Keratins: The Hair Shaft's Backbone Revealed

    February 2015 in “ Experimental Dermatology ”
    Yuval Ramot, Abraham Zlotogorski
    Studysummary This report expands the known genetic mutations linked to monilethrix by identifying new patients with KRT83 mutations, confirming its role as a causative gene for this hair disorder.
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    Research cited in this study 16

    1. Novel KRT83 and KRT86 Mutations Associated with Monilethrix Experimental Dermatology · 2015
    2. Harnessing Neuroendocrine Controls of Keratin Expression: A New Therapeutic Strategy for Skin Diseases? BioEssays · 2014
    3. Monilethrix The Journal of Pediatrics · 2012
    4. A Novel Monilethrix Mutation in Coil 2A of KRT86 Causing Autosomal Dominant Monilethrix with Incomplete Penetrance British Journal of Dermatology · 2012
    5. The Proteomic Profile of Hair Damage British Journal of Dermatology · 2012
    6. Keratin Gene Mutations in Disorders of Human Skin and Its Appendages Archives of Biochemistry and Biophysics · 2010
    7. Monilethrix in Pattern Distribution in Siblings: Diagnosis by Trichoscopy International journal of trichology · 2010
    8. Endocrine Controls of Keratin Expression BioEssays · 2009
    9. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006
    10. A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type Journal of Medical Genetics · 2006
    11. A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix Journal of Medical Genetics · 2005
    12. Structural Stability of Wild Type and Mutated Alpha-Keratin Fragments: Molecular Dynamics and Free Energy Calculations Biomacromolecules · 2004
    13. 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
    14. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    15. 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
    16. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997