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Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice.

Zoological research - 18 Sept 2024

Ye Jing-Wei, Abbas Tanveer, Zhou Jian-Teng, Chen Jing, Yang Meng-Lei, Huang Xiong-Heng, Zhang Huan, Ma Hui, Ma Ao, Xu Bo, Murtaza Ghulam, Shi Qing-Hua, Shi Bao-Lu

Abstract excerpt

Infertility represents a significant health concern, with sperm quantity and quality being crucial determinants of male fertility. Oligoasthenoteratozoospermia (OAT) is characterized by reduced sperm motility, lower sperm concentration, and morphological abnormalities in sperm heads and flagella. Although variants in several genes have been implicated in OAT, its genetic etiologies and pathogenetic mechanisms...

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Asthenozoospermia
Codon, Nonsense
Homozygote
Infertility, Male
Microtubule-Associated Proteins

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PMID: 39245651
DOI: 10.24272/j.issn.2095-8137.2024.019
PMCID: PMC11491774

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice.PMID 39245651Read ↗

Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.Semantic proximity Read ↗

Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouseSemantic proximity Read ↗

CCDC157 is essential for sperm differentiation and shows oligoasthenoteratozoospermia-related mutations in men.Semantic proximity Read ↗

Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouseSemantic proximity Read ↗

Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.Semantic proximity Read ↗

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CCDC146 is required for sperm flagellum biogenesis and male fertility in miceSemantic proximity Read ↗

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Loss-of-function variant in TEX44 cause male infertility with asthenoteratozoospermia in humans and miceSemantic proximity Read ↗

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