Evidence map›Paper›PMID 42631111›Full record

ArticleHuman mutation2026

Pathogenic Variants in PET Complex Encoding Genes

Beibei Zhang, Ao Ma, Hongyi Wang, Chong Xie, Shengwei Ke, Ziqi Yu, Haoran Xu, Zhipeng Xu, Zhiran Li, Xun Wang and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Beibei ZhangDepartment of Urology and Andrology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China, zju.edu.cn.ORCID https://orcid.org/0009-0008-2234-1080
Ao MaDepartment of Andrology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China, nju.edu.cn.ORCID https://orcid.org/0009-0000-6644-0461
Hongyi WangDepartment of Urology and Andrology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China, zju.edu.cn.
Chong XieDepartment of Urology and Andrology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China, zju.edu.cn.ORCID https://orcid.org/0009-0004-2794-0016
Shengwei KeDepartment of Urology and Andrology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China, zju.edu.cn.ORCID https://orcid.org/0009-0007-0199-0367
Ziqi YuDepartment of Urology and Andrology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China, zju.edu.cn.ORCID https://orcid.org/0009-0003-5683-9809
Haoran XuDepartment of Urology and Andrology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China, zju.edu.cn.ORCID https://orcid.org/0009-0003-8825-9817
Zhipeng XuDepartment of Andrology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China, nju.edu.cn.
Zhiran LiDepartment of Andrology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China, nju.edu.cn.
Xun WangDepartment of Andrology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China, nju.edu.cn.
Lv YaoAssisted Reproduction Unit, Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China, zju.edu.cn.
Fuxing ZhangAssisted Reproduction Unit, Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China, zju.edu.cn.ORCID https://orcid.org/0009-0002-1397-6005
Lingying JiangAssisted Reproduction Unit, Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China, zju.edu.cn.
Xiaozhi ZhaoDepartment of Andrology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China, nju.edu.cn.ORCID https://orcid.org/0009-0007-6339-6355
Fei SunDepartment of Urology and Andrology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China, zju.edu.cn.ORCID https://orcid.org/0000-0002-0870-8375

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 find candidate pathogenic variants. Sanger sequencing was used to validate the candidate variants. Quantitative reverse-transcript PCR (RT-qPCR) was performed to detect the mRNA expression of Results: We identified eight variants in PET (PIWI-EXD1-TDRD12) complex encoding genes Conclusion: Overall, this study significantly expands the mutational phenotype of PET complex-encoding genes and significantly advances our understanding of spermatogenic failure and male infertility. Our findings provide direct clinical and functional evidence that the function of the PET complex and piRNA biogenesis is highly conserved between humans and mice.

Indexed as

AzoospermiaInfertility, MalePiwi-Interacting RNARNA, Small InterferingAdultAnimalsExome SequencingGenetic Predisposition to DiseaseHumansMaleMutationSpermatogenesisTestisPiwi-Interacting RNARNA, Small InterferingEXD1male infertilitymeiosisPET complexpiRNATDRD12

Identifiers

PMID42631111
PMCPMC13495564

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.