Alopecia Areata Susceptibility Variant Identified by MHC Risk Haplotype Sequencing Reproduces Symptomatic Patched Hair Loss in Mice

    April 2018 in “ bioRxiv (Cold Spring Harbor Laboratory) ”
    Akira Oka, Atsushi Takagi, Etsuko Komiyama … Shigaku Ikeda

    Preprint — not peer reviewed. This was posted to a preprint server or data repository. It has not been through a journal's review process, and its findings may change or not hold up.

    Studysummary This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
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    Research cited in this study 18

    1. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016
    2. The Structure of People's Hair PeerJ · 2014
    3. Alopecia Areata Is Driven by Cytotoxic T Lymphocytes and Is Reversed by JAK Inhibition Nature medicine · 2014
    4. Characterization of the Human Hair Shaft Cuticle-Specific Keratin-Associated Protein 10 Family Journal of Investigative Dermatology · 2013
    5. Characterization of the Human Hair Keratin-Associated Protein 2 (KRTAP2) Gene Family Journal of Investigative Dermatology · 2012
    6. Hair and Scalp Dermatoscopy Journal of The American Academy of Dermatology · 2012
    7. The Nude Mutant Gene Foxn1 Is a HOXC13 Regulatory Target During Hair Follicle and Nail Differentiation ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2010
    8. Quality of Life in Alopecia Areata: A Study of 60 Cases Journal of Investigative Dermatology · 2010
    9. Genome-Wide Association Study in Alopecia Areata Implicates Both Innate and Adaptive Immunity Nature · 2010
    10. Clinical Significance of Dermoscopy in Alopecia Areata: Analysis of 300 Cases International Journal of Dermatology · 2008
    11. Alopecia Areata: Overview and Treatment Options International Journal of Dermatology · 2007
    12. K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), And K28 (K25irs4) Represent The Type I Inner Root Sheath Keratins Of The Human Hair Follicle Journal of Investigative Dermatology · 2006
    13. Transgenic Mouse Models Support HCR as an Effector Gene in the PSORS1 Locus Human molecular genetics online/Human molecular genetics · 2004
    14. The Pattern and Profile of Alopecia Areata in Singapore: A Study of 219 Asians International Journal of Dermatology · 2002
    15. Alopecia Areata: Animal Models Clinical and Experimental Dermatology · 2002
    16. Overexpression of Hoxc13 in Differentiating Keratinocytes Results in Downregulation of a Novel Hair Keratin Gene Cluster and Alopecia Development · 2001
    17. Hoxc13 Mutant Mice Lack External Hair Genes & Development · 1998
    18. Profile of Alopecia Areata: A Questionnaire Analysis of Patients and Families International Journal of Dermatology · 1992