Identification of the Role of Wnt/β-Catenin Pathway Through Integrated Analyses and in vivo Experiments in Vitiligo.

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:34511958", "kind": "science-record", "revision": 6, "content_hash": "sha256:6b07260416eceb7d306827ee0e53edff9f47a4d08c2ae78c98b1f30d2ceac711", "created_at": "2026-11-01T15:41:51Z", "updated_at": "2026-11-01T22:04:41Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Identification of the Role of Wnt/β-Catenin Pathway Through Integrated Analyses and in vivo Experiments in Vitiligo.", "doi": "10.2147/CCID.S319061", "pmid": "34511958", "authors": ["Si-Jia Zhao", "Hong Jia", "Xiu-Lian Xu", "Wen-Bo Bu", "Qian Zhang", "Xi Chen", "Juan Ji", "Jian-Fang Sun"], "journal": "Clinical, cosmetic and investigational dermatology", "year": 2021, "abstract": "PURPOSE: Vitiligo is an acquired depigmentation skin disease, which affects an average of 1% of the world's population. The purpose of this study is to identify the key genes and pathways responsible for vitiligo and find new therapeutic targets.\nMETHODS: The datasets GSE65127, GSE53146, and GSE75819 were downloaded from the Gene Expression Omnibus (GEO) database. R language was used to identify the differentially expressed genes (DEGs) between lesional skin of vitiligo and non-lesional skin. Next, the key pathways were obtained by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses. The protein-protein interaction (PPI) networks were conducted by STRING database and Cytoscape software. Subsequently, module analysis was performed by Cytoscape. Among these results, the Wnt/β-catenin pathway and melanogenesis pathway caught our attention. The expression level of β-catenin, microphthalmia-associated transcription factor (MITF) and tyrosinase (TYR) was detected by immunofluorescence in vitiligo lesions and healthy skin. Moreover, zebrafish was treated with XAV-939, an inhibitor of the Wnt/β-catenin pathway. After that, the area of melanin granules as a percentage of the head area was measured. The mRNA expression of β-catenin, lymphoid-enhancing factor 1(lef1), tyr and mitf were detected by q-PCR (quantitative polymerase chain reaction) in zebrafish (Danio rerio).\nRESULTS: A total of 2442 DEGs were identified, including 1068 upregulated and 1374 downregulated DEGs. The key pathways were identified by GO and KEGG analyses, such as \"NOD-like receptor signaling pathway\", \"Wnt signaling pathway\", \"Melanogenesis\", \"mTOR signaling pathway\", \"PI3K-Akt signaling pathway\", \"Calcium signaling pathway\" and \"Rap1 signaling pathway\". The immunofluorescence results showed that the level of β-catenin, MITF and TYR was significantly downregulated in vitiligo lesional skin. In zebrafish, the mean percentage area of melanin granules and the expression of β-catenin, lef1, tyr and mitf were decreased after treated with XAV-939.\nCONCLUSION: The present study identified key genes and signaling pathways associated with the pathophysiology of vitiligo. Among them, the Wnt/β-catenin pathway played an essential role in pigmentation and could be a breakthrough point in vitiligo treatment.", "claims": [{"id": "claim-method", "statement": "For two groups, data were analyzed by unpaired t-test and presented as mean ± SD.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:34511958", "locator": "sections[11] \"Statistical Analyses\" paragraph 2", "quote": "For two groups, data were analyzed by unpaired t-test and presented as mean ± SD."}], "state": "complete"}, {"id": "claim-data-access", "statement": "Ultimately, three microarray datasets of vitiligo (GSE75819, GSE53146, GSE65127) were selected. The control groups were normal skin samples from healthy volunteers (in the GSE53146 and GSE65127 datasets) or non-lesional skin from vitiligo patients (in the GSE75819 dataset). Both the series matrix and platform TXT files were downloaded from the GEO database.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:34511958", "locator": "sections[3] \"Microarray Data Collection\" paragraph 2", "quote": "Ultimately, three microarray datasets of vitiligo (GSE75819, GSE53146, GSE65127) were selected. The control groups were normal skin samples from healthy volunteers (in the GSE53146 and GSE65127 datasets) or non-lesional skin from vitiligo patients (in the GSE75819 dataset). 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This lane did not download the dataset or read its licence.", "duration_hours": null, "parameters": {}, "inputs": ["data:geo:GSE53146"], "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:GSE53146"], "outputs": ["the replicated result and its comparison"], "instruments": [], "reagents": []}], "materials": [], "instruments": [], "reagents": [], "conditions": {}, "gaps": []}, "data": {"state": "partial", "assets": [{"id": "source:pmid:34511958", "role": "manuscript", "format": "xml", "media_type": "application/xml", "uri": "https://doi.org/10.2147/CCID.S319061", "sha256": "sha256:cd5a2b1a04a4b4886d09c5fa985f9a9c3a79c6e465dd597c5c7b08250f6c3c9c", "bytes": 48753, "access": "open", "state": "resolved", "reader": null, "reader_status": "reader_required", "identifier": "10.2147/CCID.S319061", "version": null, "note": "Full article fetched from PMC; the checksum covers the rendered section body, not the original XML bytes.", "structure": {"pmcid": "PMC8423189", "source": "europe_pmc_fulltext", "coverage": "whole_body", "text_hash_scope": "rendered_section_body"}}, {"id": "data:geo:GSE53146", "role": "raw", "format": "geo-series", "media_type": "application/vnd.ncbi.geo-series+json", "uri": "https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE53146", "sha256": null, "bytes": null, "access": "open", "state": "resolved", "reader": null, "reader_status": "reader_required", "identifier": "GSE53146", "version": null, "note": "Ultimately, three microarray datasets of vitiligo (GSE75819, GSE53146, GSE65127) were selected. 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