A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix

    March 2005 in “ Journal of Medical Genetics ”
    Maurice A. M. Van Steensel
    Studysummary This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
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    Research cited in this study 17

    1. De Novo Mutations in Monilethrix Experimental Dermatology · 2003
    2. Recurrent Missense Mutations in the Hair Keratin Gene HHb6 in Monilethrix Clinical and Experimental Dermatology · 2003
    3. Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix Dermatology · 2003
    4. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2002
    5. The Catalog of Human Hair Keratins Journal of Biological Chemistry · 2001
    6. Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6 Human Heredity · 2000
    7. Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix Journal of Investigative Dermatology · 1999
    8. Current Management of Androgenetic Alopecia in Men PubMed · 1999
    9. 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
    10. Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6 Journal of Investigative Dermatology · 1999
    11. The Catalog of Human Hair Keratins Journal of biological chemistry/˜The œJournal of biological chemistry · 1999
    12. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998
    13. Monilethrix: A Keratin HHb6 Mutation Is Co-Dominant With Variable Expression Experimental Dermatology · 1998
    14. 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
    15. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    16. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    17. Evidence for Genetic Heterogeneity in Monilethrix Journal of Investigative Dermatology · 1996