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
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
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
An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders.
Tagami T
Endocrine Journal, 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
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
TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.
Vlaeminck-Guillem V et al.
Presse Medicale (paris, France : 1983), 2015
Thyroid hormone receptors and resistance to thyroid hormone disorders.
Ortiga-Carvalho TM et al.
Nature Reviews. Endocrinology, 2014
The syndromes of reduced sensitivity to thyroid hormone.
Dumitrescu AM et al.
Biochimica Et Biophysica Acta, 2013
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
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
Retardation of post-natal development caused by a negatively acting thyroid hormone receptor alpha1.
Tinnikov A et al.
The Embo Journal, 2002
[Pendred's syndrome. Current features].
Wémeau JL et al.
Presse Medicale (paris, France : 1983), 2001
Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors.
Yoh SM et al.
Molecular Endocrinology (baltimore, Md.), 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
Phenotype variability and different genotype of four patients with thyroid hormone resistance syndrome due to variants in the THRB gene.
Toumba M et al.
Hippokratia, 0