메뉴 건너뛰기




Volumn 85, Issue 8, 2009, Pages 324-336

Various facets of vertebrate cilia: Motility, signaling, and role in adult neurogenesis

Author keywords

Cilia; Ciliopathy; Morphogenesis

Indexed keywords

EUKARYOTA; VERTEBRATA;

EID: 74949092032     PISSN: 03862208     EISSN: 13492896     Source Type: Journal    
DOI: 10.2183/pjab.85.324     Document Type: Review
Times cited : (13)

References (74)
  • 1
  • 2
    • 5744244393 scopus 로고    scopus 로고
    • Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation
    • Ibanez-Tallon, I., Pagenstecher, A., Fliegauf, M., Olbrich, H., Kispert, A., Ketelsen, U.P. et al. (2004) Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation. Hum. Mol. Genet. 13, 2133-2141.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 2133-2141
    • Ibanez-Tallon, I.1    Pagenstecher, A.2    Fliegauf, M.3    Olbrich, H.4    Kispert, A.5    Ketelsen, U.P.6
  • 3
    • 0034677929 scopus 로고    scopus 로고
    • The dynein microtubule motor
    • King, S.M. (2000) The dynein microtubule motor. Biochim. Biophys. Acta 1496, 60-75.
    • (2000) Biochim. Biophys. Acta , vol.1496 , pp. 60-75
    • King, S.M.1
  • 4
    • 20944436797 scopus 로고    scopus 로고
    • The ciliary rootlet maintains long-term stability of sensory cilia
    • Yang, J., Gao, J., Adamian, M., Wen, X.H., Pawlyk, B., Zhang, L. et al. (2005) The ciliary rootlet maintains long-term stability of sensory cilia. Mol. Cell Biol. 25, 4129-4137.
    • (2005) Mol. Cell Biol. , vol.25 , pp. 4129-4137
    • Yang, J.1    Gao, J.2    Adamian, M.3    Wen, X.H.4    Pawlyk, B.5    Zhang, L.6
  • 5
    • 18744406718 scopus 로고    scopus 로고
    • FGF-induced vesicular release of Sonic hedgehog and retinoic acid in leftward nodal flow is critical for left-right determination
    • Tanaka, Y., Okada, Y. and Hirokawa, N. (2005) FGF-induced vesicular release of Sonic hedgehog and retinoic acid in leftward nodal flow is critical for left-right determination. Nature 435, 172-177.
    • (2005) Nature , vol.435 , pp. 172-177
    • Tanaka, Y.1    Okada, Y.2    Hirokawa, N.3
  • 7
    • 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, A.G., Olale, F., Haycraft, C.J., Yoder, B.K., Schier, A.F. and Drummond, I.A. (2005) Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis. Development 132, 1907-1921.
    • (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
  • 8
    • 63049116544 scopus 로고    scopus 로고
    • The vertebrate primary cilium in development, homeostasis, and disease
    • Gerdes, J.M., Davis, E.E. and Katsanis, N. (2009) The vertebrate primary cilium in development, homeostasis, and disease. Cell 137, 32-45.
    • (2009) Cell , vol.137 , pp. 32-45
    • Gerdes, J.M.1    Davis, E.E.2    Katsanis, N.3
  • 9
    • 0037317302 scopus 로고    scopus 로고
    • Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
    • Nauli, S.M., Alenghat, F.J., Luo, Y., Williams, E., Vassilev, P., Li, X. et al. (2003) Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat. Genet. 33, 129-137.
    • (2003) Nat. Genet. , vol.33 , pp. 129-137
    • Nauli, S.M.1    Alenghat, F.J.2    Luo, Y.3    Williams, E.4    Vassilev, P.5    Li, X.6
  • 10
    • 0035498717 scopus 로고    scopus 로고
    • Bending the MDCK cell primary cilium increases intracellular calcium
    • Praetorius, H.A. and Spring, K.R. (2001) Bending the MDCK cell primary cilium increases intracellular calcium. J. Membr. Biol. 184, 71-79.
