Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

    Bernhard Korge, Henning Hamm, Catherine S. Jury … Colin S. Munro
    Studysummary New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
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    Research cited in this study 13

    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 New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    7. 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
    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. Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13 Journal of Investigative Dermatology · 1996
    11. Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes Experimental Cell Research · 1995
    12. Mutation of a Type II Keratin Gene (K6a) in Pachyonychia Congenita Nature Genetics · 1995
    13. A Gene for Monilethrix Is Closely Linked to the Type II Keratin Gene Cluster at 12q13 Human Molecular Genetics · 1995

    Related research 1

    1. The Extraction And Characterization Of Human Nail Keratin Journal of Dermatological Science · 1991