Evidence map›Paper›PMID 42597893›Full record

ArticleHuman mutation2026

Mutation Severity of

Yanqin Xiao, Yutong He, Lanlan Meng, Huan Zhang, Chaofeng Tu, Yueqiu Tan, Liang Hu

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. Mutation Severity ofHuman mutation · 2026
    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

7 authors.

Yanqin XiaoInstitute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China, csu.edu.cn.
Yutong HeInstitute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China, csu.edu.cn.
Lanlan MengInstitute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China, csu.edu.cn.
Huan ZhangInstitute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China, csu.edu.cn.ORCID https://orcid.org/0009-0000-4102-4680
Chaofeng TuInstitute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China, csu.edu.cn.ORCID https://orcid.org/0000-0001-5682-8948
Yueqiu TanInstitute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China, csu.edu.cn.ORCID https://orcid.org/0000-0002-8359-4654
Liang HuInstitute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Xiangya School of Basic Medical Science, Central South University, Changsha, China, csu.edu.cn.ORCID https://orcid.org/0000-0001-6984-834X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: FBXO43 is a known inhibitor of the anaphase-promoting complex/cyclosome (APC/C), a key E3 ubiquitin ligase that controls meiotic cell cycle progression. However, how different Methods: Two infertile patients carrying distinct compound heterozygous Results: Missense variants (NM_001029860, p.Pro641Leu/p.Arg660Gln) in the macrozoospermia patient allowed completion of meiosis but led to severe sperm head enlargement, chromatin condensation defects, and markedly elevated aneuploidy, resulting in repeated ICSI failure. In contrast, the truncating variants (p.Trp532 Conclusions: Different types of

Indexed as

F-Box ProteinsInfertility, MaleMutationReproductive Techniques, AssistedSpermatogenesisAnaphase-Promoting Complex-CyclosomeAzoospermiaExome SequencingHEK293 CellsHumansMaleMutation, MissensePhenotypeAnaphase-Promoting Complex-CyclosomeF-Box ProteinsaneuploidyAPC/CFBXO43macrozoospermiamale infertility

Identifiers

PMID42597893
PMCPMC13469765

What OpenQuestion holds

Textmetadata
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.