Associated Papers
Resmetirom Is an Effective Thyromimetics for the Chemical Rescue of Thyroid Hormone Receptor Mutants.
Mitsutani M et al.
Biological & Pharmaceutical Bulletin, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Comparative Phenotyping of Mice Reveals Canonical and Noncanonical Physiological Functions of TRα and TRβ.
Hönes GS et al.
Endocrinology, 2024
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity.
Dieu X et al.
Journal of Clinical Medicine, 2020
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
SNP mutations occurring in thyroid hormone receptor influenced individual susceptibility to triiodothyronine: Molecular dynamics and site-directed mutagenesis approaches.
Liu Y et al.
Journal of Cellular Biochemistry, 2018
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T).
Wu SY et al.
The Journal of Laboratory and Clinical Medicine, 2005
Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant.
Phillips SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Physiological and molecular basis of thyroid hormone action.
Yen PM
Physiological Reviews, 2001
Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes.
Reutrakul S et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Quantitative analysis of DNA binding affinity and dimerization properties of wild-type and mutant thyroid hormone receptor beta1.
Takeda T et al.
Thyroid : Official Journal of the American Thyroid Association, 2000
DNA binding affinity of hTRbeta1 mutants as heterodimers with traps from different tissues.
Takeda T et al.
Biochimie, 1999
Novel insight from transgenic mice into thyroid hormone resistance and the regulation of thyrotropin.
Abel ED et al.
The Journal of Clinical Investigation, 1999
Molecular basis of resistance to thyroid hormone (RTH).
Nagaya T et al.
Endocrine Journal, 1998
A novel natural mutation in the thyroid hormone receptor defines a dual functional domain that exchanges nuclear receptor corepressors and coactivators.
Tagami T et al.
Molecular Endocrinology (baltimore, Md.), 1998
[Thyroid hormone receptors and the disorders].
Nagaya T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998
Selective pituitary resistance to thyroid hormone produced by expression of a mutant thyroid hormone receptor beta gene in the pituitary gland of transgenic mice.
Hayashi Y et al.
Biochemical and Biophysical Research Communications, 1998
Ligand- and nuclear factor-dependent change in hydrophobicity of thyroid hormone beta1 receptor.
Sakurai A et al.
Thyroid : Official Journal of the American Thyroid Association, 1998
Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity.
Yagi H et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
The function of retinoid X receptors on negative thyroid hormone response elements.
Takeda T et al.
Molecular and Cellular Endocrinology, 1997
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 cofactor.
Weiss RE et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
Introducing a point mutation identified in a patient with pituitary resistance to thyroid hormone (Arg 338 to Trp) into other mutant thyroid hormone receptors weakens their dominant negative activities.
Ando S et al.
The Journal of Endocrinology, 1996
Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone.
Hayashi Y et al.
The Journal of Clinical Investigation, 1994
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K.
Beck-Peccoz P et al.
Journal of Endocrinological Investigation, 1994
Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK.
Beck-Peccoz P et al.
European Journal of Endocrinology, 1994
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11th 1993, Cambridge, U.K.
Beck-Peccoz P et al.
Thyroid : Official Journal of the American Thyroid Association, 1994
Thyroid hormone receptor mutants that cause resistance to thyroid hormone. Evidence for receptor competition for DNA sequences in target genes.
Nagaya T et al.
The Journal of Biological Chemistry, 1992
Interaction of thyroid hormone and hemoglobin. I. Nature of the interaction and effect of hemoglobin on thyroid hormone radioimmunoassay.
Davis PJ et al.
The Journal of Laboratory and Clinical Medicine, 1980