메뉴 건너뛰기




Volumn 47, Issue , 2013, Pages 353-376

Expanding horizons: Ciliary proteins reach beyond cilia

Author keywords

Heterotaxy; Intraflagellar transport; Joubert syndrome; Left right asymmetry; Polycystic kidney disease; Zebrafish

Indexed keywords

AXONEMAL DYNEIN; CARRIER PROTEIN; CELL PROTEIN; CILIARY PROTEIN; CYTOPLASMIC DYNEIN; HUNTINGTIN; HUNTINGTIN ASSOCIATED PROTEIN 1; INTRAFLAGELLAR TRANSPORT PROTEIN; KINESIN; KINESIN 2; KINESIN 3A; KINESIN 3B; PERICENTRIOLAR MATERIAL 1 PROTEIN; POLYCYSTIN 1; POLYCYSTIN 2; PROTEIN; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG;

EID: 84887135056     PISSN: 00664197     EISSN: 15452948     Source Type: Book Series    
DOI: 10.1146/annurev-genet-111212-133243     Document Type: Review
Times cited : (61)

References (152)
  • 1
    • 80052802365 scopus 로고    scopus 로고
    • Tol2-mediated transgenesis, gene trapping, enhancer trapping, and the Gal4-UAS system
    • Abe G, Suster ML, Kawakami K. 2011. Tol2-mediated transgenesis, gene trapping, enhancer trapping, and the Gal4-UAS system. Methods Cell Biol. 104:23-49
    • (2011) Methods Cell Biol. , vol.104 , pp. 23-49
    • Abe, G.1    Suster, M.L.2    Kawakami, K.3
  • 2
    • 0017162819 scopus 로고
    • A human syndrome caused by immotile cilia
    • Afzelius BA. 1976. A human syndrome caused by immotile cilia. Science 193:317-19
    • (1976) Science , vol.193 , pp. 317-319
    • Afzelius, B.A.1
  • 4
    • 77951210203 scopus 로고    scopus 로고
    • Cilia and Hedgehog signaling in the mouse embryo
    • Anderson KV. 2006. Cilia and Hedgehog signaling in the mouse embryo. Harvey Lect. 102:103-15
    • (2006) Harvey Lect. , vol.102 , pp. 103-115
    • Anderson, K.V.1
  • 5
    • 0142104970 scopus 로고    scopus 로고
    • Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
    • Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, et al. 2003. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425:628-33
    • (2003) Nature , vol.425 , pp. 628-633
    • Ansley, S.J.1    Badano, J.L.2    Blacque, O.E.3    Hill, J.4    Hoskins, B.E.5
  • 6
    • 84873988112 scopus 로고    scopus 로고
    • Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms
    • Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, et al. 2013. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum. Mutat. 34:462-72
    • (2013) Hum. Mutat. , vol.34 , pp. 462-472
    • Antony, D.1    Becker-Heck, A.2    Zariwala, M.A.3    Schmidts, M.4    Onoufriadis, A.5
  • 7
    • 2342657884 scopus 로고    scopus 로고
    • Decoding cilia function: Defining specialized genes required for compartmentalized cilia biogenesis
    • Avidor-Reiss T, Maer AM, Koundakjian E, Polyanovsky A, Keil T, et al. 2004. Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis. Cell 117:527-39
    • (2004) Cell , vol.117 , pp. 527-539
    • Avidor-Reiss, T.1    Maer, A.M.2    Koundakjian, E.3    Polyanovsky, A.4    Keil, T.5
  • 8
    • 0014600360 scopus 로고
    • The spermatozoon of Arthropoda. VI. Ephemeroptera
    • Baccetti B, Dallai R, Giusti F. 1969. The spermatozoon of Arthropoda. VI. Ephemeroptera. J. Ultrastruct. Res. 29:343-49
    • (1969) J. Ultrastruct. Res. , vol.29 , pp. 343-349
    • Baccetti, B.1    Dallai, R.2    Giusti, F.3
  • 9
    • 52049105357 scopus 로고    scopus 로고
    • Sensory roles of neuronal cilia: Cilia development, morphogenesis, and function in C elegans
    • Bae YK, Barr MM. 2008. Sensory roles of neuronal cilia: cilia development, morphogenesis, and function in C elegans. Front. Biosci. 13:5959-74
    • (2008) Front. Biosci. , vol.13 , pp. 5959-5974
    • Bae, Y.K.1    Barr, M.M.2
  • 10
    • 29644441705 scopus 로고    scopus 로고
    • Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus
    • Banizs B, Pike MM, Millican CL, Ferguson WB, Komlosi P, et al. 2005. Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus. Development 132:5329-39
    • (2005) Development , vol.132 , pp. 5329-5339
    • Banizs, B.1    Pike, M.M.2    Millican, C.L.3    Ferguson, W.B.4    Komlosi, P.5
  • 11
    • 0033598394 scopus 로고    scopus 로고
    • A polycystic kidney-disease gene homologue required for male mating behaviour in C elegans
    • Barr MM, Sternberg PW. 1999. A polycystic kidney-disease gene homologue required for male mating behaviour in C elegans. Nature 401:386-89
    • (1999) Nature , vol.401 , pp. 386-389
    • Barr, M.M.1    Sternberg, P.W.2
  • 12
    • 78651254549 scopus 로고    scopus 로고
    • The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
    • Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, et al. 2011. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat. Genet. 43:79-84
    • (2011) Nat. Genet. , vol.43 , pp. 79-84
    • Becker-Heck, A.1    Zohn, I.E.2    Okabe, N.3    Pollock, A.4    Lenhart, K.B.5
  • 16
    • 79955557285 scopus 로고    scopus 로고
    • Primary cilia control telencephalic patterning and morphogenesis via Gli3 proteolytic processing
    • Besse L, Neti M, Anselme I, Gerhardt C, Ruther U, et al. 2011. Primary cilia control telencephalic patterning and morphogenesis via Gli3 proteolytic processing. Development 138:2079-88
    • (2011) Development , vol.138 , pp. 2079-2088
    • Besse, L.1    Neti, M.2    Anselme, I.3    Gerhardt, C.4    Ruther, U.5
  • 17
    • 84865306296 scopus 로고    scopus 로고
    • Hedgehog-stimulated chemotaxis is mediated by Smoothened located outside the primary cilium
    • Bijlsma MF, Damhofer H, Roelink H. 2012. Hedgehog-stimulated chemotaxis is mediated by Smoothened located outside the primary cilium. Sci. Signal. 5:ra60
    • (2012) Sci. Signal. , vol.5
    • Bijlsma, M.F.1    Damhofer, H.2    Roelink, H.3
  • 18
    • 78649238299 scopus 로고    scopus 로고
    • Primary cilium-dependent and-independent Hedgehog signaling inhibits p16(INK4A)
    • Bishop CL, Bergin AM, Fessart D, Borgdorff V, Hatzimasoura E, et al. 2010. Primary cilium-dependent and-independent Hedgehog signaling inhibits p16(INK4A). Mol. Cell 40:533-47
    • (2010) Mol. Cell , vol.40 , pp. 533-547
    • Bishop, C.L.1    Bergin, A.M.2    Fessart, D.3    Borgdorff, V.4    Hatzimasoura, E.5
  • 19
    • 38049092146 scopus 로고    scopus 로고
    • Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain
    • Bishop GA, Berbari NF, Lewis J, Mykytyn K. 2007. Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain. J. Comp. Neurol. 505:562-71
    • (2007) J. Comp. Neurol. , vol.505 , pp. 562-571
    • Bishop, G.A.1    Berbari, N.F.2    Lewis, J.3    Mykytyn, K.4
  • 20
    • 84864079368 scopus 로고    scopus 로고
    • Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
    • Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, et al. 2012. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. J. Med. Genet. 49:410-16
    • (2012) J. Med. Genet. , vol.49 , pp. 410-416
    • Blanchon, S.1    Legendre, M.2    Copin, B.3    Duquesnoy, P.4    Montantin, G.5
  • 21
    • 77950505396 scopus 로고    scopus 로고
    • Vangl2 directs the posterior tilting and asymmetric localization of motile primary cilia
    • Borovina A, Superina S, Voskas D, Ciruna B. 2010. Vangl2 directs the posterior tilting and asymmetric localization of motile primary cilia. Nat. Cell Biol. 12:407-12
    • (2010) Nat. Cell Biol. , vol.12 , pp. 407-412
    • Borovina, A.1    Superina, S.2    Voskas, D.3    Ciruna, B.4
  • 23
    • 79953644850 scopus 로고    scopus 로고
    • Mechanical properties of organelles driven by microtubule-dependent molecular motors in living cells
    • Bruno L, Salierno M, Wetzler DE, Desposito MA, Levi V. 2011. Mechanical properties of organelles driven by microtubule-dependent molecular motors in living cells. PLoS ONE 6:e18332
    • (2011) PLoS ONE , vol.6
    • Bruno, L.1    Salierno, M.2    Wetzler, D.E.3    Desposito, M.A.4    Levi, V.5
  • 24
    • 84866072998 scopus 로고    scopus 로고
    • Highly efficient generation of heritable zebrafish gene mutations using homo-and heterodimeric TALENs
    • Cade L, Reyon D, Hwang WY, Tsai SQ, Patel S, et al. 2012. Highly efficient generation of heritable zebrafish gene mutations using homo-and heterodimeric TALENs. Nucleic Acids Res. 40:8001-10
    • (2012) Nucleic Acids Res. , vol.40 , pp. 8001-8010
    • Cade, L.1    Reyon, D.2    Hwang, W.Y.3    Tsai, S.Q.4    Patel, S.5
  • 25
  • 26
    • 77955641184 scopus 로고    scopus 로고
    • Intraflagellar transport proteins are essential for cilia formation and for planar cell polarity
    • Cao Y, Park A, Sun Z. 2010. Intraflagellar transport proteins are essential for cilia formation and for planar cell polarity. J. Am. Soc. Nephrol. 21:1326-33
    • (2010) J. Am. Soc. Nephrol. , vol.21 , pp. 1326-1333
    • Cao, Y.1    Park, A.2    Sun, Z.3
  • 27
    • 76049128716 scopus 로고    scopus 로고
    • Chemical modifier screen identifies HDAC inhibitors as suppressors of PKD models
    • Cao Y, Semanchik N, Lee SH, Somlo S, Barbano PE, et al. 2009. Chemical modifier screen identifies HDAC inhibitors as suppressors of PKD models. Proc. Natl. Acad. Sci. USA 106:21819-24
    • (2009) Proc. Natl. Acad. Sci. USA , vol.106 , pp. 21819-21824
    • Cao, Y.1    Semanchik, N.2    Lee, S.H.3    Somlo, S.4    Barbano, P.E.5
  • 28
    • 84864584531 scopus 로고    scopus 로고
    • Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
    • Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, et al. 2012. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 150:533-48
    • (2012) Cell , vol.150 , pp. 533-548
    • Chaki, M.1    Airik, R.2    Ghosh, A.K.3    Giles, R.H.4    Chen, R.5
  • 29
    • 34848902919 scopus 로고    scopus 로고
    • Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool
    • Chizhikov VV, Davenport J, Zhang Q, Shih EK, Cabello OA, et al. 2007. Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool. J. Neurosci. 27:9780-89
    • (2007) J. Neurosci. , vol.27 , pp. 9780-9789
    • Chizhikov, V.V.1    Davenport, J.2    Zhang, Q.3    Shih, E.K.4    Cabello, O.A.5
  • 30
    • 36949040344 scopus 로고    scopus 로고
    • Controversies, genetics, diagnostic assessment, and outcomes relating to the heterotaxy syndrome
    • Cohen MS, Anderson RH, Cohen MI, Atz AM, Fogel M, et al. 2007. Controversies, genetics, diagnostic assessment, and outcomes relating to the heterotaxy syndrome. Cardiol. Young 17(Suppl. 2):29-43
    • (2007) Cardiol. Young , vol.17 , Issue.SUPPL. 2 , pp. 29-43
    • Cohen, M.S.1    Anderson, R.H.2    Cohen, M.I.3    Atz, A.M.4    Fogel, M.5
  • 31
    • 26244458901 scopus 로고    scopus 로고
    • Intraflagellar transport: Keeping the motors coordinated
    • Cole DG. 2005. Intraflagellar transport: keeping the motors coordinated. Curr. Biol. 15:R798-801
    • (2005) Curr. Biol. , vol.15
    • Cole, D.G.1
  • 32
    • 0027519779 scopus 로고
    • Novel heterotrimeric kinesin-related protein purified from sea urchin eggs
    • Cole DG, Chinn SW, Wedaman KP, Hall K, Vuong T, Scholey JM. 1993. Novel heterotrimeric kinesin-related protein purified from sea urchin eggs. Nature 366:268-70
    • (1993) Nature , vol.366 , pp. 268-270
    • Cole, D.G.1    Chinn, S.W.2    Wedaman, K.P.3    Hall, K.4    Vuong, T.5    Scholey, J.M.6
  • 33
    • 0031750484 scopus 로고    scopus 로고
    • Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons
    • Cole DG, Diener DR, Himelblau AL, Beech PL, Fuster JC, Rosenbaum JL. 1998. Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons. J. Cell Biol. 141:993-1008
    • (1998) J. Cell Biol. , vol.141 , pp. 993-1008
    • Cole, D.G.1    Diener, D.R.2    Himelblau, A.L.3    Beech, P.L.4    Fuster, J.C.5    Rosenbaum, J.L.6
  • 34
    • 84873729095 scopus 로고    scopus 로고
    • Multiplex genome engineering using CRISPR/Cas systems
    • Cong L, Ran FA, Cox D, Lin S, Barretto R, et al. 2013. Multiplex genome engineering using CRISPR/Cas systems. Science 339:819-23
    • (2013) Science , vol.339 , pp. 819-823
    • Cong, L.1    Ran, F.A.2    Cox, D.3    Lin, S.4    Barretto, R.5
  • 36
    • 37749054886 scopus 로고    scopus 로고
    • Kif3a constrains β-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms
    • Corbit KC, Shyer AE, Dowdle WE, Gaulden J, Singla V, et al. 2008. Kif3a constrains β-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms. Nat. Cell Biol. 10:70-76
    • (2008) Nat. Cell Biol. , vol.10 , pp. 70-76
    • Corbit, K.C.1    Shyer, A.E.2    Dowdle, W.E.3    Gaulden, J.4    Singla, V.5
  • 37
    • 23444439656 scopus 로고    scopus 로고
    • Planar cell polarity and a potential role for a Wnt morphogen gradient in stereociliary bundle orientation in the mammalian inner ear