    • (2001) J. Membr. Biol. , vol.184 , pp. 71-79
    • Praetorius, H.A.1    Spring, K.R.2
  • 11
    • 0242581681 scopus 로고    scopus 로고
    • Hedgehog signalling in the mouse requires intraflagellar transport proteins
    • Huangfu, D., Liu, A., Rakeman, A.S., Murcia, N.S., Niswander, L. and Anderson, K.V. (2003) Hedgehog signalling in the mouse requires intraflagellar transport proteins. Nature 426, 83-87.
    • (2003) Nature , vol.426 , pp. 83-87
    • Huangfu, D.1    Liu, A.2    Rakeman, A.S.3    Murcia, N.S.4    Niswander, L.5    Anderson, K.V.6
  • 12
    • 27744484694 scopus 로고    scopus 로고
    • Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli
    • May, S.R., Ashique, A.M., Karlen, M., Wang, B., Shen, Y., Zarbalis, K. et al. (2005) Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli. Dev. Biol. 287, 378-389.
    • (2005) Dev. Biol. , vol.287 , pp. 378-389
    • May, S.R.1    Ashique, A.M.2    Karlen, M.3    Wang, B.4    Shen, Y.5    Zarbalis, K.6
  • 13
    • 40849142136 scopus 로고    scopus 로고
    • Human embryonic stem cells in culture possess primary cilia with hedgehog signaling machinery
    • Kiprilov, E.N., Awan, A., Desprat, R., Velho, M., Clement, C.A., Byskov, A.G. et al. (2008) Human embryonic stem cells in culture possess primary cilia with hedgehog signaling machinery. J. Cell Biol. 180, 897-904.
    • (2008) J. Cell Biol. , vol.180 , pp. 897-904
    • Kiprilov, E.N.1    Awan, A.2    Desprat, R.3    Velho, M.4    Clement, C.A.5    Byskov, A.G.6
  • 14
    • 20944435539 scopus 로고    scopus 로고
    • Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways
    • Simons, M., Gloy, J., Ganner, A., Bullerkotte, A., Bashkurov, M., Kronig, C. et al. (2005) Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. Nat. Genet. 37, 537-543.
    • (2005) Nat. Genet. , vol.37 , pp. 537-543
    • Simons, M.1    Gloy, J.2    Ganner, A.3    Bullerkotte, A.4    Bashkurov, M.5    Kronig, C.6
  • 15
    • 25144504913 scopus 로고    scopus 로고
    • Regulation of polarized extension and planar cell polarity in the cochlea by the vertebrate PCP pathway
    • Wang, J., Mark, S., Zhang, X., Qian, D., Yoo, S.J., Radde-Gallwitz, K. et al. (2005) Regulation of polarized extension and planar cell polarity in the cochlea by the vertebrate PCP pathway. Nat. Genet. 37, 980-985.
    • (2005) Nat. Genet. , vol.37 , pp. 980-985
    • Wang, J.1    Mark, S.2    Zhang, X.3    Qian, D.4    Yoo, S.J.5    Radde-Gallwitz, K.6
  • 16
    • 0029050218 scopus 로고
    • The kinocilium of auditory hair cells and evidence for its morphogenetic role during the regeneration of stereocilia and cuticular plates
    • Sobkowicz, H.M., Slapnick, S.M. and August, B.K. (1995) The kinocilium of auditory hair cells and evidence for its morphogenetic role during the regeneration of stereocilia and cuticular plates. J. Neurocytol. 24, 633-653.
    • (1995) J. Neurocytol. , vol.24 , pp. 633-653
    • Sobkowicz, H.M.1    Slapnick, S.M.2    August, B.K.3
  • 17
    • 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. and 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- 3358.
