Genetic Disorders and Defects in Vitamin D Action

    June 2010 in “ Endocrinology and metabolism clinics of North America ”
    Peter J. Malloy, David Feldman
    Studysummary This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
    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
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    Research cited in this study 17

    1. Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Arquivos Brasileiros de Endocrinologia & Metabologia · 2008
    2. Interactions of the Vitamin D Receptor with the Corepressor Hairless Journal of Biological Chemistry · 2007
    3. 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
    4. Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation Cell Cycle · 2006
    5. A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling Hormone Research in Paediatrics · 2006
    6. Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes Endocrinology · 2005
    7. Hairless Triggers Reactivation of Hair Growth by Promoting Wnt Signaling Proceedings of the National Academy of Sciences of the United States of America · 2005
    8. Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis Molecular Endocrinology · 2004
    9. Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling Journal of Biological Chemistry · 2003
    10. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets KARGER eBooks · 2003
    11. Targeting Expression of the Human Vitamin D Receptor to the Keratinocytes of Vitamin D Receptor Null Mice Prevents Alopecia Endocrinology · 2001
    12. 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
    13. Normalization of Mineral Ion Homeostasis by Dietary Means Prevents Hyperparathyroidism, Rickets, and Osteomalacia, But Not Alopecia in Vitamin D Receptor-Ablated Mice Endocrinology · 1998
    14. Alopecia Universalis Associated With a Mutation in the Human Hairless Gene Science · 1998
    15. Vitamin D-Dependent Rickets Type II: Extreme End Organ Resistance to 1,25-Dihydroxy Vitamin D3 in a Patient Without Alopecia European journal of pediatrics · 1986
    16. 1,25-Dihydroxyvitamin D Resistance, Rickets, and Alopecia The American Journal of Medicine · 1984
    17. Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects ˜The œJournal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism · 1983