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Article

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.

American journal of respiratory cell and molecular biology - 1 Jul 2005

Horváth Judit, Fliegauf Manfred, Olbrich Heike, Kispert Andreas, King Stephen M, Mitchison Hannah, Zariwala Maimoona A, Knowles Michael R, Sudbrak Ralf, Fekete György, Neesen Juergen, Reinhardt Richard, Omran Heymut

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by chronic infections of the upper and lower airways, randomization of left/right body asymmetry, and reduced fertility. The phenotype results from dysfunction of motile cilia of the respiratory epithelium, at the embryonic node and of sperm flagella. Ultrastructural defects often involve outer dynein arms (ODAs), that are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15845866
DOI: 10.1165/rcmb.2004-0335OC

Genes

DNAL1
DNAH5

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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Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.PMID 15845866Read ↗

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Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.Semantic proximity Read ↗

Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.Semantic proximity Read ↗

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

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

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.Semantic proximity Read ↗

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.Semantic proximity Read ↗

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

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