April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study analyzed blood samples from individuals with alopecia areata and found that NKG2D+ immune cells, particularly memory-like NK cells, may better correlate with disease activity compared to CD8+ cells, though significant variability among individuals complicates these findings.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
This study found that TLR2 and its ligand CEP are crucial for maintaining hair follicle health and stimulating hair growth, with deficiencies observed in aging and obesity potentially reducing regeneration.
April 2018 in “Journal of Investigative Dermatology” This study found that ERBB2 mutations and amplifications are likely key drivers of extramammary Paget disease, suggesting potential for targeted therapies and cancer immunotherapy due to the moderately high mutational load observed.
December 2021 in “Figshare” This study found that BBS7 is crucial for maintaining Shh signaling and periodontal ligament homeostasis, with occlusal hypofunction leading to its downregulation and impacting cell migration and angiogenesis.
77 citations
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January 1980 in “Carcinogenesis” This study found that TPA was significantly more effective than mezerein in inducing dark basal keratinocytes in mouse skin, which may be important in early tumor promotion stages.
November 2025 in “The Journal of Immunology” In this study, researchers observed elevated levels of epidermal γδ T cells, keratinocytes, and an upregulation of the BST2 gene among immune cells in C3H/HeJ mice with alopecia areata, suggesting a potential role in disease pathogenesis.
8 citations
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April 2009 in “International journal of oncology” This study found that bulge-derived keratinocytes from human follicles were more resistant to differentiation compared to epidermal keratinocytes, possibly due to WIF-1 involvement.
2 citations
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May 2008 in “Journal of Clinical Oncology” This study found that patients with unresectable melanoma treated with AZD6244 experienced skin reactions, including depigmentation and papulopustular rashes, in patterns similar to those caused by EGFR inhibitors.
176 citations
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February 2006 in “Cancer Research” This study found that loss of Ptch1 function in mouse skin's basal cells is sufficient to rapidly induce tumors resembling human basal cell carcinoma, suggesting Ptch1 as a key tumor suppressor.
121 citations
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December 2001 in “American Journal of Dermatopathology” This study found that trichoblastomas and nodular basal cell carcinomas have similar cytokeratin expression patterns, indicating differentiation towards the outer root sheath epithelium.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, researchers analyzed skin tumors from patients with CYLD cutaneous syndrome and found that loss of CYLD function is linked to changes in cellular signaling pathways, particularly NF-κB signaling, and leads to increased secretion of specific extracellular matrix proteins.
4 citations
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May 2021 in “The American Journal of Surgical Pathology” This study suggests that cutaneous lymphadenoma is a distinct benign lymphoepithelial tumor characterized by androgen receptor expression, hair follicle stem cell markers, and common EGFR gene mutations.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers reported that IL-17C plays a key pro-inflammatory role in human skin diseases and may be a promising therapeutic target for inflammatory skin conditions.
April 2023 in “Journal of Investigative Dermatology” This study found that ALRN-6924 effectively protected human hair follicles from cyclophosphamide-induced damage in an ex vivo setting, suggesting it may reduce both acute and permanent chemotherapy-induced alopecia.
January 2019 in “11th World congress for hair research” April 2010 in “Cancer Research” This study found that altering CDK4 expression in mice affects the population of keratinocyte stem cells, suggesting a correlation with susceptibility to skin papillomas.
This research observed that EGFR activity appears to maintain hair follicle quiescence and immune privilege, and its inhibition may lead to stem cell apoptosis and scarring alopecia during inflammation.
3 citations
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May 2019 in “BMJ case reports” This report describes a rare case of severe combined immunodeficiency caused by a FOXN1 gene variant, complicated by Epstein-Barr virus infection and high-grade B-cell lymphoma, leading to the infant's death despite treatment efforts.
1 citations
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March 2004 in “Journal of the American Academy of Dermatology” This study discusses two cases of acneiform skin eruptions associated with the use of the EGFR inhibitor ZD1839 in prostate cancer treatment, emphasizing the need for dermatologists to be aware of potential skin reactions.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, suggesting its downregulation in occlusal hypofunction affects cell migration and angiogenesis.
April 2021 in “Journal of Investigative Dermatology” 8 citations
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January 2017 in “Journal of Biological Chemistry” This study found that astrotactin-2 undergoes unique intramembrane proteolysis during maturation, revealing specific transmembrane topologies and substrate sequence requirements for cleavage.
15 citations
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September 2009 in “European Journal of Histochemistry” This study found that CD90+ cells, resembling mesenchymal stem cells, are abundantly present in the lower part of anagen hair follicles in dogs.
September 2002 in “Oncology Times” This study presented at the ASCO Annual Meeting reported that the epidermal growth factor receptor antibody ABX-EGF showed preliminary efficacy in renal cell cancer patients, with tolerable side effects, while bortezomib demonstrated clinical benefit in a significant proportion of multiple myeloma patients.
November 2022 in “Journal of Investigative Dermatology” This study implicates EGFR as a critical regulator of immune privilege and stem cell quiescence in hair follicles, suggesting a link between EGFR inhibition and inflammation-driven hair loss during cancer therapy.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.