A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix

    February 2011 in “ Journal of Biomedical Research/Journal of biomedical research ”
    Jin Wu, Yong-li Lin, Xu Wang … Wenhong Fan
    Studysummary This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
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    Research cited in this study 20

    1. Analysis of Human Hair Basic Keratin 6 Gene Mutation in a Chinese Han Family With Monilethrix PubMed · 2008
    2. More Than One Gene Involved in Monilethrix: Intracellular but Also Extracellular Players Journal of Investigative Dermatology · 2006
    3. A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix Journal of Medical Genetics · 2005
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    6. A Study of Phenotypic Correlation With the Genotypic Status of HTM Regions of KRTHB6 and KRTHB1 Genes in Monilethrix Families of Indian Origin Annales de Génétique · 2003
    7. Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix Dermatology · 2003
    8. Characterization of a 300 Kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain Journal of Investigative Dermatology · 2000
    9. Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6 Human Heredity · 2000
    10. Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix Journal of Investigative Dermatology · 1999
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    12. 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
    13. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998
    14. Monilethrix: A Keratin HHb6 Mutation Is Co-Dominant With Variable Expression Experimental Dermatology · 1998
    15. 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
    16. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    17. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    18. Evidence for Genetic Heterogeneity in Monilethrix Journal of Investigative Dermatology · 1996
    19. Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13 Journal of Investigative Dermatology · 1996
    20. A Gene for Monilethrix Is Closely Linked to the Type II Keratin Gene Cluster at 12q13 Human Molecular Genetics · 1995