Novel KRT83 and KRT86 Mutations Associated with Monilethrix

    January 2015 in “ Experimental Dermatology ”
    Maurice A. M. Van Steensel, Maaike Vreeburg, María Teresa Urbina … Michel van Geel
    Studysummary This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
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    Research cited in this study 10

    1. A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix Journal of Medical Genetics · 2005
    2. De Novo Mutations in Monilethrix Experimental Dermatology · 2003
    3. The Catalog of Human Hair Keratins Journal of Biological Chemistry · 2001
    4. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999
    5. The Catalog of Human Hair Keratins Journal of biological chemistry/˜The œJournal of biological chemistry · 1999
    6. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998
    7. Monilethrix: A Keratin HHb6 Mutation Is Co-Dominant With Variable Expression Experimental Dermatology · 1998
    8. A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1 Journal of Investigative Dermatology · 1998
    9. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    10. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997