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Mild resistance to thyroid hormone with a truncated thyroid hormone receptor ß
Experimental and Clinical Endocrinology & Diabetes, 2009Recent studies have revealed mutations in the thyroid hormone receptor beta (TR beta) gene as a cause of the most cases of the thyroid hormone resistance syndrome. We have identified a novel nonsense mutation in codon 449 in the 3' end of exon 10 in the TR beta gene in a 16-year-old male patient with generalized resistance to thyroid hormone who also ...
M, Taniyama +8 more
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Resistance to thyroid hormone mediated by defective thyroid hormone receptor alpha
Biochimica et Biophysica Acta (BBA) - General Subjects, 2013Thyroid hormone acts via receptor subtypes (TRα1, TRβ1, TRβ2) with differing tissue distributions, encoded by distinct genes (THRA, THRB). THRB mutations cause a disorder with central (hypothalamic-pituitary) resistance to thyroid hormone action with markedly elevated thyroid hormone and normal TSH levels.This review describes the clinical features ...
Schoenmakers, N +5 more
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American Journal of Physiology-Endocrinology and Metabolism, 2003
Isoforms of the thyroid hormone receptor ( TR) α and TRβ genes mediate thyroid hormone action. How TR isoforms modulate tissue-specific thyroid hormone (TH) action remains largely unknown. The steroid receptor coactivator-1 (SRC-1) is among a group of transcriptional coactivator proteins that bind to TRs, along with other members of the nuclear ...
Sadow, P.M. +6 more
openaire +3 more sources
Isoforms of the thyroid hormone receptor ( TR) α and TRβ genes mediate thyroid hormone action. How TR isoforms modulate tissue-specific thyroid hormone (TH) action remains largely unknown. The steroid receptor coactivator-1 (SRC-1) is among a group of transcriptional coactivator proteins that bind to TRs, along with other members of the nuclear ...
Sadow, P.M. +6 more
openaire +3 more sources
Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance
Trends in Endocrinology & Metabolism, 2005Thyroid hormone receptors (TRs) are ligand-dependent transcription factors that mediate the biological activities of thyroid hormone (T3). Two THR genes (A and B), located on different chromosomes, yield four T3-binding isoforms with highly conserved sequences in the DNA- and ligand-binding domains.
openaire +2 more sources
A Comprehensive Review of Thyroid Hormone Metabolism in the Gut and Its Clinical Implications
Thyroid, 2023Eveline Bruinstroop +2 more
exaly
A Historical Reflection on Scientific Advances in Understanding Thyroid Hormone Action
Thyroid, 2023Gregory Brent
exaly

