TLDR Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
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.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
438 citations
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October 2010 in “Oncogene” Keratins help protect cells, aid in cancer diagnosis, and influence cancer behavior and treatment.
138 citations
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March 2007 in “Experimental cell research” Only a few hair-specific keratins are linked to inherited hair disorders.
169 citations
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May 2006 in “Genes & Development” Keratin 17 is crucial for normal hair growth by regulating hair cycle transitions with TNFα.
53 citations
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September 1999 in “The journal of cell biology/The Journal of cell biology” K16 can partially replace K14 but causes hair loss and skin issues.
1 citations
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July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
70 citations
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January 2014 in “International review of cell and molecular biology” Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
7 citations
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April 2012 in “Biomolecular concepts” Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.
3 citations
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March 2023 in “International journal of molecular sciences” Keratin protein production in cells is controlled by a complex system that changes with cell type, health, and conditions like injury or cancer.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
