52 citations
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May 1997 in “Journal of Biological Chemistry” This study suggests that polyamines regulate CK2 enzyme activity and its subcellular distribution, as demonstrated in mouse models and cell cultures with elevated levels of ornithine decarboxylase.
3 citations
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June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
August 2019 in “Journal of Investigative Dermatology” This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.
114 citations
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May 2001 in “Development” This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.
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.
15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies KLK14 as a significant factor contributing to hair defects and skin inflammation in a mouse model of Netherton syndrome.
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.
141 citations
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February 1988 in “Molecular and Cellular Biology” This study found that despite strong homology between two K16 genes, only one encoded a functional protein that assembled into keratin filaments in epithelial cells, possibly due to promoter strength differences.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
20 citations
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April 2009 in “Cell Biology International” This study demonstrates that bulge KSCs from hair follicles can transdifferentiate into corneal epithelial-like cells under specific conditions, which could support bioengineered cornea development.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that keratin K2 is crucial for proper keratinocyte structure and function in specific mouse skin areas, and its deficiency leads to cellular aggregates and skin abnormalities.
This study investigated the expression of KRTAP6 gene family in Gansu Alpine fine-wool sheep, finding significant expression during the anagen phase and a negative correlation between KRTAP6-1 and KRTAP6-5 expressions with wool fiber diameter and strength.
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.
21 citations
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January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
July 2025 in “Journal of Investigative Dermatology”
1 citations
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July 2023 in “Cancers” In this multicentric retrospective study, researchers reported that cutaneous adverse events were common among advanced breast cancer patients treated with cyclin-dependent kinase inhibitors (CDK4/6i), generally mild, and manageable with topical treatments, though in some cases, they led to treatment discontinuation.
July 2025 in “Journal of Investigative Dermatology” 7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
In this study, researchers found that the keratin-associated protein 36-1 gene (KRTAP36-1) allele C is linked to variations in mean fibre curvature of fine wool in Chinese Tan lambs, suggesting its role in their distinctive curly coat.
April 2016 in “Journal of Investigative Dermatology” This study found that in mutant NRAS melanoma, MEK inhibitors led to increased AKT signaling and reduced MIG6, a change that may enhance cell migration and invasiveness.
8 citations
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March 2023 in “International Wound Journal” The researchers reported that several m6A-related genes, particularly IGF2BP3, were differentially expressed in keloid tissue compared to normal skin, indicating potential targets for understanding keloid pathogenesis and treatment.
9 citations
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April 1999 in “Mammalian Genome” This study reports that the acidic and basic keratin gene clusters in dogs are located on chromosomes CFA9 and CFA27, respectively, similar to genetic arrangements in humans and mice.
April 2026 in “Tissue Engineering and Regenerative Medicine” This study found that the GPRC6A-Duox1 signaling pathway influences hair cycle progression and testosterone-mediated hair loss in mice, suggesting that disruption of this pathway leads to resistance against testosterone-induced hair loss and longer anagen phase duration.
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.
6 citations
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November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that the gene Dkk4 influences color pattern formation in domestic cat fetuses, and its mutation is linked to the Ticked pattern type.
28 citations
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August 1992 in “Differentiation” This study identified a new 65 kD and 48 kD keratin pair expressed in specific mouse epithelial sites, suggesting a unique evolutionary branch of hair-related keratins.
21 citations
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January 2023 in “International Journal of Molecular Sciences” This review discusses the role and interactions of the calcium-binding protein S100A6 in cellular processes and its association with various diseases, highlighting the need for further research to fully understand its biological impact.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.