    • Dabdoub A, Kelley MW. 2005. Planar cell polarity and a potential role for a Wnt morphogen gradient in stereociliary bundle orientation in the mammalian inner ear. J. Neurobiol. 64:446-57
    • (2005) J. Neurobiol. , vol.64 , pp. 446-457
    • Dabdoub, A.1    Kelley, M.W.2
  • 38
    • 84866156176 scopus 로고    scopus 로고
    • Simple methods for generating and detecting locus-specific mutations induced with TALENs in the zebrafish genome
    • Dahlem TJ, Hoshijima K, Jurynec MJ, Gunther D, Starker CG, et al. 2012. Simple methods for generating and detecting locus-specific mutations induced with TALENs in the zebrafish genome. PLoS Genet. 8:e1002861
    • (2012) PLoS Genet. , vol.8
    • Dahlem, T.J.1    Hoshijima, K.2    Jurynec, M.J.3    Gunther, D.4    Starker, C.G.5
  • 39
    • 0035899865 scopus 로고    scopus 로고
    • Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles
    • Deane JA, Cole DG, Seeley ES, Diener DR, Rosenbaum JL. 2001. Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles. Curr. Biol. 11:1586-90
    • (2001) Curr. Biol. , vol.11 , pp. 1586-1590
    • Deane, J.A.1    Cole, D.G.2    Seeley, E.S.3    Diener, D.R.4    Rosenbaum, J.L.5
  • 41
    • 0014722707 scopus 로고
    • Cilia in axolotl neurons (Siredon mexicanum)
    • Del Cerro MP, Snider RS. 1970. Cilia in axolotl neurons (Siredon mexicanum). Experientia 26:774-76
    • (1970) Experientia , vol.26 , pp. 774-776
    • Del Cerro, M.P.1    Snider, R.S.2
  • 42
    • 70349163999 scopus 로고    scopus 로고
    • Joubert syndrome: Insights into brain development, cilium biology, and complex disease
    • Doherty D. 2009. Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin. Pediatr. Neurol. 16:143-54
    • (2009) Semin. Pediatr. Neurol. , vol.16 , pp. 143-154
    • Doherty, D.1
  • 43
    • 44949155482 scopus 로고    scopus 로고
    • Heritable targeted gene disruption in zebrafish using designed zinc-finger nucleases
    • Doyon Y, McCammon JM, Miller JC, Faraji F, Ngo C, et al. 2008. Heritable targeted gene disruption in zebrafish using designed zinc-finger nucleases. Nat. Biotechnol. 26:702-8
    • (2008) Nat. Biotechnol. , vol.26 , pp. 702-708
    • Doyon, Y.1    McCammon, J.M.2    Miller, J.C.3    Faraji, F.4    Ngo, C.5
  • 44
    • 71449084986 scopus 로고    scopus 로고
    • Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia
    • Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, et al. 2009. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am. J. Hum. Genet. 85:890-96
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 890-896
    • Duquesnoy, P.1    Escudier, E.2    Vincensini, L.3    Freshour, J.4    Bridoux, A.M.5
  • 45
    • 77954087386 scopus 로고    scopus 로고
    • Newly emerging roles for prostaglandin E2 regulation of hematopoiesis and hematopoietic stem cell engraftment
    • Durand EM, Zon LI. 2010. Newly emerging roles for prostaglandin E2 regulation of hematopoiesis and hematopoietic stem cell engraftment. Curr. Opin. Hematol. 17:308-12
    • (2010) Curr. Opin. Hematol. , vol.17 , pp. 308-312
    • Durand, E.M.1    Zon, L.I.2
  • 47
    • 79952584346 scopus 로고    scopus 로고
    • Rare copy number variants in congenital heart disease patients identify genes in left-right patterning
    • Fakhro KA, Choi M, Ware S, Belmont J, Towbin J, et al. 2011. Rare copy number variants in congenital heart disease patients identify genes in left-right patterning. Proc. Natl. Acad. Sci. USA 108:2915-20
    • (2011) Proc. Natl. Acad. Sci. USA , vol.108 , pp. 2915-2920
    • Fakhro, K.A.1    Choi, M.2    Ware, S.3    Belmont, J.4    Towbin, J.5
  • 48
    • 33845354764 scopus 로고    scopus 로고
    • Three types of cilia including a novel 9+4 axoneme on the notochordal plate of the rabbit embryo
    • Feistel K, Blum M. 2006. Three types of cilia including a novel 9+4 axoneme on the notochordal plate of the rabbit embryo. Dev. Dyn. 235:3348-58
    • (2006) Dev. Dyn. , vol.235 , pp. 3348-3358
    • Feistel, K.1    Blum, M.2
  • 49
    • 84858840334 scopus 로고    scopus 로고
    • Ciliopathies: The central role of cilia in a spectrum of pediatric disorders
    • Ferkol TW, Leigh MW. 2012. Ciliopathies: the central role of cilia in a spectrum of pediatric disorders. J. Pediatr. 160:366-71
    • (2012) J. Pediatr. , vol.160 , pp. 366-371
    • Ferkol, T.W.1    Leigh, M.W.2
  • 50
    • 70449517408 scopus 로고    scopus 로고
    • Intraflagellar transport is required for polarized recycling of the TCR/CD3 complex to the immune synapse
    • Finetti F, Paccani SR, Riparbelli MG, Giacomello E, Perinetti G, et al. 2009. Intraflagellar transport is required for polarized recycling of the TCR/CD3 complex to the immune synapse. Nat. Cell Biol. 11:1332-39
    • (2009) Nat. Cell Biol. , vol.11 , pp. 1332-1339
    • Finetti, F.1    Paccani, S.R.2    Riparbelli, M.G.3    Giacomello, E.4    Perinetti, G.5
  • 51
    • 33748327050 scopus 로고    scopus 로고
    • The intraflagellar transport protein IFT20 is associated with the golgi complex and is required for cilia assembly
    • Follit JA, Tuft RA, Fogarty KE, Pazour GJ. 2006. The intraflagellar transport protein IFT20 is associated with the golgi complex and is required for cilia assembly. Mol. Biol. Cell 17:3781-92
    • (2006) Mol. Biol. Cell , vol.17 , pp. 3781-3792
    • Follit, J.A.1    Tuft, R.A.2    Fogarty, K.E.3    Pazour, G.J.4
  • 52
    • 0031718358 scopus 로고    scopus 로고
    • The role of preassembled cytoplasmic complexes in assembly of flagellar dynein subunits
    • Fowkes ME, Mitchell DR. 1998. The role of preassembled cytoplasmic complexes in assembly of flagellar dynein subunits. Mol. Biol. Cell 9:2337-47
    • (1998) Mol. Biol. Cell , vol.9 , pp. 2337-2347
    • Fowkes, M.E.1    Mitchell, D.R.2
  • 54
    • 10744229593 scopus 로고    scopus 로고
    • Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes
    • discuss. 17
    • Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, et al. 2004. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am. J. Med. Genet. A 125A:125-34; discuss. 17
    • (2004) Am. J. Med. Genet. A , vol.125 A , pp. 125-134
    • Gleeson, J.G.1    Keeler, L.C.2    Parisi, M.A.3    Marsh, S.E.4    Chance, P.F.5
  • 55
