TLDR Mutations in keratin genes can cause skin and mucosa disorders.
The document reviewed the structure and function of keratins, which are structural proteins crucial for maintaining the integrity of keratinocytes. It highlighted that humans have around 30 keratin families, divided into acidic and basic groups, with 54 functional genes coding for them. These keratins are expressed in specific patterns depending on epithelial type and differentiation stage. Mutations in keratin genes were linked to tissue fragility disorders affecting skin and mucosa. Keratins serve as differentiation markers, with antibodies to keratin aiding in diagnostic pathology. The review also focused on keratinization disorders, particularly in the oral cavity, and noted the clinical significance of keratin.
1398 citations
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May 2008 in “Histochemistry and Cell Biology” Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
92 citations
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February 2005 in “Journal of Investigative Dermatology” 
70 citations
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December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
66 citations
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June 2004 in “Biophysical Journal” Hard α-keratin in hair has a unique, nonordered structure, different from other fibers.
686 citations
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February 2002 in “Current Opinion in Cell Biology” Keratin filaments are crucial for cell structure and protection, with ongoing discoveries about their genes and functions.
287 citations
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July 2001 in “Journal of Cell Science” The study found 65 intermediate filament genes, including new keratins, and suggested updating keratin naming.
48 citations
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May 1991 in “The journal of investigative dermatology/Journal of investigative dermatology” Trichohyalin is also found in the outer layers of normal human skin.
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.
1 citations
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July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
1398 citations
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May 2008 in “Histochemistry and Cell Biology” Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
13 citations
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December 2019 in “Nutrients” An apple-based supplement was found to stimulate hair protein production, which may help with hair growth.
15 citations
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May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
