Keratin 71 Mutations: From Water Dogs to Woolly Hair

    September 2012 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Sivan Harel, Angela M. Christiano
    Studysummary This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
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    Research cited in this study 18

    1. A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012
    2. LPA-Producing Enzyme PA-PLA1α Regulates Hair Follicle Development by Modulating EGFR Signaling The EMBO Journal · 2011
    3. APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex Nature · 2010
    4. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010
    5. Identification of the Rat Rex Mutation as a 7-Bp Deletion at Splicing Acceptor Site of the Krt71 Gene Journal of Veterinary Medical Science · 2010
    6. Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2009
    7. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
    8. Scratching the Surface of Skin Development Nature · 2007
    9. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    10. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006
    11. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2006
    12. A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix Journal of Medical Genetics · 2005
    13. Keratins of the Human Hair Follicle International review of cytology · 2005
    14. An Unusual Ala12Thr Polymorphism in the 1A Alpha-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae Journal of Investigative Dermatology · 2004
    15. A Small Deletion Hotspot in the Type II Keratin Gene mK6irs1/Krt2-6g on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation Genetics · 2003
    16. Is Loose Anagen Hair Syndrome a Keratin Disorder? Archives of Dermatology · 2002
    17. Hard and Soft Principles Defining the Structure, Function, and Regulation of Keratin Intermediate Filaments Current Opinion in Cell Biology · 2002
    18. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997