Literature DB >> 6976061

Immotile cilia syndrome: radial spokes deficiency in a patient with Kartagener's triad.

M Antonelli, A Modesti, M De Angelis, P Marcolini, N Lucarelli, S Crifo.   

Abstract

Mucociliary transport and ultrastructure of nasal cilia in a 13 year old boy with Kartagener's triad, were investigated. Mucociliary transport was significantly delayed (greater than 30 minutes). Electron microscopy showed cilia lacking radial spokes, eccentric central tubules, and a dislocation of one the outer doublets. Dynein arms were present. We consider the radial spoke defect as a distinct congenital anomaly which contributes to the pathogenesis of the "immotile cilia syndrome".

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Year:  1981        PMID: 6976061     DOI: 10.1111/j.1651-2227.1981.tb05742.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  3 in total

1.  Radial spoke proteins of Chlamydomonas flagella.

Authors:  Pinfen Yang; Dennis R Diener; Chun Yang; Takahiro Kohno; Gregory J Pazour; Jennifer M Dienes; Nathan S Agrin; Stephen M King; Winfield S Sale; Ritsu Kamiya; Joel L Rosenbaum; George B Witman
Journal:  J Cell Sci       Date:  2006-02-28       Impact factor: 5.285

2.  Immotile cilia syndrome: reduced chemotaxis and reduced number of intramembranous particles in granulocytes.

Authors:  H Wolburg; R Dopfer; G Schieferstein; E Theil
Journal:  Klin Wochenschr       Date:  1984-11-02

3.  Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

Authors:  Dinu Antony; Anita Becker-Heck; Maimoona A Zariwala; Miriam Schmidts; Alexandros Onoufriadis; Mitra Forouhan; Robert Wilson; Theresa Taylor-Cox; Ann Dewar; Claire Jackson; Patricia Goggin; Niki T Loges; Heike Olbrich; Martine Jaspers; Mark Jorissen; Margaret W Leigh; Whitney E Wolf; M Leigh Anne Daniels; Peadar G Noone; Thomas W Ferkol; Scott D Sagel; Margaret Rosenfeld; Andrew Rutman; Abhijit Dixit; Christopher O'Callaghan; Jane S Lucas; Claire Hogg; Peter J Scambler; Richard D Emes; Eddie M K Chung; Amelia Shoemark; Michael R Knowles; Heymut Omran; Hannah M Mitchison
Journal:  Hum Mutat       Date:  2013-02-11       Impact factor: 4.878

  3 in total

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