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 …

The human genome encodes approximately 20,000 proteins, many still uncharacterised. It
has become clear that scientific research tends to focus on well-studied proteins, leading to …

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

Dynein-decorated doublet microtubules (DMTs) are critical components of the oscillatory
molecular machine of cilia, the axoneme, and have luminal surfaces patterned periodically …

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, rare lung disease resulting
in chronic oto‐sino‐pulmonary disease in both children and adults. Many physicians …

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 …

The axoneme of motile cilia is the largest macromolecular machine of eukaryotic cells. In
humans, impaired axoneme function causes a range of ciliopathies. Axoneme assembly …

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 …

Idiopathic scoliosis (IS) affects 3% of children worldwide, yet the mechanisms underlying this
spinal deformity remain unknown. Here we show that ptk7 mutant zebrafish, a faithful …