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Science 25 May 1984:
Vol. 224. no. 4651, pp. 879 - 881
DOI: 10.1126/science.6326262
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Articles

Science, Vol 224, Issue 4651, 879-881
Copyright © 1984 by American Association for the Advancement of Science

articles

Vitamin D3--resistant fibroblasts have immunoassayable 1,25-dihydroxyvitamin D3 receptors

JW Pike, S Dokoh, MR Haussler, UA Liberman, SJ Marx, and C Eil

Cultured fibroblasts obtained from patients with tissue resistance to 1,25-dihydroxyvitamin D3 (vitamin D3--dependent rickets, type II) contain normal, low, or undetectable concentrations of this hormone's receptor protein as measured by a ligand-binding assay. Extracts from these cells were evaluated for receptors by immunoassay with a recently developed monoclonal antibody to the chick receptor. The results show that a protein sedimenting at 3.7S and recognizable by the antibody exists in comparable concentrations in cells from both normal and resistant patients, irrespective of the hormone-binding abnormalities of the cells. This implies that deficiencies in hormone binding associated with inherited tissue resistance to 1,25-dihydroxyvitamin D3 probably arise from structural variations in the receptor molecule and not from defective receptor synthesis.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Estrogen-Receptor Polymorphisms and Effects of Estrogen Replacement on High-Density Lipoprotein Cholesterol in Women with Coronary Disease.
D. M. Herrington, T. D. Howard, G. A. Hawkins, D. M. Reboussin, J. Xu, S. L. Zheng, K. B. Brosnihan, D. A. Meyers, and E. R. Bleecker (2002)
N. Engl. J. Med. 346, 967-974
   Abstract »    Full Text »    PDF »
The Vitamin D Receptor and the Syndrome of Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets.
P. J. Malloy, J. W. Pike, and D. Feldman (1999)
Endocr. Rev. 20, 156-188
   Abstract »    Full Text »
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets.
M. Hughes, P. Malloy, D. Kieback, R. Kesterson, J. Pike, D Feldman, and B. O'Malley (1988)
Science 242, 1702-1705
   Abstract »    PDF »


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