Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia

    October 2009 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Yutaka Shimomura, Muhammad Wajid, Mazen Kurban … Angela M. Christiano
    Studysummary In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
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    Research cited in this study 4

    1. A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type Journal of Medical Genetics · 2006
    2. Expression of Hair Keratins in the Adult Nail Unit: An Immunohistochemical Analysis of Onychogenesis in the Proximal Nail Fold, Matrix, and Nail Bed British Journal of Dermatology · 2004
    3. Hard and Soft Principles Defining the Structure, Function, and Regulation of Keratin Intermediate Filaments Current Opinion in Cell Biology · 2002
    4. The Catalog of Human Hair Keratins Journal of Biological Chemistry · 2001

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