nat Protoc , vol.2 , Issue.1 , pp. 187-190
    • Schmid, I.1    Uittenbogaart, C.2    Jamieson, B.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.