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Article

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.

American journal of human genetics - 10 Jan 2013

Onoufriadis Alexandros, Paff Tamara, Antony Dinu, Shoemark Amelia, Micha Dimitra, Kuyt Bertus, Schmidts Miriam, Petridi Stavroula, Dankert-Roelse Jeanette E, Haarman Eric G, Daniels Johannes M A, Emes Richard D, Wilson Robert, Hogg Claire, Scambler Peter J, Chung Eddie M K, Pals Gerard, Mitchison Hannah M

Abstract excerpt

Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right laterality disturbances, usually as a result of loss of the outer dynein arms (ODAs) that power cilia/flagella beating. Here, we identify loss-of-function mutations in CCDC114 causing PCD with laterality malformations involving complex heart defects. CCDC114 is...

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PMID: 23261303
DOI: 10.1016/j.ajhg.2012.11.002
PMCID: PMC3542455

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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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Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.PMID 23261303Read ↗

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.Semantic proximity Read ↗

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

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.Semantic proximity Read ↗

Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.Semantic proximity Read ↗

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.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 ↗

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 ↗

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.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 ↗

Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesiaSemantic proximity Read ↗

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

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.Semantic proximity Read ↗

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