A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling

    January 2006 in “ Hormone Research in Paediatrics ”
    Paravee Katavetin, Pisut Katavetin, Suttipong Wacharasindhu … Vorasuk Shotelersuk
    Studysummary In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.
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    Research cited in this study 4

    1. Vitamin D Resistance Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism · 2006
    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. Metabolic And Cellular Analysis Of Alopecia In Vitamin D Receptor Knockout Mice Journal of Clinical Investigation · 2001

    Related research 1

    1. Stress-Induced c-Jun-Dependent Vitamin D Receptor Activation Dissects the Non-Classical VDR Pathway from the Classical VDR Activity Journal of biological chemistry/˜The œJournal of biological chemistry · 2007