9 citations
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May 2022 in “Drugs in Context” This report describes the successful use of sonidegib in treating two cases of locally advanced basal cell carcinoma, leading to remission in both instances, and reducing lesions in a patient with Gorlin syndrome, while noting mild side effects consistent with the drug's known profile.
23 citations
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December 2008 in “Pediatric neurology” This study reports two new cases of Gomez-Lopez-Hernandez syndrome and suggests that trigeminal anesthesia and/or partial scalp alopecia may be key criteria for diagnosis.
39 citations
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March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that GLI2 plays a key role in activating follistatin, an activin/BMP antagonist, in response to hedgehog signaling in human epidermal cells, with implications for hair follicle development and basal cell carcinoma.
December 2022 in “Research Square (Research Square)” In this study, the researchers developed a quantum algorithm, QuantAnts machines, which identified complexes of CD9, CD34, and CD74 as potential targets for certain cancers involving the RAS pathway.
3 citations
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January 2022 in “Burns & Trauma” This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.
June 2026 in “Frontiers in Oncology” In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.
10 citations
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March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
12 citations
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July 2015 in “Tissue Antigens” In this study, the AA genotype of C2 polymorphism was more frequently observed in Chinese patients with systemic lupus erythematosus than controls, indicating it may be a risk factor for the disease.
June 2026 in “British Journal of Dermatology” In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.
May 2010 in “Europe PMC (PubMed Central)” This chapter discusses the synthesis and analysis of near-infrared fluorescent activity-based probes for imaging cysteine protease activity, reporting potential benefits for disease diagnosis but noting challenges in imaging specific locations with high cathepsin activity.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.
21 citations
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September 2010 in “Cancer Prevention Research” This study suggests that IGFBP-2 may play a role in basal cell carcinoma development by mediating epidermal progenitor cell expansion in hair follicles with activated Shh signaling.
27 citations
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October 2017 in “British Journal of Dermatology” Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
8 citations
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August 1987 in “The Journal of Dermatology” This study reports that the monoclonal antibody BKN-1 specifically stained basal cell epithelioma cells and certain normal skin structures, indicating a similarity in keratin expression between the tumor and follicular epithelium below the isthmus portion.
March 2026 in “Dermatopathology” This study found that sebaceous gland-derived cutaneous adnexal carcinomas exhibited the highest frequency of genomic alterations compared to other tumor types.
September 2025 in “Experimental & Molecular Medicine” This study observed that the small molecules KY19382 and KY19334 inhibited cancerous traits in human cutaneous squamous cell carcinoma cells by suppressing the Wnt/β-catenin pathway, indicating their potential as treatments for cancers involving CDK1 overexpression and diseases related to CXXC5 accumulation.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
1 citations
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January 2013 This study observed that inducible deletion of the Ugcg gene in mouse epidermis led to a significant reduction in GlcCers and epidermal POS-Cers, causing impaired skin barrier function and delayed wound healing.
January 2007 in “Queen Mary Research Online (Queen Mary University of London)” This study identified interactions between EGF signaling and the GLI proteins in basal cell carcinoma that may contribute to the limited metastasis seen in this skin cancer.
3 citations
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June 2023 in “Modern Pathology” This study found that GLI1 RNA CISH was highly sensitive and specific for distinguishing basal cell carcinoma from nonfollicular epithelial neoplasms but not from most benign follicular tumors.
5 citations
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September 2010 in “Cancer Prevention Research” This perspective discusses Villani et al.'s findings on the role of the IGF regulatory protein Igfbp2 in basal cell carcinogenesis and highlights potential therapeutic and preventive targets, while raising questions about the cell of origin.
11 citations
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April 2021 in “Cancers” This study identified a small molecule that activates GLI1, suppressing neuroblastoma cell growth, which may aid in developing new treatments for high-risk neuroblastoma cases.
July 2026 in “Journal of the American Academy of Dermatology”
3 citations
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April 2020 in “Clinical endocrinology and metabolism journal” This review discusses imaging's role in the diagnosis and management of congenital adrenal hyperplasia and reports no new clinical results; it suggests a potential presentation route via incidental radiologic findings.
7 citations
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September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
September 2006 in “Pediatrics in Review” This case report highlights a 16-year-old girl with primary amenorrhea diagnosed with complete androgen insensitivity syndrome after chromosomal analysis revealed a 46,XY karyotype.
37 citations
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July 2002 in “Archives of Pathology & Laboratory Medicine” The authors concluded that antibodies against tyrosinase and gp100 may be effective in diagnosing melanoma, including challenging variants like amelanotic and desmoplastic types, when appropriate antigen retrieval techniques are used.
7 citations
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April 1992 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The authors concluded that plasma levels of 3α-diolG, ADTG, and DHTG in women with hyperandrogenic disorders primarily reflect adrenal androgen contributions rather than peripheral action, suggesting a potential index for treatment effectiveness.
May 2023 in “The Journal of Immunology” In this study, researchers found that BST2 expression is significantly upregulated in skin sections of mice with alopecia areata, implicating BST2's role in the disease pathogenesis through the action of epidermal γδ T cells and macrophages.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.