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Volumn 61, Issue 2, 2010, Pages 149-159

Primary ciliary dyskinesia. Ciliopathies;Discinesia ciliar primaria. Ciliopatías

Author keywords

Bronchiectasis; Kartagener's syndrome; Oncogenesis; Retinitis pigmentosa; Sinusitis; Situs inversus; Usher's syndrome

Indexed keywords

ANTIBIOTIC AGENT; BRONCHODILATING AGENT; DNA1 PROTEIN; DNAH5 PROTEIN; IMMUNOGLOBULIN; NITRIC OXIDE; PROTEIN; UNCLASSIFIED DRUG;

EID: 76049126901     PISSN: 00016519     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.otorri.2009.01.013     Document Type: Short Survey
Times cited : (18)

References (60)
  • 1
    • 7944223873 scopus 로고    scopus 로고
    • Cilia related diseases
    • Afzelius B.A. Cilia related diseases. J Pathol 204 (2004) 470-477
    • (2004) J Pathol , vol.204 , pp. 470-477
    • Afzelius, B.A.1
  • 2
    • 35448961665 scopus 로고    scopus 로고
    • When cilia go bad: cilia defects and ciliopathies
    • Fligauf M., Benzing T., and Omran H. When cilia go bad: cilia defects and ciliopathies. Molecular Cell Biology 8 (2007) 880-893
    • (2007) Molecular Cell Biology , vol.8 , pp. 880-893
    • Fligauf, M.1    Benzing, T.2    Omran, H.3
  • 4
    • 1642564276 scopus 로고    scopus 로고
    • To beat or not to beat: roles of cilia in development and disease
    • Ibañez-Tallon I., Zariwala M., and Knowles M. To beat or not to beat: roles of cilia in development and disease. Hum Mol Genet 12 (2003) R27-R35
    • (2003) Hum Mol Genet , vol.12
    • Ibañez-Tallon, I.1    Zariwala, M.2    Knowles, M.3
  • 6
    • 36849090559 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia: current state of the art
    • Bush A., Chodhari R., Collins N., et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child 92 (2007) 1136-1140
    • (2007) Arch Dis Child , vol.92 , pp. 1136-1140
    • Bush, A.1    Chodhari, R.2    Collins, N.3
  • 7
    • 0037334326 scopus 로고    scopus 로고
    • Polycystic kidney disease: the ciliary connection
    • Ong A.C.M., and Wheatley D.N. Polycystic kidney disease: the ciliary connection. Lancet 361 (2003) 774-776
    • (2003) Lancet , vol.361 , pp. 774-776
    • Ong, A.C.M.1    Wheatley, D.N.2
  • 8
    • 33748769378 scopus 로고    scopus 로고
    • The ciliopathies: an emerging class of human genetic disorders
    • Badano J.L., Mitsuma N., Beales P.L., et al. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 7 (2006) 125-148
    • (2006) Annu Rev Genomics Hum Genet , vol.7 , pp. 125-148
    • Badano, J.L.1    Mitsuma, N.2    Beales, P.L.3
  • 9
    • 0001668367 scopus 로고
    • Immotile-cilia syndrome (primary ciliary dyskinesia), including Kartagener syndrome
    • Scriver C., Beaudet A.L., Sly W., and Valle D. (Eds), McGraw-Hill, New York
    • a ed (1995), McGraw-Hill, New York 3943-3954
    • (1995) a ed , pp. 3943-3954
    • Afzelius, B.A.1    Mossberg, B.2
  • 10
    • 33746339499 scopus 로고    scopus 로고
    • Prevalence and genetics of immotile-cilia syndrome and left-handedness
    • Afzelius B.A., and Stenram U. Prevalence and genetics of immotile-cilia syndrome and left-handedness. Int J Dev Biol 50 (2006) 571
    • (2006) Int J Dev Biol , vol.50 , pp. 571
    • Afzelius, B.A.1    Stenram, U.2
  • 11
    • 76049125508 scopus 로고    scopus 로고
    • Rinosinusitis y enfermedades multisistémicas. Disquinesias mucociliares
    • Suárez C., Gil-Carcedo L.M., Medina J., Marco J., and Ortega P. (Eds), Médica Panamericana, Madrid
    • a ed (2007), Médica Panamericana, Madrid 753-764
    • (2007) a ed , pp. 753-764
    • Armengot Carceller, M.1    Carda Batalla, C.2
  • 13
    • 14344261604 scopus 로고    scopus 로고
    • Study of mucociliary transport and nasal ciliary ultrastructure in patients with Kartagener's syndrome
    • Armengot Carceller M., Carda Batalla C., Escribano A., and Samper G.J. Study of mucociliary transport and nasal ciliary ultrastructure in patients with Kartagener's syndrome. Arch Bronconeumol 41 (2005) 11-15
    • (2005) Arch Bronconeumol , vol.41 , pp. 11-15
    • Armengot Carceller, M.1    Carda Batalla, C.2    Escribano, A.3    Samper, G.J.4
  • 14
    • 22244443066 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia: a review
    • Carlen B., and Stenram U. Primary ciliary dyskinesia: a review. Ultrastruct Pathol 29 (2005) 217-220