    • 77951101203 scopus 로고    scopus 로고
    • The primary cilium: A signalling centre during vertebrate development
    • Goetz S, Anderson K. 2010. The primary cilium: a signalling centre during vertebrate development. Nat. Rev. Genet. 11:331-44
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 331-344
    • Goetz, S.1    Anderson, K.2
  • 56
    • 84869069719 scopus 로고    scopus 로고
    • The spinocerebellar ataxia-associated gene tau tubulin kinase 2 controls the initiation of ciliogenesis
    • Goetz SC, Liem KF Jr, Anderson KV. 2012. The spinocerebellar ataxia-associated gene tau tubulin kinase 2 controls the initiation of ciliogenesis. Cell 151:847-58
    • (2012) Cell , vol.151 , pp. 847-858
    • Goetz, S.C.1    Liem Jr., K.F.2    Anderson, K.V.3
  • 57
    • 84861075586 scopus 로고    scopus 로고
    • KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
    • Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, et al. 2012. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature 485:363-67
    • (2012) Nature , vol.485 , pp. 363-367
    • Golzio, C.1    Willer, J.2    Talkowski, M.E.3    Oh, E.C.4    Taniguchi, Y.5
  • 58
    • 77950498085 scopus 로고    scopus 로고
    • Coupling between hydrodynamic forces and planar cell polarity orients mammalian motile cilia
    • Guirao B, Meunier A, Mortaud S, Aguilar A, Corsi JM, et al. 2010. Coupling between hydrodynamic forces and planar cell polarity orients mammalian motile cilia. Nat. Cell Biol. 12:341-50
    • (2010) Nat. Cell Biol. , vol.12 , pp. 341-350
    • Guirao, B.1    Meunier, A.2    Mortaud, S.3    Aguilar, A.4    Corsi, J.M.5
  • 59
    • 39749112475 scopus 로고    scopus 로고
    • Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells
    • Han YG, Spassky N, Romaguera-Ros M, Garcia-Verdugo JM, Aguilar A, et al. 2008. Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells. Nat. Neurosci. 11(3):277-84
    • (2008) Nat. Neurosci. , vol.11 , Issue.3 , pp. 277-284
    • Han, Y.G.1    Spassky, N.2    Romaguera-Ros, M.3    Garcia-Verdugo, J.M.4    Aguilar, A.5
  • 62
    • 84869048113 scopus 로고    scopus 로고
    • Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex
    • Higginbotham H, Eom TY, Mariani LE, Bachleda A, Hirt J, et al. 2012. Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex. Dev. Cell 23:925-38
    • (2012) Dev. Cell , vol.23 , pp. 925-938
    • Higginbotham, H.1    Eom, T.Y.2    Mariani, L.E.3    Bachleda, A.4    Hirt, J.5
  • 64
    • 34249871086 scopus 로고    scopus 로고
    • Nephronophthisis-associated ciliopathies
    • Hildebrandt F, Zhou W. 2007. Nephronophthisis-associated ciliopathies. J. Am. Soc. Nephrol. 18:1855-71
    • (2007) J. Am. Soc. Nephrol. , vol.18 , pp. 1855-1871
    • Hildebrandt, F.1    Zhou, W.2
  • 65
    • 84867259922 scopus 로고    scopus 로고
    • Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia
    • Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, et al. 2012. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am. J. Hum. Genet. 91:685-93
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 685-693
    • Horani, A.1    Druley, T.E.2    Zariwala, M.A.3    Patel, A.C.4    Levinson, B.T.5
  • 66
    • 70349986352 scopus 로고    scopus 로고
    • Dampened Hedgehog signaling but normal Wnt signaling in zebrafish without cilia
    • Huang P, Schier AF. 2009. Dampened Hedgehog signaling but normal Wnt signaling in zebrafish without cilia. Development 136:3089-98
    • (2009) Development , vol.136 , pp. 3089-3098
    • Huang, P.1    Schier, A.F.2
  • 67
    • 31644442906 scopus 로고    scopus 로고
    • Signaling from Smo to Ci/Gli: Conservation and divergence of Hedgehog pathways from Drosophila to vertebrates
    • Huangfu D, Anderson KV. 2006. Signaling from Smo to Ci/Gli: conservation and divergence of Hedgehog pathways from Drosophila to vertebrates. Development 133:3-14
    • (2006) Development , vol.133 , pp. 3-14
    • Huangfu, D.1    Anderson, K.V.2
  • 69
    • 84874617789 scopus 로고    scopus 로고
    • Efficient genome editing in zebrafish using a CRISPR-Cas system
    • Hwang WY, Fu Y, Reyon D, Maeder ML, Tsai SQ, et al. 2013. Efficient genome editing in zebrafish using a CRISPR-Cas system. Nat. Biotechnol. 31:227-29
    • (2013) Nat. Biotechnol. , vol.31 , pp. 227-229
    • Hwang, W.Y.1    Fu, Y.2    Reyon, D.3    Maeder, M.L.4    Tsai, S.Q.5
  • 70
    • 79956308325 scopus 로고    scopus 로고
    • Mechanisms and functions of Hedgehog signalling across the metazoa
    • Ingham PW, Nakano Y, Seger C. 2011. Mechanisms and functions of Hedgehog signalling across the metazoa. Nat. Rev. Genet. 12:393-406
    • (2011) Nat. Rev. Genet. , vol.12 , pp. 393-406
    • Ingham, P.W.1    Nakano, Y.2    Seger, C.3
  • 74
    • 16644391315 scopus 로고    scopus 로고
    • Transgenesis and gene trap methods in zebrafish by using the Tol2 transposable element
    • Kawakami K. 2004. Transgenesis and gene trap methods in zebrafish by using the Tol2 transposable element. Methods Cell Biol. 77:201-22
    • (2004) Methods Cell Biol. , vol.77 , pp. 201-222
    • Kawakami, K.1
  • 75
    • 84860898145 scopus 로고    scopus 로고
    • IFT25 links the signal-dependent movement of Hedgehog components to intraflagellar transport
    • Keady BT, Samtani R, Tobita K, Tsuchya M, San Agustin JT, et al. 2012. IFT25 links the signal-dependent movement of Hedgehog components to intraflagellar transport. Dev. Cell 22:940-51
    • (2012) Dev. Cell , vol.22 , pp. 940-951
    • Keady, B.T.1    Samtani, R.2    Tobita, K.3    Tsuchya, M.4    San Agustin, J.T.5
  • 76
    • 80555136825 scopus 로고    scopus 로고
    • Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease
    • Keryer G, Pineda JR, Liot G, Kim J, Dietrich P, et al. 2011. Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease. J. Clin. Investig. 121:4372-82
    • (2011) J. Clin. Investig. , vol.121 , pp. 4372-4382
    • Keryer, G.1    Pineda, J.R.2    Liot, G.3    Kim, J.4    Dietrich, P.5
  • 77
    • 77954086015 scopus 로고    scopus 로고
    • Gli2a protein localization reveals a role for Iguana/DZIP1 in primary ciliogenesis and a dependence of Hedgehog signal transduction on primary cilia in the zebrafish
