Associated Papers
Structural Insights Into Thyroid Hormone Receptors.
Tambones I et al.
Endocrinology, 2024
Resistance to Thyroid Hormone Beta Due to THRB Mutation in a Patient Misdiagnosed With TSH-Secreting Pituitary Adenoma.
Liao W et al.
Jcem Case Reports, 2024
An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders.
Tagami T
Endocrine Journal, 2021
Resistance to Thyroid Hormone Beta: A Focused Review.
Pappa T et al.
Frontiers in Endocrinology, 2021
Thyroid hormone resistance from newborns to adults: a Spanish experience.
Vela A et al.
Journal of Endocrinological Investigation, 2019
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.
Choi JH et al.
Hormone Research in Paediatrics, 2018
Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature.
Guo QH et al.
Medicine, 2016
Thyroid hormone resistance due to a novel THRß mutation.
Ho CW et al.
Annals of the Academy of Medicine, Singapore, 2014
Molecular basis of resistance to thyroid hormone.
Yen PM
Trends in Endocrinology and Metabolism: Tem, 2003
Germline and somatic thyroid hormone receptor mutations in man.
Yen PM et al.
Journal of Endocrinological Investigation, 2003
Somatic mutation of TRbeta can cause a defect in negative regulation of TSH in a TSH-secreting pituitary tumor.
Ando S et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Three novel mutations at serine 314 in the thyroid hormone beta receptor differentially impair ligand binding in the syndrome of resistance to thyroid hormone.
Gurnell M et al.
Endocrinology, 1999
A novel TR beta mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation.
Clifton-Bligh RJ et al.
Molecular Endocrinology (baltimore, Md.), 1998
Amino acid substitutions of thyroid hormone receptor-beta at codon 435 with resistance to thyroid hormone selectively alter homodimer formation.
Nomura Y et al.
Endocrinology, 1996
Three novel mutations of thyroid hormone receptor beta gene in unrelated patients with resistance to thyroid hormone: two mutations of the same codon (H435L and H435Q) produce separate subtypes of resistance.
Tsukaguchi H et al.
The Journal of Clinical Endocrinology and Metabolism, 1995
Phenotype variability and different genotype of four patients with thyroid hormone resistance syndrome due to variants in the THRB gene.
Toumba M et al.
Hippokratia, 0