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Article

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.

American journal of human genetics - 3 May 2018

Fassad Mahmoud R, Shoemark Amelia, le Borgne Pierrick, Koll France, Patel Mitali, Dixon Mellisa, Hayward Jane, Richardson Charlotte, Frost Emily, Jenkins Lucy, Cullup Thomas, Chung Eddie M K, Lemullois Michel, Aubusson-Fleury Anne, Hogg Claire, Mitchell David R, Tassin Anne-Marie, Mitchison Hannah M

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characterized by destructive respiratory disease and laterality abnormalities due to randomized left-right body asymmetry. PCD is mostly caused by mutations affecting the core axoneme structure of motile cilia that is essential for movement. Genes that cause PCD when mutated include a group that encode proteins essential...

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Identifiers

PMID: 29727692
DOI: 10.1016/j.ajhg.2018.03.024
PMCID: PMC5986720

Genes

IFT46

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.PMID 29727692Read ↗

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