    • (2006) Dev. Dyn. , vol.235 , pp. 3348-3358
    • Feistel, K.1    Blum, M.2
  • 18
    • 2442631432 scopus 로고
    • Genetic disorders of cilia
    • (ed. Schweiger, H.G.), Springer-Verlag, Berlin
    • Afzelius, B.A. (1980) Genetic disorders of cilia. In International Cell Biology 1980-1981 (ed. Schweiger, H.G.), Springer-Verlag, Berlin, p. 8.
    • (1980) International Cell Biology 1980-1981 , pp. 8
    • Afzelius, B.A.1
  • 19
    • 7944223873 scopus 로고    scopus 로고
    • Cilia-related diseases
    • Afzelius, B.A. (2004) Cilia-related diseases. J. Pathol. 204, 470-477.
    • (2004) J. Pathol. , vol.204 , pp. 470-477
    • Afzelius, B.A.1
  • 23
    • 0037087624 scopus 로고    scopus 로고
    • Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus
    • Ibanez-Tallon, I., Gorokhova, S. and Heintz, N. (2002) Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. Hum. Mol. Genet. 11, 715-721.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 715-721
    • Ibanez-Tallon, I.1    Gorokhova, S.2    Heintz, N.3
  • 24
    • 0027772235 scopus 로고
    • Immotile cilia syndrome associated with hydrocephalus and precocious puberty: a case report
    • Picco, P., Leveratto, L., Cama, A., Vigliarolo, M.A., Levato, G.L., Gattorno, M. et al. (1993) Immotile cilia syndrome associated with hydrocephalus and precocious puberty: a case report. Eur. J. Pediatr. Surg. 3 (Suppl. 1), 20-21.
    • (1993) Eur. J. Pediatr. Surg. , vol.3 , Issue.SUPPL. 1 , pp. 20-21
    • Picco, P.1    Leveratto, L.2    Cama, A.3    Vigliarolo, M.A.4    Levato, G.L.5    Gattorno, M.6
  • 25
    • 33646204913 scopus 로고    scopus 로고
    • Nodal flow and the generation of left-right asymmetry
    • Hirokawa, N., Tanaka, Y., Okada, Y. and Takeda, S. (2006) Nodal flow and the generation of left-right asymmetry. Cell 125, 33-45.
    • (2006) Cell , vol.125 , pp. 33-45
    • Hirokawa, N.1    Tanaka, Y.2    Okada, Y.3    Takeda, S.4
  • 26
    • 0037019287 scopus 로고    scopus 로고
    • Determination of left-right patterning of the mouse embryo by artificial nodal flow
    • Nonaka, S., Shiratori, H., Saijoh, Y. and Hamada, H. (2002) Determination of left-right patterning of the mouse embryo by artificial nodal flow. Nature 418, 96-99.
    • (2002) Nature , vol.418 , pp. 96-99
    • Nonaka, S.1    Shiratori, H.2    Saijoh, Y.3    Hamada, H.4
  • 27
    • 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., Kanai, Y. 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, 829-837.
    • (1998) Cell , vol.95 , pp. 829-837
    • Nonaka, S.1    Tanaka, Y.2    Okada, Y.3    Takeda, S.4    Harada, A.5    Kanai, Y.6
  • 29
    • 19344367605 scopus 로고    scopus 로고
    • Mechanism of nodal flow: a conserved symmetry breaking event in left-right axis determination
    • Okada, Y., Takeda, S., Tanaka, Y., Belmonte, J.C. and Hirokawa, N. (2005) Mechanism of nodal flow: a conserved symmetry breaking event in left-right axis determination. Cell 121, 633-644.
    • (2005) Cell , vol.121 , pp. 633-644
    • Okada, Y.1    Takeda, S.2    Tanaka, Y.3    Belmonte, J.C.4    Hirokawa, N.5
  • 30
    • 0017162819 scopus 로고
    • A human syndrome caused by immotile cilia
    • Afzelius, B.A. (1976) A human syndrome caused by immotile cilia. Science 193, 317-319.