    • Kim HR, Richardson J, van Eeden F, Ingham PW. 2010. Gli2a protein localization reveals a role for Iguana/DZIP1 in primary ciliogenesis and a dependence of Hedgehog signal transduction on primary cilia in the zebrafish. BMC Biol. 8:65
    • (2010) BMC Biol. , vol.8 , pp. 65
    • Kim, H.R.1    Richardson, J.2    Van Eeden, F.3    Ingham, P.W.4
  • 78
    • 84872285578 scopus 로고    scopus 로고
    • Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
    • Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, et al. 2013. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am. J. Hum. Genet. 92:99-106
    • (2013) Am. J. Hum. Genet. , vol.92 , pp. 99-106
    • Knowles, M.R.1    Leigh, M.W.2    Ostrowski, L.E.3    Huang, L.4    Carson, J.L.5
  • 79
    • 84868384681 scopus 로고    scopus 로고
    • Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia
    • Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, et al. 2012. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am. J. Hum. Genet. 91:958-64
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 958-964
    • Kott, E.1    Duquesnoy, P.2    Copin, B.3    Legendre, M.4    Dastot-Le Moal, F.5
  • 81
    • 18844393668 scopus 로고    scopus 로고
    • Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis
    • Kramer-Zucker AG, Olale F, Haycraft CJ, Yoder BK, Schier AF, Drummond IA. 2005. Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis. Development 132:1907-21
    • (2005) Development , vol.132 , pp. 1907-1921
    • Kramer-Zucker, A.G.1    Olale, F.2    Haycraft, C.J.3    Yoder, B.K.4    Schier, A.F.5    Drummond, I.A.6
  • 82
    • 4444254983 scopus 로고    scopus 로고
    • Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
    • Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, et al. 2004. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat. Genet. 36:994-98
    • (2004) Nat. Genet. , vol.36 , pp. 994-998
    • Kulaga, H.M.1    Leitch, C.C.2    Eichers, E.R.3    Badano, J.L.4    Lesemann, A.5
  • 83
    • 84862776613 scopus 로고    scopus 로고
    • A role for primary cilia in glutamatergic synaptic integration of adult-born neurons
    • Kumamoto N, Gu Y, Wang J, Janoschka S, Takemaru K-I, et al. 2012. A role for primary cilia in glutamatergic synaptic integration of adult-born neurons. Nat. Neurosci. 15:399-405
    • (2012) Nat. Neurosci. , vol.15 , pp. 399-405
    • Kumamoto, N.1    Gu, Y.2    Wang, J.3    Janoschka, S.4    Takemaru, K.-I.5
  • 85
    • 36448963734 scopus 로고    scopus 로고
    • The Tol2kit: A multisite gateway-based construction kit for Tol2 transposon transgenesis constructs
    • Kwan KM, Fujimoto E, Grabher C, Mangum BD, Hardy ME, et al. 2007. The Tol2kit: a multisite gateway-based construction kit for Tol2 transposon transgenesis constructs. Dev. Dyn. 236:3088-99
    • (2007) Dev. Dyn. , vol.236 , pp. 3088-3099
    • Kwan, K.M.1    Fujimoto, E.2    Grabher, C.3    Mangum, B.D.4    Hardy, M.E.5
  • 86
    • 84862776744 scopus 로고    scopus 로고
    • CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
    • Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, et al. 2012. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat. Genet. 44:193-99
    • (2012) Nat. Genet. , vol.44 , pp. 193-199
    • Lee, J.E.1    Silhavy, J.L.2    Zaki, M.S.3    Schroth, J.4    Bielas, S.L.5
  • 88
    • 33644548583 scopus 로고    scopus 로고
    • Organelle transport along microtubules in Xenopus melanophores: Evidence for cooperation between multiple motors
    • Levi V, Serpinskaya AS, Gratton E, Gelfand V. 2006. Organelle transport along microtubules in Xenopus melanophores: evidence for cooperation between multiple motors. Biophys. J. 90:318-27
    • (2006) Biophys. J. , vol.90 , pp. 318-327
    • Levi, V.1    Serpinskaya, A.S.2    Gratton, E.3    Gelfand, V.4
  • 89
    • 2342501364 scopus 로고    scopus 로고
    • Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene
    • Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, et al. 2004. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 117:541-52
    • (2004) Cell , vol.117 , pp. 541-552
    • Li, J.B.1    Gerdes, J.M.2    Haycraft, C.J.3    Fan, Y.4    Teslovich, T.M.5
  • 90
    • 84864021901 scopus 로고    scopus 로고
    • The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking
    • Liem KF Jr, Ashe A, He M, Satir P, Moran J, et al. 2012. The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking. J. Cell Biol. 197:789-800
    • (2012) J. Cell Biol. , vol.197 , pp. 789-800
    • Liem Jr., K.F.1    Ashe, A.2    He, M.3    Satir, P.4    Moran, J.5
  • 91
    • 71149086940 scopus 로고    scopus 로고
    • Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects
    • Loges NT, Olbrich H, Becker-Heck A, Haffner K, Heer A, et al. 2009. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am. J. Hum. Genet. 85:883-89
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 883-889
    • Loges, N.T.1    Olbrich, H.2    Becker-Heck, A.3    Haffner, K.4    Heer, A.5
  • 92
    • 47349097567 scopus 로고    scopus 로고
    • Rapid "open-source" engineering of customized zinc-finger nucleases for highly efficient gene modification
    • Maeder ML, Thibodeau-Beganny S, Osiak A, Wright DA, Anthony RM, et al. 2008. Rapid "open-source" engineering of customized zinc-finger nucleases for highly efficient gene modification. Mol. Cell 31:294-301
    • (2008) Mol. Cell , vol.31 , pp. 294-301
    • Maeder, M.L.1    Thibodeau-Beganny, S.2    Osiak, A.3    Wright, D.A.4    Anthony, R.M.5
  • 93
    • 84873734105 scopus 로고    scopus 로고
    • RNA-guided human genome engineering via Cas9
    • Mali P, Yang L, Esvelt KM, Aach J, Guell M, et al. 2013. RNA-guided human genome engineering via Cas9. Science 339:823-26
    • (2013) Science , vol.339 , pp. 823-826
    • Mali, P.1    Yang, L.2    Esvelt, K.M.3    Aach, J.4    Guell, M.5
  • 95
    • 0024323974 scopus 로고
    • Primary cilia in normal human neocortical neurons
    • Mandl L, Megele R. 1989. Primary cilia in normal human neocortical neurons. Z. Mikrosk. Anat. Forsch. 103:425-30
    • (1989) Z. Mikrosk. Anat. Forsch. , vol.103 , pp. 425-430
    • Mandl, L.1    Megele, R.2
  • 96
    • 84867049711 scopus 로고    scopus 로고
    • A simple cell-based assay reveals that diverse neuropsychiatric risk genes converge on primary cilia
