... by the early onset of rickets and is caused by mutations in the vitamin D receptor ( VDR ) gene. Some HVDRR patients also have alopecia. Patients and Methods: We retrospectively studied the clinical features, laboratory findings, genetic defects, as well as responses to treatment in a series of children...

...Betul Ersoy; Seniha Kiremitci; Tsuyoshi Isojima; Sachiko Kitanaka Background: Hereditary vitamin D-resistant rickets (HVDRR) is a rare genetic disorder caused by mutations in the vitamin D receptor (VDR) gene, which result in end-organ resistance to 1,25-(OH) 2 D 3 . Patients with HVDRR are mostly...

... to alopecia. His condition was successfully managed with high doses of oral calcium and vitamin D. All 3 patients were homozygous for a mutation in the DNA-binding domain of vitamin D receptor. At the most recent evaluation of these patients, currently maintained on oral calcium and vitamin D, clinical...

... or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Vitamin D Analogs Vitamin D-binding protein Vitamin D receptor 9 12 2008...

.... Vitamin D receptor Oral calcium Calciferols Hormone Res. 24; 280-287 (1986) Hereditary Resistance to 1,25-Dihydroxy vitamin D: Clinical and Radiological Improvement during High-Dose Oral Calcium Therapy Nadia Sakatia, Nicholas Y. Woodhouseb. Nancy Niles'0. Hath Harfia. Donald A. de Grangec. Stephen...

...Paravee Katavetin; Pisut Katavetin; Suttipong Wacharasindhu; Vorasuk Shotelersuk Mutations in vitamin D receptor ( VDR ) cause hereditary vitamin D resistant rickets (HVDRR). We reported a Thai girl with HVDRR, presenting with an early onset of rickets and partial alopecia. She was a product...

... autosomal recessive disorder associated with mutations in the gene of the vitamin D receptor (VDR), the mediator of 1,25(OH) 2 D 3 action. Although many investigations have discussed the clinical manifestations and molecular etiology of this disease, only a few have investigated the biochemical and hormonal...

...-hydroxyvitamin D 3 to 1α,25(OH) 2 D 3 by the enzyme 25-hydroxyvitamin D 3 1α-hydroxylase(CYP27B1)[1α(OH)ase]. 1α,25(OH) 2 D 3 transcriptionally controls the expression of a particular set of target genes mediated through nuclear vitamin D receptor(VDR) acting as a ligand-inducible factor. Two types of vitamin D...