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Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.
Thyroid Study Unit, University of Chicago, IL 60637.
The syndrome of generalized resistance to thyroid hormone is characterized by elevated circulating levels of thyroid hormone in the presence of an overall eumetabolic state and failure to respond normally to triiodothyronine. We have evaluated a family with inherited generalized resistance to thyroid hormone for abnormalities in the thyroid hormone nuclear receptors. A single guanine----cytosine replacement in the codon for amino acid 340 resulted in a glycine----arginine substitution in the hormone-binding domain of one of two alleles of the patient's thyroid hormone nuclear receptor beta gene. In vitro translation products of this mutant human thyroid hormone nuclear receptor beta gene did not bind triiodothyronine. Thus, generalized resistance to thyroid hormone can result from expression of an abnormal thyroid hormone nuclear receptor molecule.
PMID: 2510172 [PubMed - indexed for MEDLINE]
PMCID: PMC298414
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Cited by 22 PubMed Central articles
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Thyroid hormone receptor alpha is a molecular switch of cardiac function between fetal and postnatal life.
Mai W, Janier MF, Allioli N, Quignodon L, Chuzel T, Flamant F, Samarut J.
Proc Natl Acad Sci U S A. 2004 Jul 13; 101(28):10332-7. Epub 2004 Jul 6.
[Proc Natl Acad Sci U S A. 2004]
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Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.
Weiss RE, Weinberg M, Refetoff S.
J Clin Invest. 1993 Jun; 91(6):2408-15.
[J Clin Invest. 1993]
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Interaction of human beta 1 thyroid hormone receptor and its mutants with DNA and retinoid X receptor beta. T3 response element-dependent dominant negative potency.
Meier CA, Parkison C, Chen A, Ashizawa K, Meier-Heusler SC, Muchmore P, Cheng SY, Weintraub BD.
J Clin Invest. 1993 Oct; 92(4):1986-93.
[J Clin Invest. 1993]
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Patient Drug Information
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Thyroid (Armour® Thyroid)
Thyroid is a hormone produced by the body. When taken correctly, thyroid is used to treat the symptoms of hypothyroidism (a condition where the thyroid gland does not produce enough thyroid hormone). Symptoms of hypothyr...
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Levothyroxine (Levothroid® , Levoxyl® , Synthroid® , ...)
Levothyroxine, a thyroid hormone, is used to treat hypothyroidism, a condition where the thyroid gland does not produce enough thyroid hormone. Without this hormone, the body cannot function properly, resulting in poor g...
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Liothyronine (Cytomel® )
Liothyronine, a thyroid hormone, is used to treat hypothyroidism, a condition where the thyroid gland does not produce enough thyroid hormone. Without this hormone, the body cannot function properly, resulting in poor gr...