X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

@inproceedings{Olcese2017XlinkedPC,
  title={X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3},
  author={Chiara Olcese and Mitali P. Patel and Amelia Shoemark and Santeri Kiviluoto and Marie Legendre and Hywel J Williams and Cara K Vaughan and Jane D. Hayward and Alice Goldenberg and Richard D Emes and Mustafa M. Munye and Laura Dyer and Thomas J. Cahill and Jeremy Bevillard and Corinne Gehrig and Michel Guipponi and Sandra Chantot and Philippe Duquesnoy and Lucie Thomas and Ludovic Jeanson and Bruno Copin and Aline Tamalet and Christel Thauvin-Robinet and Jean- François Papon and Antoine Garin and Isabelle Pin and Gabriella Vera and Paul Aurora and Mahmoud R. Fassad and Lucy A Jenkins and Christopher Boustred and Thomas Cullup and Mellisa Dixon and Alexandros Onoufriadis and Andrew Bush and Eddie M. K. Chung and Stylianos E. Antonarakis and Michael R. Loebinger and Robert Wilson and Miguel Armengot and Estelle Escudier and Claire L Hogg and Serge Amselem and Zhaoxia Sun and Lucia Bartoloni and J. L. Blouin and Hannah M Mitchison and Saeed Al-Turki and Carl Anderson and Dinu Antony and In{\^e}s Barroso and Philip L. Beales and Jamie R Bentham and Shoumo Bhattacharya and Keren J. Carss and Krishna K Chatterjee and Sebahattin Çirak and Catherine Cosgrove and Daly Allan and Richard Durbin and David R. FitzPatrick and Jamie Floyd and A. Reghan Foley and Chris K Franklin and Marta Futema and Steve E Humphries and Matt E. Hurles and Shane A. McCarthy and Dawn Muddyman and Fransesco Muntoni and Victoria E R Parker and Felicity Payne and Vincent Plagnol and Lucy F L Raymond and David B Savage and Peter J. Scambler and Miriam Schmidts and Robert K Semple and Eva Goncalves Serra and James Stalker and Margriet van Kogelenberg and Parthiban Vijayarangakannan and Klaudia Walter},
  booktitle={Nature communications},
  year={2017}
}
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein arm motors into cilia and flagella axonemes. Before their import into cilia and flagella, multi-subunit axonemal dynein arms are thought to be stabilized and pre-assembled in the cytoplasm… CONTINUE READING
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