A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type

    March 2006 in “ Journal of Medical Genetics ”
    Muhammad Naeem
    Studysummary This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
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    Research cited in this study 8

    1. Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13 Journal of Investigative Dermatology · 2005
    2. The Keratins and Their Disorders American journal of medical genetics. Part C, Seminars in medical genetics · 2004
    3. 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
    4. Hypotrichosis and Nail Dysplasia: A Novel Hidrotic Ectodermal Dysplasia Australasian Journal of Dermatology · 2004
    5. Hard and Soft Principles Defining the Structure, Function, and Regulation of Keratin Intermediate Filaments Current Opinion in Cell Biology · 2002
    6. The Catalog of Human Hair Keratins Journal of Biological Chemistry · 2001
    7. Characterization of a 300 Kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain Journal of Investigative Dermatology · 2000
    8. The Catalog of Human Hair Keratins Journal of biological chemistry/˜The œJournal of biological chemistry · 1999