Evidence mapPaperPMID 40986145Full record

SynthesisTranslational stroke research2025

Differentially Expressed Genes and Biological Pathways in Moyamoya Disease: A Systematic Review and Meta-analysis of Transcriptomic Studies.

Yunru Chen, Hao Xing Lai, Eda Liew, Teng Hiang Heng, Megan B Ng, Vijay Kumar Sharma, Raymond C S Seet, Poh San Lai, Shaun S E Loong, Benjamin Y Q Tan

Abstract readSystematic ReviewMeta-Analysis
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In one paragraph

Synthesis in Translational stroke research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
field-weighted citation impact
1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Yunru ChenDepartment of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Hao Xing LaiDepartment of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Eda LiewDepartment of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Teng Hiang HengDepartment of Laboratory Medicine, National University Hospital, Singapore, Singapore.
Megan B NgDivision of Neurology, Department of Medicine, National University Hospital, Singapore, Singapore.
Vijay Kumar SharmaDepartment of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Raymond C S SeetDepartment of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Poh San LaiDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Shaun S E LoongCardiovascular-Metabolic Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Benjamin Y Q TanDepartment of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. ben.tan@nus.edu.sg.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Moyamoya disease (MMD) is a chronic cerebrovascular disorder characterised by the progressive stenosis of bilateral internal carotid arteries, predominantly affecting East Asian populations. Recent advances in RNA expression studies have provided insights into the molecular underpinnings of MMD. This study aims to aggregate transcriptomic data to identify the top differentially expressed genes (DEGs) across published studies and elucidate biological pathways associated with MMD. We conducted a systematic search of the PubMed and Embase databases, identifying 15 transcriptomic studies involving RNA transcriptome-wide analyses of 177 MMD patients. Following preprocessing of significantly upregulated and downregulated Genes, we performed biological pathway enrichment analysis to identify DEGs between MMD patients and control. Additionally, Gene-transcription factor and Gene-drug interaction analyses were conducted to explore potential therapeutic repurposing. Our analysis revealed 98 upregulated and 37 downregulated DEGs (Bonferroni-adjusted p-values < 0.05) significantly associated with MMD. In peripheral blood cells (PBCs), upregulated pathways were predominantly associated with mitotic kinetochore assembly and response to axon injury, while downregulated pathways were linked to cellular response to brain-derived neurotrophic factor (BDNF) and extracellular matrix organization. In vascular tissues, mitotic pathways were notably upregulated, whereas the regulation of cell proliferation and blood circulation pathways were suppressed. Gene-drug interaction analysis highlighted MI-773 and MLN 8237 as potential MMD therapy. This study identifies distinct biological pathways that are dysregulated in key tissues of MMD patients. Given the current limited treatment options for MMD, our findings offer potential biomarkers for risk stratification and novel therapeutic targets that could pave the way for improved management of this debilitating disease.

Indexed as

Moyamoya DiseaseTranscriptomeGene Expression ProfilingHumansSignal TransductionGeneticsIntracranial stenosisMoyamoyaRNF213StrokeTranscriptomics

Identifiers

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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 Socratic graph.