Transcriptional data analysis reveals the association between infantile hemangiomas and venous malformations.

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:36338963", "kind": "science-record", "revision": 5, "content_hash": "sha256:d26ef815b9d9bab07a3c44c4098f6746070aa979610e057eded2496a0f8948f4", "created_at": "2026-11-01T18:15:46Z", "updated_at": "2026-11-01T22:50:32Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Transcriptional data analysis reveals the association between infantile hemangiomas and venous malformations.", "doi": "10.3389/fgene.2022.1045244", "pmid": "36338963", "authors": ["Biao Huang", "Ping Zhang", "Yuan-Yuan Zhong", "Kuan Wang", "Xiao-Ming Chen", "Dao-Jiang Yu"], "journal": "Frontiers in genetics", "year": 2022, "abstract": "Background: Infantile hemangiomas (IH) and venous malformations (VM) are the most common types of vascular abnormalities that seriously affect the health of children. Although there is evidence that these two diseases share some common genetic changes, the underlying mechanisms need to be further studied. Methods: The microarray datasets of IH (GSE127487) and VM (GSE7190) were downloaded from GEO database. Extensive bioinformatics methods were used to investigate the common differentially expressed genes (DEGs) of IH and VM, and to estimate their Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways. Trough the constructing of protein-protein interaction (PPI) network, gene models and hub genes were obtained by using Cytoscape and STRING. Finally, we analyzed the co-expression and the TF-mRNA-microRNA regulatory network of hub genes. Results: A total of 144 common DEGs were identified between IH and VM. Functional analysis indicated their important role in cell growth, regulation of vasculature development and regulation of angiogenesis. Five hub genes (CTNNB1, IL6, CD34, IGF2, MAPK11) and two microRNA (has-miR-141-3p, has-miR-150-5p) were significantly differentially expressed between IH and normal control (p < 0.05). Conclusion: In conclusion, our study investigated the common DEGs and molecular mechanism in IH and VM. Identified hub genes and signaling pathways can regulate both diseases simultaneously. This study provides insight into the crosstalk of IH and VM and obtains several biomarkers relevant to the diagnosis and pathophysiology of vascular abnormalities.", "claims": [{"id": "claim-method", "statement": "Differentially expressed mRNA between infantile hemangiomas (IH) patients and normal skin patients were identified using Limma package of R software.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:36338963", "locator": "sections[4] \"Analysis of DEGs\" paragraph 2", "quote": "Differentially expressed mRNA between infantile hemangiomas (IH) patients and normal skin patients were identified using Limma package of R software."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The original contributions presented in the study are included in the article/Supplementary Material, further inquiries can be directed to the corresponding authors.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:36338963", "locator": "sections[20] \"Data availability statement\" paragraph 2", "quote": "The original contributions presented in the study are included in the article/Supplementary Material, further inquiries can be directed to the corresponding authors."}], "state": "complete"}, {"id": "claim-target-result", "statement": "The study identified 144 common differentially expressed genes between infantile hemangiomas and venous malformations.", "kind": "qualitative", "target": null, "evidence": [{"asset": "source:pmid:36338963", "locator": "sections[12] \"Identification of common DEGs\" paragraph 2", "quote": "Through the intersection of the Venn diagram, we obtained 144 overlapped DEGs (107 upregulated and 37 downregulated) in GSE127487 and GSE7190 (Figure 2C)."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": "The study identified 144 common differentially expressed genes between infantile hemangiomas and venous malformations.", "steps": [{"id": "read_published_estimate", "order": 1, "name": "Read the published estimate from the source", "kind": "other", "state": "complete", "blocked_on": null, "description": "The claim, method and evidence span published with the source article.", "duration_hours": null, "parameters": {}, "inputs": ["source:pmid:36338963"], "outputs": ["the published estimate and its evidence"], "instruments": [], "reagents": []}, {"id": "obtain_source_data", "order": 2, "name": "Obtain the source data from the named repository", "kind": "data-preparation", "state": "complete", "blocked_on": null, "description": "The GEO series accession resolves and its sample accessions are listed. This lane did not download the dataset or read its licence.", "duration_hours": null, "parameters": {}, "inputs": ["data:geo:GSE127487"], "outputs": ["the source data with its repository provenance"], "instruments": [], "reagents": []}, {"id": "run_analysis", "order": 3, "name": "Run the published analysis", "kind": "analysis", "state": "complete", "blocked_on": null, "description": "Apply the paper's statistical method to the resolved series and compare the result with the published target.", "duration_hours": null, "parameters": {}, "inputs": ["data:geo:GSE127487"], "outputs": ["the replicated result and its comparison"], "instruments": [], "reagents": []}], "materials": [], "instruments": [], "reagents": [], "conditions": {}, "gaps": []}, "data": {"state": "partial", "assets": [{"id": "source:pmid:36338963", "role": "manuscript", "format": "xml", "media_type": "application/xml", "uri": "https://doi.org/10.3389/fgene.2022.1045244", "sha256": 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