53 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews extensive genetic polymorphisms in the keratin-associated proteins of human hair, indicating complexity but reporting no new clinical results and calls for further research on their potential impact on hair structure.
4 citations
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January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the KLHL24-ΔN28 protein variant disrupts hair follicle stem cells in a mouse model, leading to premature hair loss by degrading keratin 15.
74 citations
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September 2003 in “The Journal of Immunology” This study found that PKCα activation in transgenic mice induces keratinocyte apoptosis and mediates neutrophilic skin inflammation via different pathways, suggesting potential mechanisms for cutaneous inflammatory diseases.
8 citations
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September 2017 in “Journal of Investigative Dermatology” This study found that inhibiting the interaction between CXXC5 and Dishevelled could stimulate hair regrowth in mouse models by enhancing WNT/β-catenin signaling, suggesting a potential therapeutic strategy for hair loss involving compounds that block this interaction, such as interfering short peptides.
19 citations
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January 2015 in “Development” This study found that misexpression of Hoxc8 in mice led to ectopic mammary development and suggests Hox genes may play crucial roles in the regional specification and initiation of cutaneous accessory organs.
17 citations
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February 2015 in “Experimental Dermatology” This report expands the known genetic mutations linked to monilethrix by identifying new patients with KRT83 mutations, confirming its role as a causative gene for this hair disorder.
August 1994 in “Molecular Endocrinology” This study found that AtT-20 pituitary cells with higher cAMP-dependent kinase activity had larger calcium currents and significantly increased beta-endorphin release compared to cells with lower kinase activity.
33 citations
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May 2018 in “Stem Cell Reports” This study demonstrates that Krt15 marks long-lived, multipotent, and injury-resistant crypt cells in the small intestine, which may serve as the cell of origin in intestinal cancer.
40 citations
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November 2021 in “International Journal of Molecular Sciences” This review highlights the role of keratin mutations in epidermolysis bullosa simplex and the resulting chronic inflammation, but it presents no new experimental findings.
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.
20 citations
,
May 2007 in “Asian-Australasian Journal of Animal Sciences” This study found that polymorphisms in the KAP8.2 gene in Chinese Inner Mongolia cashmere goats are associated with variations in cashmere fibre diameter, suggesting its potential as a molecular marker for this trait.
November 2023 in “Advanced Science” A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
9 citations
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June 2014 in “Molecular biology reports” KAP9.2 and Hoxc13 genes are important for cashmere growth and vary in activity during different stages.
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.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.
January 1999 in “Journal of Investigative Dermatology”
16 citations
,
July 2019 in “Journal of Cellular Biochemistry” This review discusses the varied roles of Wnt7a in development, tissue homeostasis, and cancer, reporting no clinical results; the authors emphasize the need for further investigation on its roles in inflammation and fibrosis.
1 citations
,
August 2024 in “Transgenic Research” In this study, the researchers observed that inducing and then withdrawing β-catenin expression in a bigenic mouse model caused reversible changes in skin morphology, indicating dependence on β-catenin signaling.
March 2026 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that mice lacking both vitamin D and calcium-sensing receptors in epidermal keratinocytes are predisposed to developing squamous cell carcinoma as they age, due to impaired oxidative stress response and reduced DNA repair capabilities.
96 citations
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March 2007 in “Developmental biology” This study found that the Wnt inhibitor Dkk4 may play a role in regulating hair follicle development through a feedback loop with canonical Wnt signaling pathways.
July 2025 in “Journal of Investigative Dermatology” 1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
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.
18 citations
,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” In this mouse study, hair growth defects associated with the Gk5 null allele were partially alleviated by simvastatin treatment, suggesting GK5 plays a key role in skin-specific cholesterol regulation.
14 citations
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April 2016 in “PloS one” This study found that the promoter region of the sheep KRTAP11-1 gene drives specific transcriptional activity in wool follicles, suggesting it may regulate hair keratinocyte specificity.
November 2022 in “Journal of Investigative Dermatology” Among men with androgenetic alopecia, this study found that taking 5 mg of KX-826 twice daily significantly increased hair count compared to a placebo, with the treatment being well-tolerated and no serious adverse effects reported.
November 2022 in “Journal of Investigative Dermatology” This study provides evidence that ILC1-like cells can induce alopecia areata in previously healthy human hair follicles, challenging the view that it is solely an autoantigen-dependent autoimmune disease.
33 citations
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September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.