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 GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Human mutation - 1 Aug 2016

Jeanson Ludovic, Thomas Lucie, Copin Bruno, Coste André, Sermet-Gaudelus Isabelle, Dastot-Le Moal Florence, Duquesnoy Philippe, Montantin Guy, Collot Nathalie, Tissier Sylvie, Papon Jean-François, Clement Annick, Louis Bruno, Escudier Estelle, Amselem Serge, Legendre Marie

Abstract excerpt

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by chronic respiratory infections of the upper and lower airways, hypofertility, and, in approximately half of the cases, situs inversus. This complex phenotype results from defects in motile cilia and sperm flagella. Among the numerous genes involved in PCD, very few-including CCDC39 and CCDC40-carry mutations that lead to a...

Read the complete abstract on PubMed

Topics

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

Share to Axoneme
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Genetic Predisposition to Disease

Share to High-Throughput Nucleotide Sequencing

Share to Kartagener Syndrome

Share to Neoplasm Proteins

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 27120127
DOI: 10.1002/humu.23005

Genes

CCDC39
CCDC40

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.PMID 27120127Read ↗

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

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.Semantic proximity Read ↗

CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic CiliaSemantic proximity Read ↗

DRC2/CCDC65 is a central hub for assembly of the nexin-dynein regulatory complex and other regulators of ciliary and flagellar motility.Semantic proximity Read ↗

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.Semantic proximity Read ↗

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.Semantic proximity Read ↗

Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorderSemantic proximity Read ↗

A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.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 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 ↗

Characterization of a DRC1 null variant associated to primary ciliary dyskinesia and female infertilitySemantic 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 ↗

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