Associated Papers
Resistance to Thyroid Hormone in a Boy with a Severe, Complex, Congenital Heart Defect (CHD) Requiring Multiple Cardiac Surgeries-Whether and How to Prepare Child for the Surgery.
Fedorczak A et al.
Journal of Clinical Medicine, 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
A Case of Thyroid Hormone Resistance Syndrome with a Novel Mutation (c.947G>a) in the THRB Gene: Experience in Diagnosis and Treatment.
Liu J et al.
International Medical Case Reports Journal, 2024
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
Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β.
Lauffer P et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
Resistance to Thyroid Hormone Beta: A Focused Review.
Pappa T et al.
Frontiers in Endocrinology, 2021
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
Thyroid Hormone Resistance in Identical Twin Sisters with Atrial Fibrillation: Case Report and Review of the Literature.
Zimering MB
Journal of Endocrinology and Diabetes, 2018
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
Resistance to thyroid hormone due to a novel thyroid hormone receptor mutant in a patient with hypothyroidism secondary to lingual thyroid and functional characterization of the mutant receptor.
Nakajima Y et al.
Thyroid : Official Journal of the American Thyroid Association, 2010
Design and synthesis of complementing ligands for mutant thyroid hormone receptor TRbeta(R320H): a tailor-made approach toward the treatment of resistance to thyroid hormone.
Hashimoto A et al.
Bioorganic & Medicinal Chemistry, 2005
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
Quantitative analysis of DNA binding affinity and dimerization properties of wild-type and mutant thyroid hormone receptor beta1.
Takeda T et al.
Thyroid : Official Journal of the American Thyroid Association, 2000
DNA binding affinity of hTRbeta1 mutants as heterodimers with traps from different tissues.
Takeda T et al.
Biochimie, 1999
The function of retinoid X receptors on negative thyroid hormone response elements.
Takeda T et al.
Molecular and Cellular Endocrinology, 1997
Structural features of thyroid hormone response elements that increase susceptibility to inhibition by an RTH mutant thyroid hormone receptor.
Zavacki AM et al.
Endocrinology, 1996
Recessive resistance to thyroid hormone in mice lacking thyroid hormone receptor beta: evidence for tissue-specific modulation of receptor function.
Forrest D et al.
The Embo Journal, 1996
Syndrome of resistance to thyroid hormone: insights into thyroid hormone action.
Kopp P et al.
Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (new York, N.y.), 1996
Thyroid hormone receptor-beta mutants associated with generalized resistance to thyroid hormone show defects in their ligand-sensitive repression function.
Piedrafita FJ et al.
Molecular Endocrinology (baltimore, Md.), 1995
Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health Prospective Study.
Brucker-Davis F et al.
Annals of Internal Medicine, 1995
Dominant negative and DNA-binding properties of mutant thyroid hormone receptors that are defective in homodimerization but not heterodimerization.
Kitajima K et al.
Thyroid : Official Journal of the American Thyroid Association, 1995
Association of attention-deficit disorder and the dopamine transporter gene.
Cook EH et al.
American Journal of Human Genetics, 1995
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
Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene.
Weiss RE et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Hyperactivity and learning deficits in transgenic mice bearing a human mutant thyroid hormone beta1 receptor gene.
McDonald MP et al.
Learning & Memory (cold Spring Harbor, N.y.), 0