Recurrent Missense Mutations in the Hair Keratin Gene HHb6 in Monilethrix

    March 2003 in “ Clinical and Experimental Dermatology ”
    Karima Djabali, Andrey A. Panteleyev, T. Waran Lalin … Angela M. Christiano
    Studysummary This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.
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    Research cited in this study 15

    1. The Catalog of Human Hair Keratins Journal of Biological Chemistry · 2001
    2. Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2001
    3. Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6 Human Heredity · 2000
    4. Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix Journal of Investigative Dermatology · 1999
    5. 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
    6. 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
    7. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998
    8. Monilethrix: A Keratin HHb6 Mutation Is Co-Dominant With Variable Expression Experimental Dermatology · 1998
    9. 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
    10. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    11. Mapping of Monilethrix to the Type II Keratin Gene Cluster at Chromosome 12q13 in Three New Families, Including One with Variable Expressivity British Journal of Dermatology · 1997
    12. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    13. Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes Experimental Cell Research · 1995
    14. A Gene for Monilethrix Is Closely Linked to the Type II Keratin Gene Cluster at 12q13 Human Molecular Genetics · 1995
    15. Monilethrix: An Ultrastructural Study Journal of Cutaneous Pathology · 1984