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Article

Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.

American journal of respiratory cell and molecular biology - 1 Nov 2001

Zariwala M, Noone P G, Sannuti A, Minnix S, Zhou Z, Leigh M W, Hazucha M, Carson J L, Knowles M R

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder caused by abnormal ciliary ultrastructure and function, characterized clinically by oto-sino-pulmonary disease. Mutations in an intermediate chain dynein (DNAI1; IC78) have recently been described in PCD patients, with outer dynein arm (ODA) defects. The aims of the current study were to test for novel DNAI1 mutations in...

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Source

Identifiers

PMID: 11713099
DOI: 10.1165/ajrcmb.25.5.4619

Genes

DNAI1

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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Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.PMID 11713099Read ↗

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Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).Semantic proximity Read ↗

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

Mutations in DNAI1 (IC78) cause primary ciliary dyskinesia.Semantic proximity Read ↗

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.Semantic proximity Read ↗

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