A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia

    August 2014 in “ Endocrinology ”
    Seong Min Lee, Joseph J. Goellner, Charles A. O’Brien, J. Wesley Pike
    Studysummary This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
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    Research cited in this study 12

    1. Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets BoneKEy Reports · 2014
    2. Overexpression of Hedgehog Signaling Is Associated With Epidermal Tumor Formation in Vitamin D Receptor-Null Mice Journal of Investigative Dermatology · 2011
    3. Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice Endocrine reviews · 2008
    4. Inactivation of the Vitamin D Receptor Enhances Susceptibility of Murine Skin to UV-Induced Tumorigenesis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2008
    5. Hair Follicle Expression of 1,25-Dihydroxyvitamin D3 Receptors During the Murine Hair Cycle British Journal of Dermatology · 2006
    6. Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes Endocrinology · 2005
    7. Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis Molecular Endocrinology · 2004
    8. 25 Hydroxyvitamin D 1 Alpha-Hydroxylase Is Required for Optimal Epidermal Differentiation and Permeability Barrier Homeostasis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2004
    9. Deletion of DNA Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D Molecular Endocrinology · 2002
    10. Targeted Expression of Human Vitamin D Receptor in the Skin Promotes the Initiation of the Postnatal Hair Follicle Cycle and Rescues Alopecia in Vitamin D Receptor Null Mice ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2002
    11. Targeting Expression of the Human Vitamin D Receptor to the Keratinocytes of Vitamin D Receptor Null Mice Prevents Alopecia Endocrinology · 2001
    12. Evaluation of Keratinocyte Proliferation and Differentiation in Vitamin D Receptor Knockout Mice Endocrinology · 2000

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    1. A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia Endocrinology · 2014