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) …
various organ systems. Genetic mutations (usually with autosomal recessive inheritance) …
Rhinitis 2020: a practice parameter update
MS Dykewicz, DV Wallace, DJ Amrol… - Journal of Allergy and …, 2020 - Elsevier
This comprehensive practice parameter for allergic rhinitis (AR) and nonallergic rhinitis
(NAR) provides updated guidance on diagnosis, assessment, selection of monotherapy and …
(NAR) provides updated guidance on diagnosis, assessment, selection of monotherapy and …
[HTML][HTML] British Thoracic Society Guideline for bronchiectasis in adults
CT scanning can also aid in identifying an aetiology of bronchiectasis eg Allergic
bronchopulmonary aspergillosis (ABPA), Non-tuberculous mycobacteria (NTM), primary …
bronchopulmonary aspergillosis (ABPA), Non-tuberculous mycobacteria (NTM), primary …
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
JS Lucas, A Barbato, SA Collins… - European …, 2017 - Eur Respiratory Soc
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex
and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …
and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …
Primary ciliary dyskinesia in the genomics age
Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired
function of motile cilia causes failure of mucociliary clearance. Patients typically present with …
function of motile cilia causes failure of mucociliary clearance. Patients typically present with …
PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia
Symptoms of primary ciliary dyskinesia (PCD) are nonspecific and guidance on whom to
refer for testing is limited. Diagnostic tests for PCD are highly specialised, requiring …
refer for testing is limited. Diagnostic tests for PCD are highly specialised, requiring …
[PDF][PDF] Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects
NT Loges, D Antony, A Maver, MA Deardorff… - The American Journal of …, 2018 - cell.com
Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for
determination of left-right body asymmetry, is a major cause of laterality defects. Laterality …
determination of left-right body asymmetry, is a major cause of laterality defects. Laterality …
[HTML][HTML] Accuracy of high-speed video analysis to diagnose primary ciliary dyskinesia
Background Diagnosis of primary ciliary dyskinesia (PCD) relies on a combination of tests.
High-speed video microscopy analysis (HSVA) is widely used to contribute to the diagnosis …
High-speed video microscopy analysis (HSVA) is widely used to contribute to the diagnosis …
Nitric oxide in primary ciliary dyskinesia
WT Walker, CL Jackson, PM Lackie… - European …, 2012 - Eur Respiratory Soc
Nitric oxide is continually synthesised in the respiratory epithelium and is upregulated in
response to infection or inflammation. Primary ciliary dyskinesia (PCD) is characterised by …
response to infection or inflammation. Primary ciliary dyskinesia (PCD) is characterised by …
Primary ciliary dyskinesia: mechanisms and management
N Damseh, N Quercia, N Rumman… - The application of …, 2017 - Taylor & Francis
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is
predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal …
predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal …