A Unique Insertion/Duplication in the VDR Gene That Truncates the VDR Causing Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Without Alopecia

    October 2006 in “ Archives of Biochemistry and Biophysics ”
    Peter J. Malloy, Jining Wang, Lihong Peng … David Feldman
    Studysummary This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
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    Research cited in this study 11

    1. Hairless Triggers Reactivation of Hair Growth by Promoting Wnt Signaling Proceedings of the National Academy of Sciences of the United States of America · 2005
    2. Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis Molecular Endocrinology · 2004
    3. Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets Due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function Endocrinology · 2004
    4. Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling Journal of Biological Chemistry · 2003
    5. 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
    6. 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
    7. Targeting Expression of the Human Vitamin D Receptor to the Keratinocytes of Vitamin D Receptor Null Mice Prevents Alopecia Endocrinology · 2001
    8. The Hairless Gene Mutated in Congenital Hair Loss Disorders Encodes a Novel Nuclear Receptor Corepressor Genes & Development · 2001
    9. 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
    10. The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed Journal of bone and mineral research · 1998
    11. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor Journal of bone and mineral research · 1998

    Related research 3

    1. Hairless Controls Hair Fate Decision via Wnt/β-Catenin Signaling Biochemical and Biophysical Research Communications · 2017
    2. Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis Molecular Endocrinology · 2004
    3. Targeting Expression of the Human Vitamin D Receptor to the Keratinocytes of Vitamin D Receptor Null Mice Prevents Alopecia Endocrinology · 2001