Evidence map›Paper›PMID 36647821›Full record

ArticleThe Journal of clinical investigation2023

Karyopherin α deficiency contributes to human preimplantation embryo arrest.

Wenjing Wang, Yoichi Miyamoto, Biaobang Chen, Juanzi Shi, Feiyang Diao, Wei Zheng, Qun Li, Lan Yu, Lin Li, Yao Xu and 22 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of clinical investigation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
5.1field-weighted citation impact, top 4% of its field
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

16 citing papers in PubMed, 33 citations in OpenAlex.

  1. Heterozygous Nonsense Mutation in the Nuclear Transport FactorInternational journal of molecular sciences · 2026
    Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. International journal of molecular sciences · 2025
    Article
  7. Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024
    Review
  8. Review
  9. Article
  10. Article
  11. Novel PATL2 variants cause female infertility with oocyte maturation defect.Journal of assisted reproduction and genetics · 2024
    Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. 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

32 authors at 12 institutions in 3 countries.

Wenjing WangInstitute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Key Laboratory of Medical Epigenetics, Fudan University, Shanghai, China.
Yoichi MiyamotoLaboratory of Nuclear Transport Dynamics, National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Japan.
Biaobang ChenNHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China.
Juanzi ShiReproductive Medicine Center, Northwest Women's and Children's Hospital, Xi'an, China.
Feiyang DiaoReproductive Medicine Center, Jiangsu Province Hospital, Jiangsu, China.
Wei ZhengClinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China.
Qun LiInstitute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Key Laboratory of Medical Epigenetics, Fudan University, Shanghai, China.
Lan YuReproductive Medicine Center, Henan Provincial People's Hospital, Zhengzhou, China.
Lin LiKey Laboratory of Human Reproduction and Genetics, Department of Reproductive Medicine, Nanchang Reproductive Hospital, Nanchang, China.
Yao XuShanghai Key Laboratory of Maternal Fetal Medicine, Clinical and Translational Research Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
Ling WuReproductive Medicine Center, Shanghai Ninth Hospital, Shanghai Jiao Tong University, Shanghai, China.
Xiaoyan MaoReproductive Medicine Center, Shanghai Ninth Hospital, Shanghai Jiao Tong University, Shanghai, China.
Jing FuShanghai Ji'ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, and.
Bin LiReproductive Medicine Center, Shanghai Ninth Hospital, Shanghai Jiao Tong University, Shanghai, China.
Zheng YanReproductive Medicine Center, Shanghai Ninth Hospital, Shanghai Jiao Tong University, Shanghai, China.
Rong ShiReproductive Medicine Center, Northwest Women's and Children's Hospital, Xi'an, China.
Xia XueReproductive Medicine Center, Northwest Women's and Children's Hospital, Xi'an, China.
Jian MuInstitute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Key Laboratory of Medical Epigenetics, Fudan University, Shanghai, China.
Zhihua ZhangInstitute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Key Laboratory of Medical Epigenetics, Fudan University, Shanghai, China.
Tianyu WuInstitute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Key Laboratory of Medical Epigenetics, Fudan University, Shanghai, China.
Lin ZhaoNHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China.
Weijie WangInstitute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Key Laboratory of Medical Epigenetics, Fudan University, Shanghai, China.
Zhou ZhouInstitute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Key Laboratory of Medical Epigenetics, Fudan University, Shanghai, China.
Jie DongInstitute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Key Laboratory of Medical Epigenetics, Fudan University, Shanghai, China.
Qiaoli LiInstitute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Key Laboratory of Medical Epigenetics, Fudan University, Shanghai, China.
Li JinState Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.
Lin HeBio-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.
Xiaoxi SunShanghai Ji'ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, and.
Ge LinClinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China.
Yanping KuangReproductive Medicine Center, Shanghai Ninth Hospital, Shanghai Jiao Tong University, Shanghai, China.
Lei WangInstitute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Key Laboratory of Medical Epigenetics, Fudan University, Shanghai, China.
Qing SangInstitute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Shanghai Key Laboratory of Medical Epigenetics, Fudan University, Shanghai, China.
Children's Hospital of Fudan University · CNShanghai Jiao Tong University · CNNorthwest Women's and Children's Hospital · CNReproductive & Genetic Hospital CITIC-Xiangya · CNShanghai Institute of Pharmaceutical Industry · CNShangHai JiAi Genetics & IVF Institute · CNFudan University · CNHenan Provincial People's Hospital · CNJiangsu Province Hospital · CNNational Institute of Biomedical Innovation, Health and Nutrition · JPReproductive Science Center · USShanghai First Maternity and Infant Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Preimplantation embryo arrest (PREMBA) is a common cause of female infertility and recurrent failure of assisted reproductive technology. However, the genetic basis of PREMBA is largely unrevealed. Here, using whole-exome sequencing data from 606 women experiencing PREMBA compared with 2,813 controls, we performed a population and gene-based burden test and identified a candidate gene, karyopherin subunit α7 (KPNA7). In vitro studies showed that identified sequence variants reduced KPNA7 protein levels, impaired KPNA7 capacity for binding to its substrate ribosomal L1 domain-containing protein 1 (RSL1D1), and affected KPNA7 nuclear transport activity. Comparison between humans and mice suggested that mouse KPNA2, rather than mouse KPNA7, acts as an essential karyopherin in embryonic development. Kpna2-/- female mice showed embryo arrest due to zygotic genome activation defects, recapitulating the phenotype of human PREMBA. In addition, female mice with an oocyte-specific knockout of Rsl1d1 recapitulated the phenotype of Kpna2-/- mice, demonstrating the vital role of substrate RSL1D1. Finally, complementary RNA (cRNA) microinjection of human KPNA7, but not mouse Kpna7, was able to rescue the embryo arrest phenotype in Kpna2-/- mice, suggesting mouse KPNA2 might be a homologue of human KPNA7. Our findings uncovered a mechanistic understanding for the pathogenesis of PREMBA, which acts by impairing nuclear protein transport, and provide a diagnostic marker for PREMBA patients.

Indexed as

alpha KaryopherinsPregnancy ProteinsActive Transport, Cell NucleusAnimalsBlastocystFemaleHumansKaryopherinsMiceOocytesPregnancyRibosomal Proteinsalpha KaryopherinsKaryopherinsPregnancy ProteinsRibosomal ProteinsRSL1D1 protein, humanFertilityGenetic diseasesGeneticsPopulation geneticsReproductive Biology

Identifiers

PMID36647821
PMCPMC9843055
OpenAlexW4316661432

What OpenQuestion holds

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LicenceCC BY
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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.