X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly fac...
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
About this item
Full title
Author / Creator
UK10K Rare Group , Olcese, Chiara , Patel, Mitali P. , Shoemark, Amelia , Kiviluoto, Santeri , Legendre, Marie , Williams, Hywel J. , Vaughan, Cara K. , Hayward, Jane , Goldenberg, Alice , Emes, Richard D. , Munye, Mustafa M. , Dyer, Laura , Cahill, Thomas , Bevillard, Jeremy , Gehrig, Corinne , Guipponi, Michel , Chantot, Sandra , Duquesnoy, Philippe , Thomas, Lucie , Jeanson, Ludovic , Copin, Bruno , Tamalet, Aline , Thauvin-Robinet, Christel , Papon, Jean- François , Garin, Antoine , Pin, Isabelle , Vera, Gabriella , Aurora, Paul , Fassad, Mahmoud R. , Jenkins, Lucy , Boustred, Christopher , Cullup, Thomas , Dixon, Mellisa , Onoufriadis, Alexandros , Bush, Andrew , Chung, Eddie M. K. , Antonarakis, Stylianos E. , Loebinger, Michael R. , Wilson, Robert , Armengot, Miguel , Escudier, Estelle , Hogg, Claire , Amselem, Serge , Sun, Zhaoxia , Bartoloni, Lucia , Blouin, Jean-Louis and Mitchison, Hannah M.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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....
Alternative Titles
Full title
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Authors, Artists and Contributors
Author / Creator
Olcese, Chiara
Patel, Mitali P.
Shoemark, Amelia
Kiviluoto, Santeri
Legendre, Marie
Williams, Hywel J.
Vaughan, Cara K.
Hayward, Jane
Goldenberg, Alice
Emes, Richard D.
Munye, Mustafa M.
Dyer, Laura
Cahill, Thomas
Bevillard, Jeremy
Gehrig, Corinne
Guipponi, Michel
Chantot, Sandra
Duquesnoy, Philippe
Thomas, Lucie
Jeanson, Ludovic
Copin, Bruno
Tamalet, Aline
Thauvin-Robinet, Christel
Papon, Jean- François
Garin, Antoine
Pin, Isabelle
Vera, Gabriella
Aurora, Paul
Fassad, Mahmoud R.
Jenkins, Lucy
Boustred, Christopher
Cullup, Thomas
Dixon, Mellisa
Onoufriadis, Alexandros
Bush, Andrew
Chung, Eddie M. K.
Antonarakis, Stylianos E.
Loebinger, Michael R.
Wilson, Robert
Armengot, Miguel
Escudier, Estelle
Hogg, Claire
Amselem, Serge
Sun, Zhaoxia
Bartoloni, Lucia
Blouin, Jean-Louis
Mitchison, Hannah M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_42fb48d78cb043158c1b5f52a9b9ea5e
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_42fb48d78cb043158c1b5f52a9b9ea5e
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/ncomms14279
