Impaired Adipogenesis Caused by a Mutated Thyroid Hormone α1 Receptor

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Clinical Consequences of Mutations in Thyroid Hormone Receptor-α1.

Thyroid hormone (TH) exerts its biological activity via the TH receptors TRα1 and TRβ1/2, which are encoded by the THRA and THRB genes. The first patients with mutations in THRB were identified decades ago. These patients had a clinical syndrome of resistance to TH associated with high serum TH and nonsuppressed thyroid-stimulating hormone levels. Until recently, no patients with mutations in T...

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Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene

BACKGROUND Thyroid hormone resistance syndrome (THRS) is a rare disorder with increased concentrations of free thyroxine (FT4) and triiodothyronine (FT3), but normal or slightly increased thyroid-stimulating hormone (TSH). The mutations in the thyroid hormone receptor β (THRβ) gene are thought to be the main pathogenesis. OBJECTIVES The aims of this study were to present 1 pedigree of Chinese...

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Identification of thyroid hormone response elements in vivo using mice expressing a tagged thyroid hormone receptor α1

TRα1 (thyroid hormone receptor α1) is well recognized for its importance in brain development. However, due to the difficulties in predicting TREs (thyroid hormone response elements) in silico and the lack of suitable antibodies against TRα1 for ChIP (chromatin immunoprecipitation), only a few direct TRα1 target genes have been identified in the brain. Here we demonstrate that mice expressing a...

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Genetic evidence from patients with mutations of the thyroid hormone receptor α gene (THRA) indicates that the dominant negative activity of mutants underlies the pathological manifestations. However, the molecular mechanisms by which TRα1 mutants exert dominant negative activity in vivo are not clear. We tested the hypothesis that the severe hypothyroidism in patients with THRA mutations is du...

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ژورنال

عنوان ژورنال: Molecular and Cellular Biology

سال: 2007

ISSN: 0270-7306,1098-5549

DOI: 10.1128/mcb.02189-06