    • (1976) Science , vol.193 , pp. 317-319
    • Afzelius, B.A.1
  • 31
    • 33846396811 scopus 로고    scopus 로고
    • Frizzled/PCP signalling: a conserved mechanism regulating cell polarity and directed motility
    • Seifert, J.R. and Mlodzik, M. (2007) Frizzled/PCP signalling: a conserved mechanism regulating cell polarity and directed motility. Nat. Rev. Genet. 8, 126-138.
    • (2007) Nat. Rev. Genet. , vol.8 , pp. 126-138
    • Seifert, J.R.1    Mlodzik, M.2
  • 32
    • 33646941288 scopus 로고    scopus 로고
    • Asymmetric localization of Vangl2 and Fz3 indicate novel mechanisms for planar cell polarity in mammals
    • Montcouquiol, M., Sans, N., Huss, D., Kach, J., Dickman, J.D., Forge, A. et al. (2006) Asymmetric localization of Vangl2 and Fz3 indicate novel mechanisms for planar cell polarity in mammals. J. Neurosci. 26, 5265-5275.
    • (2006) J. Neurosci. , vol.26 , pp. 5265-5275
    • Montcouquiol, M.1    Sans, N.2    Huss, D.3    Kach, J.4    Dickman, J.D.5    Forge, A.6
  • 33
    • 44649101853 scopus 로고    scopus 로고
    • Asymmetric homotypic interactions of the atypical cadherin flamingo mediate intercellular polarity signaling
    • Chen, W.S., Antic, D., Matis, M., Logan, C.Y., Povelones, M., Anderson, G.A. et al. (2008) Asymmetric homotypic interactions of the atypical cadherin flamingo mediate intercellular polarity signaling. Cell 133, 1093-1105.
    • (2008) Cell , vol.133 , pp. 1093-1105
    • Chen, W.S.1    Antic, D.2    Matis, M.3    Logan, C.Y.4    Povelones, M.5    Anderson, G.A.6
  • 34
    • 33749018196 scopus 로고    scopus 로고
    • Planar cell polarity, ciliogenesis and neural tube defects
    • Wallingford, J.B. (2006) Planar cell polarity, ciliogenesis and neural tube defects. Hum. Mol. Genet. 15 (2), R227-R234.
    • (2006) Hum. Mol. Genet. , vol.15 , Issue.2
    • Wallingford, J.B.1
  • 35
    • 0025770285 scopus 로고
    • Auditory epithelial migration. III. Development of the stratified squamous epithelium of the tympanic membrane and external canal in the mouse
    • Michaels, L. and Soucek, S. (1991) Auditory epithelial migration. III. Development of the stratified squamous epithelium of the tympanic membrane and external canal in the mouse. Am. J. Anat. 191, 280-292.
    • (1991) Am. J. Anat. , vol.191 , pp. 280-292
    • Michaels, L.1    Soucek, S.2
  • 36
    • 30544439006 scopus 로고    scopus 로고
    • Planar cell polarity signalling couples cell division and morphogenesis during neurulation
    • Ciruna, B., Jenny, A., Lee, D., Mlodzik, M. and Schier, A.F. (2006) Planar cell polarity signalling couples cell division and morphogenesis during neurulation. Nature 439, 220-224.
    • (2006) Nature , vol.439 , pp. 220-224
    • Ciruna, B.1    Jenny, A.2    Lee, D.3    Mlodzik, M.4    Schier, A.F.5
  • 37
    • 37549052499 scopus 로고    scopus 로고
    • Ciliary proteins link basal body polarization to planar cell polarity regulation
    • Jones, C., Roper, V.C., Foucher, I., Qian, D., Banizs, B., Petit, C. et al. (2008) Ciliary proteins link basal body polarization to planar cell polarity regulation. Nat. Genet. 40, 69-77.
