Cilia are complex structures that have garnered interest because of their roles in vertebrate
development and their involvement in human genetic disorders. In contrast to multicellular …

The last decade has witnessed an explosion in the identification of genes, mutations in
which appear sufficient to cause clinical phenotypes in humans. This is especially true for …

Cilia and flagella are found on the surface of a strikingly diverse range of cell types. These
intriguing organelles, with their unique and highly adapted protein transport machinery …

Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal
malformation and the most common form of syndromic neural tube defect (NTD). To date …

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 …

Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent
infections of the upper and lower respiratory tract, reduced fertility in males and situs …

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS
genes have been cloned, they explain only 40–50% of the total mutational load. Here we …

Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are
ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by …

Despite rapid advances in the identification of genes involved in disease, the predictive
power of the genotype remains limited, in part owing to poorly understood effects of second …

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