Associated Papers
Novel Thyroid Hormone Receptor β Gene Variant (F245L) Causing Mild Resistance to Thyroid Hormone.
Yamagami K et al.
Jcem Case Reports, 2025
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
Structural Insights Into Thyroid Hormone Receptors.
Tambones I et al.
Endocrinology, 2024
Effect of the Fetal THRB Genotype on the Placenta.
Salas-Lucia F et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
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
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
Identification of Resistance to Exogenous Thyroxine in Humans.
Lacámara N et al.
Thyroid : Official Journal of the American Thyroid Association, 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
Physiologic Significance of Epigenetic Regulation of Thyroid Hormone Target Gene Expression.
Anselmo J et al.
European Thyroid Journal, 2020
Structural insights revealed by two novel THRB mutations.
Cardoso LF et al.
Endocrine, 2020
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
Resistance to thyroid hormone with a mutation of the thyroid β receptor gene in an eight-month-old infant - a case report.
Foryś-Dworniczak EA et al.
Endokrynologia Polska, 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
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
Pappa T et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice.
Srichomkwun P et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
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
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
Patterns of thyroid hormone receptor expression in zebrafish and generation of a novel model of resistance to thyroid hormone action.
Marelli F et al.
Molecular and Cellular Endocrinology, 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
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
Serum copper as a novel biomarker for resistance to thyroid hormone.
Mittag J et al.
The Biochemical Journal, 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
[Clinical and molecular study of five families with resistance to thyroid hormones].
Lado Abeal J et al.
Medicina Clinica, 2011
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
9 years follow-up of a patient with pituitary form of resistance to thyroid hormones (PRTH): comparison of two treatment periods of D-thyroxine and triiodothyroacetic acid (TRIAC).
Guran T et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
Case report: thyroid hormone resistance and its therapeutic challenges.
Kim TJ et al.
Current Opinion in Pediatrics, 2008
The rat thyroid hormone receptor (TR) Deltabeta3 displays cell-, TR isoform-, and thyroid hormone response element-specific actions.
Harvey CB et al.
Endocrinology, 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
Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine.
Anselmo J et al.
Thyroid : Official Journal of the American Thyroid Association, 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
Thyroid hormone receptor-beta mutations conferring hormone resistance and reduced corepressor release exhibit decreased stability in the N-terminal ligand-binding domain.
Huber BR et al.
Molecular Endocrinology (baltimore, Md.), 2003
Resistance to thyroid hormone does not abrogate the transient thyrotoxicosis associated with gestation: report of a case.
Anselmo J et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Physiological and molecular basis of thyroid hormone action.
Yen PM
Physiological Reviews, 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
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
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
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