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Article

Splicing in the pathogenesis, diagnosis and treatment of ciliopathies.

Biochimica et biophysica acta. Gene regulatory mechanisms - 1 Jan 2000

Wheway Gabrielle, Lord Jenny, Baralle Diana

Abstract excerpt

Primary cilia are essential signalling organelles found on the apical surface of epithelial cells, where they coordinate chemosensation, mechanosensation and light sensation. Motile cilia play a central role in establishing fluid flow in the respiratory tract, reproductive tract, brain ventricles and ear. Genetic defects affecting the structure or function of cilia can lead to a broad range of developmental and...

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Identifiers

PMID: 31698098
DOI: 10.1016/j.bbagrm.2019.194433

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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