Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
about
Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivityTwo mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related familiesA base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindredsPoint mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistanceRecurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosaA unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detectionVitamin D and the kidneyAssociation between 25(OH)D Level, Ultraviolet Exposure, Geographical Location, and Inflammatory Bowel Disease Activity: A Systematic Review and Meta-AnalysisThe vitamin D receptor is required for activation of cWnt and hedgehog signaling in keratinocytesFunctional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndromeGenetic Disorders of Vitamin D MetabolismPhysical and functional interaction between the vitamin D receptor and hairless corepressor, two proteins required for hair cyclingThe mouse androgen receptor. Functional analysis of the protein and characterization of the gene.The biology and pathology of vitamin D control in bone.Intra-atrial calcium infusions, growth, and development in end organ resistance to vitamin DHypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes.Evolution of the nuclear receptor gene superfamily.Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13Inactivation of the vitamin D receptor enhances susceptibility of murine skin to UV-induced tumorigenesisA possible role of vitamin D receptors in regulating vitamin D activation in the kidney.Truncated forms of DNA-binding estrogen receptors in human breast cancer.Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta geneCOUP-TF gene: a structure unique for the steroid/thyroid receptor superfamilyAn ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three familiesMutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects.Lymphoid enhancer-binding factor-1 (LEF1) interacts with the DNA-binding domain of the vitamin D receptorGenetics of susceptibility to leprosy.Minireview: nuclear receptor regulation of osteoclast and bone remodeling.The investigation of hypocalcaemia and rickets.Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysisDetection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.Use of 3' untranslated sequences of human cDNAs for rapid chromosome assignment and conversion to STSs: implications for an expression map of the genome.Regulation of 1,25-dihydroxyvitamin D3 receptor gene expression by 1,25-dihydroxyvitamin D3 in the parathyroid in vivo.A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance.Vitamin D receptor is essential for normal keratinocyte stem cell functionDifferential splicing of human androgen receptor pre-mRNA in X-linked Reifenstein syndrome, because of a deletion involving a putative branch siteThe nonskeletal effects of vitamin D: an Endocrine Society scientific statement.Signal transduction in endocrine tissues.
P2860
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P2860
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
description
1988 nî lūn-bûn
@nan
1988 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
@ast
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
@en
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
@en-gb
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
@nl
type
label
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
@ast
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
@en
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
@en-gb
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
@nl
prefLabel
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
@ast
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
@en
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
@en-gb
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
@nl
P2093
P921
P356
P1433
P1476
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
@en
P2093
B W O'Malley
D G Kieback
M R Hughes
P J Malloy
R A Kesterson
P304
P356
10.1126/SCIENCE.2849209
P407
P577
1988-12-23T00:00:00Z