Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82

    February 2022 in “ Nature communications ”
    S. Erjavec, Sahar Gelfman, A.R. Abdelaziz … Angela M. Christiano
    Studysummary This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.
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    Research cited in this study 15

    1. Epidemiology and Burden of Alopecia Areata: A Systematic Review Clinical, Cosmetic and Investigational Dermatology · 2015
    2. The Autoimmune Basis of Alopecia Areata: A Comprehensive Review Autoimmunity reviews · 2014
    3. Alopecia Areata Is Driven by Cytotoxic T Lymphocytes and Is Reversed by JAK Inhibition Nature medicine · 2014
    4. Annotation of Sheep Keratin Intermediate Filament Genes and Their Patterns of Expression Experimental Dermatology · 2011
    5. Genome-Wide Association Study in Alopecia Areata Implicates Both Innate and Adaptive Immunity Nature · 2010
    6. The Disruption of Sox21-Mediated Hair Shaft Cuticle Differentiation Causes Cyclic Alopecia in Mice Proceedings of the National Academy of Sciences · 2009
    7. The Molecular Basis of Human Keratin Disorders Human Genetics · 2009
    8. The Human Keratins: Biology And Pathology Histochemistry and Cell Biology · 2008
    9. Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics · 2007
    10. Keratin 17 Modulates Hair Follicle Cycling in a TNFα-Dependent Fashion Genes & Development · 2006
    11. Keratins of the Human Hair Follicle International review of cytology · 2005
    12. 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
    13. Human Hair: A Unique Physicochemical Composite Journal of the American Academy of Dermatology · 2003
    14. The Catalog of Human Hair Keratins Journal of Biological Chemistry · 2001
    15. Autoantibodies to Hair Follicles in C3H/HeJ Mice With Alopecia Areata-Like Hair Loss Journal of Investigative Dermatology · 1997

    Related research 4

    1. Case Report of Novel Combination of Anthralin and Calcipotriene Leading to Trichologic Response in Alopecia Areata JAAD case reports · 2019
    2. Alopecia Areata: A Multifactorial Autoimmune Condition Journal of autoimmunity · 2018
    3. Linear Alopecia Areata JAAD case reports · 2018
    4. Treating Resistant Cases of Alopecia Universalis Journal of cosmetology & trichology · 2018