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The authors propose CCDC39 and CCDC40 mutation as the major cause of PCD with IDA defects, which can be useful for the diagnosis of this alteration, often difficult to be discriminated by electron microscopy
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•• Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, et al. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. J Med Genet. 2012;49:410-6. The authors propose CCDC39 and CCDC40 mutation as the major cause of PCD with IDA defects, which can be useful for the diagnosis of this alteration, often difficult to be discriminated by electron microscopy.
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Blanchon, S.1
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80
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Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms
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Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, et al. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat. 2013;34:462-72.
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81
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Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome)
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A family with RP3 type of X-linked retinitis pigmentosa: An association with ciliary abnormalities
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Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation
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Iannaccone A, Breuer DK, Wang XF, Kuo SF, Normando EM, Filippova E, 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. 2003;40:e118.
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RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
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Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, et al. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet. 2006;43:326-33.
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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
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DOI 10.1007/s00439-006-0210-5
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Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, et al. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet. 2006;120(2):171-8. (Pubitemid 44204005)
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DOI 10.1002/ppul.30001
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Krawczyński MR, Witt M. PCD and RP: X-linked inheritance of both disorders? Pediatr Pulmonol. 2004;38:88-9. (Pubitemid 38823763)
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Zito I, Downes SM, Patel RJ, Cheetham ME, Ebenezer ND, Jenkins SA, et al. RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet. 2003;40:609-15. (Pubitemid 37046916)
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RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia
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DOI 10.1167/iovs.02-1206
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Hong DH, Pawlyk B, Sokolov M, Strissel KJ, Yang J, Tulloch B, et al. RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia. Invest Ophthalmol Vis Sci. 2003;44:2413-21. (Pubitemid 36618396)
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Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia
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DOI 10.1038/sj.emboj.7600885
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Schermer B, Höpker K, Omran H, Ghenoiu C, Fliegauf M, Fekete A, et al. Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. EMBO J. 2005;24:4415-24. (Pubitemid 41828915)
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EMBO Journal
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Schermer, B.1
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90
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RPGR mutations might cause reduced orientation of respiratory cilia
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This study confirms that RPGR mutations affect the ciliary beat coordination and the proper respiratory cilia orientation, contributing to the PCD phenotype
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•• Bukowy-Bieryłło Z, Ziȩtkiewicz E, Loges NT, Wittmer M, Geremek M, Olbrich H, et al. RPGR mutations might cause reduced orientation of respiratory cilia. Pediatr Pulmonol. 2013;48:352-63. This study confirms that RPGR mutations affect the ciliary beat coordination and the proper respiratory cilia orientation, contributing to the PCD phenotype.
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(2013)
Pediatr Pulmonol
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Bukowy-Bieryłło, Z.1
Ziȩtkiewicz, E.2
Loges, N.T.3
Wittmer, M.4
Geremek, M.5
Olbrich, H.6
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