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Volumn 35, Issue 3, 2014, Pages 340-346

Emerging ciliopathies: Are respiratory cilia compromised in Usher syndrome?

Author keywords

[No Author keywords available]

Indexed keywords

SACCHARIN;

EID: 84899906713     PISSN: 01960709     EISSN: 1532818X     Source Type: Journal    
DOI: 10.1016/j.amjoto.2014.01.010     Document Type: Article
Times cited : (12)

References (35)
  • 1
    • 76649090933 scopus 로고    scopus 로고
    • Sensory reception is an attribute of both primary cilia and motile cilia
    • R.A. Bloodgood Sensory reception is an attribute of both primary cilia and motile cilia J Cell Sci 123 2010 505 509
    • (2010) J Cell Sci , vol.123 , pp. 505-509
    • Bloodgood, R.A.1
  • 2
    • 70449646115 scopus 로고    scopus 로고
    • The dynamic cilium in human disease
    • A. D'Angelo, and B. Franco The dynamic cilium in human disease Pathogenetics 2 2009 3 18
    • (2009) Pathogenetics , vol.2 , pp. 3-18
    • D'Angelo, A.1    Franco, B.2
  • 3
    • 83455187075 scopus 로고    scopus 로고
    • Primary ciliary diskynesia in children: A review for pediatricians, allergists and pediatric pulmonologists
    • P.C. Stillwell, E.P. Wartchow, and S.D. Sagel Primary ciliary diskynesia in children: a review for pediatricians, allergists and pediatric pulmonologists Pediatr Allergy Immunol Pulmonol 24 2011 191 196
    • (2011) Pediatr Allergy Immunol Pulmonol , vol.24 , pp. 191-196
    • Stillwell, P.C.1    Wartchow, E.P.2    Sagel, S.D.3
  • 4
    • 0021350037 scopus 로고
    • Nasal ciliary ultrastructure and function in patients with primary ciliary dyskinesia compared with various respiratory diseases
    • C.M. Rossman, R.M.K.W. Lee, and J.B. Forrest et al. Nasal ciliary ultrastructure and function in patients with primary ciliary dyskinesia compared with various respiratory diseases Am Rev Respir Dis 129 1984 161 167
    • (1984) Am Rev Respir Dis , vol.129 , pp. 161-167
    • Rossman, C.M.1    Lee, R.M.K.W.2    Forrest, J.B.3
  • 5
    • 84858840334 scopus 로고    scopus 로고
    • Ciliopathies: The central role of cilia in a spectrum of pediatric disorders
    • T.W. Ferkol, and M.W. Leigh Ciliopathies: the central role of cilia in a spectrum of pediatric disorders J Pediatr 160 2012 366 371
    • (2012) J Pediatr , vol.160 , pp. 366-371
    • Ferkol, T.W.1    Leigh, M.W.2
  • 6
    • 35448961665 scopus 로고    scopus 로고
    • When cilia go bad: Cilia defects and ciliopathies
    • M. Fliegauf, T. Benzing, and H. Omran When cilia go bad: cilia defects and ciliopathies Nature 8 2007 880 894
    • (2007) Nature , vol.8 , pp. 880-894
    • Fliegauf, M.1    Benzing, T.2    Omran, H.3
  • 7
    • 83555176400 scopus 로고    scopus 로고
    • The mechanics of the primary cilium: An intricate structure with complex function
    • D.A. Hoey, M.E. Downs, and C.R. Jacobs The mechanics of the primary cilium: an intricate structure with complex function J Biomech 45 2012 17 26
    • (2012) J Biomech , vol.45 , pp. 17-26
    • Hoey, D.A.1    Downs, M.E.2    Jacobs, C.R.3
  • 9
    • 0029585763 scopus 로고
    • The Chlamydomonas kinesin-like protein FLA10 is involved in motility associated with the flagellar membrane
    • K.G. Kozminski, P.L. Beech, and J.L. Rosenbaum The Chlamydomonas kinesin-like protein FLA10 is involved in motility associated with the flagellar membrane J Cell Biol 131 1995 1517 1527
    • (1995) J Cell Biol , vol.131 , pp. 1517-1527
    • Kozminski, K.G.1    Beech, P.L.2    Rosenbaum, J.L.3
  • 10
    • 33751526052 scopus 로고    scopus 로고
    • The roles of cilia in developmental disorders and disease
    • B.W. Bisgrove, and H.J. Yost The roles of cilia in developmental disorders and disease Development 133 2006 4131 4143
    • (2006) Development , vol.133 , pp. 4131-4143
    • Bisgrove, B.W.1    Yost, H.J.2
  • 11
    • 24944555725 scopus 로고    scopus 로고
    • Intraflagellar transport is required for the vectorial movement of TRPV channels in the ciliary membrane
