November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.
April 2017 in “Journal of Investigative Dermatology” This study found that PRC1 plays crucial roles in skin epithelial stem cell regulation, with catalytic and non-catalytic functions impacting epidermal integrity, hair development, and Merkel cell dynamics in murine models.
67 citations
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December 1990 in “The journal of cell biology/The Journal of cell biology” This study identified two evolutionarily conserved ultra-high-sulfur keratin proteins in human and sheep hair follicles, which are specifically expressed in the hair cuticle during the late stages of fiber development.
April 2016 in “Journal of Investigative Dermatology” This study suggests that dsRNA may enhance KRT9 expression in palm and sole skin through β-catenin signaling, potentially linking mechanical damage to specific skin features and certain skin conditions.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
This article discusses the role of epimorphin as a key morphoregulator for various epithelial cells in tubulogenesis and reports no experimental results on its signaling pathways.
11 citations
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September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
63 citations
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November 2009 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that the subtilisin protease Sub3 from Microsporum canis is essential for adherence to the feline epidermis but is not necessary for invading epidermal structures.
January 2024 in “Animals” This study suggests that the transcription factors SP1 and KROX20 regulate CUX1 gene's effect on the proliferation of ovine dermal papilla cells in vitro.
February 2020 in “Definitions” This article discusses the human KRT72 wild-type allele's role in hair formation and reports no new research findings.
This study found that the simultaneous inactivation of pRb and p53 genes in mouse epidermis accelerated aggressive squamous cell carcinoma development via activation of the epidermal growth factor receptor/Akt pathway.
This study found that Mdm2 is critical for limiting p53 activity to maintain normal stem cell function in mouse skin, with impacts on tissue homeostasis and aging.
87 citations
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March 2017 in “Journal of Clinical Investigation” In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
12 citations
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May 2003 in “Journal of dermatological science” This study found that the heat shock cognate protein Hsc70 was differentially expressed by dihydrotestosterone treatment in SV40-transformed dermal papilla cells, suggesting its involvement in androgen action on these cells.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study in mice suggests that defects in hair follicles with mesenchymal TSC2 disruption may result from an impaired TGFβ1 response, indicating a potential novel treatment approach for tuberous sclerosis complex.
July 2022 in “British Journal of Dermatology”
42 citations
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July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.
June 2025 in “Proceedings of the National Academy of Sciences” In this study, a mouse model with a PIK3CA gain-of-function mutation in Schwann cells revealed unique communication with neighboring cells and a glycolytic shift in peripheral nerves, and early alpelisib treatment significantly improved symptoms, though efficacy declined with delayed administration due to limited drug penetration.
This study suggests that skin tumor cells in tuberous sclerosis complex may promote hamartoma morphogenesis by expressing and releasing higher levels of cathepsin B.
22 citations
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July 1998 in “Journal of Investigative Dermatology” This study identified and characterized a gene called 4C32, which is expressed in the periderm of embryonic mouse skin and has a structure similar to keratin-associated proteins.
52 citations
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July 2011 in “PubMed” This review discusses the diverse roles of the TRPS1 gene in regulating cartilage, kidney, and hair follicle development, highlighting its functions and interactions, but provides no new experimental results.
4 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
48 citations
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April 2008 in “Human Molecular Genetics” This study found that although progerin expression in mouse skin causes significant nuclear shape changes in keratinocytes, it does not result in alopecia or common skin abnormalities seen in human Hutchinson–Gilford progeria syndrome.
January 1964 in “OSTI OAI (U.S. Department of Energy Office of Scientific and Technical Information)” This study found that platelet-secreted chemokines like CXCL7 are crucial for early neutrophil recruitment and efficient muscle regeneration in injured mice.
24 citations
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February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.
1 citations
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October 2022 in “Biomedicines” This study found that Prdm1 is crucial for whisker development in mice, affecting multiple signaling pathways and possibly playing a role in primates' evolutionary loss of vibrissae.
52 citations
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June 1991 in “Journal of Virology” In this study, researchers found that the ability of hamster polyomavirus to cause lymphoid tumors in Syrian hamsters may be linked to its association with the tyrosine kinase p59fyn.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” In this study using Xenopus laevis embryos, reduced levels of the desmosomal protein desmoplakin led to defects in epidermal and cardiac structures, suggesting its crucial role in tissue integrity.