    • (2008) Nat. Genet. , vol.40 , pp. 69-77
    • Jones, C.1    Roper, V.C.2    Foucher, I.3    Qian, D.4    Banizs, B.5    Petit, C.6
  • 38
    • 27144460671 scopus 로고    scopus 로고
    • Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
    • Ross, A.J., May-Simera, H., Eichers, E.R., Kai, M., Hill, J., Jagger, D.J. et al. (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat. Genet. 37, 1135-1140.
    • (2005) Nat. Genet. , vol.37 , pp. 1135-1140
    • Ross, A.J.1    May-Simera, H.2    Eichers, E.R.3    Kai, M.4    Hill, J.5    Jagger, D.J.6
  • 39
    • 4744352094 scopus 로고    scopus 로고
    • Van Goghlike2 (Strabismus) and its role in planar cell polarity and convergent extension in vertebrates
    • Torban, E., Kor, C. and Gros, P. (2004) Van Goghlike2 (Strabismus) and its role in planar cell polarity and convergent extension in vertebrates. Trends Genet. 20, 570-577.
    • (2004) Trends Genet , vol.20 , pp. 570-577
    • Torban, E.1    Kor, C.2    Gros, P.3
  • 40
    • 55549083477 scopus 로고    scopus 로고
    • Planar polarization in embryonic epidermis orchestrates global asymmetric morphogenesis of hair follicles
    • Devenport, D. and Fuchs, E. (2008) Planar polarization in embryonic epidermis orchestrates global asymmetric morphogenesis of hair follicles. Nat. Cell Biol. 10, 1257-1268.
    • (2008) Nat. Cell Biol. , vol.10 , pp. 1257-1268
    • Devenport, D.1    Fuchs, E.2
  • 41
  • 42
    • 46249125254 scopus 로고    scopus 로고
    • Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells
    • Park, T.J., Mitchell, B.J., Abitua, P.B., Kintner, C. and Wallingford, J.B. (2008) Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells. Nat. Genet. 40, 871-879.
    • (2008) Nat. Genet. , vol.40 , pp. 871-879
    • Park, T.J.1    Mitchell, B.J.2    Abitua, P.B.3    Kintner, C.4    Wallingford, J.B.5
  • 43
    • 39149087667 scopus 로고    scopus 로고
    • Cilia orientation and the fluid mechanics of development
    • Marshall, W.F. and Kintner, C. (2008) Cilia orientation and the fluid mechanics of development. Curr. Opin. Cell Biol. 20, 48-52.
    • (2008) Curr. Opin. Cell Biol. , vol.20 , pp. 48-52
    • Marshall, W.F.1    Kintner, C.2
  • 44
    • 34247555530 scopus 로고    scopus 로고
    • A positive feedback mechanism governs the polarity and motion of motile cilia
    • Mitchell, B., Jacobs, R., Li, J., Chien, S. and Kintner, C. (2007) A positive feedback mechanism governs the polarity and motion of motile cilia. Nature 447, 97-101.
    • (2007) Nature , vol.447 , pp. 97-101
    • Mitchell, B.1    Jacobs, R.2    Li, J.3    Chien, S.4    Kintner, C.5
  • 45
    • 65549170297 scopus 로고    scopus 로고
    • Fused has evolved divergent roles in vertebrate Hedgehog signalling and motile ciliogenesis
    • Wilson, C.W., Nguyen, C.T., Chen, M.H., Yang, J.H., Gacayan, R., Huang, J. et al. (2009) Fused has evolved divergent roles in vertebrate Hedgehog signalling and motile ciliogenesis. Nature 459, 98-102.
    • (2009) Nature , vol.459 , pp. 98-102
    • Wilson, C.W.1    Nguyen, C.T.2    Chen, M.H.3    Yang, J.H.4    Gacayan, R.5    Huang, J.6
  • 46
    • 0013784893 scopus 로고
    • Autoradiographic and histological evidence of postnatal hippocampal neurogenesis in rats
    • Altman, J. and Das, G.D. (1965) Autoradiographic and histological evidence of postnatal hippocampal neurogenesis in rats. J. Comp. Neurol. 124, 319-335.
