ArticleOrphanet journal of rare diseases2023
Single-cell sequencing analysis of peripheral blood in patients with moyamoya disease.
Article in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 11 citations in OpenAlex.
- Single-cell transcriptomic profiling of peripheral blood mononuclear cells reveals monocyte heterogeneity in patients with Moyamoya disease.Orphanet journal of rare diseases · 2026Article
- Cognitive dysfunction in type 1 diabetes: role of TREM2 in microglial activation and Aβ pathology.Journal of neuroinflammation · 2026Article
- Single-Cell Transcriptome Profiling Reveals Dynamic Cell Populations and Immune Infiltration in Moyamoya Disease.Journal of the American Heart Association · 2025Article
- Genome-Wide DNA Methylation Profiling Reveals Low Methylation Variability in Moyamoya Disease.Translational stroke research · 2025Article
- Integrative molecular subtyping and diagnostic model construction for Moyamoya disease based on diverse programmed cell death gene patterns.Orphanet journal of rare diseases · 2025Article
- Recent Advances in Genetics of Moyamoya Disease: Insights into the Different Pathogenic Pathways.International journal of molecular sciences · 2025Review
- Single-cell sequencing in molecular diagnostics: Transformative yet untapped potential.Frontiers in genetics · 2025Review
- Mass cytometry revealed the circulating immune cell landscape across different Suzuki stages of Moyamoya disease.Immunologic research · 2024Article
- RNA Sequencing in Disease Diagnosis.Annual review of genomics and human genetics · 2024Review
- Endoplasmic Reticulum Membrane Protein Complex Regulates Cancer Stem Cells and is Associated with Sorafenib Resistance in Hepatocellular Carcinoma.Journal of hepatocellular carcinoma · 2024Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAt present, the etiology of moyamoya disease is not clear, and it is necessary to explore the mechanism of its occurrence and development. Although some bulk sequencing data have previously revealed transcriptomic changes in Moyamoya disease, single-cell sequencing data has been lacking.
methodsTwo DSA(Digital Subtraction Angiography)-diagnosed patients with moyamoya disease were recruited between January 2021 and December 2021. Their peripheral blood samples were single-cell sequenced. CellRanger(10 x Genomics, version 3.0.1) was used to process the raw data, demultiplex cellular barcodes, map reads to the transcriptome, and dowm-sample reads(as required to generate normalized aggregate data across samples). There were 4 normal control samples, including two normal samples GSM5160432 and GSM5160434 of GSE168732, and two normal samples of GSE155698, namely GSM4710726 and GSM4710727. Weighted co-expression network analysis was used to explore the gene sets associated with moyamoya disease. GO analysis and KEGG analysis were used to explore gene enrichment pathways. Pseudo-time series analysis and cell interaction analysis were used to explore cell differentiation and cell interaction.
resultsFor the first time, we present a peripheral blood single cell sequencing landscape of Moyamoya disease, revealing cellular heterogeneity and gene expression heterogeneity. In addition, by combining with WGCNA analysis in public database and taking intersection, the key genes in moyamoya disease were obtained. namely PTP4A1, SPINT2, CSTB, PLA2G16, GPX1, HN1, LGALS3BP, IFI6, NDRG1, GOLGA2, LGALS3. Moreover, pseudo-time series analysis and cell interaction analysis revealed the differentiation of immune cells and the relationship between immune cells in Moyamoya disease.
conclusionsOur study can provide information for the diagnosis and treatment of moyamoya disease.
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