    • Marley A, von Zastrow M. 2012. A simple cell-based assay reveals that diverse neuropsychiatric risk genes converge on primary cilia. PLoS ONE 7:e46647
    • (2012) PLoS ONE , vol.7
    • Marley, A.1    Von Zastrow, M.2
  • 97
    • 44949162060 scopus 로고    scopus 로고
    • Targeted gene inactivation in zebrafish using engineered zinc-finger nucleases
    • Meng X, Noyes MB, Zhu LJ, Lawson ND, Wolfe SA. 2008. Targeted gene inactivation in zebrafish using engineered zinc-finger nucleases. Nat. Biotechnol. 26:695-701
    • (2008) Nat. Biotechnol. , vol.26 , pp. 695-701
    • Meng, X.1    Noyes, M.B.2    Zhu, L.J.3    Lawson, N.D.4    Wolfe, S.A.5
  • 98
    • 78651260210 scopus 로고    scopus 로고
    • CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
    • Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, et al. 2011. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat. Genet. 43:72-78
    • (2011) Nat. Genet. , vol.43 , pp. 72-78
    • Merveille, A.C.1    Davis, E.E.2    Becker-Heck, A.3    Legendre, M.4    Amirav, I.5
  • 100
    • 84859436123 scopus 로고    scopus 로고
    • Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
    • S1-2
    • Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, et al. 2012. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat. Genet. 44:381-89; S1-2
    • (2012) Nat. Genet. , vol.44 , pp. 381-389
    • Mitchison, H.M.1    Schmidts, M.2    Loges, N.T.3    Freshour, J.4    Dritsoula, A.5
  • 102
    • 84861361409 scopus 로고    scopus 로고
    • Improved somatic mutagenesis in zebrafish using transcription activator-like effector nucleases (TALENs)
    • Moore FE, Reyon D, Sander JD, Martinez SA, Blackburn JS, et al. 2012. Improved somatic mutagenesis in zebrafish using transcription activator-like effector nucleases (TALENs). PLoS ONE 7:e37877
    • (2012) PLoS ONE , vol.7
    • Moore, F.E.1    Reyon, D.2    Sander, J.D.3    Martinez, S.A.4    Blackburn, J.S.5
  • 103
    • 84872508509 scopus 로고    scopus 로고
    • The ciliary G-protein-coupled receptor Gpr161 negatively regulates the sonic hedgehog pathway via cAMP signaling
    • Mukhopadhyay S, Wen X, Ratti N, Loktev A, Rangell L, et al. 2013. The ciliary G-protein-coupled receptor Gpr161 negatively regulates the sonic hedgehog pathway via cAMP signaling. Cell 152:210-23
    • (2013) Cell , vol.152 , pp. 210-223
    • Mukhopadhyay, S.1    Wen, X.2    Ratti, N.3    Loktev, A.4    Rangell, L.5
  • 104
    • 34250012834 scopus 로고    scopus 로고
    • A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
    • Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, et al. 2007. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129:1201-13
    • (2007) Cell , vol.129 , pp. 1201-1213
    • Nachury, M.V.1    Loktev, A.V.2    Zhang, Q.3    Westlake, C.J.4    Peranen, J.5
  • 105
    • 84860720930 scopus 로고    scopus 로고
    • High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy
    • Nakhleh N, Francis R, Giese RA, Tian X, Li Y, et al. 2012. High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation 125:2232-42
    • (2012) Circulation , vol.125 , pp. 2232-2242
    • Nakhleh, N.1    Francis, R.2    Giese, R.A.3    Tian, X.4    Li, Y.5
  • 106
    • 73549122152 scopus 로고    scopus 로고
    • Multiple primary cilia modulate the fluid transcytosis in choroid plexus epithelium
    • Narita K, Kawate T, Kakinuma N, Takeda S. 2010. Multiple primary cilia modulate the fluid transcytosis in choroid plexus epithelium. Traffic 11:287-301
    • (2010) Traffic , vol.11 , pp. 287-301
    • Narita, K.1    Kawate, T.2    Kakinuma, N.3    Takeda, S.4
  • 107
    • 0032428685 scopus 로고    scopus 로고
    • Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein
    • Nonaka S, Tanaka Y, Okada Y, Takeda S, Harada A, et al. 1998. Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell 95:829-37
    • (1998) Cell , vol.95 , pp. 829-837
    • Nonaka, S.1    Tanaka, Y.2    Okada, Y.3    Takeda, S.4    Harada, A.5
  • 108
    • 34250883337 scopus 로고    scopus 로고
    • Prostaglandin E2 regulates vertebrate haematopoietic stem cell homeostasis
    • North TE, Goessling W, Walkley CR, Lengerke C, Kopani KR, et al. 2007. Prostaglandin E2 regulates vertebrate haematopoietic stem cell homeostasis. Nature 447:1007-11
    • (2007) Nature , vol.447 , pp. 1007-1011
    • North, T.E.1    Goessling, W.2    Walkley, C.R.3    Lengerke, C.4    Kopani, K.R.5
  • 109
    • 0036479029 scopus 로고    scopus 로고
    • Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry
    • Olbrich H, Haffner K, Kispert A, Volkel A, Volz A, et al. 2002. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat. Genet. 30:143-44
    • (2002) Nat. Genet. , vol.30 , pp. 143-144
    • Olbrich, H.1    Haffner, K.2    Kispert, A.3    Volkel, A.4    Volz, A.5
  • 110
    • 84872342461 scopus 로고    scopus 로고
    • Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia
    • Onoufriadis A, Paff T, Antony D, Shoemark A, Micha D, et al. 2013. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. Am. J. Hum. Genet. 92:88-98
    • (2013) Am. J. Hum. Genet. , vol.92 , pp. 88-98
    • Onoufriadis, A.1    Paff, T.2    Antony, D.3    Shoemark, A.4    Micha, D.5
  • 111
    • 18344366124 scopus 로고    scopus 로고
    • PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription- factor domains and parallel β-helix 1 repeats
    • Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, et al. 2002. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel β-helix 1 repeats. Am. J. Hum. Genet. 70:1305-17
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1305-1317
    • Onuchic, L.F.1    Furu, L.2    Nagasawa, Y.3    Hou, X.4    Eggermann, T.5
  • 112
    • 77957557692 scopus 로고    scopus 로고
    • Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
    • Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, et al. 2010. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat. Genet. 42:840-50
    • (2010) Nat. Genet. , vol.42 , pp. 840-850
    • Otto, E.A.1    Hurd, T.W.2    Airik, R.3    Chaki, M.4    Zhou, W.5
  • 113
    • 20144375842 scopus 로고    scopus 로고
    • Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
    • Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, et al. 2005. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat. Genet. 37:282-88
