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Article

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men.

American journal of human genetics - 6 Sept 2018

Auguste Yasmina, Delague Valérie, Desvignes Jean-Pierre, Longepied Guy, Gnisci Audrey, Besnier Pierre, Levy Nicolas, Beroud Christophe, Megarbane André, Metzler-Guillemain Catherine, Mitchell Michael J

Abstract excerpt

Flagella and motile cilia share a 9 + 2 microtubule-doublet axoneme structure, and asthenozoospermia (reduced spermatozoa motility) is found in 76% of men with primary ciliary dyskinesia (PCD). Nevertheless, causal genetic variants in a conserved axonemal component have been found in cases of isolated asthenozoospermia: 30% of men with multiple morphological anomalies of sperm flagella (MMAF) carry bi-allelic...

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Identifiers

PMID: 30122541
DOI: 10.1016/j.ajhg.2018.07.013
PMCID: PMC6128251

Genes

DNAH1

Variants

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.

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