{
  "abstract": "Pediatric bone marrow failure (BMF) comprises heterogeneous inherited and immune-mediated disorders, yet many cases remain genetically unclassified despite comprehensive genomic evaluation. To identify shared transcriptional features beyond protein-coding variants, we performed total RNA sequencing on bone marrow samples from pediatric patients with BMF (n=12) and controls (n=2). Based on whole-genome sequencing, patients were stratified into genetically defined BMF (g-BMF, n=4) and genetically undefined BMF (u-BMF, n=8). Comparative transcriptomic analyses revealed minimal differences in protein-coding genes and long non-coding RNAs (lncRNAs) between g-BMF and u-BMF, indicating strong transcriptional concordance. Compared with controls, 55.2% of differentially expressed protein-coding genes were shared between g-BMF and u-BMF and were predominantly upregulated. Pathway enrichment analyses consistently identified immune activation and cellular stress-response pathways, suggesting a shared inflammatory transcriptional state across pediatric BMF irrespective of genetic classification. lncRNA profiling showed that 69.6% of differentially expressed lncRNAs were common to both BMF groups. ATP1A1-AS1, USP3-AS1, and SNHG32 were reproducibly overexpressed and validated by real-time quantitative polymerase chain reaction. Correlation-based pathway analyses associated ATP1A1-AS1 and USP3-AS1 with immune-related and biosynthetic programs, whereas SNHG32 showed a distinct co-expression pattern. Collectively, these findings suggest shared coding and non-coding transcriptomic patterns in pediatric BMF that appear largely independent of genetic classification within this cohort.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Laboratory Medicine, College of Medicine, Incheon St. Mary’s Hospital, The Catholic University of Korea",
    "Department of Pediatrics, Catholic Hematology Hospital, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea",
    "Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 8,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Jaeeun Yoo"
    },
    {
      "affs": [
        1
      ],
      "name": "Jae Wook Lee"
    },
    {
      "affs": [
        1
      ],
      "name": "Nack-Gyun Chung"
    },
    {
      "affs": [
        1
      ],
      "name": "Jae Won Yoo"
    },
    {
      "affs": [
        2
      ],
      "name": "Yonggoo Kim"
    },
    {
      "affs": [
        2
      ],
      "name": "Myungshin Kim"
    },
    {
      "affs": [
        2
      ],
      "name": "Hyunjoo Bae"
    },
    {
      "affs": [
        2
      ],
      "name": "Jong-Mi Lee"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/csvzr61xjne70.bib",
  "cited_by": 0,
  "doi": "10.1038/s41598-026-68248-5",
  "fulltext_url": "https://doi.org/10.1038/s41598-026-68248-5",
  "id": "csvzr61xjne70",
  "issns": [
    "2045-2322"
  ],
  "landing_url": "https://doi.org/10.1038/s41598-026-68248-5",
  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "lcc",
      "Q"
    ],
    [
      "lcc",
      "R"
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    [
      "openalex",
      "1311|Blood disorders and treatments"
    ]
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  "openalex": "W7151537860",
  "pdf_url": "https://www.nature.com/articles/s41598-026-68248-5_reference.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-08-01",
  "publisher": "Nature Portfolio",
  "ris": "https://research.draconitic.com/paper/csvzr61xjne70.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T13:45:58Z",
      "native_id": "9e2379155ee947b18a7b918f550522a7",
      "source": "doaj",
      "url": "https://doi.org/10.1038/s41598-026-68248-5"
    }
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  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Blood disorders and treatments",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Integrative transcriptomic profiling reveals convergent coding and non-coding signatures in pediatric bone marrow failure syndromes",
  "title_text": "Integrative transcriptomic profiling reveals convergent coding and non-coding signatures in pediatric bone marrow failure syndromes",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T13:45:58Z",
  "url": "https://research.draconitic.com/paper/csvzr61xjne70",
  "venue": "Scientific Reports",
  "versions": []
}