Associated Papers
[Resistance to thyroid hormone syndrome with developmental disorders in two children].
Liao LY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2026
Resmetirom Is an Effective Thyromimetics for the Chemical Rescue of Thyroid Hormone Receptor Mutants.
Mitsutani M et al.
Biological & Pharmaceutical Bulletin, 2025
Structural Insights Into Thyroid Hormone Receptors.
Tambones I et al.
Endocrinology, 2024
Changes in brain structure in subjects with resistance to thyroid hormone due to THRB mutations.
Rogge B et al.
Thyroid Research, 2023
Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor β Gene Mutation.
Lai HP et al.
International Journal of Molecular Sciences, 2022
Reduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance.
Heldmann M et al.
Endocrine Connections, 2022
Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma-two case reports of a thyroid hormone receptor beta gene mutation and a literature review.
Fang Y et al.
Frontiers in Genetics, 2022
Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β.
Lauffer P et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
Dyslipidemia, Insulin Resistance, Ectopic Lipid Accumulation, and Vascular Function in Resistance to Thyroid Hormone β.
Moran C et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Patients with mutations of the Thyroid hormone beta-receptor show an ADHD-like phenotype for performance monitoring: an electrophysiological study.
Uter J et al.
Neuroimage. Clinical, 2020
Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease.
Jiménez-Panizo A et al.
Endocrine-related Cancer, 2019
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone.
Kimura T et al.
Case Reports in Endocrinology, 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
One Novel and Two Recurrent THRB Mutations Associated with Resistance to Thyroid Hormone: Structure-based Computational Mutation Prediction.
Narumi S et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2010
Resistance to thyroid hormone due to a novel thyroid hormone receptor mutant in a patient with hypothyroidism secondary to lingual thyroid and functional characterization of the mutant receptor.
Nakajima Y et al.
Thyroid : Official Journal of the American Thyroid Association, 2010
Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia.
Mitchell CS et al.
The Journal of Clinical Investigation, 2010
Resistance to thyroid hormone in a patient with thyroid dysgenesis.
Grasberger H et al.
Thyroid : Official Journal of the American Thyroid Association, 2005
Design and synthesis of complementing ligands for mutant thyroid hormone receptor TRbeta(R320H): a tailor-made approach toward the treatment of resistance to thyroid hormone.
Hashimoto A et al.
Bioorganic & Medicinal Chemistry, 2005
Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.
Pohlenz J et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Lack of coactivator interaction can be a mechanism for dominant negative activity by mutant thyroid hormone receptors.
Liu Y et al.
Endocrinology, 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
Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.
Adams M et al.
The Journal of Clinical Investigation, 1994
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
The variable clinical phenotype in thyroid hormone resistance syndrome.
Beck-Peccoz P et al.
Thyroid : Official Journal of the American Thyroid Association, 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