Associated Papers
Resmetirom Is an Effective Thyromimetics for the Chemical Rescue of Thyroid Hormone Receptor Mutants.
Mitsutani M et al.
Biological & Pharmaceutical Bulletin, 2025
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
Pappa T et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
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
E449X mutation in the thyroid hormone receptor beta associated with autoimmune thyroid disease and severe neuropsychomotor involvement.
Gurgel MH et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome.
Ferreira Azevedo M et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
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
A novel mutation (M310L) in the thyroid hormone receptor beta causing resistance to thyroid hormone in a Brazilian kindred and a neonate.
Furlanetto TW et al.
Molecular Genetics and Metabolism, 2000
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