Thyroid hormone resistance syndrome: correlation of dominant negative activity and location of mutations.

doi:10.1210/jcem.77.4.8408475

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Article

Thyroid hormone resistance syndrome: correlation of dominant negative activity and location of mutations.

The Journal of clinical endocrinology and metabolism - 1 Oct 1993

Nagaya T, Eberhardt N L, Jameson J L

Abstract excerpt

Generalized resistance to thyroid hormone (GRTH) is caused by multiple distinct mutations that cluster in two regions of the hormone-binding domain of the thyroid hormone beta-receptor. The mutant receptors are functionally inactive, but nevertheless inhibit normal receptor activity in a dominant...

Topics

Base Sequence
Cells, Cultured
DNA
Genotype
Humans
Molecular Sequence Data
Mutation
Oligonucleotides
Phenotype
Protein Biosynthesis
Receptors, Thyroid Hormone
Thyroid Diseases
Transcription, Genetic
Transfection
Triiodothyronine

Source

Open in PubMed

Identifiers

PMID: 8408475
DOI: 10.1210/jcem.77.4.8408475

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8408475-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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