    • H. Qin, D.T. Burnette, and Y.K. Bae et al. Intraflagellar transport is required for the vectorial movement of TRPV channels in the ciliary membrane Curr Biol 15 2005 1695 1699
    • (2005) Curr Biol , vol.15 , pp. 1695-1699
    • Qin, H.1    Burnette, D.T.2    Bae, Y.K.3
  • 14
    • 79960011547 scopus 로고    scopus 로고
    • Molecular epidemiology of Usher syndrome in Italy
    • D. Vozzi, A. Aaspollu, and E. Athanasakis et al. Molecular epidemiology of Usher syndrome in Italy Mol Vis 17 2011 1662 1668
    • (2011) Mol Vis , vol.17 , pp. 1662-1668
    • Vozzi, D.1    Aaspollu, A.2    Athanasakis, E.3
  • 15
    • 4344619862 scopus 로고    scopus 로고
    • Genetic heterogeneity in Usher syndrome
    • B.J.B. Keats, and S. Savas Genetic heterogeneity in Usher syndrome Am J Med Genet 130A 2004 13 16
    • (2004) Am J Med Genet , vol.130 A , pp. 13-16
    • Keats, B.J.B.1    Savas, S.2
  • 16
    • 33749346050 scopus 로고    scopus 로고
    • Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance for cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%
    • A.F. Roux, V. Faugère, and S. Le Guédard et al. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance for cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90% J Med Genet 43 2006 763 768
    • (2006) J Med Genet , vol.43 , pp. 763-768
    • Roux, A.F.1    Faugère, V.2    Le Guédard, S.3
  • 17
    • 0029090616 scopus 로고
    • ATS statement: Standardization of spirometry, 1994 update
    • American Thoracic Society ATS statement: standardization of spirometry, 1994 update Am J Respir Crit Care Med 152 1995 1107 1136
    • (1995) Am J Respir Crit Care Med , vol.152 , pp. 1107-1136
    • Thoracic Society, A.1
  • 18
    • 0021344250 scopus 로고
    • Efficacy of a saccharin test for screening to dectect abnormal mucociliary clearance
    • P. Stanley, L. MacWilliam, and M. Greenstone et al. Efficacy of a saccharin test for screening to dectect abnormal mucociliary clearance Br J Dis Chest 78 1984 62 65
    • (1984) Br J Dis Chest , vol.78 , pp. 62-65
    • Stanley, P.1    Macwilliam, L.2    Greenstone, M.3
  • 19
    • 0004587770 scopus 로고
    • Ciliary beat frequency of respiratory mucosal cells: Comparison of nasal and tracheal sampling sites
    • [Suppl]
    • G. Baum, Y. Roth, and H. Teichtahl et al. Ciliary beat frequency of respiratory mucosal cells: comparison of nasal and tracheal sampling sites Am Rev Respir Dis 125 1982 244 249 [Suppl]
    • (1982) Am Rev Respir Dis , vol.125 , pp. 244-249
    • Baum, G.1    Roth, Y.2    Teichtahl, H.3
  • 20
    • 11144344144 scopus 로고    scopus 로고
    • Effects of salmeterol on cilia and mucus in COPD and pneumonia patients
    • G. Piatti, U. Ambrosetti, and P. Santus et al. Effects of salmeterol on cilia and mucus in COPD and pneumonia patients Pharm Res 51 2005 165 168
    • (2005) Pharm Res , vol.51 , pp. 165-168
    • Piatti, G.1    Ambrosetti, U.2    Santus, P.3
  • 21
    • 0031750338 scopus 로고    scopus 로고
    • Myosin VIIa as a common component of cilia and microvilli
    • U. Wolfrum, X.L. Liu, and A. Schmitt et al. Myosin VIIa as a common component of cilia and microvilli Cell Motil Cytoskeleton 40 1998 261 271
    • (1998) Cell Motil Cytoskeleton , vol.40 , pp. 261-271
    • Wolfrum, U.1    Liu, X.L.2    Schmitt, A.3
  • 22
    • 33645765214 scopus 로고    scopus 로고
    • RPGR is mutated in patients with a complex X-linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
    • A. Moore, E. Escudier, and G. Roger et al. RPGR is mutated in patients with a complex X-linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa J Med Genet 43 2006 326 333
    • (2006) J Med Genet , vol.43 , pp. 326-333
    • Moore, A.1    Escudier, E.2    Roger, G.3
  • 23
    • 34248353947 scopus 로고    scopus 로고
    • Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
    • X. Liu, O.V. Bulgakov, and K.N. Darrow et al. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells Proc Natl Acad Sci U S A 104 2007 4413 4418
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 4413-4418
    • Liu, X.1    Bulgakov, O.V.2    Darrow, K.N.3
  • 24
