Motile ciliopathies

J Wallmeier, KG Nielsen, CE Kuehni… - Nature reviews Disease …, 2020 - nature.com
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of
various organ systems. Genetic mutations (usually with autosomal recessive inheritance) …

Current and future treatments in primary ciliary dyskinesia

T Paff, H Omran, KG Nielsen, EG Haarman - International journal of …, 2021 - mdpi.com
Primary ciliary dyskinesia (PCD) is a rare genetic ciliopathy in which mucociliary clearance
is disturbed by the abnormal motion of cilia or there is a severe reduction in the generation …

Clinical care of children with primary ciliary dyskinesia

JS Lucas, MC Alanin, S Collins, A Harris… - Expert review of …, 2017 - Taylor & Francis
Introduction: Primary ciliary dyskinesia (PCD) is a rare heterogeneous disorder, usually
inherited as an autosomal recessive condition but X-linked inheritance is also described …

Impact of motile ciliopathies on human development and clinical consequences in the newborn

RM Hyland, SL Brody - Cells, 2021 - mdpi.com
Motile cilia are hairlike organelles that project outward from a tissue-restricted subset of cells
to direct fluid flow. During human development motile cilia guide determination of the left …

Pulmonary exacerbations in patients with primary ciliary dyskinesia: an expert consensus definition for use in clinical trials

JS Lucas, F Gahleitner, A Amorim, M Boon… - ERJ open …, 2019 - Eur Respiratory Soc
Pulmonary exacerbations are a cause of significant morbidity in patients with primary ciliary
dyskinesia (PCD) and are frequently used as an outcome measure in clinical research into …

Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation

R Kos, J Israëls, CDL van Gogh… - American Journal of …, 2022 - Wiley Online Library
Primary ciliary dyskinesia (PCD) is a heterogeneous disease, with impaired mucociliary
clearance causing respiratory tract infections. A founding CCDC114 mutation has led to a …

[HTML][HTML] Respiratory muscle strength, exercise capacity and physical activity in patients with primary ciliary dyskinesia: A cross-sectional study

M Firat, M Bosnak-Guclu, T Sismanlar-Eyuboglu… - Respiratory …, 2022 - Elsevier
Background and objectives The pathophysiological mechanisms of primary ciliary
dyskinesia (PCD) may affect many functions, including respiratory, physical, and health …

Depression, anxiety, and resilience during COVID‐19 in Dutch patients with cystic fibrosis or primary ciliary dyskinesia and their caregivers

L Noij, E Haarman, S Hashimoto… - Pediatric …, 2023 - Wiley Online Library
Background The COVID‐19 pandemic has spread across the world, leading to government
measures associated with a negative impact on mental health. The aim of this study was to …

Outcomes of Endoscopic Sinus Surgery for Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia

DB Plantier, F de Rezende Pinna… - International …, 2023 - thieme-connect.com
Introduction Primary ciliary dyskinesia (PCD) is a rare inherited disease associated with
impairment of mucociliary transport and, consequently, with a high incidence of chronic …

Respiratory distress in the newborn with primary ciliary dyskinesia

E Machogu, B Gaston - Children, 2021 - mdpi.com
Primary ciliary dyskinesia (PCD) is inherited in a predominantly autosomal recessive
manner with over 45 currently identified causative genes. It is a clinically heterogeneous …