Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia

    November 2017 in “ Scientific reports ”
    Min‐Jen Tseng, Shih‐Ming Huang, Fu‐Sung Lo … Shih‐Hua Lin
    Studysummary This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
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    Research cited in this study 13

    1. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets with Alopecia in Four Egyptian Families: Report of Three Novel Mutations in the Vitamin D Receptor Gene Journal of Pediatric Endocrinology and Metabolism · 2014
    2. Hereditary Vitamin D-Resistant Rickets (HVDRR) Owing to a Heterozygous Mutation in the Vitamin D Receptor Journal of Bone and Mineral Research · 2011
    3. The Role of Vitamin D Receptor Mutations in the Development of Alopecia Molecular and Cellular Endocrinology · 2011
    4. Lymphoid Enhancer-Binding Factor-1 Interacts with the DNA-Binding Domain of the Vitamin D Receptor Journal of Biological Chemistry · 2011
    5. The Vitamin D Receptor, the Skin and Stem Cells The Journal of Steroid Biochemistry and Molecular Biology · 2010
    6. 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 Molecular Genetics and Metabolism · 2009
    7. Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Arquivos Brasileiros de Endocrinologia & Metabologia · 2008
    8. The Vitamin D Receptor Is a Wnt Effector That Controls Hair Follicle Differentiation and Specifies Tumor Type in Adult Epidermis PloS one · 2008
    9. Hairless Triggers Reactivation of Hair Growth by Promoting Wnt Signaling Proceedings of the National Academy of Sciences of the United States of America · 2005
    10. Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis Molecular Endocrinology · 2004
    11. 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
    12. Targeting Expression of the Human Vitamin D Receptor to the Keratinocytes of Vitamin D Receptor Null Mice Prevents Alopecia Endocrinology · 2001
    13. Evaluation of Keratinocyte Proliferation and Differentiation in Vitamin D Receptor Knockout Mice Endocrinology · 2000