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Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development

23 Nov 2023

Abstract excerpt

Male infertility is a worldwide population health concern. Asthenoteratozoospermia is a common cause of male infertility, but its etiology remains incompletely understood. No evidence indicates the relevance of CFAP52 mutations to human male infertility. Our whole-exome sequencing identified compound heterozygous mutations in CFAP52 recessively cosegregating with male infertility status in a non-consanguineous...

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PMID: 38126872
DOI: 10.7554/elife.92769

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella developmentPMID 38126872Read ↗

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella developmentSemantic proximity Read ↗

The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in miceSemantic proximity Read ↗

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Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermiaSemantic proximity Read ↗

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