Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta GeneResistance to thyroid hormonethyroid hormone receptor betamutationResistance to thyroid hormone (RTH) is an inherited syndrome of reduced sensitivity to thyroid hormone (TH), usually due to mutations in the ...
Thyroid hormone actionWe report a family with thyroid hormone resistance caused by a novel mutation M442T in the thyroid hormone receptor beta (TRbeta) gene. The 59-year-old propositus and one of his two daughters had typical clinical signs of reduced responsiveness of tissues to thyroid ...
Successful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report. BMC Endocr Disord. 2016;16:1. Article Google Scholar Kurozumi A, Okada Y, Arao T, et al. A case of resistance to thyroid hormone (RTH) with a negative...
Mutations in thyroid hormone receptor α1 (TRα1) cause Resistance to Thyroid Hormone α (RTHα), a disorder characterized by hypothyroidism in TRα1-expressing tissues including the heart. Surprisingly, we report that treatment of RTHα patients with thyroxine to overcome tissue hormone resistance...
Resistance to thyroid hormone (RTH), usually caused by an inherited defect of the thyroid hormone receptor, (TRbeta), results in a reduced responsiveness of target tissues to thyroid hormone. Until now, more than 600 cases with RTH have been identified. Although usually linked to the TRbeta ...
It has long been suspected that RTH is most likely caused by an abnormal thyroid hormone receptor (TR), but this hypothesis could not be directly tested until the isolation of two TR genes, TR alpha and TR beta, located in chromosomes 17 and 3, respectively. TR beta gene mutations have ...
The syndrome of resistance to thyroid hormone (RTH β) is an inherited disorder characterized by variable tissue hyposensitivity to 3,5,30-L-triiodothyronine (T(3)), with persistent elevation of free-circulating ...
A new family with resistance to thyroid hormone (RTH) harboring a mutation in the thyroid hormone receptor (TR) beta gene (R320C) is reported. The phenotype of affected members is compared to that of affected members of an unrelated family with an identical mutation in the gene that occurred...
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ) 2019, Molecular Diagnosis and Therapy Thyroid-hormone-dependent negative regulation of thyrotropin β gene by thyroid hormone receptors: Study with a new experimental system using CV1 cells 2004, Biochemical Journal Very strong correlatio...
Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective c... (1996) Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes ...