14 citations
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March 2016 in “Mechanisms of Development” This study found that BNC2 is critical for hair follicle regeneration and other developmental processes, as Bnc2−/− mice exhibit incomplete hair follicle development and developmental defects, and BNC1 cannot substitute for BNC2.
8 citations
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June 2023 in “European Journal of Endocrinology” This study identified serum androsterone as a robust biomarker for monitoring response to AKR1C3 inhibitor treatment in women and found that a 4-week administration of aldo-keto reductase 1C3 inhibitors did not impact ovarian function.
27 citations
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December 2013 in “Endocrinology” This study established a mouse model for Cushing's syndrome due to a specific Crh mutation, which may help explore the effects of glucocorticoid excess and evaluate treatments for corticosteroid-induced osteoporosis.
12 citations
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June 2001 in “Bioorganic & Medicinal Chemistry” This study found that octahydrobenzo[c]quinolizin-3-one derivatives, particularly compound 3, were potent and selective inhibitors of the enzyme 5α-reductase type 1.
98 citations
,
March 2019 in “Frontiers in immunology” This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.
37 citations
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June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
8 citations
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March 2014 in “American Journal of Pathology” This study found that hairless mice with homozygous mutations developed significantly more aggressive basal cell carcinomas and a heightened inflammatory response to UVB exposure compared to their haired littermates.
72 citations
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November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
2 citations
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May 2019 in “International Journal of Molecular Sciences” This study suggests that in gp91phox-knockout mice, tranexamic acid administration led to brown hair by increasing MGRN1 and collagen XVII levels, while the retention of black hair appears to rely on the gp91phox/ROS/IL-1β/TGF-β pathway.
April 2023 in “Journal of Investigative Dermatology” In this study, topical inhibition of casein kinase 1 in mice was found to enhance melanocyte precursor migration and eumelanin production, suggesting potential applications for treating vitiligo and graying hair through KitL/c-Kit signaling pathway activation.
42 citations
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September 2012 in “PLoS ONE” In this study, bezafibrate treatment improved certain aging-like features in a mouse model with mitochondrial dysfunction, but did not enhance muscle function or lifespan.
24 citations
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January 2023 in “Cancer Research” This study suggests that activating AMPK to phosphorylate ZDHHC13 may enhance MC1R function and reduce melanoma risk in individuals with red hair.
93 citations
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September 2014 in “Diabetes” This study found that male 5αR1 knockout mice and obese Zucker rats treated with finasteride showed increased insulin resistance and hepatic steatosis, potentially implicating 5α-reductase activity in metabolic liver disease development.
15 citations
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June 2011 in “Journal of Investigative Dermatology” This study found that overexpressing the 14-3-3σ protein in transgenic mice reduced keratinocyte proliferation and migration, leading to thinner epidermis and fewer hair follicles due to IGF-1 pathway inhibition.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.
April 2017 in “Journal of Investigative Dermatology” In this study, CTCF was found to play essential roles in epidermal differentiation and skin barrier formation, simultaneously acting as a suppressor of epithelial inflammatory responses in mouse skin.
July 2024 in “Journal of Investigative Dermatology” This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.
10 citations
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January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
17 citations
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February 2015 in “Cell Death and Disease” This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
July 2024 in “Journal of Investigative Dermatology” Brepocitinib improves cicatricial alopecia and reduces key immune markers.
40 citations
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July 1981 in “Journal of Neuropathology & Experimental Neurology” In this study, brindled mutant mice with clinical features similar to kinky hair syndrome showed marked improvement and prevention of neuronal degeneration after receiving cupric chloride injections, with timing of administration being crucial.
195 citations
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November 2001 in “The Journal of Cell Biology” This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.
In this study, deleting the -catenin gene in vitamin D receptor-null mice did not prevent tumor development, suggesting -catenin's predicted protective role was not observed.
14 citations
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November 2015 in “Annals of the New York Academy of Sciences” This review discusses dietary manipulation strategies in a mouse model of CBS deficiency and reports no new results; the authors emphasize the importance of understanding gene-diet interactions.
September 1999 in “Molecular Carcinogenesis” This study reported that overexpressing ornithine decarboxylase in C57Bl/6 mice increased their sensitivity to tumor promotion by TPA, a change reversible by doxycycline treatment.
October 2023 in “Regular and Young Investigator Award Abstracts” This study found that Baricitinib significantly reduced hair loss and immune response in a mouse model of alopecia areata.
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.
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.
30 citations
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June 1993 in “The Journal of Cell Biology” This study found that transgenic mice expressing a mutant E1a oncoprotein in their skin had disturbed hair follicle maturation but did not show increased tumor development or proliferation.