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) …

This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

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

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 …

Ten to fifteen percent of couples are confronted with infertility and a male factor is involved in
approximately half the cases. A genetic etiology is likely in most cases yet only few genes …

BACKGROUND Male infertility affects> 20 million men worldwide and represents a major
health concern. Although multifactorial, male infertility has a strong genetic basis which has …

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 …

Ciliopathies are a growing class of disorders caused by abnormal ciliary axonemal structure
and function. Our understanding of the complex genetic and functional phenotypes of these …

Rationale: Several studies suggest that nasal nitric oxide (nNO) measurement could be a
test for primary ciliary dyskinesia (PCD), but the procedure and interpretation have not been …

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder
characterized by defective cilia and flagella motility. Chronic destructive-airway disease is …