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Article

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

American journal of human genetics - 1 Apr 2001

Guichard C, Harricane M C, Lafitte J J, Godard P, Zaegel M, Tack V, Lalau G, Bouvagnet P

Abstract excerpt

Kartagener syndrome (KS) is a trilogy of symptoms (nasal polyps, bronchiectasis, and situs inversus totalis) that is associated with ultrastructural anomalies of cilia of epithelial cells covering the upper and lower respiratory tracts and spermatozoa flagellae. The axonemal dynein intermediate-chain gene 1 (DNAI1), which has been demonstrated to be responsible for a case of primary ciliary dyskinesia (PCD)...

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Source

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Identifiers

PMID: 11231901
DOI: 10.1086/319511
PMCID: PMC1275621

Genes

DNAI1

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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Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).PMID 11231901Read ↗

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 ↗

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.Semantic proximity Read ↗

Congenital Heart Disease and Other Heterotaxic Defects in a Large Cohort of Patients With Primary Ciliary DyskinesiaSemantic proximity Read ↗

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.Semantic proximity Read ↗

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.Semantic proximity Read ↗

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.Semantic proximity Read ↗

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.Semantic proximity Read ↗

<i>DNAI1</i> Mutations Explain Only 2% of Primary Ciliary DykinesiaSemantic proximity Read ↗

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.Semantic proximity Read ↗

Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener SyndromeSemantic proximity Read ↗

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.Semantic proximity Read ↗

Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.Semantic proximity Read ↗

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