    • (1965) J. Comp. Neurol. , vol.124 , pp. 319-335
    • Altman, J.1    Das, G.D.2
  • 47
    • 58549112780 scopus 로고    scopus 로고
    • Identity crisis for adult periventricular neural stem cells: subventricular zone astrocytes, ependymal cells or both?
    • Chojnacki, A.K., Mak, G.K. and Weiss, S. (2009) Identity crisis for adult periventricular neural stem cells: subventricular zone astrocytes, ependymal cells or both? Nat. Rev. Neurosci. 10, 153-163.
    • (2009) Nat. Rev. Neurosci. , vol.10 , pp. 153-163
    • Chojnacki, A.K.1    Mak, G.K.2    Weiss, S.3
  • 48
    • 33846524307 scopus 로고    scopus 로고
    • Neuronal migration in the adult brain: are we there yet?
    • Ghashghaei, H.T., Lai, C. and Anton, E.S. (2007) Neuronal migration in the adult brain: are we there yet? Nat. Rev. Neurosci. 8, 141-151.
    • (2007) Nat. Rev. Neurosci. , vol.8 , pp. 141-151
    • Ghashghaei, H.T.1    Lai, C.2    Anton, E.S.3
  • 51
    • 60749099023 scopus 로고    scopus 로고
    • Forebrain ependymal cells are Notch-dependent and generate neuroblasts and astrocytes after stroke
    • Carlen, M., Meletis, K., Goritz, C., Darsalia, V., Evergren, E., Tanigaki, K. et al. (2009) Forebrain ependymal cells are Notch-dependent and generate neuroblasts and astrocytes after stroke. Nat. Neurosci. 12, 259-267.
    • (2009) Nat. Neurosci. , vol.12 , pp. 259-267
    • Carlen, M.1    Meletis, K.2    Goritz, C.3    Darsalia, V.4    Evergren, E.5    Tanigaki, K.6
  • 52
    • 70449646115 scopus 로고    scopus 로고
    • The dynamic cilium in human diseases
    • D'Angelo, A. and Franco, B. (2009) The dynamic cilium in human diseases. Pathogenetics 2, 3.
    • (2009) Pathogenetics , vol.2 , pp. 3
    • D'Angelo, A.1    Franco, B.2
  • 53
    • 38349018369 scopus 로고    scopus 로고
    • The cell biological basis of ciliary disease
    • Marshall, W.F. (2008) The cell biological basis of ciliary disease. J. Cell Biol. 180, 17-21.
    • (2008) J. Cell Biol. , vol.180 , pp. 17-21
    • Marshall, W.F.1
  • 54
    • 0036578890 scopus 로고    scopus 로고
    • Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome
    • Collin, G.B., Marshall, J.D., Ikeda, A., So, W.V., Russell-Eggitt, I., Maffei, P. et al. (2002) Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat. Genet. 31, 74-78.
    • (2002) Nat. Genet. , vol.31 , pp. 74-78
    • Collin, G.B.1    Marshall, J.D.2    Ikeda, A.3    So, W.V.4    Russell-Eggitt, I.5    Maffei, P.6
  • 55
    • 18544391142 scopus 로고    scopus 로고
    • Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome
    • Hearn, T., Renforth, G.L., Spalluto, C., Hanley, N.A., Piper, K., Brickwood, S. et al. (2002) Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat. Genet. 31, 79-83.
    • (2002) Nat. Genet. , vol.31 , pp. 79-83
    • Hearn, T.1    Renforth, G.L.2    Spalluto, C.3    Hanley, N.A.4    Piper, K.5    Brickwood, S.6
  • 56
    • 35348816684 scopus 로고    scopus 로고
    • Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome
    • Helou, J., Otto, E.A., Attanasio, M., Allen, S.J., Parisi, M.A., Glass, I. et al. (2007) Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. J. Med. Genet. 44, 657-663.
