Article
Impaired Vitamin D Signaling in T Cells From a Family With Hereditary Vitamin D Resistant Rickets.
Frontiers in immunology - 1 Jan 2021
Al-Jaberi Fatima A H, Kongsbak-Wismann Martin, Aguayo-Orozco Alejandro, Krogh Nicolai, Buus Terkild B, Lopez Daniel V, Rode Anna K O, Gravesen Eva, Olgaard Klaus, Brunak Søren, Woetmann Anders, Ødum Niels, Bonefeld Charlotte M, Geisler Carsten
Abstract excerpt
The active form of vitamin D, 1,25-dihydroxyvitamin D3 (1,25(OH)2D3), mediates its immunomodulatory effects by binding to the vitamin D receptor (VDR). Here, we describe a new point mutation in the DNA-binding domain of the VDR and its consequences for 1,25(OH)2D3 signaling in T cells from heterozygous and homozygous carriers of the mutation. The mutation did not affect the overall structure or the ability of the...
Topics
- Child
- Familial Hypophosphatemic Rickets
- Family
- Female
- Heterozygote
- Homozygote
- Humans
- Male
- Mutation
- Receptors, Calcitriol