An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families
about
Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophyThe molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related familiesVitamin D and the kidneyTwo mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structuresOsteoblast-specific transcription factor Osterix increases vitamin D receptor gene expression in osteoblasts.A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance.Modification of the apolipoprotein B gene in HepG2 cells by gene targeting.Regulation of 1,25-dihydroxyvitamin D3 receptor gene expression by 1,25-dihydroxyvitamin D3 in the parathyroid in vivo.Genetic defects of the 1,25-dihydroxyvitamin D3 receptor.Osteopenia in 37 members of seven families: analysis based on a model of dominant inheritance.Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia.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.Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.The polymerase chain reaction. Applications in dermatology.The vitamin D receptor: contemporary genomic approaches reveal new basic and translational insights.A rationale for treatment of hereditary vitamin D-resistant rickets with analogs of 1 alpha,25-dihydroxyvitamin D(3).The cellular and molecular basis of the ectopic ACTH syndrome.Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.Immunocytology with microwave-fixed fibroblasts shows 1 alpha,25-dihydroxyvitamin D3-dependent rapid and estrogen-dependent slow reorganization of vitamin D receptorsA unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.Forward dermatologyBiology and Mechanisms of Action of the Vitamin D Hormone.
P2860
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P2860
An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families
description
1989 nî lūn-bûn
@nan
1989 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
An ochre mutation in the vitam ...... tant rickets in three families
@ast
An ochre mutation in the vitam ...... tant rickets in three families
@en
An ochre mutation in the vitam ...... tant rickets in three families
@nl
type
label
An ochre mutation in the vitam ...... tant rickets in three families
@ast
An ochre mutation in the vitam ...... tant rickets in three families
@en
An ochre mutation in the vitam ...... tant rickets in three families
@nl
prefLabel
An ochre mutation in the vitam ...... tant rickets in three families
@ast
An ochre mutation in the vitam ...... tant rickets in three families
@en
An ochre mutation in the vitam ...... tant rickets in three families
@nl
P2093
P2860
P356
P1476
An ochre mutation in the vitam ...... tant rickets in three families
@en
P2093
Hochberg Z
Ritchie HH
Thompson ET
P2860
P304
P356
10.1073/PNAS.86.24.9783
P407
P577
1989-12-01T00:00:00Z