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
Structural Insights Into Thyroid Hormone Receptors.
Tambones I et al.
Endocrinology, 2024
Approach to the Patient With Raised Thyroid Hormones and Nonsuppressed TSH.
Moran C et al.
The Journal of Clinical Endocrinology and Metabolism, 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
The clinical characteristics and gene mutations associated with thyroid hormone resistance syndrome coexisting with pituitary tumors.
Zhao J et al.
Frontiers in 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
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
Reduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance.
Heldmann M et al.
Endocrine Connections, 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
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
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
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
Demir K et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
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
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
Characteristics of patients with late manifestation of resistance thyroid hormone syndrome: a single-center experience.
Han R et al.
Endocrine, 2015
[Thyroid hormone resistance may course hypotonia in infancy].
Pivkovska J et al.
Ugeskrift for Laeger, 2014
Resistance to thyroid hormone due to mutations in the THRB gene impairs bone mass and affects calcium and phosphorus homeostasis.
Cardoso LF et al.
Bone, 2014
Thyroid hormone receptors and cancer.
Kim WG et al.
Biochimica Et Biophysica Acta, 2013
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
Somatotropin adenoma and resistance to thyroid hormone.
Berker D et al.
Journal of Endocrinological Investigation, 2009
Biochemical characterization of four novel mutations in the thyroid hormone receptor beta gene in patients with resistance to thyroid hormone.
Asadi AB et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2008
Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone.
Magalhães PK et al.
Clinical Endocrinology, 2007
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
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
Reversible pituitary enlargement in the syndrome of resistance to thyroid hormone.
Gurnell M et al.
Thyroid : Official Journal of the American Thyroid Association, 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
Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone beta-receptors in thyroid hormone resistance syndrome.
Collingwood TN et al.
Molecular Endocrinology (baltimore, Md.), 1994
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
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 mutations and disease: beyond thyroid hormone resistance.
Cheng SY
Trends in Endocrinology and Metabolism: Tem, 0
Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.
Rivolta CM et al.
Molecular and Cellular Probes, 0
Resistance to Thyroid Hormone Beta in a Patient Born to a Mother With Undiagnosed Graves' Disease.
Seetharaman S et al.
Aace Clinical Case Reports, 0