X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3-Reference-Cited by-同舟云学术

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

Published:2017-02-08 Issue:1 Volume:8 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

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.

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/ncomms14279.pdf

Reference63 articles.

1. Ishikawa, T. Axoneme structure from motile cilia. Cold Spring Harb Perspect Biol doi: 10.1101/cshperspect.a028076 (2016).

2. Lucas, J. S. et al. Diagnosis and management of primary ciliary dyskinesia. Arch. Dis. Child. 99, 850–856 (2014).

3. Boon, M. et al. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat. Commun. 5, 4418 (2014).

4. Shapiro, A. J. et al. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest 146, 1176–1186 (2014).

5. Duquesnoy, P. et al. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am. J. Hum. Genet. 85, 890–896 (2009).

Cited by 132 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility;Asian Journal of Andrology;2024-09-10

2. The binding of LARP6 and DNAAF6 in biomolecular condensates influences ciliogenesis of multiciliated cells;Journal of Biological Chemistry;2024-06

3. Primary ciliary dyskinesia in Egypt: First report of cilia ultrastructural defects and novel genetic variants;Pediatric Pulmonology;2024-04-18

4. Skewed X-chromosome inactivation drives the proportion ofDNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia;Journal of Medical Genetics;2024-02-26

5. Decoding negative genetic panels in primary ciliary dyskinesia;Pediatric Pulmonology;2023-12-05