    • 17144462774 scopus 로고    scopus 로고
    • Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss
    • M.R. Krawczynski, H. Dmennska, and M. Witt Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss J Appl Genet 45 2004 107 110
    • (2004) J Appl Genet , vol.45 , pp. 107-110
    • Krawczynski, M.R.1    Dmennska, H.2    Witt, M.3
  • 25
    • 0026514159 scopus 로고
    • A family with RP3 type of X-linked retinitis pigmentosa: An association with ciliary abnormalities
    • D.B. Van Dorp, A.F. Wright, and A.D. Carothers et al. A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities Hum Genet 88 1992 331 334
    • (1992) Hum Genet , vol.88 , pp. 331-334
    • Van Dorp, D.B.1    Wright, A.F.2    Carothers, A.D.3
  • 26
    • 0022618089 scopus 로고
    • Abnormal sperm and photoreceptor axonemes in Usher's syndrome
    • D.G. Hunter, G.A. Fishman, and R.S. Mehta et al. Abnormal sperm and photoreceptor axonemes in Usher's syndrome Arch Ophtalmol 104 1986 383 389
    • (1986) Arch Ophtalmol , vol.104 , pp. 383-389
    • Hunter, D.G.1    Fishman, G.A.2    Mehta, R.S.3
  • 27
    • 1542753557 scopus 로고    scopus 로고
    • Clinical and immunoistochemical evidence for an x linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation
    • A. Iannaccone, D.K. Breuer, and X.F. Wang et al. Clinical and immunoistochemical evidence for an x linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation J Med Genet 40 2003 118 127
    • (2003) J Med Genet , vol.40 , pp. 118-127
    • Iannaccone, A.1    Breuer, D.K.2    Wang, X.F.3
  • 28
    • 53349143685 scopus 로고    scopus 로고
    • Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly
    • S. Brunner, D. Coman, and A.J. Travis et al. Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly Biol Reprod 79 2008 608 617
    • (2008) Biol Reprod , vol.79 , pp. 608-617
    • Brunner, S.1    Coman, D.2    Travis, A.J.3
  • 29
    • 0027409796 scopus 로고
    • Usher syndrome type i associated with bronchiectasis and immotile nasal cilia in two brothers
    • D. Bonneau, F. Raymond, and C. Kremer et al. Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers J Med Genet 30 1993 253 254
    • (1993) J Med Genet , vol.30 , pp. 253-254
    • Bonneau, D.1    Raymond, F.2    Kremer, C.3
  • 30
    • 0018746314 scopus 로고
    • Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa
    • G.B. Arden, and B. Fox Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa Nature 279 1979 534 536
    • (1979) Nature , vol.279 , pp. 534-536
    • Arden, G.B.1    Fox, B.2
  • 31
    • 0037334976 scopus 로고    scopus 로고
    • Usher syndrome type 1 associated with primary ciliary aplasia
    • G.M. Tosi, M.M. De Santi, and U. Pradal et al. Usher syndrome type 1 associated with primary ciliary aplasia Arch Ophtalmol 121 2003 407 409
    • (2003) Arch Ophtalmol , vol.121 , pp. 407-409
    • Tosi, G.M.1    De Santi, M.M.2    Pradal, U.3
  • 33
    • 0023928765 scopus 로고
    • Abnormal axonemes in X-linked retinitis pigmentosa
    • D.G. Hunter, G.A. Fishman, and F.L. Kretzer Abnormal axonemes in X-linked retinitis pigmentosa Arch Ophtalmol 106 1988 362 368
    • (1988) Arch Ophtalmol , vol.106 , pp. 362-368
    • Hunter, D.G.1    Fishman, G.A.2    Kretzer, F.L.3
  • 34
    • 20944436797 scopus 로고    scopus 로고
    • The ciliary rootlet maintains long-term stability of sensory cilia
    • J. Yang, J. Gao, and M. Adamian et al. The ciliary rootlet maintains long-term stability of sensory cilia Mol Cell Biol 25 2005 4129 4137
    • (2005) Mol Cell Biol , vol.25 , pp. 4129-4137
    • Yang, J.1    Gao, J.2    Adamian, M.3
  • 35
    • 84862591654 scopus 로고    scopus 로고
    • Nasal ciliary beat frequency and beat pattern in retinal ciliopathies
    • M. Armengot, D. Salom, and M. Daiz-Llopis et al. Nasal ciliary beat frequency and beat pattern in retinal ciliopathies Invest Ophthalmol Vis Sci 53 2012 2076 2079
    • (2012) Invest Ophthalmol Vis Sci , vol.53 , pp. 2076-2079
    • Armengot, M.1    Salom, D.2    Daiz-Llopis, M.3


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