The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Point mutations in the Human Vitamin D Receptor Gene Associated with Hypocalcemic Rickets
Abstract
Hypocalcemic vitamin D-resistant rickets is a human genetic disease resulting from target organ resistance to the action of 1,25-dihydroxyvitamin D3. Two families with affected children homozygous for this autosomal recessive disorder were studied for abnormalities in the intracellular vitamin D receptor (VDR) and its gene. Although the receptor displays normal binding of 1,25-dihydroxyvitamin D3 hormone, VDR from affected family members has a decreased affinity for DNA. Genomic DNA isolated from these families was subjected to oligonucleotide-primed DNA amplification, and each of the nine exons encoding the receptor protein was sequenced for a genetic mutation. In each family, a different single nucleotide mutation was found in the DNA binding domain of the protein; one family near the tip of the first zinc finger (Gly→Asp) and one at the tip of the second zinc finger (Arg→Gly). The mutant residues were created in vitro by oligonucleotide directed point mutagenesis of wild-type VDR complementary DNA and this cDNA was transfected into COS-1 cells. The produced protein is biochemically indistinguishable from the receptor isolated from patients.
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Saiki, R. K., Scharf, S., Faloona, F., Mullis, K. B., Horn, G. T., Erlich, H. A., & Arnheim, N. (1985) · Science · doi:10.1126/science.2999980 · Cited by 8,956
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Beato, M. (1989) · Cell · doi:10.1016/0092-8674(89)90237-7 · Cited by 3,383
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Luisi, B. F., Xu, W. X., Otwinowski, Z., Freedman, L. P., Yamamoto, K. R., & Sigler, P. B. (1991) · Nature · doi:10.1038/352497a0 · Cited by 1,503
Regulation of Phosphate Homeostasis by PTH, Vitamin D, and FGF23
Bergwitz, C., & Jüppner, H. (2010) · Annual Review of Medicine · doi:10.1146/annurev.med.051308.111339 · Cited by 741
Transcriptional activation and nuclear targeting signals of the human androgen receptor.
Simental, J. A., Sar, M., Lane, M. V., French, F. S., & Wilson, E. M. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)52466-2 · Cited by 631
Hurley, D. M., Accili, D., Stratakis, C. A., Karl, M., Vamvakopoulos, N., Rorer, E., Constantine, K., Taylor, S. I., & Chrousos, G. P. (1991) · Journal of Clinical Investigation · doi:10.1172/jci115046 · Cited by 370
Ellison, T. I., Smith, M. K., Gilliam, A. C., & MacDonald, P. N. (2008) · Journal of Investigative Dermatology · doi:10.1038/jid.2008.131 · Cited by 159
A life-long search for the molecular pathways of steroid hormone action
O’Malley, B. W. (2005) · Molecular Endocrinology · doi:10.1210/me.2004-0480 · Cited by 124
Self-citationTo grow or not to grow: Hair morphogenesis and human genetic hair disorders
Duverger, O., & Morasso, M. I. (2014) · Seminars in Cell & Developmental Biology · doi:10.1016/j.semcdb.2013.12.006 · Cited by 57
Nuclear receptor superfamily: Principles of signaling
Germain, P., Altucci, L., Bourguet, W., Rochette-Egly, C., & Gronemeyer, H. (2003) · Pure and Applied Chemistry · doi:10.1351/pac200375111619 · Cited by 53
Nakamura, S., Sato, Y., Kobayashi, T., Kaneko, Y., Ito, E., Soma, T., Okada, H., Miyamoto, K., Oya, A., Matsumoto, M., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-69021-y · Cited by 44
Massively parallel functional genomic assays in endocrinology: from promise to delivery
Xu, J., Aslanzadeh, V., Kudla, G., & Semple, R. K. (2026) · Journal of Molecular Endocrinology · doi:10.1530/jme-25-0134
Metadata
- Authors
- Hughes, M. R., Malloy, P. J., Kieback, D. G., Kesterson, R. A., Pike, J. W., Feldman, D., & O'Malley, B. W.
- Venue
- Science
- Published
- 1988-12-23
- Volume
- 242
- Issue
- 4886
- Pages
- 1702-1705
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2086992071
- Cited by
- 502
- References
- 1
- FWCI
- 21.54
- Type
- journal article
- Language
- en
- Open access
- closed
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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