    • (2005) Nat. Genet. , vol.37 , pp. 282-288
    • Otto, E.A.1    Loeys, B.2    Khanna, H.3    Hellemans, J.4    Sudbrak, R.5
  • 114
    • 84861640948 scopus 로고    scopus 로고
    • CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
    • Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, et al. 2012. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat. Genet. 44:714-19
    • (2012) Nat. Genet. , vol.44 , pp. 714-719
    • Panizzi, J.R.1    Becker-Heck, A.2    Castleman, V.H.3    Al-Mutairi, D.A.4    Liu, Y.5
  • 115
    • 0034735526 scopus 로고    scopus 로고
    • Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella
    • Pazour GJ, Dickert BL, Vucica Y, Seeley ES, Rosenbaum JL, et al. 2000. Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella. J. Cell Biol. 151:709-18
    • (2000) J. Cell Biol. , vol.151 , pp. 709-718
    • Pazour, G.J.1    Dickert, B.L.2    Vucica, Y.3    Seeley, E.S.4    Rosenbaum, J.L.5
  • 116
    • 0037019017 scopus 로고    scopus 로고
    • Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease
    • Pazour GJ, San Agustin JT, Follit JA, Rosenbaum JL, Witman GB. 2002. Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease. Curr. Biol. 12:R378-80
    • (2002) Curr. Biol. , vol.12
    • Pazour, G.J.1    San Agustin, J.T.2    Follit, J.A.3    Rosenbaum, J.L.4    Witman, G.B.5
  • 117
    • 58149326846 scopus 로고    scopus 로고
    • Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling
    • Pedersen L, Rosenbaum J. 2008. Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling. Curr. Top. Dev. Biol. 85:23-61
    • (2008) Curr. Top. Dev. Biol. , vol.85 , pp. 23-61
    • Pedersen, L.1    Rosenbaum, J.2
  • 118
    • 0033365058 scopus 로고    scopus 로고
    • Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia
    • Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, et al. 1999. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am. J. Hum. Genet. 65:1508-19
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1508-1519
    • Pennarun, G.1    Escudier, E.2    Chapelin, C.3    Bridoux, A.M.4    Cacheux, V.5
  • 120
    • 0030955070 scopus 로고    scopus 로고
    • Transport of a novel complex in the cytoplasmic matrix of Chlamydomonas flagella
    • Piperno G, Mead K. 1997. Transport of a novel complex in the cytoplasmic matrix of Chlamydomonas flagella. Proc. Natl. Acad. Sci. USA 94:4457-62
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 4457-4462
    • Piperno, G.1    Mead, K.2
  • 121
    • 0026673055 scopus 로고
    • The inner dynein arms I2 interact with a "dynein regulatory complex" in Chlamydomonas flagella
    • Piperno G, Mead K, Shestak W. 1992. The inner dynein arms I2 interact with a "dynein regulatory complex" in Chlamydomonas flagella. J. Cell Biol. 118:1455-63
    • (1992) J. Cell Biol. , vol.118 , pp. 1455-1463
    • Piperno, G.1    Mead, K.2    Shestak, W.3
  • 122
  • 123
    • 33846605643 scopus 로고    scopus 로고
    • Intraflagellar transport protein 27 is a small G protein involved in cell-cycle control
    • Qin H, Wang Z, Diener D, Rosenbaum J. 2007. Intraflagellar transport protein 27 is a small G protein involved in cell-cycle control. Curr. Biol. 17:193-202
    • (2007) Curr. Biol. , vol.17 , pp. 193-202
    • Qin, H.1    Wang, Z.2    Diener, D.3    Rosenbaum, J.4
  • 125
    • 84856344876 scopus 로고    scopus 로고
    • Cilia and Hedgehog: When and how was their marriage solemnized?
    • Roy S. 2012. Cilia and Hedgehog: When and how was their marriage solemnized? Differentiation 83:S43-48
    • (2012) Differentiation , vol.83
    • Roy, S.1
  • 126
    • 79955808192 scopus 로고    scopus 로고
    • Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
    • Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, et al. 2011. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145:513-28
    • (2011) Cell , vol.145 , pp. 513-528
    • Sang, L.1    Miller, J.J.2    Corbit, K.C.3    Giles, R.H.4    Brauer, M.J.5
  • 127
    • 33947384151 scopus 로고    scopus 로고
    • Overview of structure and function of mammalian cilia
    • Satir P, Christensen ST. 2007. Overview of structure and function of mammalian cilia. Annu. Rev. Physiol. 69:377-400
    • (2007) Annu. Rev. Physiol. , vol.69 , pp. 377-400
    • Satir, P.1    Christensen, S.T.2
  • 128
    • 79960937678 scopus 로고    scopus 로고
    • The ciliopathies in neuronal development: A clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders
    • Sattar S, Gleeson JG. 2011. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev. Med. Child Neurol. 53:793-98
    • (2011) Dev. Med. Child Neurol. , vol.53 , pp. 793-798
    • Sattar, S.1    Gleeson, J.G.2
  • 131
    • 38349000827 scopus 로고    scopus 로고
    • Intraflagellar transport motors in cilia: Moving along the cell's antenna
    • Scholey JM. 2008. Intraflagellar transport motors in cilia: moving along the cell's antenna. J. Cell Biol. 180:23-29
    • (2008) J. Cell Biol. , vol.180 , pp. 23-29
    • Scholey, J.M.1
  • 132
    • 33646164168 scopus 로고    scopus 로고
    • Intraflagellar transport and cilium-based signaling
    • Scholey JM, Anderson KV. 2006. Intraflagellar transport and cilium-based signaling. Cell 125:439-42
    • (2006) Cell , vol.125 , pp. 439-442
    • Scholey, J.M.1    Anderson, K.V.2
  • 133
    • 76549121983 scopus 로고    scopus 로고
    • BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly
    • Seo S, Baye LM, Schulz NP, Beck JS, Zhang Q, et al. 2010. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc. Natl. Acad. Sci. USA 107(4):1488-93
    • (2010) Proc. Natl. Acad. Sci. USA , vol.107 , Issue.4 , pp. 1488-1493
    • Seo, S.1    Baye, L.M.2    Schulz, N.P.3    Beck, J.S.4    Zhang, Q.5
  • 135
    • 33746891890 scopus 로고    scopus 로고
    • The primary cilium as the cell's antenna: Signaling at a sensory organelle
    • Singla V, Reiter JF. 2006. The primary cilium as the cell's antenna: signaling at a sensory organelle. Science 313:629-33
    • (2006) Science , vol.313 , pp. 629-633
    • Singla, V.1    Reiter, J.F.2
  • 136
    • 44449096668 scopus 로고    scopus 로고
    • Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome
    • Spampinato MV, Kraas J, Maria BL, Walton ZJ, Rumboldt Z. 2008. Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome. Am. J. Med. Genet. A 146A:1389-94
