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Article

Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone.

The Journal of clinical investigation - 1 May 1993

Mixson A J, Hauser P, Tennyson G, Renault J C, Bodenner D L, Weintraub B D

Abstract excerpt

Thyroid hormone resistance (THR) is primarily an autosomal dominant inherited disease characterized by resistance of pituitary and peripheral tissues to the action of thyroid hormone. We investigated whether the heterogeneous phenotypic features that occur not only among kindreds but also within the same kindred might be due to the expression of differing ratios of mutant and normal receptors in tissues. Using an...

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Identifiers

PMID: 8486789
DOI: 10.1172/JCI116458
PMCID: PMC288234

Genes

TRH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone.PMID 8486789Read ↗

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Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone.Semantic proximity Read ↗

Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene.Semantic proximity Read ↗

Thyroid hormone resistance syndrome: correlation of dominant negative activity and location of mutations.Semantic proximity Read ↗

Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.Semantic proximity Read ↗

Resistance to thyroid hormone.Semantic proximity Read ↗

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Dominant negative inhibition by mutant thyroid hormone receptors is thyroid hormone response element and receptor isoform specific.Semantic proximity Read ↗

Isoform variable action among thyroid hormone receptor mutants provides insight into pituitary resistance to thyroid hormone.Semantic proximity Read ↗

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