The Molecular Basis of Human Keratin Disorders

    February 2009 in “ Human Genetics ”
    Meral J. Arin
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    Research cited in this study 16

    1. The Human Keratins: Biology And Pathology Histochemistry and Cell Biology · 2008
    2. Hair Follicle-Specific Keratins And Their Diseases Experimental cell research · 2007
    3. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006
    4. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006
    5. A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type Journal of Medical Genetics · 2006
    6. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2006
    7. A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix Journal of Medical Genetics · 2005
    8. Keratins of the Human Hair Follicle International review of cytology · 2005
    9. Identification of Somatic and Germline Mosaicism for a Keratin 5 Mutation in Epidermolysis Bullosa Simplex in a Family Initially Regarded as a Sporadic Case Clinical Genetics · 2004
    10. 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
    11. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001
    12. Keratin Expression in the Normal Nail Unit: Markers of Regional Differentiation British Journal of Dermatology · 2000
    13. Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6 Human Heredity · 2000
    14. Keratin 17 Mutations Cause Either Steatocystoma Multiplex or Pachyonychia Congenita Type 2 British Journal of Dermatology · 1998
    15. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    16. Mutation of a Type II Keratin Gene (K6a) in Pachyonychia Congenita Nature Genetics · 1995