TLDR Mutations in keratin genes cause cell fragility and various skin disorders.
The article discussed diseases caused by mutations in genes encoding keratin intermediate filaments (IF), which led to a loss of structural integrity in cells expressing those keratins. This resulted in cell fragility, compensatory epidermal hyperkeratosis, and keratin filament aggregation in some tissues. The disorders included a variety of phenotypes such as epidermolysis bullosa simplex (EBS), bullous congenital ichthyosiform erythroderma (BCIE), pachyonychia congenital (PC), steatocystoma multiplex, ichthyosis bullosa of Siemens (IBS), and white sponge nevus (WSN) of the orogenital mucosa.
130 citations
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April 2003 in “Journal of Investigative Dermatology” Four specific keratins in hair follicles help understand hair structure and function.
272 citations
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September 2001 in “Journal of Biological Chemistry” Human hair keratins were cataloged, showing their roles in hair differentiation stages.
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.
41 citations
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January 2001 in “Journal of Investigative Dermatology” 130 citations
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January 2000 in “Nature biotechnology” 100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
175 citations
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August 1997 in “Nature Genetics” 232 citations
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July 1995 in “Nature Genetics”
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
