Rickets with alopecia: an inborn error of vitamin D metabolism.
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The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related familiesPleiotropic Activities of Vitamin D Receptors - Adequate Activation for Multiple Health OutcomesVitamin D activities for health outcomesTwo mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structuresGenetic Disorders of Vitamin D MetabolismStructure and regulation of the rat 1,25-dihydroxyvitamin D3 receptor.The receptor-dependent actions of 1,25-dihydroxyvitamin D are required for normal growth plate maturation in NPt2a knockout mice.An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three familiesVitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D.Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.Failure to heal D-deficiency rickets and suppress secondary hyperparathyroidism with conventional doses of 1,25-dihydroxy vitamin D3.Resistance to 1,25-dihydroxyvitamin D. Association with heterogeneous defects in cultured skin fibroblasts.Nuclear uptake of 1,25-dihydroxy[3H]cholecalciferol in dispersed fibroblasts cultured from normal human skinThe role of vitamin D receptor mutations in the development of alopeciaImpaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positive resistance to 1,25-dihydroxyvitamin D3.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.Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping.A rationale for treatment of hereditary vitamin D-resistant rickets with analogs of 1 alpha,25-dihydroxyvitamin D(3).The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII).IFAP Syndrome with Rickets and Normal Vitamin D Status.Analysis of the relation between alopecia and resistance to 1,25-dihydroxyvitamin D.
P2860
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P2860
Rickets with alopecia: an inborn error of vitamin D metabolism.
description
1979 nî lūn-bûn
@nan
1979年の論文
@ja
1979年論文
@yue
1979年論文
@zh-hant
1979年論文
@zh-hk
1979年論文
@zh-mo
1979年論文
@zh-tw
1979年论文
@wuu
1979年论文
@zh
1979年论文
@zh-cn
name
Rickets with alopecia: an inborn error of vitamin D metabolism.
@en
type
label
Rickets with alopecia: an inborn error of vitamin D metabolism.
@en
prefLabel
Rickets with alopecia: an inborn error of vitamin D metabolism.
@en
P2093
P1476
Rickets with alopecia: an inborn error of vitamin D metabolism.
@en
P2093
P304
P356
10.1016/S0022-3476(79)80139-0
P407
P577
1979-05-01T00:00:00Z