2026-04-14T02:29:26Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1789872025-12-04T19:32:59Zcom_2072_1057col_2072_478908col_2072_478917

00925njm 22002777a 4500 dc Lovera, Marta author Lüders, Jens author 2021-07-12T11:25:16Z 2022-06-25T05:10:21Z 2021-06-25 2021-07-12T10:23:20Z 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, nonciliopathy phenotypes. This phenotypic heterogeneity, perhaps combined with the field's centriole–cilium-centric view, may have hindered the recognition of ciliary contributions. Identifying these diseases and dissecting how the underlying gene mutations impair cilia not only will add to our understanding of cilium assembly and function but also may open up new therapeutic avenues. Mutació (Biologia) Microtúbuls Fenotip Mutation (Biology) Microtubules Phenotype The ciliary impact of nonciliary gene mutations