Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix

    December 1999 in “ Journal of Investigative Dermatology ”
    Eve G. Pearce, S. K. Smith, Paul E. Bowden, Sean W. Lanigan
    Studysummary Mutations in the hHb6 gene cause the hair disorder monilethrix.
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    Research cited in this study 18

    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. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    8. Sequences and Differential Expression of Three Novel Human Type-II Hair Keratins Differentiation · 1997
    9. Genomic Characterization of the Human Type I Cuticular Hair Keratin hHa2 and Identification of an Adjacent Novel Type I Hair Keratin Gene hHa5 Journal of Investigative Dermatology · 1996
    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. A cDNA Encoding the Human Type I Hair Keratin hHa1 Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · 1995
    13. A Gene for Monilethrix Is Closely Linked to the Type II Keratin Gene Cluster at 12q13 Human Molecular Genetics · 1995
    14. A Novel Human Type I Hair Keratin Gene: Evidence For Two Keratin HHa3 Isoforms Molecular Biology Reports · 1995
    15. Patterns of Expression of Trichocytic and Epithelial Cytokeratins in Mammalian Tissues II: Concomitant and Mutually Exclusive Synthesis of Trichocytic and Epithelial Cytokeratins in Diverse Human and Bovine Tissues (Hair Follicle, Nail Bed and Matrix, Lingual Papilla, Thymic Reticulum) Differentiation · 1988
    16. Patterns of Expression of Trichocytic and Epithelial Cytokeratins in Mammalian Tissues: Human and Bovine Hair Follicles Differentiation · 1988
    17. Chapter 3: Expression and Modification of Keratins During Terminal Differentiation of Mammalian Epidermis Current topics in developmental biology/Current Topics in Developmental Biology · 1987
    18. Monilethrix: An Ultrastructural Study Journal of Cutaneous Pathology · 1984