The ciliary impact of nonciliary gene mutations.

Abstract excerpt

Mutations in genes encoding centriolar or ciliary proteins cause diseases collectively known as 'ciliopathies'. Interestingly, the Human Phenotype Ontology database lists numerous disorders that display clinical features reminiscent of ciliopathies but do not involve defects in the centriole-cilium proteome. Instead, defects in different cellular compartments may impair cilia indirectly and cause additional,...

Topics

• Centrioles
• Cilia
• Ciliopathies
• Humans
• Mutation
• Phenotype