TLDR Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
The document reviewed the genetic and molecular basis of epidermolysis bullosa simplex (EBS), focusing on mutations in keratin genes K5 and K14 that disrupt skin integrity, leading to fragility and blistering. It discussed various EBS phenotypes, the role of specific mutations, and the impact on keratin filament assembly. Mouse models provided insights into disease mechanisms and potential therapies, such as gene therapy and reprogramming keratin biosynthesis. The review highlighted challenges in developing effective treatments due to the dominant nature of keratin mutations and emphasized the need for further research to understand intermediate filament structure and function.
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.
122 citations
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June 2002 in “Genes & Development” Keratin 17 is crucial for early hair strength and cell survival.
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.
156 citations
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January 1989 in “Genes & Development” The study investigated keratin and keratin mRNA expression during the differentiation of stem cells into epidermis and hair follicles, as well as follicle morphogenesis. It found that type I keratin K14 was expressed early in embryonal basal cells and elevated in the basal layer of developing epidermis, but suppressed in developing matrix cells, indicating a biochemical distinction between diverging cell types. This expression pattern suggested a narrow developmental window for irreversible divergence in basal and matrix cells. In contrast, a hair-specific type I keratin was expressed late in hair matrix development, indicating that keratin expression might be a consequence of cell organization and differentiation rather than a cause.
December 1991 in “Annals of the New York Academy of Sciences” Keratin proteins are crucial for hair structure and strength.
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.
28 citations
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April 1996 in “Cell biology international” Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
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.
