Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets Due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function

    August 2004 in “ Endocrinology ”
    Peter J. Malloy, Rong Xu, Lihong Peng … David Feldman
    Studysummary This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on doi.org →
    Discuss this study in the Community →

    Research cited in this study 4

    1. Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling Journal of Biological Chemistry · 2003
    2. Tryptophan Missense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25-Dihydroxyvitamin D Journal of Bone and Mineral Research · 2002
    3. The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed Journal of bone and mineral research · 1998
    4. The Combined Use of Intravenous and Oral Calcium for the Treatment of Vitamin D Dependent Rickets Type II Clinical endocrinology · 1993