Hair Follicle-Specific Keratins And Their Diseases

    June 2007 in “ Experimental cell research
    Jürgen Schweizer, Lutz Langbein, Michael A. Rogers, Hermelita Winter
    TLDR Only a few hair-specific keratins are linked to inherited hair disorders.
    The document discussed the complexity of the human hair keratin family, which was initially thought to be simpler than the epithelial keratin family but was later found to include 54 functional keratin genes. These genes are divided into type I and type II, with specific clusters on chromosomes 17 and 12. The study highlighted the expression patterns of these keratins in the hair follicle and inner root sheath (IRS). It also noted that mutations in type II keratins are linked to hair and nail pathologies, with a particular focus on the imbalance of keratins in the IRS and its implications for hair follicle malformations. The research emphasized the need for further investigation into the newly discovered type I IRS keratins and their role in diseases like monilethrix.
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