95 citations
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September 2012 in “Oman Medical Journal” Mutations in keratin genes can cause skin and mucosa disorders.
211 citations
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April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
40 citations
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November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
60 citations
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December 2003 in “Journal of Investigative Dermatology” K6hf is found in specific parts of hair follicles, nails, and tongue, and is linked to hair growth and structure.
189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.