Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate
cell types, are essential for regulating signalling pathways during development and adult …

The core axoneme structure of both the motile cilium and sperm tail has the same
ultrastructural 9+ 2 microtubular arrangement. Thus, it can be expected that genetic defects …

Mutations in the germline generates all evolutionary genetic variation and is a cause of
genetic disease. Parental age is the primary determinant of the number of new germline …

Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically
incurable. Defining the genetic basis of NOA has proven challenging, and the most …

Hydrocephalus is one of the most prevalent form of developmental central nervous system
(CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body …

Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst
formation/expansion, results in enlarged kidneys and often end stage kidney disease …

Background Bronchiectasis can result from infectious, genetic, immunological and allergic
causes. 60–80% of cases are idiopathic, but a well-recognised genetic cause is the motile …

With the arrival of telomere-to-telomere (T2T) assemblies of the human genome comes the
computational challenge of efficiently and accurately constructing multiple genome …

Bardet–Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement
and autosomal recessive inheritance. The clinical picture is extremely polymorphic. The …

Phosphoinositides (PIs) are phospholipids derived from phosphatidylinositol. PIs are
regulated via reversible phosphorylation, which is directed by the opposing actions of PI …