Syndromes of thyroid hormone resistance due to mutations in the T3β receptor: progress in our understanding
P Beck-Peccoz, D Mannavola… - Current Opinion in …, 2000 - journals.lww.com
Thyroid hormone resistance (RTH) is a rare autosomal dominant disorder, characterized
clinically by goiter and biochemically by elevated circulating free thyroid hormone levels in …
clinically by goiter and biochemically by elevated circulating free thyroid hormone levels in …
Syndromes of thyroid hormone resistance
P Beck-Peccoz, D Mannavola, L Persani - Annales d'endocrinologie, 2005 - Elsevier
Thyroid hormone resistance (RTH) is a rare autosomal dominant disorder, characterized
clinically by goiter and biochemically by elevated circulating free thyroid hormone levels in …
clinically by goiter and biochemically by elevated circulating free thyroid hormone levels in …
Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance
S Cheng - Trends in Endocrinology & Metabolism, 2005 - cell.com
Thyroid hormone receptors (TRs) are ligand-dependent transcription factors that mediate the
biological activities of thyroid hormone (T 3). Two THR genes (A and B), located on different …
biological activities of thyroid hormone (T 3). Two THR genes (A and B), located on different …
A De Novo Mutation in an Already Mutant Nucleotide of the Thyroid Hormone Receptor β Gene Perpetuates Resistance to Thyroid Hormone
J Lado-Abeal, AM Dumitrescu, XH Liao… - The Journal of …, 2005 - academic.oup.com
Resistance to thyroid hormone (RTH) is a syndrome of reduced sensitivity to thyroid
hormone, most commonly caused by mutations in the thyroid hormone receptor (TR) β gene …
hormone, most commonly caused by mutations in the thyroid hormone receptor (TR) β gene …
A novel TRβ mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation
RJ Clifton-Bligh, F De Zegher, RL Wagner… - Molecular …, 1998 - academic.oup.com
Resistance to thyroid hormone (RTH) is characterized by elevated serum thyroid hormones,
failure to suppress pituitary TSH secretion, and variable T3 responsiveness in peripheral …
failure to suppress pituitary TSH secretion, and variable T3 responsiveness in peripheral …
The thyroid hormone receptor-β gene mutation R383H is associated with isolated central resistance to thyroid hormone
JD Safer, MG O'connor, SD Colan… - The Journal of …, 1999 - academic.oup.com
Resistance to thyroid hormone (RTH) action is due to mutations in theβ-isoform of the thyroid
hormone receptor (TR-β). RTH patients display inappropriate central secretion of TRH from …
hormone receptor (TR-β). RTH patients display inappropriate central secretion of TRH from …
Syndrome of resistance to thyroid hormone: insights into thyroid hormone action
P Kopp, K Kitajima, JL Jameson - Proceedings of the Society …, 1996 - journals.sagepub.com
Abstract Thyroid hormones (T3, T4) exert multiple cellular effects through nuclear thyroid
hormone receptors (TRα, TRβ). Thyroid hormone receptors are transcription factors that act …
hormone receptors (TRα, TRβ). Thyroid hormone receptors are transcription factors that act …
Resistance to thyroid hormone caused by two mutant thyroid hormone receptors β, R243Q and R243W, with marked impairment of function that cannot be explained …
H Yagi, J Pohlenz, Y Hayashi, A Sakurai… - The Journal of …, 1997 - academic.oup.com
Resistance to thyroid hormone (RTH) is a syndrome of reduced responsiveness to thyroid
hormone caused by mutations in the thyroid hormone receptor β (TRβ) gene. Mutant TRβs …
hormone caused by mutations in the thyroid hormone receptor β (TRβ) gene. Mutant TRβs …
Resistance to thyroid hormone mediated by defective thyroid hormone receptor alpha
N Schoenmakers, C Moran, RP Peeters… - … et Biophysica Acta (BBA …, 2013 - Elsevier
BACKGROUND: Thyroid hormone acts via receptor subtypes (TRα1, TRβ1, TRβ2) with
differing tissue distributions, encoded by distinct genes (THRA, THRB). THRB mutations …
differing tissue distributions, encoded by distinct genes (THRA, THRB). THRB mutations …
A novel mutation (E333D) in the thyroid hormone β receptor causing resistance to thyroid hormone syndrome
M Maraninchi, N Bourcigaux, A Dace… - Experimental and …, 2006 - thieme-connect.com
Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated
serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) …
serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) …