    • (2007) J. Med. Genet. , vol.44 , pp. 657-663
    • Helou, J.1    Otto, E.A.2    Attanasio, M.3    Allen, S.J.4    Parisi, M.A.5    Glass, I.6
  • 57
    • 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, E.A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S. 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, 282-288.
    • (2005) Nat. Genet. , vol.37 , pp. 282-288
    • Otto, E.A.1    Loeys, B.2    Khanna, H.3    Hellemans, J.4    Sudbrak, R.5    Fan, S.6
  • 58
    • 0036842902 scopus 로고    scopus 로고
    • A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution
    • Otto, E., Hoefele, J., Ruf, R., Mueller, A.M., Hiller, K.S., Wolf, M.T. et al. (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am. J. Hum. Genet. 71, 1161-1167.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1161-1167
    • Otto, E.1    Hoefele, J.2    Ruf, R.3    Mueller, A.M.4    Hiller, K.S.5    Wolf, M.T.6
  • 59
    • 0031742106 scopus 로고    scopus 로고
    • Renalretinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus
    • Caridi, G., Murer, L., Bellantuono, R., Sorino, P., Caringella, D.A., Gusmano, R. et al. (1998) Renalretinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. Am. J. Kidney Dis. 32, 1059-1062.
    • (1998) Am. J. Kidney Dis. , vol.32 , pp. 1059-1062
    • Caridi, G.1    Murer, L.2    Bellantuono, R.3    Sorino, P.4    Caringella, D.A.5    Gusmano, R.6
  • 60
    • 0036509712 scopus 로고    scopus 로고
    • The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
    • Ward, C.J., Hogan, M.C., Rossetti, S., Walker, D., Sneddon, T., Wang, X. et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat. Genet. 30, 259-269.
    • (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    Wang, X.6
  • 61
    • 0033365058 scopus 로고    scopus 로고
    • Loss-offunction mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia
    • Pennarun, G., Escudier, E., Chapelin, C., Bridoux, A.M., Cacheux, V., Roger, G. et al. (1999) Loss-offunction mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am. J. Hum. Genet. 65, 1508-1519.
    • (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    Roger, G.6
  • 62
    • 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., Sasmaz, G. et al. (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat. Genet. 30, 143-144.
    • (2002) Nat. Genet. , vol.30 , pp. 143-144
    • Olbrich, H.1    Haffner, K.2    Kispert, A.3    Volkel, A.4    Volz, A.5    Sasmaz, G.6
  • 63
    • 0036699538 scopus 로고    scopus 로고
    • Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
    • Mykytyn, K., Nishimura, D.Y., Searby, C.C., Shastri, M., Yen, H.J., Beck, J.S. et al. (2002) Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat. Genet. 31, 435-438.
    • (2002) Nat. Genet. , vol.31 , pp. 435-438
    • Mykytyn, K.1    Nishimura, D.Y.2    Searby, C.C.3    Shastri, M.4    Yen, H.J.5    Beck, J.S.6
  • 64
    • 0037371508 scopus 로고    scopus 로고
    • Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2
    • Badano, J.L., Ansley, S.J., Leitch, C.C., Lewis, R.A., Lupski, J.R. and Katsanis, N. (2003) Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am. J. Hum. Genet. 72, 650-658.
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 650-658
    • Badano, J.L.1    Ansley, S.J.2    Leitch, C.C.3    Lewis, R.A.4    Lupski, J.R.5    Katsanis, N.6
  • 65
    • 0034967274 scopus 로고    scopus 로고
    • Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
    • Mykytyn, K., Braun, T., Carmi, R., Haider, N.B., Searby, C.C., Shastri, M. et al. (2001) Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat. Genet. 28, 188-191.
