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CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.

Clinical genetics - 1 Mar 2024

Jreijiri Fadwa, Cavarocchi Emma, Amiri-Yekta Amir, Cazin Caroline, Hosseini Seyedeh-Hanieh, El Khouri Elma, Patrat Catherine, Thierry-Mieg Nicolas, Ray Pierre F, Dulioust Emmanuel, Whitfield Marjorie, Touré Aminata

Abstract excerpt

Sperm flagella share an evolutionary conserved microtubule-based structure with motile cilia expressed at the surface of several cell types, such as the airways epithelial cells. As a result, male infertility can be observed as an isolated condition or a syndromic trait, illustrated by Primary Cilia Dyskinesia (PCD). We report two unrelated patients showing multiple morphological abnormalities of the sperm...

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PMID: 37975235
DOI: 10.1111/cge.14459

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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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CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.PMID 37975235Read ↗

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

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

Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse.Semantic proximity Read ↗

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

Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertilitySemantic proximity Read ↗

CCDC113 stabilizes sperm axoneme and head-tail coupling apparatus to ensure male fertilitySemantic proximity Read ↗

CCDC113 stabilizes sperm axoneme and head-tail coupling apparatus to ensure male fertilitySemantic proximity Read ↗

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

The Genetic Defects of N-DRC in Male Infertility.Semantic proximity Read ↗

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