Keratin Gene Mutations in Disorders of Human Skin and Its Appendages

    Jean Christopher Chamcheu, Imtiaz A. Siddiqui, Deeba N. Syed … Hasan Mukhtar
    Studysummary Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 23

    1. Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia Linked to Chromosome 12p11.1-q14.3 Without KRTHB5 Gene Mutation European Journal of Dermatology · 2010
    2. 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
    3. Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility ˜The œJournal of clinical investigation/˜The œjournal of clinical investigation · 2009
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    5. Monilethrix in Three Generations Indian Journal of Dermatology · 2008
    6. Hair Follicle-Specific Keratins And Their Diseases Experimental cell research · 2007
    7. Scratching the Surface of Skin Development Nature · 2007
    8. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006
    9. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions 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. 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. Expression of Hair Keratins in the Adult Nail Unit: An Immunohistochemical Analysis of Onychogenesis in the Proximal Nail Fold, Matrix, and Nail Bed British Journal of Dermatology · 2004
    15. 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
    16. The Catalog of Human Hair Keratins Journal of Biological Chemistry · 2001
    17. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001
    18. Keratin Expression in the Normal Nail Unit: Markers of Regional Differentiation British Journal of Dermatology · 2000
    19. Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6 Human Heredity · 2000
    20. Keratin 17 Mutations Cause Either Steatocystoma Multiplex or Pachyonychia Congenita Type 2 British Journal of Dermatology · 1998
    21. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    22. Mutation of a Type II Keratin Gene (K6a) in Pachyonychia Congenita Nature Genetics · 1995
    23. Different Keratin Polypeptides in Epidermis and Other Epithelia of Human Skin: A Specific Cytokeratin of Molecular Weight 46,000 in Epithelia of the Pilosebaceous Tract and Basal Cell Epitheliomas The Journal of Cell Biology · 1982