Genes and molecular pathways underpinning ciliopathies.
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ABSTRACT:
SUBMITTER: Reiter JF
PROVIDER: S-EPMC5851292 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Publications
Genes and molecular pathways underpinning ciliopathies.
Reiter Jeremy F JF Leroux Michel R MR
Nature reviews. Molecular cell biology 20170712 9
Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The dysfunction of cilia causes diseases known as ciliopathies. The number of reported ciliopathies (currently 35) is increasing, as is the number of established (187) and candidate (241) ciliopathy-associated genes. The characterization of ciliopathy-associated proteins and phenotypes has improved our knowledge of ciliary functions. In particular, investigating ciliopathies has helped us to understand the molecular ...[more]
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