    • (2005) Ultrastruct Pathol , vol.29 , pp. 217-220
    • Carlen, B.1    Stenram, U.2
  • 15
    • 0030698259 scopus 로고    scopus 로고
    • Longitudinal study of lung function in a cohort of primary ciliary dyskinesia
    • Ellerman A., and Bisgaard H. Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. Eur Respir J 10 (1997) 2376-2379
    • (1997) Eur Respir J , vol.10 , pp. 2376-2379
    • Ellerman, A.1    Bisgaard, H.2
  • 16
    • 0442313529 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia: diagnostic and phenotypic features
    • Noone P., Leigh M., Sannuti A., et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respire Crit Care Med 169 (2004) 459-467
    • (2004) Am J Respire Crit Care Med , vol.169 , pp. 459-467
    • Noone, P.1    Leigh, M.2    Sannuti, A.3
  • 17
    • 4644225352 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions
    • Geremek M., and Uit M. Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions. J Appl Genet 45 (2004) 347-361
    • (2004) J Appl Genet , vol.45 , pp. 347-361
    • Geremek, M.1    Uit, M.2
  • 18
    • 0034019801 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia: a genome -wide linkage analysis reveals extensive locus heterogeneity
    • Bloudin J., Meeks M., Radhakrishna U., et al. Primary ciliary dyskinesia: a genome -wide linkage analysis reveals extensive locus heterogeneity. Eur J Hum Genet 8 (2000) 109-118
    • (2000) Eur J Hum Genet , vol.8 , pp. 109-118
    • Bloudin, J.1    Meeks, M.2    Radhakrishna, U.3
  • 19
    • 34249676831 scopus 로고    scopus 로고
    • Genetic causes of bronchiectasis: Primary ciliary dyskinesia
    • Morillas H., Zariwala M., and Knowles M. Genetic causes of bronchiectasis: Primary ciliary dyskinesia. Respiration 74 (2007) 252-263
    • (2007) Respiration , vol.74 , pp. 252-263
    • Morillas, H.1    Zariwala, M.2    Knowles, M.3
  • 20
    • 33947525850 scopus 로고    scopus 로고
    • Genetic defects in ciliary structure and function
    • Zariwala M., Knowles M., and Omran H. Genetic defects in ciliary structure and function. Annu Rev Physiol 69 (2007) 423-450
    • (2007) Annu Rev Physiol , vol.69 , pp. 423-450
    • Zariwala, M.1    Knowles, M.2    Omran, H.3
  • 21
    • 1542753557 scopus 로고    scopus 로고
    • Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation
    • Iannaccone A., Breuer D., Wang X., et al. Clinical and immunohistochemical 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) e118
    • (2003) J Med Genet , vol.40
    • Iannaccone, A.1    Breuer, D.2    Wang, X.3
  • 22
    • 0036062162 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia (PCD) in children-age and at diagnosis and symptoms history
    • Coren M., Meeks M., Buchdahl R., et al. Primary ciliary dyskinesia (PCD) in children-age and at diagnosis and symptoms history. Acta Paediatr 91 (2002) 667-669
    • (2002) Acta Paediatr , vol.91 , pp. 667-669
    • Coren, M.1    Meeks, M.2    Buchdahl, R.3
  • 23
    • 21844468020 scopus 로고    scopus 로고
    • Hearing outcomes in children with primary ciliary dyskinesia-a longitudinal study
    • Majithia A., Fong J., Hariri M., and Harcourt J. Hearing outcomes in children with primary ciliary dyskinesia-a longitudinal study. Int J Pediatr Otorhinolaryngol 69 (2005) 1061
    • (2005) Int J Pediatr Otorhinolaryngol , vol.69 , pp. 1061
    • Majithia, A.1    Fong, J.2    Hariri, M.3    Harcourt, J.4
  • 24
    • 0033372830 scopus 로고    scopus 로고
    • Bronchiolitis in Kartagener's syndrome
    • Homma S., Kawabata M., Kishi K., et al. Bronchiolitis in Kartagener's syndrome. Eur Respir J 14 (1999) 1332
    • (1999) Eur Respir J , vol.14 , pp. 1332
    • Homma, S.1    Kawabata, M.2    Kishi, K.3
  • 25
    • 34247571813 scopus 로고    scopus 로고
    • High-resolution CT of patients with primary ciliary dyskinesia
    • Kennedy M.P., Noone P.G., Leigh M.W., et al. High-resolution CT of patients with primary ciliary dyskinesia. AJR Am J Roentgenol 188 (2007) 1232
    • (2007) AJR Am J Roentgenol , vol.188 , pp. 1232
    • Kennedy, M.P.1    Noone, P.G.2    Leigh, M.W.3
  • 28
    • 0032444690 scopus 로고    scopus 로고
    • Axonema ciliar incompleto. ¿Otra causa de síndrome de inmotilidad ciliar?
