Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

Single nucleotide polymorphisms (SNPs) that cluster in the first intron of fat mass and
obesity associated (FTO) gene are associated obesity traits in genome-wide association …

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The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …

The primary cilium has recently stepped into the spotlight, as a flood of data show that this
organelle has crucial roles in vertebrate development and human genetic diseases. Cilia …

Cilia are plasma membrane protrusions that act as cellular propellers or antennae. To
perform these functions, cilia must maintain a composition distinct from those of the …

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 …

Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …