3 citations
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January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
87 citations
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September 2012 in “Journal of Cell Science” The document discussed the role of keratins in maintaining tissue resilience and their involvement in various diseases, such as epidermolysis bullosa simplex and other keratinopathies, due to mutations in keratin genes like KRT5 and KRT14. It highlighted the impact of keratin mutations on mechanical resilience, stress responses, and functions like membrane trafficking and pigmentation, with implications for diseases such as inflammatory bowel disease and liver disease. The research informed therapeutic developments, including siRNA trials, and emphasized the challenges and future directions in targeting keratin expression for treatment. Additionally, the study of keratin mutations provided insights into conditions like hair fragility syndrome and pachyonychia congenita, underscoring the need for therapies that address keratin filament dynamics.
12 citations
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February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
3 citations
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October 2022 in “Frontiers in Surgery” Proteomics combined with other technologies can lead to a better understanding of skin diseases.
3 citations
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November 2021 in “Frontiers in Genetics” Certain genes are linked to the quality of cashmere in goats.