[VDR function in skin].
Typical abnormalities of hereditary rickets type II patients were observed in the mice deficient of VDR with growth retardation, impaired bone formation and alopecia. Except alopecia, all of the abnormalities were rescued by dietary supplement of high minerals. Genetic mutations in the critical vitamin D biosynthesis enzyme in humans and mice also suffer rachtic phenotypes except alopecia. The function of VDR in skin will be discussed.
Kato
Shigeaki
S
IMCB, University of Tokyo.
Yoko
Yamamoto
Y
D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000172:deficiency / Q000235:genetics; D000505:Alopecia / Q000209:etiology; D000818:Animals; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000209:etiology; D009154:Mutation; D018167:Receptors, Calcitriol / Q000172:deficiency / Q000235:genetics / Q000502:physiology*; D014807:Vitamin D / Q000502:physiology
D018167:Receptors, Calcitriol; D014807:Vitamin D; D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase