ArticleOrphanet journal of rare diseases2019
Enhanced migration and adhesion of peripheral blood neutrophils from SAPHO patients revealed by RNA-Seq.
Article in Orphanet journal of rare diseases, 2019. 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, 13 citations in OpenAlex.
- How Organ Manifestations Beyond the Bone May Guide Risk Stratification and Treatment Decisions in Chronic Nonbacterial Osteomyelitis.Paediatric drugs · 2026Review
- Can SAPHO syndrome be combined with sinus swelling?Rheumatology advances in practice · 2026Article
- Effect of Low-Dose-Rate Radiation on Cognition and Gene Expression Profiles in Type II Diabetes Mellitus Mouse Model.Molecular neurobiology · 2025Article
- What Is New and What Is Next for SAPHO Syndrome Management: A Narrative Review.Journal of clinical medicine · 2025Review
- Profiles of Circulating Exosomal miRNA in Patients with SAPHO Patients by High-Throughput Sequencing.Combinatorial chemistry & high throughput screening · 2025Article
- Current and future advances in practice: SAPHO syndrome and chronic non-bacterial osteitis (CNO).Rheumatology advances in practice · 2024Review
- The role of cytokines in the pathogenesis of SAPHO syndrome.Frontiers in immunology · 2024Review
- Dermatologic Manifestations of Noninflammasome-Mediated Autoinflammatory Diseases.JID innovations : skin science from molecules to population health · 2023Review
- Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO) Syndrome with Henoch-Schönlein Purpura: A Case Report.Clinical, cosmetic and investigational dermatology · 2023Article
- Integrative Analysis of lncRNA-mRNA Profile Reveals Potential Predictors for SAPHO Syndrome.Frontiers in genetics · 2021Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSAPHO syndrome is a rare disease characterized by inflammatory lesions on skin and bones. Diversified manifestation and inadequate understanding of etiology has limited its diagnosis and treatment. The co-occurrence of other immune-mediated diseases strongly suggests an involvement of autoimmunity in SAPHO syndrome. However, the role of the largest population of circulating immune cells, neutrophils, is still not well explored. In this study, we performed RNA sequencing to profile the mRNA expression of neutrophils purified from peripheral blood of SAPHO patients to identify key genes associated with SAPHO syndrome, trying to find new functional molecules or biomarkers for this rare disease.
resultsA total of 442 differentially expressed genes were identified (p < 0.05, fold change > 2), in which 294 genes were upregulated and 148 genes were downregulated. Five differentially expressed genes of interest were verified by quantitative Real-Time Polymerase Chain Reaction (qRT-PCR), among which S100A12 was upregulated and positively related to high-sensitivity C-reactive protein (hsCRP), while the downregulated gene MYADM was positively related to osteocalcin. Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis showed that differentially expressed genes were enriched in "systemic lupus erythematosus" and "ECM-receptor interaction". Gene ontology (GO) enrichment showed that differentially expressed genes may participate in biological processes such as "cell migration" and "cell adhesion".
conclusionsIn conclusion, this study provides a first insight into transcriptome characteristics of SAPHO syndrome, indicating an over-active neutrophil recruitment in patients and possibly suggesting molecular candidates for further study on diagnosis and pathology of this disease.
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