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Article

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).

Cytogenetics and cell genetics - 1 Jan 2000

Maiti A K, Bartoloni L, Mitchison H M, Meeks M, Chung E, Spiden S, Gehrig C, Rossier C, DeLozier-Blanchet C D, Blouin J, Gardiner R M, Antonarakis S E

Abstract excerpt

The transcription factor FOXJ1 (alias HFH-4 or FKHL13) of the winged-helix/forkhead family is expressed in cells with cilia or flagella, and seems to be involved in the regulation of axonemal structural proteins. The knockout mouse Foxj1(-/-) shows abnormalities of organ situs, consistent with random determination of left-right asymmetry, and a complete absence of cilia. The human FOXJ1 gene which maps to...

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Identifiers

PMID: 11060460
DOI: 10.1159/000015645

Genes

FOXJ1

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.

Related research

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No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).PMID 11060460Read ↗

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Mutations in the <i>DNAH11</i> (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesiaSemantic proximity Read ↗

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).Semantic proximity Read ↗

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Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype.Semantic proximity Read ↗

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