    • (2001) Nat. Genet. , vol.28 , pp. 188-191
    • Mykytyn, K.1    Braun, T.2    Carmi, R.3    Haider, N.B.4    Searby, C.C.5    Shastri, M.6
  • 66
    • 33646562887 scopus 로고    scopus 로고
    • Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
    • Chiang, A.P., Beck, J.S., Yen, H.J., Tayeh, M.K., Scheetz, T.E., Swiderski, R.E. et al. (2006) Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc. Natl. Acad. Sci. USA 103, 6287-6292.
    • (2006) Proc. Natl. Acad. Sci. USA , vol.103 , pp. 6287-6292
    • Chiang, A.P.1    Beck, J.S.2    Yen, H.J.3    Tayeh, M.K.4    Scheetz, T.E.5    Swiderski, R.E.6
  • 67
    • 28144460266 scopus 로고    scopus 로고
    • Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene
    • Nishimura, D.Y., Swiderski, R.E., Searby, C.C., Berg, E.M., Ferguson, A.L., Hennekam, R. et al. (2005) Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am. J. Hum. Genet. 77, 1021-1033.
    • (2005) Am. J. Hum. Genet. , vol.77 , pp. 1021-1033
    • Nishimura, D.Y.1    Swiderski, R.E.2    Searby, C.C.3    Berg, E.M.4    Ferguson, A.L.5    Hennekam, R.6
  • 68
    • 33845995129 scopus 로고    scopus 로고
    • Identi-fication of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
    • Stoetzel, C., Muller, J., Laurier, V., Davis, E.E., Zaghloul, N.A., Vicaire, S. et al. (2007) Identi-fication of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am. J. Hum. Genet. 80, 1-11.
    • (2007) Am. J. Hum. Genet. , vol.80 , pp. 1-11
    • Stoetzel, C.1    Muller, J.2    Laurier, V.3    Davis, E.E.4    Zaghloul, N.A.5    Vicaire, S.6
  • 69
    • 31744435454 scopus 로고    scopus 로고
    • MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome
    • Kyttala, M., Tallila, J., Salonen, R., Kopra, O., Kohlschmidt, N., Paavola-Sakki, P. et al. (2006) MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat. Genet. 38, 155-157.
    • (2006) Nat. Genet. , vol.38 , pp. 155-157
    • Kyttala, M.1    Tallila, J.2    Salonen, R.3    Kopra, O.4    Kohlschmidt, N.5    Paavola-Sakki, P.6
  • 70
    • 31744441248 scopus 로고    scopus 로고
    • The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
    • Smith, U.M., Consugar, M., Tee, L.J., McKee, B.M., Maina, E.N., Whelan, S. et al. (2006) The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat. Genet. 38, 191-196.
    • (2006) Nat. Genet. , vol.38 , pp. 191-196
    • Smith, U.M.1    Consugar, M.2    Tee, L.J.3    McKee, B.M.4    Maina, E.N.5    Whelan, S.6
  • 72
    • 15844378213 scopus 로고    scopus 로고
    • A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
    • Meindl, A., Dry, K., Herrmann, K., Manson, F., Ciccodicola, A., Edgar, A. et al. (1996) A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat. Genet. 13, 35-42.
    • (1996) Nat. Genet. , vol.13 , pp. 35-42
    • Meindl, A.1    Dry, K.2    Herrmann, K.3    Manson, F.4    Ciccodicola, A.5    Edgar, A.6
  • 73
    • 0036678117 scopus 로고    scopus 로고
    • Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
    • Bartoloni, L., Blouin, J.L., Pan, Y., Gehrig, C., Maiti, A.K., Scamuffa, N. et al. (2002) Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc. Natl. Acad. Sci. USA 99, 10282-10286.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 10282-10286
    • Bartoloni, L.1    Blouin, J.L.2    Pan, Y.3    Gehrig, C.4    Maiti, A.K.5    Scamuffa, N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.