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

The Vitamin D Receptor and the Syndrome of Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets*

1999 • 363 citations

The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families.

1990 • 192 citations

Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis

2004 • 143 citations

An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families.

1989 • 142 citations

Metabolic and cellular analysis of alopecia in vitamin D receptor knockout mice

2001 • 139 citations

A Novel Mutation in Helix 12 of the Vitamin D Receptor Impairs Coactivator Interaction and Causes Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets without Alopecia

2002 • 91 citations

Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping

1996 • 67 citations

Mutations in the Vitamin D Receptor Gene in Three Kindreds Associated with Hereditary Vitamin D Resistant Rickets

1997 • 65 citations

Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function

2004 • 63 citations

A Novel Inborn Error in the Ligand-Binding Domain of the Vitamin D Receptor Causes Hereditary Vitamin D-Resistant Rickets

2001 • 56 citations

Vitamin D resistance

2006 • 52 citations

Vitamin D resistance

1999 • 42 citations

A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets

2002 • 36 citations

Vitamin-D-Dependent Rickets Type 2

2002 • 29 citations