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Article

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

American journal of human genetics - 1 Dec 2009

Loges Niki Tomas, Olbrich Heike, Becker-Heck Anita, Häffner Karsten, Heer Angelina, Reinhard Christina, Schmidts Miriam, Kispert Andreas, Zariwala Maimoona A, Leigh Margaret W, Knowles Michael R, Zentgraf Hanswalter, Seithe Horst, Nürnberg Gudrun, Nürnberg Peter, Reinhardt Richard, Omran Heymut

Abstract excerpt

Genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, randomization of left-right body asymmetry, and, frequently, male infertility in primary ciliary dyskinesia (PCD). The most frequent defects involve outer and inner dynein arms (ODAs and IDAs) that...

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Source

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Identifiers

PMID: 19944400
DOI: 10.1016/j.ajhg.2009.10.018
PMCID: PMC2795801

Genes

DNAH5
DNAI2
DNALI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19944400-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.PMID 19944400Read ↗

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

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.Semantic proximity Read ↗

Transport of the outer dynein arm complex to cilia requires a cytoplasmic protein Lrrc6.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 ↗

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.Semantic proximity Read ↗

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

Mutations in <i>C11ORF70</i> cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to outer and inner dynein arm defectsSemantic proximity Read ↗

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

LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm DefectsSemantic proximity Read ↗

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

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause 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 ↗

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