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Article

Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.

Human molecular genetics - 17 Oct 2023

Fassad Mahmoud R, Rumman Nisreen, Junger Katrin, Patel Mitali P, Thompson James, Goggin Patricia, Ueffing Marius, Beyer Tina, Boldt Karsten, Lucas Jane S, Mitchison Hannah M

Abstract excerpt

Ciliopathies are inherited disorders caused by defective cilia. Mutations affecting motile cilia usually cause the chronic muco-obstructive sinopulmonary disease primary ciliary dyskinesia (PCD) and are associated with laterality defects, while a broad spectrum of early developmental as well as degenerative syndromes arise from mutations affecting signalling of primary (non-motile) cilia. Cilia assembly and...

Topics

Humans
Biological Transport
Cilia
Ciliopathies
Proteins
Syndrome
Mutation
Thorax
Flagella
Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37555648
DOI: 10.1093/hmg/ddad132
PMCID: PMC10586200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-37555648-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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