Associated Papers
Novel Thyroid Hormone Receptor β Gene Variant (F245L) Causing Mild Resistance to Thyroid Hormone.
Yamagami K et al.
Jcem Case Reports, 2025
Disease-associated SNP variants of THRβ: Insights into the molecular determinants of aberrant receptor function.
Rehman G et al.
Molecular and Cellular Endocrinology, 2025
Resmetirom Is an Effective Thyromimetics for the Chemical Rescue of Thyroid Hormone Receptor Mutants.
Mitsutani M et al.
Biological & Pharmaceutical Bulletin, 2025
Effects of Resmetirom on Resistance to Thyroid Hormone Receptor Mutants: Potential Basis for Therapeutic Applications.
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
R243W Mutation in Thyroid Hormone Resistance Syndrome Beta: A Case Report.
Ong JC et al.
Journal of the Asean Federation of Endocrine Societies, 2024
Changes in brain structure in subjects with resistance to thyroid hormone due to THRB mutations.
Rogge B et al.
Thyroid Research, 2023
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
Clinical outcomes of 34 patients with resistance to thyroid hormone beta: a twenty-year experience in Japan.
Ohba K et al.
Endocrine Journal, 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
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
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
Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta.
Chaves C 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
Resistance to Thyroid Hormone Beta: A Focused Review.
Pappa T et al.
Frontiers in Endocrinology, 2021
Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene.
Pajek M et al.
Medicina (kaunas, Lithuania), 2020
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
Structural insights revealed by two novel THRB mutations.
Cardoso LF et al.
Endocrine, 2020
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
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?
Moran C et al.
Journal of the Endocrine Society, 2017
BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review.
Xing W et al.
Oncology Letters, 2017
Retinal Photoreceptor Functions Are Compromised in Patients With Resistance to Thyroid Hormone Syndrome (RTHβ).
Campi I et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
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
Conservative management of pregnancy in patients with resistance to thyroid hormone associated with Hashimoto's thyroiditis.
Jonas C et al.
Thyroid : Official Journal of the American Thyroid Association, 2014
Analysis of the roles of mutations in thyroid hormone receptor-β by a bacterial biosensor system.
Shi C et al.
Journal of Molecular Endocrinology, 2014
Differentiated thyroid cancer in patients with resistance to thyroid hormone syndrome. A novel case and a review of the literature.
Vinagre J et al.
Frontiers in Molecular Biosciences, 2014
A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves' disease: a case report.
Yatsuga S et al.
Journal of Medical Case Reports, 2012
Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.
Ferrara AM et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
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 is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia.
Mitchell CS et al.
The Journal of Clinical Investigation, 2010
Case report: thyroid hormone resistance and its therapeutic challenges.
Kim TJ et al.
Current Opinion in Pediatrics, 2008
A case of thyroid hormone resistance: Prospective follow-up during pregnancy and obstetric outcome.
Massaad D et al.
European Journal of Internal Medicine, 2007
Characterization of a novel thyroid hormone receptor alpha variant involved in the regulation of myoblast differentiation.
Casas F et al.
Molecular Endocrinology (baltimore, Md.), 2006
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
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
Molecular basis of resistance to thyroid hormone.
Yen PM
Trends in Endocrinology and Metabolism: Tem, 2003
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 assessment of pituitary resistance to thyroid hormone from plots of the logarithm of thyrotropin versus serum free thyroxine index.
Ercan-Fang S et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone.
Pohlenz J et al.
Thyroid : Official Journal of the American Thyroid Association, 1999
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
Defective release of corepressor by hinge mutants of the thyroid hormone receptor found in patients with resistance to thyroid hormone.
Safer JD et al.
The Journal of Biological Chemistry, 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
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
Detection of a new de novo mutation at codon 251 of exon 8 of thyroid hormone receptor beta gene in an Italian kindred with resistance to thyroid hormone.
Macchia E et al.
Journal of Endocrinological Investigation, 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