    • Armengot M., Carda C., and Basterra J. Axonema ciliar incompleto. ¿Otra causa de síndrome de inmotilidad ciliar?. Acta Otorrinolaringol Esp 49 (1998) 57-59
    • (1998) Acta Otorrinolaringol Esp , vol.49 , pp. 57-59
    • Armengot, M.1    Carda, C.2    Basterra, J.3
  • 29
    • 76049083314 scopus 로고    scopus 로고
    • Transporte y disfunción mucociliar
    • Mullol J., and Montserrat J.R. (Eds), Ediciones Médicas, Badalona
    • Armengot M. Transporte y disfunción mucociliar. In: Mullol J., and Montserrat J.R. (Eds). Rinitis, rinosinusitis, poliposis nasal (2005), Ediciones Médicas, Badalona 133-155
    • (2005) Rinitis, rinosinusitis, poliposis nasal , pp. 133-155
    • Armengot, M.1
  • 30
    • 6344284577 scopus 로고    scopus 로고
    • Nasal nitric oxide measurements to screen children for primary ciliary dyskinesia
    • Corbelli R., Bringolf-Isler B., Amacher A., et al. Nasal nitric oxide measurements to screen children for primary ciliary dyskinesia. Chest 126 (2004) 1054
    • (2004) Chest , vol.126 , pp. 1054
    • Corbelli, R.1    Bringolf-Isler, B.2    Amacher, A.3
  • 31
    • 0037256640 scopus 로고    scopus 로고
    • Comparison of exhaled and nasal nitric oxide and exhaled carbon monoxide levels in bronchiectatic patients with and without primary ciliary dyskinesia
    • Horvath I., Loukides S., Wodehouse T., et al. Comparison of exhaled and nasal nitric oxide and exhaled carbon monoxide levels in bronchiectatic patients with and without primary ciliary dyskinesia. Thorax 58 (2003) 68
    • (2003) Thorax , vol.58 , pp. 68
    • Horvath, I.1    Loukides, S.2    Wodehouse, T.3
  • 32
    • 33947407259 scopus 로고    scopus 로고
    • Nasal nitric oxide in atypical primary ciliary dyskinesia
    • Pifferi M., Caramella D., Cangiotti A.M., et al. Nasal nitric oxide in atypical primary ciliary dyskinesia. Chest 131 (2007) 870
    • (2007) Chest , vol.131 , pp. 870
    • Pifferi, M.1    Caramella, D.2    Cangiotti, A.M.3
  • 34
    • 0025487904 scopus 로고
    • Valores normales de aclaramiento mucociliar nasal. Comparación de diferentes técnicas y sustancias
    • Armengot M., Basterra J., and Garín L. Valores normales de aclaramiento mucociliar nasal. Comparación de diferentes técnicas y sustancias. Acta Otorrinolaringol Esp 5 (1990) 333-336
    • (1990) Acta Otorrinolaringol Esp , vol.5 , pp. 333-336
    • Armengot, M.1    Basterra, J.2    Garín, L.3
  • 36
    • 0034111760 scopus 로고    scopus 로고
    • Analysis of ciliary beat pattern and beat frequency using digital high speed imaging: comparison with the photomultiplier and photodiode methods
    • Chilvers M.A., and O'Callaghan C. Analysis of ciliary beat pattern and beat frequency using digital high speed imaging: comparison with the photomultiplier and photodiode methods. Thorax 55 (2000) 314-317
    • (2000) Thorax , vol.55 , pp. 314-317
    • Chilvers, M.A.1    O'Callaghan, C.2
  • 37
    • 0042235314 scopus 로고    scopus 로고
    • Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia
    • Chilvers M.A., Rutman A., and O'Callaghan C. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia. J Allergy Clin Immunol 112 (2003) 518-524
    • (2003) J Allergy Clin Immunol , vol.112 , pp. 518-524
    • Chilvers, M.A.1    Rutman, A.2    O'Callaghan, C.3
  • 38
    • 0034571937 scopus 로고    scopus 로고
    • Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture
    • Jorissen M., Willems T., Van der Schueren B., et al. Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture. Acta Otorhinolaryngol Belg 54 (2000) 343
    • (2000) Acta Otorhinolaryngol Belg , vol.54 , pp. 343
    • Jorissen, M.1    Willems, T.2    Van der Schueren, B.3