    • (2008) Am. J. Med. Genet. A , vol.146 A , pp. 1389-1394
    • Spampinato, M.V.1    Kraas, J.2    Maria, B.L.3    Walton, Z.J.4    Rumboldt, Z.5
  • 138
    • 4544383179 scopus 로고    scopus 로고
    • A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney
    • Sun Z, Amsterdam A, Pazour GJ, Cole DG, Miller MS, Hopkins N. 2004. A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney. Development 131:4085-93
    • (2004) Development , vol.131 , pp. 4085-4093
    • Sun, Z.1    Amsterdam, A.2    Pazour, G.J.3    Cole, D.G.4    Miller, M.S.5    Hopkins, N.6
  • 139
    • 0035577271 scopus 로고    scopus 로고
    • Vhnf1, the MODY5 and familial GCKD-associated gene, regulates regional specification of the zebrafish gut, pronephros, and hindbrain
    • Sun Z, Hopkins N. 2001. vhnf1, the MODY5 and familial GCKD-associated gene, regulates regional specification of the zebrafish gut, pronephros, and hindbrain. Genes Dev. 15:3217-29
    • (2001) Genes Dev. , vol.15 , pp. 3217-3229
    • Sun, Z.1    Hopkins, N.2
  • 140
    • 67649405200 scopus 로고    scopus 로고
    • Analysis of genes and genome by the tol2-mediated gene and enhancer trap methods
    • Urasaki A, Kawakami K. 2009. Analysis of genes and genome by the tol2-mediated gene and enhancer trap methods. Methods Mol. Biol. 546:85-102
    • (2009) Methods Mol. Biol. , vol.546 , pp. 85-102
    • Urasaki, A.1    Kawakami, K.2
  • 141
    • 84875786305 scopus 로고    scopus 로고
    • ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice
    • Valdes-Sanchez L, De la Cerda B, Diaz-Corrales FJ, Massalini S, Chakarova CF, et al. 2013. ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice. Hum. Mol. Genet. 22:1507-15
    • (2013) Hum. Mol. Genet. , vol.22 , pp. 1507-1515
    • Valdes-Sanchez, L.1    De La Cerda, B.2    Diaz-Corrales, F.J.3    Massalini, S.4    Chakarova, C.F.5
  • 142
    • 0036509712 scopus 로고    scopus 로고
    • The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
    • Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, et al. 2002. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat. Genet. 30:259-69
    • (2002) Nat. Genet. , vol.30 , pp. 259-269
    • Ward, C.J.1    Hogan, M.C.2    Rossetti, S.3    Walker, D.4    Sneddon, T.5
  • 143
    • 10744220950 scopus 로고    scopus 로고
    • Cellular and subcellular localization of the ARPKD protein; Fibrocystin is expressed on primary cilia
    • Ward CJ, Yuan D, Masyuk TV, Wang X, Punyashthiti R, et al. 2003. Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. Hum. Mol. Genet. 12:2703-10
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2703-2710
    • Ward, C.J.1    Yuan, D.2    Masyuk, T.V.3    Wang, X.4    Punyashthiti, R.5
  • 144
    • 39049163023 scopus 로고    scopus 로고
    • Association between microdeletion and microduplication at 16p11.2 and autism
    • Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, et al. 2008. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358:667-75
    • (2008) N. Engl. J. Med. , vol.358 , pp. 667-675
    • Weiss, L.A.1    Shen, Y.2    Korn, J.M.3    Arking, D.E.4    Miller, D.T.5
  • 146
    • 58149333235 scopus 로고    scopus 로고
    • The primary cilium at the crossroads of mammalian hedgehog signaling
    • Wong SY, Reiter JF. 2008. The primary cilium at the crossroads of mammalian hedgehog signaling. Curr. Top. Dev. Biol. 85:225-60
    • (2008) Curr. Top. Dev. Biol. , vol.85 , pp. 225-260
    • Wong, S.Y.1    Reiter, J.F.2
  • 147
    • 77950496935 scopus 로고    scopus 로고
    • Polycystin-dependent fluid flow sensing targets histone deacetylase 5 to prevent the development of renal cysts
    • Xia S, Li X, Johnson T, Seidel C, Wallace DP, Li R. 2010. Polycystin-dependent fluid flow sensing targets histone deacetylase 5 to prevent the development of renal cysts. Development 137:1075-84
    • (2010) Development , vol.137 , pp. 1075-1084
    • Xia, S.1    Li, X.2    Johnson, T.3    Seidel, C.4    Wallace, D.P.5    Li, R.6
  • 148
    • 34249059614 scopus 로고    scopus 로고
    • Clinical investigations over 13 years to establish the nature of the cardiac defects in patients having abnormalities of lateralization
    • Yildirim SV, Tokel K, Varan B, Aslamaci S, Ekici E. 2007. Clinical investigations over 13 years to establish the nature of the cardiac defects in patients having abnormalities of lateralization. Cardiol. Young 17:275-82
    • (2007) Cardiol. Young , vol.17 , pp. 275-282
    • Yildirim, S.V.1    Tokel, K.2    Varan, B.3    Aslamaci, S.4    Ekici, E.5
  • 149
    • 37249010753 scopus 로고    scopus 로고
    • Dorsomorphin inhibits BMP signals required for embryogenesis and iron metabolism
    • Yu PB, Hong CC, Sachidanandan C, Babitt JL, Deng DY, et al. 2008. Dorsomorphin inhibits BMP signals required for embryogenesis and iron metabolism. Nat. Chem. Biol. 4:33-41
    • (2008) Nat. Chem. Biol. , vol.4 , pp. 33-41
    • Yu, P.B.1    Hong, C.C.2    Sachidanandan, C.3    Babitt, J.L.4    Deng, D.Y.5
  • 150
    • 65649147891 scopus 로고    scopus 로고
    • Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
    • Zaghloul NA, Katsanis N. 2009. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J. Clin. Investig. 119:428-37
    • (2009) J. Clin. Investig. , vol.119 , pp. 428-437
    • Zaghloul, N.A.1    Katsanis, N.2
  • 151
    • 84881115556 scopus 로고    scopus 로고
    • Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility
    • Zhao L, Yuan S, Cao Y, Kallakuri S, Li Y, et al. 2013. Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility. Proc. Natl. Acad. Sci. USA 110(31):12697-702
    • (2013) Proc. Natl. Acad. Sci. USA , vol.110 , Issue.31 , pp. 12697-12702
    • Zhao, L.1    Yuan, S.2    Cao, Y.3    Kallakuri, S.4    Li, Y.5
  • 152
    • 84870280744 scopus 로고    scopus 로고
    • A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
    • Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, et al. 2012. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J. Med. Genet. 49:660-68
    • (2012) J. Med. Genet. , vol.49 , pp. 660-668
    • Zufferey, F.1    Sherr, E.H.2    Beckmann, N.D.3    Hanson, E.4    Maillard, A.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.