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

    September 2009 in “ Molecular Genetics and Metabolism ”
    Peter J. Malloy, Jining Wang, Tarak Srivastava … David Feldman
    Studysummary This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
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    Research cited in this study 6

    1. Interactions of the Vitamin D Receptor with the Corepressor Hairless Journal of Biological Chemistry · 2007
    2. 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
    3. Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis Molecular Endocrinology · 2004
    4. Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets Due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function Endocrinology · 2004
    5. Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling Journal of Biological Chemistry · 2003
    6. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets KARGER eBooks · 2003