Hereditary Vitamin D-Resistant Rickets (HVDRR) Owing to a Heterozygous Mutation in the Vitamin D Receptor

    August 2011 in “ Journal of Bone and Mineral Research ”
    Peter J. Malloy, Yulin Zhou, Jining Wang … David Feldman
    Studysummary This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
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    Research cited in this study 9

    1. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010
    2. Analysis of Hairless Corepressor Mutants to Characterize Molecular Cooperation with the Vitamin D Receptor in Promoting the Mammalian Hair Cycle Journal of Cellular Biochemistry · 2010
    3. Interactions of the Vitamin D Receptor with the Corepressor Hairless Journal of Biological Chemistry · 2007
    4. A Unique Insertion/Duplication in the VDR Gene That Truncates the VDR Causing Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Without Alopecia Archives of Biochemistry and Biophysics · 2006
    5. Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis Molecular Endocrinology · 2004
    6. Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling Journal of Biological Chemistry · 2003
    7. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets KARGER eBooks · 2003
    8. Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2001
    9. The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed Journal of bone and mineral research · 1998