Evidence map›Paper›PMID 40457796›Full record

ArticleZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences2025

Effects of a homozygous missense mutation in the

Ruolan Wu, Huilong Li, Pingyun Wu, Qi Yang, Xueting Wan, Yuan Wu

Abstract read
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In one paragraph

Article in Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2025. 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. Review
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

6 authors.

Ruolan WuDepartment of Clinical Laboratory, Third Xiangya Hospital, Central South University, Changsha 410013, China. 228311055@csu.edu.cn.
Huilong LiDepartment of Clinical Laboratory, Third Xiangya Hospital, Central South University, Changsha 410013, China. 218311063@csu.edu.cn.
Pingyun WuDepartment of Clinical Laboratory, Third Xiangya Hospital, Central South University, Changsha 410013, China.
Qi YangDepartment of Clinical Laboratory, Third Xiangya Hospital, Central South University, Changsha 410013, China.
Xueting WanDepartment of Clinical Laboratory, Third Xiangya Hospital, Central South University, Changsha 410013, China.
Yuan WuDepartment of Clinical Laboratory, Third Xiangya Hospital, Central South University, Changsha 410013, China. korchim@126.com.

Funding

the Postgraduate Research and Innovation Project of Central South University (Independent Exploration Category) 228311055
6 · The paper itself

Abstract

objectivesUridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is a progressive neurodegenerative disease associated with homozygous or compound heterozygous missense mutations in the

methodsHuman embryonic kidney 293T (HEK 293T) cells were used to construct wild-type (WT-GNE) and mutant (MUT-GNE)

resultsWestern blotting confirmed successful establishment of

conclusionsThe p.V543M mutation in the

Indexed as

Distal MyopathiesMultienzyme ComplexesMutation, MissenseApoptosisCell AdhesionCell ProliferationHEK293 CellsHomozygoteHumansPhenotypeMultienzyme ComplexesUDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinasecellular phenotypeGNE myopathymitochondriap.V543M mutationsialic aciduridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Identifiers

PMID40457796
PMCPMC13345997

What OpenQuestion holds

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Registered trials

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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.