The DOI matches its Crossref record; 40 of the 41 references it cites were found in a registry or an index.
Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance
Open accessAbstract
Familial glucocorticoid resistance is a hypertensive, hyperandrogenic disorder characterized by increased serum cortisol concentrations in the absence of stigmata of Cushing's syndrome. Our previous studies of the first reported kindred showed a two- to threefold reduction in glucocorticoid receptor-ligand binding affinity in the propositus, and a lesser reduction in affinity in his mildly affected son and nephew. Glucocorticoid receptor cDNA from these three patients was amplified by polymerase chain reaction and sequenced. The cDNA nucleotide sequence was normal, except for nucleotide 2054, which substituted valine for aspartic acid at amino acid residue 641. The propositus was homozygous while the other relatives were heterozygous for the mutation. COS-7 monkey kidney cells were cotransfected with expression vectors for either wild type or Val 641-mutant receptors, together with the reporter plasmid pMMTV-CAT. Dexamethasone increased chloramphenicol acetyltransferase activity in cells expressing wild type receptor, but had no effect in cells expressing Val 641-mutant receptors, despite similar receptor concentrations, as indicated by Western blotting. The binding affinity for dexamethasone of the Val 641-mutant receptor was threefold lower than that of the wild type receptor. These results suggest that glucocorticoid resistance in this family is due to a point mutation in the steroid-binding domain of the glucocorticoid receptor.
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“Patients may be homozygous for missense mutations (635) or heterozygous for a gene deletion (636), so that in each case some GR activity remains.”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [635]
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Cites
DNA sequencing with chain-terminating inhibitors
Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572
Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction
Chomczynski, P., & Sacchi, N. (1987) · Analytical Biochemistry · doi:10.1006/abio.1987.9999 · Cited by 65,515
Detection of specific sequences among DNA fragments separated by gel electrophoresis
Southern, E. M. (1975) · Journal of Molecular Biology · doi:10.1016/s0022-2836(75)80083-0 · Cited by 32,245
Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase
Saiki, R. K., Gelfand, D. H., Stoffel, S., Scharf, S. J., Higuchi, R., Horn, G. T., Mullis, K. B., & Erlich, H. A. (1988) · Science · doi:10.1126/science.2448875 · Cited by 17,719
Recombinant Genomes Which Express Chloramphenicol Acetyltransferase in Mammalian Cells
Gorman, C., Moffat, L. F., & Howard, B. H. (1982) · Molecular and Cellular Biology · doi:10.1128/mcb.2.9.1044 · Cited by 7,674
Site-directed mutagenesis by overlap extension using the polymerase chain reaction
Ho, S. N., Hunt, H. D., Horton, R. M., Pullen, J. K., & Pease, L. R. (1989) · Gene · doi:10.1016/0378-1119(89)90358-2 · Cited by 7,414
The Steroid and Thyroid Hormone Receptor Superfamily
Evans, R. M. (1988) · Science · doi:10.1126/science.3283939 · Cited by 7,394
Lipofection: a highly efficient, lipid-mediated DNA-transfection procedure.
Felgner, P. L., Gadek, T. R., Holm, M., Roman, R., Chan, H. W., Wenz, M., Northrop, J. P., RINGOLD, G. M., & Danielsen, M. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.21.7413 · Cited by 4,954
Gene regulation by steroid hormones
Beato, M. (1989) · Cell · doi:10.1016/0092-8674(89)90237-7 · Cited by 3,383
Arriza, J. L., Weinberger, C., Cerelli, G., Glaser, T. M., Handelin, B. L., Housman, D. E., & Evans, R. M. (1987) · Science · doi:10.1126/science.3037703 · Cited by 1,946
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The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458
Molecular Mechanisms of Human Hypertension
Lifton, R. P., Gharavi, A. G., & Geller, D. S. (2001) · Cell · doi:10.1016/s0092-8674(01)00241-0 · Cited by 1,686
Molecular Determinants of Glucocorticoid Receptor Function and Tissue Sensitivity to Glucocorticoids
Bamberger, C. M., Schulte, H. M., & Chrousos, G. P. (1996) · Endocrine Reviews · doi:10.1210/edrv-17-3-245 · Cited by 912
Efficacy and Safety of Inhaled Corticosteroids: New Developments
Barnes, P. J., Pedersen, S., & BUSSE, W. W. (1998) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.157.3.157315 · Cited by 749
Glucocorticoid receptor beta, a potential endogenous inhibitor of glucocorticoid action in humans
Bamberger, C. M., Bamberger, A. M., de Castro, M., & Chrousos, G. P. (1995) · Journal of Clinical Investigation · doi:10.1172/jci117943 · Cited by 642
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Metadata
- Authors
- Hurley, D. M., Accili, D., Stratakis, C. A., Karl, M., Vamvakopoulos, N., Rorer, E., Constantine, K., Taylor, S. I., & Chrousos, G. P.
- Affiliations
- National Institutes of Health (US)
- Venue
- Journal of Clinical Investigation
- Published
- 1991-02-01
- Volume
- 87
- Issue
- 2
- Pages
- 680-686
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2106470286
- Cited by
- 370
- References
- 41
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 2 · 2023: 5 · 2022: 3 · 2021: 5 · 2020: 6 · 2019: 10 · 2018: 4 · 2017: 6 · 2016: 7 · 2015: 11 · 2014: 5 · 2013: 9 · 2012: 13
- FWCI
- 11.65
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Endocrinology › Estrogen and related hormone effects
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
- Keywords
- glucocorticoid receptor, point mutations, amino acid substitutions, hormone-binding domain, steroid binding affinity, dexamethasone, hyperandrogenism, hypertension, cortisol, heterozygous mutation, homozygous mutation, familial kindred
- MeSH terms
- Amino Acids, Autoradiography, Base Sequence, DNA, Glucocorticoids, Humans, Male, Molecular Sequence Data, Nucleic Acid Hybridization, Pedigree, Plasmids, Receptors, Glucocorticoid, RNA, Blotting, Western, Polymerase Chain Reaction, Mutagenesis, Site-Directed
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