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 …

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) that …

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 …

Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder of motile cilia
characterised by chronic lung disease, rhinosinusitis, hearing impairment and subfertility. …

Background Diagnosing asthma in children represents an important clinical challenge. There
is no single gold-standard test to confirm the diagnosis. Consequently, over- and under-…

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 expensive …

Angiotensin-converting enzyme 2 (ACE2) is the main entry point in airway epithelial cells for
SARS-CoV-2. ACE2 binding to the SARS-CoV-2 protein spike triggers viral fusion with the …

Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired
function of motile cilia causes failure of mucociliary clearance. Patients typically present with …

Few original studies have described the prevalence and severity of clinical symptoms of
primary ciliary dyskinesia (PCD). This systematic review and meta-analysis aimed to identify all …

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder caused by cilia and
sperm dysmotility. About 12% of cases show perturbed 9+2 microtubule cilia structure and …