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Article

Pathogenic Variants in PET Complex Encoding Genes TDRD12 and EXD1 Impair piRNA Biogenesis and Cause Male Infertility.

Human mutation - 1 Jan 2026

Zhang Beibei, Ma Ao, Wang Hongyi, Xie Chong, Ke Shengwei, Yu Ziqi, Xu Haoran, Xu Zhipeng, Li Zhiran, Wang Xun, Yao Lv, Zhang Fuxing, Jiang Lingying, Zhao Xiaozhi, Sun Fei

Abstract excerpt

Background: Nonobstructive azoospermia (NOA), the most severe form of male infertility, has approximately 30% of its cases attributed to genetic factors. However, current genetic research only explains a small fraction of NOA cases. Methods: Here, 156 infertile Chinese patients diagnosed with idiopathic male infertility were recruited. Whole exome sequencing and subsequent bioinformatic analysis were performed to...

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Share to Azoospermia
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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: 42631111
DOI: 10.1155/humu/7629729
PMCID: PMC13495564

Genes

TDRD12
EXD1

Provenance

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenic Variants in PET Complex Encoding Genes TDRD12 and EXD1 Impair piRNA Biogenesis and Cause Male Infertility.PMID 42631111Read ↗

Loss of Different Domains of TDRD12 Leads to Distinct Male Infertility-Related Phenotypes.Semantic proximity Read ↗

Investigation of piwi-interacting RNA pathway genes role in idiopathic non-obstructive azoospermia.Semantic proximity Read ↗

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Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertilitySemantic proximity Read ↗

Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermiaSemantic proximity Read ↗

TENT5D disruption causes oligoasthenoteratozoospermia and male infertility.Semantic proximity Read ↗

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TDRD6 is associated with oligoasthenoteratozoospermia by sequencing the patient from a consanguineous family.Semantic proximity Read ↗

Exome sequencing and functional analyses revealedCETN1variants leads to impaired cell division and male fertilitySemantic proximity Read ↗

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