  • 39
    • 26944440889 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia: Clinical presentation, diagnosis and genetics
    • Storm van's Gravesande K., and Omran H. Primary ciliary dyskinesia: Clinical presentation, diagnosis and genetics. Annals of Medicine 37 (2005) 439-449
    • (2005) Annals of Medicine , vol.37 , pp. 439-449
    • Storm van's Gravesande, K.1    Omran, H.2
  • 40
    • 15244341831 scopus 로고    scopus 로고
    • Ultrastructural patterns of primary ciliary dyskinesia síndrome
    • Carda C., Armengot M., Escribano A., and Peydro A. Ultrastructural patterns of primary ciliary dyskinesia síndrome. Ultrastruct Pathol 29 (2005) 3-8
    • (2005) Ultrastruct Pathol , vol.29 , pp. 3-8
    • Carda, C.1    Armengot, M.2    Escribano, A.3    Peydro, A.4
  • 41
    • 0021350037 scopus 로고
    • Nasal ciliary ultrastructure and function in patients with Primary ciliary dyskinesia compared with that in normal subjects and in subjects with various respiratory diseases
    • Rossman C., Lee R., Forrest J., and Newhose M. Nasal ciliary ultrastructure and function in patients with Primary ciliary dyskinesia compared with that in normal subjects and in subjects with various respiratory diseases. Am Rev Respir Dis 129 (1984) 161-167
    • (1984) Am Rev Respir Dis , vol.129 , pp. 161-167
    • Rossman, C.1    Lee, R.2    Forrest, J.3    Newhose, M.4
  • 42
    • 1542644325 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome) respiratory symptoms and psycho-social impact
    • McManus I., Mitchison H., Chung E., et al. Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome) respiratory symptoms and psycho-social impact. BMC Pulm Med 3 (2003) 4
    • (2003) BMC Pulm Med , vol.3 , pp. 4
    • McManus, I.1    Mitchison, H.2    Chung, E.3
  • 43
    • 0031862746 scopus 로고    scopus 로고
    • Airway response of children with primary dyskinesia to exercise and beta-2 agonists challenge
    • Philips G., Thomas S., Heather S., et al. Airway response of children with primary dyskinesia to exercise and beta-2 agonists challenge. Eur Respir J 11 (1998) 1389-1391
    • (1998) Eur Respir J , vol.11 , pp. 1389-1391
    • Philips, G.1    Thomas, S.2    Heather, S.3
  • 44
    • 0031196473 scopus 로고    scopus 로고
    • Treatment of otitis media with effusion in children with primary ciliary dyskinesia
    • Hadfield P., Rowe-Jones J., Bush A., et al. Treatment of otitis media with effusion in children with primary ciliary dyskinesia. Clin Otolaryngol 22 (1997) 302-306
    • (1997) Clin Otolaryngol , vol.22 , pp. 302-306
    • Hadfield, P.1    Rowe-Jones, J.2    Bush, A.3
  • 45
    • 21844468020 scopus 로고    scopus 로고
    • Hearing outcomes in children with primary ciliary dyskinesia-a longitudinal study
    • Majitha A., Fong J., Hariri M., et al. Hearing outcomes in children with primary ciliary dyskinesia-a longitudinal study. Int J Pediatr Otorhinolaryngol 69 (2005) 1061-1064
    • (2005) Int J Pediatr Otorhinolaryngol , vol.69 , pp. 1061-1064
    • Majitha, A.1    Fong, J.2    Hariri, M.3
  • 47
    • 33947384151 scopus 로고    scopus 로고
    • Overview of structure and function on mammalian cilia
    • Satir P., and Christensen S. Overview of structure and function on mammalian cilia. Annu Rev Physiol 69 (2007) 377-400
    • (2007) Annu Rev Physiol , vol.69 , pp. 377-400
    • Satir, P.1    Christensen, S.2
  • 48
    • 4544383179 scopus 로고    scopus 로고
    • A genetic screen in zebrafish identifies cilia genes as a principal cause in cystic kidney
    • Sun Z., Amsterdam A., Pazour G., Cole D., Miller M., and Hopkins N. A genetic screen in zebrafish identifies cilia genes as a principal cause in cystic kidney. Development 131 (2004) 4085-4093
