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
Cardiovascular morbidity and mortality in patients in Wales, UK with resistance to thyroid hormone β (RTHβ): a linked-record cohort study.
Okosieme OE et al.
The Lancet. Diabetes & Endocrinology, 2023
Central hyperthyroidism combined with Graves' disease: case series and review of the literature.
Mo C et al.
European Thyroid Journal, 2023
The clinical characteristics and gene mutations associated with thyroid hormone resistance syndrome coexisting with pituitary tumors.
Zhao J et al.
Frontiers in Endocrinology, 2023
A case of mood disorder with severe side effects of antidepressants in association with resistance to thyroid hormone beta with a THRB mutation.
Komahashi-Sasaki H et al.
Neuropsychopharmacology Reports, 2022
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
Pituitary hyperplasia mimicking thyrotropin-producing pituitary adenoma in the patient with resistance to thyroid hormone: a case report.
Suntornlohanakul O et al.
The International Journal of Neuroscience, 2022
Autoimmune thyroid disease and thyroid function test fluctuations in patients with resistance to thyroid hormone.
Okazaki-Hada M et al.
European Journal of Endocrinology, 2021
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 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
Resistance to Thyroid Hormone Beta: A Focused Review.
Pappa T et al.
Frontiers in Endocrinology, 2021
Thyroid hormone resistance syndrome with P453T mutation in thyroid hormone receptor β gene: A pedigree report.
Yusufu A et al.
Medicine, 2020
Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity.
Dieu X et al.
Journal of Clinical Medicine, 2020
A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance.
Korwutthikulrangsri M et al.
European Thyroid Journal, 2019
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
Novel Mutation (T273R) in Thyroid Hormone Receptor β Gene Provides Further Insight into Cryptic Negative Regulation by Thyroid Hormone.
Kaššák F et al.
Folia Biologica, 2017
Resistance to Thyroid Hormone α-Emerging Definition of a Disorder of Thyroid Hormone Action.
Moran C et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review.
Anyfantakis A et al.
Case Reports in Endocrinology, 2016
A mechanism for pituitary-resistance to thyroid hormone (PRTH) syndrome: a loss in cooperative coactivator contacts by thyroid hormone receptor (TR)beta2.
Lee S et al.
Molecular Endocrinology (baltimore, Md.), 2011
Thyroid hormone receptor mutations in cancer and resistance to thyroid hormone: perspective and prognosis.
Rosen MD et al.
Journal of Thyroid Research, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 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
A thyroid hormone receptor mutation that dissociates thyroid hormone regulation of gene expression in vivo.
Machado DS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome.
Ferreira Azevedo M et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
A child with resistance to thyroid hormone without thyroid hormone receptor gene mutation: a 20-year follow-up.
Hamon B et al.
Thyroid : Official Journal of the American Thyroid Association, 2008
A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone.
Rivolta CM et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004
[Thyroid hormone resistance syndrome].
Carvalho GA et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor beta gene causes resistance to thyroid hormone.
Rivolta CM et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004
Three Japanese patients from two families with generalized resistance to thyroid hormone with mutations in exon 9 of the thyroid hormone receptor beta gene.
Taniyama M et al.
Internal Medicine (tokyo, Japan), 2001
Physiological and molecular basis of thyroid hormone action.
Yen PM
Physiological Reviews, 2001
Hormone selectivity in thyroid hormone receptors.
Wagner RL et al.
Molecular Endocrinology (baltimore, Md.), 2001
A pituitary tumor in a patient with thyroid hormone resistance: a diagnostic dilemma.
Safer JD et al.
Thyroid : Official Journal of the American Thyroid Association, 2001
The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone.
Safer JD et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Molecular basis of resistance to thyroid hormone (RTH).
Nagaya T et al.
Endocrine Journal, 1998
A role for helix 3 of the TRbeta ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone.
Collingwood TN et al.
The Embo Journal, 1998
[Thyroid hormone receptors and the disorders].
Nagaya T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998
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
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