A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia

This publication has 42 references indexed in Scilit:

• A Unique Insertion/Substitution in Helix H1 of the Vitamin D Receptor Ligand Binding Domain in a Patient With Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
  Journal of Bone and Mineral Research, 2004
• Novel Mechanism of Nuclear Receptor Corepressor Interaction Dictated by Activation Function 2 Helix Determinants
  Molecular and Cellular Biology, 2002
• 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
• The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
  Genes & Development, 2001
• Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
  Journal of Investigative Dermatology, 2001
• The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
  Journal of Bone and Mineral Research, 1998
• Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.
  Journal of Clinical Investigation, 1997
• The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families.
  Journal of Clinical Investigation, 1990
• A Rapid and Sensitive Method for the Quantitation of Microgram Quantities of Protein Utilizing the Principle of Protein-Dye Binding
  Analytical Biochemistry, 1976
• A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
  Analytical Biochemistry, 1976