학술논문
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Document Type
article
Author
Chiara Olcese; Mitali P. Patel; Amelia Shoemark; Santeri Kiviluoto; Marie Legendre; Hywel J. Williams; Cara K. Vaughan; Jane Hayward; Alice Goldenberg; Richard D. Emes; Mustafa M. Munye; Laura Dyer; Thomas Cahill; Jeremy Bevillard; Corinne Gehrig; Michel Guipponi; Sandra Chantot; Philippe Duquesnoy; Lucie Thomas; Ludovic Jeanson; Bruno Copin; Aline Tamalet; Christel Thauvin-Robinet; Jean- François Papon; Antoine Garin; Isabelle Pin; Gabriella Vera; Paul Aurora; Mahmoud R. Fassad; Lucy Jenkins; Christopher Boustred; Thomas Cullup; Mellisa Dixon; Alexandros Onoufriadis; Andrew Bush; Eddie M. K. Chung; Stylianos E. Antonarakis; Michael R. Loebinger; Robert Wilson; Miguel Armengot; Estelle Escudier; Claire Hogg; UK10K Rare Group; Serge Amselem; Zhaoxia Sun; Lucia Bartoloni; Jean-Louis Blouin; Hannah M. Mitchison
Source
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Subject
Language
English
ISSN
2041-1723
Abstract
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease resulting in reduced mucus clearance and impaired lung function. Here, the authors show that mutations in PIH1D3 are responsible for an X-linked form of PCD, affecting assembly of a subset of inner arm dyneins.