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Article

A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia.

Journal of cellular and molecular medicine - 1 Sept 2024

Chen Dongjia, Fan Guoqing, Xu Yan, Luo Peng, Chen Qinyun, Chen Xuren, Guo Zexin, Zhu Xianqing, Gao Yong

Abstract excerpt

Primary ciliary dyskinesia (PCD) is an autosomal recessive genetic disorder characterized by ultrastructural defects in the cilia or flagella of cells, causing respiratory abnormalities, sinusitis, visceral transposition, and male infertility. DNAAF3 plays an important role in the assembly and transportation of axonemal dynein complexes in cilia or flagella and has been shown to be associated with PCD. To date,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39289782
DOI: 10.1111/jcmm.70092
PMCID: PMC11408122

Genes

DNAAF3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia.PMID 39289782Read ↗

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Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.Semantic proximity Read ↗

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A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia.Semantic proximity Read ↗

Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel mutation of DNAAF2Semantic proximity Read ↗

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Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.Semantic proximity Read ↗

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