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    A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype

    December 2014 in “ ˜The œAmerican journal of pathology ”
    Evgueni I. Kountikov, Jonathan C. Poe, Nancie J. Maclver … Thomas F. Tedder
    Studysummary This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.
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    Research cited in this study 5

    1. Alopecia as a Rare but Distinct Manifestation of Pemphigus Vulgaris Journal of the European Academy of Dermatology and Venereology · 2011
    2. Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2007
    3. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2006
    4. Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding Locus ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 1997
    5. Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects Journal of Heredity · 1994

    Related research 1

    1. A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype ˜The œAmerican journal of pathology · 2014