Primary ciliary dyskinesia: current state of the art

A Bush, R Chodhari, N Collins, F Copeland… - Archives of disease in …, 2007 - adc.bmj.com
Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive disorder and
presents with upper and lower respiratory tract infection, and mirror image arrangement in …

Motile and non‐motile cilia in human pathology: from function to phenotypes

HM Mitchison, EM Valente - The Journal of pathology, 2017 - Wiley Online Library
Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …

Diagnosis and management of primary ciliary dyskinesia

JS Lucas, A Burgess, HM Mitchison, E Moya… - Archives of disease in …, 2014 - adc.bmj.com
Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder of motile cilia
characterised by chronic lung disease, rhinosinusitis, hearing impairment and subfertility …

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

H Olbrich, K Häffner, A Kispert, A Völkel, A Volz… - Nature …, 2002 - nature.com
Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the
respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the …

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

L Bartoloni, JL Blouin, Y Pan… - Proceedings of the …, 2002 - National Acad Sciences
Primary ciliary dyskinesia (PCD; MIM 242650) is an autosomal recessive disorder of ciliary
dysfunction with extensive genetic heterogeneity. PCD is characterized by bronchiectasis …

[PDF][PDF] Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

VH Castleman, L Romio, R Chodhari, RA Hirst… - The American Journal of …, 2009 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous inherited disorder arising
from dysmotility of motile cilia and sperm. This is associated with a variety of ultrastructural …

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

HM Mitchison, M Schmidts, NT Loges, J Freshour… - Nature …, 2012 - nature.com
Primary ciliary dyskinesia most often arises from loss of the dynein motors that power ciliary
beating. Here we show that DNAAF3 (also known as PF22), a previously uncharacterized …

[PDF][PDF] Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

H Olbrich, M Schmidts, C Werner, A Onoufriadis… - The American Journal of …, 2012 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder
characterized by defective cilia and flagella motility. Chronic destructive-airway disease is …

DYX1C1 is required for axonemal dynein assembly and ciliary motility

A Tarkar, NT Loges, CE Slagle, R Francis… - Nature …, 2013 - nature.com
DYX1C1 has been associated with dyslexia and neuronal migration in the developing
neocortex. Unexpectedly, we found that deleting exons 2–4 of Dyx1c1 in mice caused a …

[PDF][PDF] DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm

NT Loges, H Olbrich, L Fenske, H Mussaffi… - The American Journal of …, 2008 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by
chronic destructive airway disease and randomization of left/right body asymmetry. Males …