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

    August 1999 in “ Journal of Investigative Dermatology ”
    Hermelita Winter, Michael A. Rogers, Jürgen Schweizer … Caspar Tarras-Wahlberg
    Studysummary New mutations in hair keratin genes cause the rare hair disorder monilethrix.
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    Research cited in this study 12

    1. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998
    2. Monilethrix: A Keratin HHb6 Mutation Is Co-Dominant With Variable Expression Experimental Dermatology · 1998
    3. Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes Journal of biological chemistry/˜The œJournal of biological chemistry · 1998
    4. 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
    5. Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 1998
    6. A Splice Site Mutation in the Human Type I Hair Keratin Gene hHa1 Results in the Expression of a Tailless Keratin Isoform Journal of Biological Chemistry · 1997
    7. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    8. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    9. Sequences and Differential Expression of Three Novel Human Type-II Hair Keratins Differentiation · 1997
    10. Evidence for Genetic Heterogeneity in Monilethrix Journal of Investigative Dermatology · 1996
    11. Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13 Journal of Investigative Dermatology · 1996
    12. A Gene for Monilethrix Is Closely Linked to the Type II Keratin Gene Cluster at 12q13 Human Molecular Genetics · 1995