    • (2004) Development , vol.131 , pp. 4085-4093
    • Sun, Z.1    Amsterdam, A.2    Pazour, G.3    Cole, D.4    Miller, M.5    Hopkins, N.6
  • 49
    • 0041592700 scopus 로고    scopus 로고
    • Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
    • Otto E., Schermer B., Obara T., et al. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet 34 (2003) 413-420
    • (2003) Nat Genet , vol.34 , pp. 413-420
    • Otto, E.1    Schermer, B.2    Obara, T.3
  • 50
    • 0037557518 scopus 로고    scopus 로고
    • Removal of the MDCK cell primary cilium abolishes flow sensing
    • Praetorius H., and Spring K. Removal of the MDCK cell primary cilium abolishes flow sensing. J Membr Biol 191 (2003) 69-76
    • (2003) J Membr Biol , vol.191 , pp. 69-76
    • Praetorius, H.1    Spring, K.2
  • 53
    • 0348162558 scopus 로고    scopus 로고
    • Photoreceptor intersegmental transport and retinal degeneration: a conserved pathway common to motile and sensory cilia
    • Besharse J., Baker S., Luby-Phelps K., and Pazour G. Photoreceptor intersegmental transport and retinal degeneration: a conserved pathway common to motile and sensory cilia. Adv Exp Med Biol 533 (2003) 157-164
    • (2003) Adv Exp Med Biol , vol.533 , pp. 157-164
    • Besharse, J.1    Baker, S.2    Luby-Phelps, K.3    Pazour, G.4
  • 54
    • 0036140012 scopus 로고    scopus 로고
    • Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors
    • Liu Q., Zhou J., Daoger S., et al. Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophtalmol Vis Sci 43 (2002) 22-32
    • (2002) Invest Ophtalmol Vis Sci , vol.43 , pp. 22-32
    • Liu, Q.1    Zhou, J.2    Daoger, S.3
  • 55
    • 0038485864 scopus 로고    scopus 로고
    • RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia
    • Hong D., Pawlyk B., and Sokolov M. RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia. Invest Ophtalmol Vis Sci 44 (2003) 2413-2421
    • (2003) Invest Ophtalmol Vis Sci , vol.44 , pp. 2413-2421
    • Hong, D.1    Pawlyk, B.2    Sokolov, M.3
  • 56
    • 0033178821 scopus 로고    scopus 로고
    • Calcium signalling and regulation in olfactory neurons
    • Menini A. Calcium signalling and regulation in olfactory neurons. Curr Opin Neurobiol 9 (1999) 419-426
    • (1999) Curr Opin Neurobiol , vol.9 , pp. 419-426
    • Menini, A.1
  • 58
    • 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., Slapnick S., and August B. The kinocilium of auditory hair cells and evidence for its morphogenetic role during the regeneration of stereocilia and cuticular plates. J Neurocytol 24 (1995) 633-653
    • (1995) J Neurocytol , vol.24 , pp. 633-653
    • Sobkowicz, H.1    Slapnick, S.2    August, B.3
  • 59
    • 0036019389 scopus 로고    scopus 로고
    • Stereocilia defects in waltzer (Cdh23), shakert1 (myo7a) and double waltzer/sahker1 mutant mice
    • Holmer R., and Steel K. Stereocilia defects in waltzer (Cdh23), shakert1 (myo7a) and double waltzer/sahker1 mutant mice. Hear Res 169 (2002) 13-23
    • (2002) Hear Res , vol.169 , pp. 13-23
    • Holmer, R.1    Steel, K.2
  • 60
    • 0032831935 scopus 로고    scopus 로고
    • Kinesin-II is preferentially targeted to assembling cilia and is required for ciliogenesis and normal cytokinesis in tetrahymena
    • Brown J., Marsala C., Kosoy R., and Gaertig J. Kinesin-II is preferentially targeted to assembling cilia and is required for ciliogenesis and normal cytokinesis in tetrahymena. Mol Biol Cell 10 (1999) 3081-3096
    • (1999) Mol Biol Cell , vol.10 , pp. 3081-3096
    • Brown, J.1    Marsala, C.2    Kosoy, R.3    Gaertig, J.4


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