Evidence map›Paper›PMID 42902727›Full record

ReviewZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2026

[Spliceosome defects and neurodevelopmental disorders].

Xiao-Zhen Huang, Hong Chen, Rui-Min Chen

Abstract readReviewEnglish Abstract
PubMed Full text at PMC Publisher
In one paragraph

Review in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

3 authors.

Xiao-Zhen HuangDepartment of Endocrinology, Genetics and Metabolism, Fuzhou First General Hospital Affiliated to Fujian Medical University (Fuzhou Children's Hospital of Fujian), Fuzhou 350005, China.
Hong ChenDepartment of Endocrinology, Genetics and Metabolism, Fuzhou First General Hospital Affiliated to Fujian Medical University (Fuzhou Children's Hospital of Fujian), Fuzhou 350005, China.
Rui-Min ChenDepartment of Endocrinology, Genetics and Metabolism, Fuzhou First General Hospital Affiliated to Fujian Medical University (Fuzhou Children's Hospital of Fujian), Fuzhou 350005, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The spliceosome is the core molecular machinery for RNA splicing, and its dysfunction can disrupt gene expression programs during neurodevelopment. With the widespread application of whole-genome sequencing, transcriptome sequencing, and long-read sequencing, the spectrum of spliceosome-related neurodevelopmental disorders has been continuously expanding. This review summarizes the genetic features, clinical phenotypes, and molecular mechanisms of pathogenic variants at three levels of the spliceosome: small nuclear RNAs, small nuclear ribonucleoproteins, and spliceosome assembly/regulatory factors. It further discusses tissue selectivity and phenotypic heterogeneity of spliceosome-related disorders, and highlights emerging research strategies and advances in RNA-targeted therapies, with the aim of informing mechanistic exploration and clinical research.

Indexed as

Neurodevelopmental DisordersSpliceosomesHumansRibonucleoproteins, Small NuclearRNA, Small NuclearRNA SplicingRibonucleoproteins, Small NuclearRNA, Small NuclearNeurodevelopmental disorderPre-mRNA splicingSmall nuclear ribonucleoproteinSmall nuclear RNASpliceosome

Identifiers

PMID42902727
PMCPMC13684104

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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.