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) …

Volume electron microscopy

CJ Peddie, C Genoud, A Kreshuk, K Meechan… - Nature Reviews …, 2022 - nature.com
Life exists in three dimensions, but until the turn of the century most electron microscopy
methods provided only 2D image data. Recently, electron microscopy techniques capable of …

Motile cilia and airway disease

M Legendre, LE Zaragosi, HM Mitchison - Seminars in cell & …, 2021 - Elsevier
A finely regulated system of airway epithelial development governs the differentiation of
motile ciliated cells of the human respiratory tract, conferring the body's mucociliary …

Diagnosis of primary ciliary dyskinesia

M Goutaki, A Shoemark - Clinics in chest medicine, 2022 - chestmed.theclinics.com
Primary ciliary dyskinesia (PCD) is a rare multiorgan disease caused by genetic mutations
resulting in defects in motile cilia. Because cilia are responsible for clearing the secretions …

[HTML][HTML] Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences

R Pereira, T Barbosa, AL Cardoso, R Sá, M Sousa - Respiratory medicine, 2023 - Elsevier
Cystic fibrosis (CF) and Primary ciliary dyskinesia (PCD) are both rare chronic diseases,
inherited disorders associated with multiple complications, namely respiratory …

Progress in diagnosing primary ciliary dyskinesia: the North American perspective

MG O'Connor, A Horani, AJ Shapiro - Diagnostics, 2021 - mdpi.com
Primary Ciliary Dyskinesia (PCD) is a rare, under-recognized disease that affects respiratory
ciliary function, resulting in chronic oto-sino-pulmonary disease. The PCD clinical phenotype …

Primary ciliary dyskinesia

J Raidt, NT Loges, H Olbrich, J Wallmeier… - La Presse Médicale, 2023 - Elsevier
Background and objectives Primary ciliary dyskinesia (PCD, ORPHA: 244) is a group of rare
genetic disorders characterized by dysfunction of motile cilia. It is phenotypically and …

Limitations of nasal nitric oxide measurement for diagnosis of primary ciliary dyskinesia with normal ultrastructure

J Raidt, H Krenz, J Tebbe… - Annals of the …, 2022 - atsjournals.org
Rationale: Primary ciliary dyskinesia (PCD) is a heterogeneous, multisystem disorder
characterized by defective ciliary beating. Diagnostic guidelines of the American Thoracic …

Primary ciliary dyskinesia

A Shoemark, K Harman - Seminars in respiratory and critical …, 2021 - thieme-connect.com
Primary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis. The estimated PCD
prevalence in children with bronchiectasis is up to 26% and in adults with bronchiectasis is 1 …

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

G Wheway, NS Thomas, M Carroll, J Coles… - BMC Medical …, 2021 - Springer
Background It is estimated that 1–13% of cases of bronchiectasis in adults globally are
attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis …