Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

Nature genetics - 1 Feb 2002

Olbrich Heike, Häffner Karsten, Kispert Andreas, Völkel Alexander, Volz Andreas, Sasmaz Gürsel, Reinhardt Richard, Hennig Steffen, Lehrach Hans, Konietzko Nikolaus, Zariwala Maimoona, Noone Peadar G, Knowles Michael, Mitchison Hannah M, Meeks Maggie, Chung Eddie M K, Hildebrandt Friedhelm, Sudbrak Ralf, Omran Heymut

Abstract excerpt

Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the affected offspring have situs inversus (reversed organs), which results from randomization of left-right (LR) asymmetry. We previously localized to chromosome 5p a PCD locus containing DNAH5, which encodes a protein highly similar...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Body Patterning
Share to Cilia

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

Share to Dyneins

Share to Kartagener Syndrome

Share to Molecular Motor Proteins

Share to Mutation

Source

Identifiers

PMID: 11788826
DOI: 10.1038/ng817

Genes

DNAH5

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.PMID 11788826Read ↗

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.Semantic proximity Read ↗

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

Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.Semantic proximity Read ↗

A clinical case of primary ciliary dyskinesia in a child under one year old with a pathogenic genetic variant of the DNAH5 gene described for the first timeSemantic proximity Read ↗

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.Semantic proximity Read ↗

DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation.Semantic proximity Read ↗

Primary ciliary dyskinesia: Clinical presentation, diagnosis and geneticsSemantic proximity Read ↗

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.Semantic proximity Read ↗

Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report.Semantic proximity Read ↗

Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.Semantic proximity Read ↗

Ciliary defects and genetics of primary ciliary dyskinesia.Semantic proximity Read ↗

Next-Generation Sequencing-Based Copy Number Variation Analysis in Chinese Patients with Primary Ciliary Dyskinesia Revealed Novel DNAH5 Copy Number VariationsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.