Evidence map›Paper›PMID 34184986›Full record

ArticleeLife2021

5'-UTR SNP of

Xingyu Pan, Jingrong Zhao, Zhiying Zhou, Jijun Chen, Zhenxing Yang, Yuxuan Wu, Meizhu Bai, Yang Jiao, Yun Yang, Xuye Hu and 16 more

Open access · goldAbstract read
In one paragraph

Article in eLife, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
1.5field-weighted citation impact, top 18% 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

17 citing papers in PubMed, 27 citations in OpenAlex.

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  5. A New Class of Pathogenic Non-Coding Variants in GLA.International journal of molecular sciences · 2026
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  6. Potential impact of two functional variants in theCaspian journal of internal medicine · 2026
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  10. Review
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  13. Review
  14. Article
  15. Predicting heterosisFrontiers in plant science · 2023
    Article
  16. Article
  17. A Single-Nucleotide Polymorphism in the Promoter of PorcineFrontiers in cell and developmental biology · 2022
    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

26 authors at 5 institutions in 1 country.

Xingyu Pan *Institute of Neuroscience and State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.ORCID 0000-0001-9588-5830
Jingrong Zhao *Institute of Neuroscience and State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Zhiying ZhouShanghai Clinical Center, Chinese Academy of Sciences/Xu-Hui Central Hospital, Shanghai, China.
Jijun ChenShanghai Brain-Intelligence Project Center, Shanghai, China.
Zhenxing YangShanghai Clinical Center, Chinese Academy of Sciences/Xu-Hui Central Hospital, Shanghai, China.
Yuxuan WuState Key Laboratory of Cell Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China.
Meizhu BaiState Key Laboratory of Cell Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China.
Yang JiaoSchool of Life Science and Technology, Shanghai Tech University, Shanghai, China.
Yun YangCAS-MPG Partner Institute for Computational Biology, Chinese Academy of Sciences, Shanghai, China.
Xuye HuShanghai Brain-Intelligence Project Center, Shanghai, China.
Tianling ChengInstitute of Neuroscience and State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Qianyun LuCAS-MPG Partner Institute for Computational Biology, Chinese Academy of Sciences, Shanghai, China.
Bin WangShanghai Brain-Intelligence Project Center, Shanghai, China.
Chang-Lin LiShanghai Brain-Intelligence Project Center, Shanghai, China.
Ying-Jin LuShanghai Brain-Intelligence Project Center, Shanghai, China.
Lei DiaoState Key Laboratory of Cell Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China.
Yan-Qing ZhongInstitute of Neuroscience and State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Jing PanShanghai Brain-Intelligence Project Center, Shanghai, China.
Jianmin ZhuShanghai Clinical Center, Chinese Academy of Sciences/Xu-Hui Central Hospital, Shanghai, China.
Hua-Sheng XiaoShanghai Clinical Center, Chinese Academy of Sciences/Xu-Hui Central Hospital, Shanghai, China.
Zi-Long QiuInstitute of Neuroscience and State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Jinsong LiState Key Laboratory of Cell Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China.ORCID 0000-0003-3456-662X
Zefeng WangCAS-MPG Partner Institute for Computational Biology, Chinese Academy of Sciences, Shanghai, China.
Jingyi HuiState Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China.
Lan BaoState Key Laboratory of Cell Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, China.ORCID 0000-0001-9269-9565
Xu ZhangInstitute of Neuroscience and State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.ORCID 0000-0002-9617-6590
Chinese Academy of Sciences · CNShanghai Xuhui Central Hospital · CNCenter for Excellence in Brain Science and Intelligence Technology · CNShanghai Center for Brain Science and Brain-Inspired Technology · CNShanghaiTech University · CN

Funding

Chinese Academy of Sciences QYZDY-SSW-SMC007Chinese Academy of Sciences XDB39000000Chinese Academy of Sciences XDPB1005National Natural Science Foundation of China 31630033National Natural Science Foundation of China 31991194Science and Technology Commission of Shanghai Municipality 18JC1420301
6 · The paper itself

Abstract

The congenital intellectual disability (ID)-causing gene mutations remain largely unclear, although many genetic variations might relate to ID. We screened gene mutations in Chinese Han children suffering from severe ID and found a single-nucleotide polymorphism (SNP) in the 5'-untranslated region (5'-UTR) of fibroblast growth factor 13 (FGF13) mRNA (NM_001139500.1:c.-32c>G) shared by three male children. In both HEK293 cells and patient-derived induced pluripotent stem cells, this SNP reduced the translation of FGF13, which stabilizes microtubules in developing neurons. Mice carrying the homologous point mutation in 5'-UTR of

Indexed as

Point MutationPolymorphism, Single Nucleotide5' Untranslated RegionsAdolescentAnimalsChildChild, PreschoolFibroblast Growth FactorsHEK293 CellsHumansIntellectual DisabilityLearningMaleMemoryMiceMice, Inbred C57BL5' Untranslated Regionsfibroblast growth factor 13Fibroblast Growth Factors5'-untranslated regionfibroblast growth factor 13humanIntellectual disabilitymouseneurosciencepolypyrimidine-tract-binding protein 2protein translationsingle-nucleotide polymorphism

Identifiers

PMID34184986
PMCPMC8241442
OpenAlexW3176209307

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.