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    1. Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice JID Innovations · 2026
    2. Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg–like Cells, and Common EGFR Somatic Mutations The American Journal of Surgical Pathology · 2021 · 4 citations
    3. Cutaneous gain-of-function mutation of LRIG3 leads to alopecia by upregulation of ERBB, PI3K/AKT, NOTCH1 signaling pathways Scientific Reports · 2026
    4. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    5. iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice PLoS ONE · 2014 · 15 citations
    6. 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR Journal of Investigative Dermatology · 2016
    7. 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa Journal of Investigative Dermatology · 2017 · 2 citations
    8. Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish International Journal of Molecular Sciences · 2025 · 1 citations
    9. Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages Human Molecular Genetics · 2018 · 25 citations
    10. Faculty Opinions recommendation of Hidradenitis suppurativa as a potential subtype of autoinflammatory keratinization disease. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2020
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