Organ fibrosis is a shared endpoint of many diseases, yet underlying mechanisms are not
well understood. Several pathways governed by the primary cilium, a sensory antenna …

Background An emerging number of clinically and genetically heterogeneous diseases now
collectively termed ciliopathies have been connected to the dysfunction of primary cilia. We …

The primary cilium is an organelle essential for cell signaling pathways. One of the most
common human genetic diseases is autosomal dominant polycystic kidney disease …

Ciliopathies comprise a group of disorders associated with genetic mutations encoding
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …

Soon, the genetic basis of most human Mendelian diseases will be solved. The next
challenge will be to leverage this information to uncover basic mechanisms of disease and …

Ciliary dysfunction leads to a broad range of overlapping phenotypes, collectively termed
ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also …

Cilia are specialized organelles found in most species, wheretheyservediverseroles1.
Inmammals, ciliary dysfunction has been linked to a numberof phenotypes …

Purpose Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We
aim to characterize a large cohort of ciliopathies phenotypically and molecularly. Methods …

Tubulin glutamylation is a post-translational modification that occurs predominantly in the
ciliary axoneme and has been suggested to be important for ciliary function,. However, its …

Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable
progress has been made in understanding the molecular basis of these genetically …