Associated Papers
Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta
Büyükyılmaz G et al.
Journal of Clinical Research in Pediatric 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
Structural Insights Into Thyroid Hormone Receptors.
Tambones I et al.
Endocrinology, 2024
THRB Gene Mosaicism Confirmed by Next-Generation Sequencing in a Clinically Symptomatic Infant.
Cheng JYK et al.
Jcem Case Reports, 2024
Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone.
Hatano M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 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
Thyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report.
Feng J et al.
Medicine, 2023
Noncoding Mutations in a Thyroid Hormone Receptor Gene That Impair Cone Photoreceptor Function.
Liu H et al.
Endocrinology, 2023
Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.
Sun C et al.
Frontiers in Molecular Neuroscience, 2023
Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.
Fernández-Suárez E et al.
Frontiers in Cell and Developmental Biology, 2023
Retrospective analysis and literature review of four cases of thyroid hormone resistance syndrome caused by THRB gene mutation.
Zhang L et al.
Translational Pediatrics, 2022
Clinically Symptomatic Resistance to Thyroid Hormone β Syndrome Because of THRB Gene Mosaicism.
Donnars A et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
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
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
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
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
Thyroid hormone resistance from newborns to adults: a Spanish experience.
Vela A et al.
Journal of Endocrinological Investigation, 2019
Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease.
Jiménez-Panizo A et al.
Endocrine-related Cancer, 2019
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
Thyroid hormone resistance and the value of genetics: Three case reports.
Xiao X et al.
Medicine, 2019
Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones.
Arsov T et al.
Thyroid Research, 2019
Syndromes of Resistance to Thyroid Hormone Action.
Persani L et al.
Experientia Supplementum (2012), 2019
Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.
Ramos LS et al.
Endocrine, 2018
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
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
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
Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms.
Claussnitzer M et al.
Cell, 2014
Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.
Larsen CC et al.
Thyroid : Official Journal of the American Thyroid Association, 2013
Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRβ2 gene.
Weiss AH et al.
Ophthalmic Genetics, 2012
An intronic variant associated with systemic lupus erythematosus changes the binding affinity of Yinyang1 to downregulate WDFY4.
Zhao H et al.
Genes and Immunity, 2012
THRB genetic polymorphisms can predict severe myelotoxicity after definitive chemoradiotherapy in patients with esophageal squamous cell carcinoma.
Miki I et al.
International Journal of Medical Sciences, 2012
An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone.
Alberobello AT et al.
Journal of Translational Medicine, 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
The role of the amino-terminal domain in the interaction of unliganded peroxisome proliferator-activated receptor gamma-2 with nuclear receptor co-repressor.
Suzuki S et al.
Journal of Molecular 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
Thyroid hormone resistance: the role of mutational analysis.
Florkowski CM et al.
Internal Medicine Journal, 2006
Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
Mamanasiri S et al.
The Journal of Clinical Endocrinology and Metabolism, 2006