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Article

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

American journal of human genetics - 1 Dec 1999

Pennarun G, Escudier E, Chapelin C, Bridoux A M, Cacheux V, Roger G, Clément A, Goossens M, Amselem S, Duriez B

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a group of heterogeneous disorders of unknown origin, usually inherited as an autosomal recessive trait. Its phenotype is characterized by axonemal abnormalities of respiratory cilia and sperm tails leading to bronchiectasis and sinusitis, which are sometimes associated with situs inversus (Kartagener syndrome) and male sterility. The main ciliary defect in PCD is an absence of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 10577904
DOI: 10.1086/302683
PMCID: PMC1288361

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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Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.PMID 10577904Read ↗

Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.Semantic proximity Read ↗

Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genesSemantic proximity Read ↗

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

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.Semantic proximity Read ↗

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

<i>C11orf70</i> mutations causing primary ciliary dyskinesia disrupt a conserved step in the intraflagellar transport-dependent assembly of multiple axonemal dyneinsSemantic proximity Read ↗

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.Semantic proximity Read ↗

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Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.Semantic proximity Read ↗

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.Semantic proximity Read ↗

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.Semantic proximity Read ↗

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.Semantic proximity Read ↗

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