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

doi:10.1016/j.ajhg.2013.07.009

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Article

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

American journal of human genetics - 8 Aug 2013

Moore Daniel J, Onoufriadis Alexandros, Shoemark Amelia, Simpson Michael A, zur Lage Petra I, de Castro Sandra C, Bartoloni Lucia, Gallone Giuseppe, Petridi Stavroula, Woollard Wesley J, Antony Dinu, Schmidts Miriam, Didonna Teresa, Makrythanasis Periklis, Bevillard Jeremy, Mongan Nigel P, Djakow Jana, Pals Gerard, Lucas Jane S, Marthin June K, Nielsen Kim G, Santoni Federico, Guipponi Michel, Hogg Claire, Antonarakis Stylianos E, Emes Richard D, Chung Eddie M K, Greene Nicholas D E, Blouin Jean-Louis, Jarman Andrew P, Mitchison Hannah M

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a ciliopathy characterized by airway disease, infertility, and laterality defects, often caused by dual loss of the inner dynein arms (IDAs) and outer dynein arms (ODAs), which power cilia and flagella beating. Using whole-exome and candidate-gene Sanger resequ...

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Identifiers

PMID: 23891471
DOI: 10.1016/j.ajhg.2013.07.009
PMCID: PMC3738835

Genes

ZMYND10

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23891471-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.PMID 23891471Read ↗

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.Semantic proximity Read ↗

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.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 ↗

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 ↗

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.Semantic proximity Read ↗

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

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

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 ↗

<i>C11orf70</i> mutations causing primary ciliary dyskinesia disrupt a conserved step in the intraflagellar transport-dependent assembly of multiple axonemal dyneinsSemantic proximity Read ↗

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

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