Functional Analyses of a Novel Missense and Other Mutations of the Vitamin D Receptor in Association with Alopecia

    July 2017 in “ Scientific Reports ”
    Tamura Mayuko, Ishizawa, Michiyasu, Isojima Tsuyoshi … Özen Samim
    Studysummary This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
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    Research cited in this study 5

    1. Hairless Modulates Ligand-Dependent Activation of the Vitamin D Receptor-Retinoid X Receptor Heterodimer Biological & pharmaceutical bulletin · 2012
    2. The Role of Vitamin D Receptor Mutations in the Development of Alopecia Molecular and Cellular Endocrinology · 2011
    3. Vitamin D and the Skin Journal of bone and mineral metabolism · 2010
    4. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets With Alopecia Resulting From a Novel Missense Mutation in the DNA-Binding Domain of the Vitamin D Receptor Molecular Genetics and Metabolism · 2009
    5. Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis Molecular Endocrinology · 2004