September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in hidradenitis suppurativa, the proteins SERPINB3/B4 and S100A7/A8/A9 were significantly overexpressed in lesional skin compared to nonlesional skin, suggesting new pathways in the disease's pathogenesis.
1 citations
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January 2023 in “In vivo/In Vivo” This study suggests that the activation of box A in mesenchymal cell models may enhance stem cell properties, increasing the expression of stemness markers like OCT4, NANOG, and SOX2.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
October 2023 in “Journal of dermatological science” This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
This study found that S1PR1 signaling in mouse aortic endothelial cells varied by location and subtype, influencing inflammatory and lymphangiogenic gene expression through distinct molecular pathways.
March 2021 in “Research Square (Research Square)” This study found that overexpression of the SbbHLH85 gene in sweet sorghum increases root hair growth and Na+ absorption, but negatively affects salt tolerance.
111 citations
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August 2002 in “Journal of Medicinal Chemistry” This study reports that 2-(1-Adamantyl)-4H-thiochromen-4-on-6-O-sulfamate is the most potent steroid sulfatase inhibitor identified so far, exhibiting 170-fold higher activity than the lead compound estrone sulfamate.
2 citations
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May 2022 in “The journal of immunology/The Journal of immunology” In vivo using the C3H mouse model, this study observed that BST2 expression occurs before hair loss in alopecia areata and is followed by an increase in epidermal γδ T cell numbers.
48 citations
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August 2018 in “Nature Communications” This study found that JunB, a transcription factor, is crucial for maintaining epidermal-pilosebaceous stem cell homeostasis by regulating progenitor cell behavior and preventing sebaceous gland dysfunction.
43 citations
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February 1999 in “Biochemical Journal” This study found that transgenic mice overexpressing the SSAT gene under a metallothionein promoter suffered delayed hair loss and were highly sensitive to polyamine analogues, which led to significant liver changes and mortality.
17 citations
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August 2020 in “Stem Cell Research & Therapy” In this study, SIRT1-modified human umbilical cord mesenchymal stem cells reduced peritoneal fibrosis in a rodent model, suggesting potential as a treatment strategy for peritoneal dialysis-induced damage.
20 citations
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December 2013 in “PLoS ONE” This study found that β1 integrin-mediated signaling is crucial for the survival, adhesion, and migration of epithelial progenitor cells in human scalp hair follicles, with varying responses observed among cell subpopulations.
November 2022 in “Journal of Investigative Dermatology” This study found that "early" transit amplifying cells, marked by CD271, are the first keratinocyte stem cell progenitors with distinct features, playing a significant role in early epidermal differentiation and regeneration.
11 citations
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March 2021 in “Molecular Carcinogenesis” This study found that deleting the transcription factor Twist1 in keratinocytes significantly reduced UVB-induced skin carcinogenesis in mice, suggesting a potential target for preventing cutaneous squamous cell carcinoma.
6 citations
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July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
13 citations
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January 2013 in “Applied and Environmental Microbiology” This study found that regio-specific hydroxylation of cyclosporine A in Sebekia benihana is mediated by the cytochrome P450 hydroxylase CYP-sb21, suggesting potential biotechnological applications for hair growth promotion without immunosuppressive effects.
3 citations
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December 2023 in “Aging” In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
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.
8 citations
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September 2017 in “Scientific Reports” This study found that the mitotic arrest deficient protein MAD2B negatively affects TCF4-induced growth and proliferation of dermal papilla cells, which are vital for hair follicle development.
13 citations
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November 2017 in “Neurotoxicity research/Neurotoxicity resarch” This study found that sodium metabisulfite activates sodium channels and increases cellular excitability and excitotoxicity in both cardiomyocyte and neuron models, which exacerbates seizures and neuronal damage in rats.
September 2026 in “Genes & Development” 10 citations
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December 2015 in “International Journal of Dermatology” This study suggests that basal cell carcinoma and trichoblastoma may share differentiation toward the hair follicle, as indicated by strong positivity in CK 15, follistatin, and Bmi‐1 markers.
November 2025 in “Frontiers in Immunology” In this study, researchers found significant links between specific metabolic reprogramming-related genes and alopecia areata risk, highlighting increased SQSTM1 expression in affected hair follicles compared to healthy ones.
89 citations
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May 2005 in “Stem Cells” This study found that keratinocyte stem cells in mouse skin are closely related to side population or BCRP1-positive cells based on their localization and marker expression.
7 citations
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May 2021 in “EBioMedicine” This study observed that aberrant DNA methylation in murine and human cutaneous squamous cell carcinoma likely contributes to the silencing of tumor suppressor genes, notably affecting the FILIP1L gene.
12 citations
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February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
137 citations
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October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.