Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribers receive full online access to your subscription and archive of back issues up to and including 2002.
Content published before 2002 is available via pay-per-view purchase only.
Subscribe:
Subscribe to Clinics in Laboratory MedicineReferences
- Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome.Clin Endocrinol. 1992; 36: 281-289
- Pseudohypoparathyroidism—an example of Seabright bantam syndrome.Endocrinology. 1942; 30: 922-932
- A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA/3 thyroid hormone receptor in a family with generalized thyroid hormone resistance.Mol Endocrinol. 1992; 6: 1119-1126
- Pituitary resistance to thyroid hormone in cystinosis.I Clin Endocrinol Metab. 1980; 51: 1262-1268
- Abnormalities of triiodothyronine binding to lympho-cyte and fibroblast nuclei from a patient with peripheral resistance to thyroid hormone action.J Clin Endocrinol Metab. 1978; 47: 1266-1272
- Single base mutation in the hormone binding domain of the thyroid hormone receptor β gene in generalized thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis.Biochem Biophys Res Commun. 1991; 178: 606-612
- Generalized thyroid hormone resistance: Identification of an arginine to cystine mutation in codon 315 of the c-erb A beta thyroid hormone receptor.J Endocrinol Invest. 1992; 15: 573-579
- Resistance to thyroid hormone diagnosed by the reduced response of fibroblasts to the triiodothyronine induced suppression of fibronectin synthesis.J Clin Endocrinol Metab. 1987; 65: 242-246
- Defective thyroid hormone action in fibroblasts cultured from subjects with the syndrome of resistance to thyroid hormones.J Clin Endocrinol Metab. 1982; 54: 767-772
- Clinical and genetic analysis of eleven families with generalized thyroid hormone resistance syndrome [abstr]. 74th Annual Meeting of The Endocrine Society, San Antonio, TX1992
- Thyroid hormone resistance syndrome. Inhibition of normal receptor function by mutant thyroid hormone receptors.J Clin Invest. 1991; 87: 1977-1984
- An arginine to histidine mutation in codon 315 of the c-erbAβ thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3′triiodothyronine binding activity.J Clin Endocrinol Metab. 1992; 74: 1164-1170
- Inappropriate secretion of thyrotropin by the pituitary.Hormone Res. 1987; 26: 79-99
- Thyroid-stimulating hormone-induced hyperthyroidism.in: Imura H. The Pituitary Gland. Raven Press, New York1985: 467-499
- An arginine to histidine mutation in codon 311 of the C-erbAβ gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype.J Clin Invest. 1993; 91: 538-546
- Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone: A new syndrome of inappropriate secretion of TSH.J Clin Invest. 1975; 56: 633-642
- Characterization of a new thyroid hormone receptor mutant in generalized resistance to thyroid hormone [abstr].Thyroid. 1992; 21: 57
- Severe generalized thyroid hormone resistance due to a sporadic mutation in the c-erbA/3 gene producing a turncated T3 receptor protein [abstr]. 74th Annual Meeting of The Endocrine Society, San Antonio, TX1992
- The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products.J Clin Endocrinol Metab. 1993; 76: 64-69
- Partial peripheral resistance to thyroid hormone.Am J Med. 1981; 70: 1115-1121
- Euthyroid hyperthyroxinemia due to a generalized 5′-deiodinase defect.J Clin Endocrinol Metab. 1988; 66: 684-688
- Inhibition of thyroid hormone action by non-hormone binding c-erb-A protein generated by alternative splicing.Nature. 1989; 337: 659-661
- Intracellular pathways of iodothyronine metabolism.in: Braverman L.E. Utiger R.D. Werner’s and Ingbar’s The Thyroid. JB Lippincott, Philadelphia1991: 144-186
- Rapid pituitary and peripheral tissue responses to intravenous L-triiodothyronine in hypothyroidism.J Clin Endocrinol Metab. 1983; 56: 1252
- Nuclear binding of triiodothyronine and thyroxine in lymphocytes from subjects with hyperthyroidism, hypothyroidism and resistance to thyroid hormones.Clin Chem Acta. 1978; 83: 41-48
- Familial generalized resistance to thyroid hormones: Report of three kindreds and correlation of patterns of affected tissues with the binding of [125I] triiodothyronine to fibroblast nuclei.J Endocrinol Invest. 1988; 9: 459-470
- Familial elevation of total and free thyroxine in healthy, euthyroid subjects without detectable binding protein abnormalities.Acta Endocrinol. 1982; 100: 224-230
- Correlations of language abnormalities with localization of mutations in the β-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: Identification of four new mutations.J Clin Endocrinol Metab. 1992; 75: 1039-1045
- Identification of a novel mutation in the gene encoding the β-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone.Clin Endocrinol. 1993; 38: 227-234
- Hormonal regulation of glycosaminoglycan accumulation in fibroblasts from patients with resistance to thyroid hormone.J Clin Endocrinol Metab. 1983; 57: 1233-1239
- Thyroid hormone receptor mutants that cause resistance to thyroid hormone. Evidence for receptor competition for DNA sequences in target genes.J Biol Chem. 1992; 267: 13014-13019
- T3 effects on protein phosphorylation in cultured skin fibroblasts from normal subjects and patients with peripheral resistance to thyroid hormone [abstr]. The Second Asia and Oceania Thyroid Association Meeting, Tokyo, Japan1982
- Analysis of the T3 receptor genes in patients with generalized resistance to thyroid hormone and selective pituitary form [abstr].Thyroid. 1992; 21: 36
- Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone.J Clin Endocrinol Metab. 1991; 73: 990-994
- Specific-nuclear triiodothyronine binding sites in rat liver and kidney.J Clin Endocrinol Metab. 1972; 35: 330-333
- Characterization of seven novel mutations of the c-erbAβ gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two “hot spot” regions of the ligand binding domain.J Clin Invest. 1991; 88: 2123-2130
- Identification of a new missense mutation of thyroid hormone receptor β gene in affected members of a family with generalized thyroid hormone resistance [abstr].Thyroid. 1992; 21: 28
- Inherited thyroxine-binding globulin (TBG) abnormalities in man.Endocr Rev. 1989; 10: 275-293
- Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone.Metabolism. 1972; 21: 723-756
- Familial syndrome combining deaf-mutism, stippled epiphyses, goiter, and abnormally high PBI: Possible target organ refractoriness to thyroid hormone.J Clin Endocrinol Metab. 1967; 27: 279-294
- The consequences of inappropriate treatment due to failure to recognize the syndrome of pituitary and peripheral tissue resistance to thyroid hormone.Metabolism. 1983; 32: 822-834
Refetoff S, Weiss RE, Usala SJ: The syndromes of resistance to thyroid hormone. Endo Rev (in press), 1993
- Familial hyperthyroidism due to inappropriate thyrotropin secretion successfully treated with triiodothyronine.J Clin Endocrinol Metab. 1982; 54: 76-82
- Familial dysalbuminemic hyperthyroxinemia: A syndrome that can be confused with thyrotoxicosis.N Engl J Med. 1982; 306: 635-639
- Autoantibodies against thyroid hormones or iodothyronine. Implications in diagnosis, thyroid function, treatment, and pathogenesis.Ann Intern Med. 1985; 103: 579-589
- Dominant negative transcriptional regulation by a mutant thyroid hormone receptor β in a family with generalized resistance to thyroid hormone.Mol Endocrinol. 1990; 4: 1988-1994
- Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor β.Proc Natl Acad Sci (USA). 1989; 86: 8977-8981
- The c-erb-A protein is a high-affinity receptor for thyroid hormone.Nature. 1986; 324: 635-640
- Sex hormone binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: The value of changes following short-term triiodothyronine administration.J Clin Endocrinol Metab. 1988; 66: 740-746
- Serum thyrotropin and prolactin in the syndrome of generalized resistance to thyroid hormone: Responses to thyrotropinreleasing hormone stimulation and triiodothyronine suppression.J Clin Endocrinol Metab. 1990; 70: 1305-1311
- A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone.Mol Cell Endocrinol. 1992; 84: 159-166
- A point mutation in the 3,5,3′-triiodothyronine-binding domain of thyroid hormone receptor β associated with a family with generalized resistance to thyroid hormone.J Clin Endocrinol Metab. 1992; 75: 213-217
Sobieszczyk S, Refetoff S: Abnormal response of fibronectin messenger RNA to triiodothyronine in fibroblasts from patients with generalized resistance to thyroid hormone [abstr]. 63rd Annual Meeting of the American Thyroid Association, Montreal, Quebec
- Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor β gene and the detection of a new mutation.J Clin Invest. 1991; 87: 496-502
- Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-β gene.J Clin Endocrinol Metab. 1992; 74: 49-55
- Rapid location of mutations in the thyroid hormone receptor β gene by denaturing gradient gel electrophoresis in eighteen families with thyroid hormone resistance.J Clin Endocrinol Metab. 1992; 74: 712-719
- An analysis of the thyroid hormone receptor genes in patients with generalized thyroid hormone resistance [abstr].Thyroid. 1992; 21: 57
- Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA/3 gene.Mol Endocrinol. 1988; 2: 1217-1220
- A homozygous deletion in the c-erbAβ thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor.Mol Endocrinol. 1991; 5: 327-335
- A new point mutation in the 3,5,3′-triiodothyronine-binding domain of the c-erbAβ thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.J Clin Endocrinol Metab. 1991; 72: 32-38
- A base mutation of the c-erbβ thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.J Clin Invest. 1990; 85: 93-100
- The c-erb-A gene encodes a thyroid hormone receptor.Nature. 1986; 324: 641-646
- Inappropriate secretion of thyroid stimulating hormone.Ann Intern Med. 1981; 95: 339-351
- Neonatal detection of generalized resistance to thyroid hormone.JAMA. 1990; 264: 2245-2250
- Multiple genetic factors in the heterogeneity of thyroid hormone resistance.J Clin Endocrinol Metab. 1993; 76: 257-259
Weiss RE, Weinberg M, Refetoff S: Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in CG-rich areas of the thyroid hormone receptor beta gene: Analysis of fifteen families. J Clin Invest 91: (in press), 1993
- The Seabright Bantam chicken and the genetic control of extraglandular aroma tase.Endocr Rev. 1987; 8: 363-376
- Familial resistance to thyroid hormone associated with decreased transport across the plasma membrane.Ann Intern Med. 1983; 98: 904-909
- New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone.J Clin Invest. 1992; 90: 1825-1831
Article info
Footnotes
Supported in part by United States National Institutes of Health (grant DK 15,070) and Public Health Service (grant RR 00,055).
Portions of this text have been excerpted from Refetoff S: Clinical and genetic aspects of resistance to thyroid hormone. The Endocrinologist 2:261-271, 1992; with permission.