A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

    July 1998 in “ Journal of Investigative Dermatology ”
    Hermelita Winter, Christine Labrèze, Valérie Chapalain … Jürgen Schweizer
    Studysummary A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
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    Research cited in this study 9

    1. 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
    2. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    3. 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
    4. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    5. Sequences and Differential Expression of Three Novel Human Type-II Hair Keratins Differentiation · 1997
    6. Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13 Journal of Investigative Dermatology · 1996
    7. Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes Experimental Cell Research · 1995
    8. A Gene for Monilethrix Is Closely Linked to the Type II Keratin Gene Cluster at 12q13 Human Molecular Genetics · 1995
    9. Hair Follicle Differentiation: Expression, Structure, and Evolutionary Conservation of the Hair Type II Keratin Intermediate Filament Gene Family Development · 1992

    Related research 1

    1. Keratin 19: Predicted Amino Acid Sequence and Broad Tissue Distribution Suggest It Evolved from Keratinocyte Keratins Journal of Investigative Dermatology · 1989