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
Changes in brain structure in subjects with resistance to thyroid hormone due to THRB mutations.
Rogge B et al.
Thyroid Research, 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
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 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
Recognition of fold- and function-specific sites in the ligand-binding domain of the thyroid hormone receptor-like family.
Verma S et al.
Frontiers in Endocrinology, 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
Clinical Consequences of Variable Results in the Measurement of Free Thyroid Hormones: Unusual Presentation of a Family with a Novel Variant in the THRB Gene Causing Resistance to Thyroid Hormone Syndrome.
Campi I et al.
European Thyroid Journal, 2021
An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders.
Tagami T
Endocrine Journal, 2021
Resistance to Thyroid Hormone Beta: A Focused Review.
Pappa T et al.
Frontiers in Endocrinology, 2021
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
A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance.
Korwutthikulrangsri M et al.
European Thyroid Journal, 2019
Thyroid hormone resistance from newborns to adults: a Spanish experience.
Vela A et al.
Journal of Endocrinological Investigation, 2019
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
Thyroid Hormone Hyposensitivity: From Genotype to Phenotype and Back.
Rurale G et al.
Frontiers in Endocrinology, 2019
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
Naturally Occurring Amino Acids in Helix 10 of the Thyroid Hormone Receptor Mediate Isoform-Specific TH Gene Regulation.
Pinto VMS et al.
Endocrinology, 2017
BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review.
Xing W et al.
Oncology Letters, 2017
A resistance to thyroid hormone syndrome mutant operates through the target gene repertoire of the wild-type thyroid hormone receptor.
Jimenez R et al.
Molecular and Cellular Endocrinology, 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
Thyroid hormone receptors and resistance to thyroid hormone disorders.
Ortiga-Carvalho TM et al.
Nature Reviews. Endocrinology, 2014
Thyroid profiles in a patient with resistance to thyroid hormone and episodes of thyrotoxicosis, including repeated painless thyroiditis.
Taniyama M et al.
Thyroid : Official Journal of the American Thyroid Association, 2013
[Clinical and molecular study of five families with resistance to thyroid hormones].
Lado Abeal J et al.
Medicina Clinica, 2011
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
A mechanism for pituitary-resistance to thyroid hormone (PRTH) syndrome: a loss in cooperative coactivator contacts by thyroid hormone receptor (TR)beta2.
Lee S et al.
Molecular Endocrinology (baltimore, Md.), 2011
Differentiated thyroid cancer in two patients with resistance to thyroid hormone.
Paragliola RM et al.
Thyroid : Official Journal of the American Thyroid Association, 2011
Thyroid hormone receptor mutations in cancer and resistance to thyroid hormone: perspective and prognosis.
Rosen MD et al.
Journal of Thyroid Research, 2011
A Case of Resistance to Thyroid Hormone with Chronic Thyroiditis: Discovery of a Novel Mutation (I54V).
Kammoun I et al.
Case Reports in Endocrinology, 2011
Somatotropin adenoma and resistance to thyroid hormone.
Berker D et al.
Journal of Endocrinological Investigation, 2009
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 newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.
Kim JH et al.
Journal of Korean Medical Science, 2007
Thyroid hormone resistance: the role of mutational analysis.
Florkowski CM et al.
Internal Medicine Journal, 2006
Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T).
Wu SY et al.
The Journal of Laboratory and Clinical Medicine, 2005
Pituitary resistance to thyroid hormone syndrome is associated with T3 receptor mutants that selectively impair beta2 isoform function.
Wan W et al.
Molecular Endocrinology (baltimore, Md.), 2005
Resistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta gene.
Kong AP et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2005
Molecular basis of resistance to thyroid hormone.
Yen PM
Trends in Endocrinology and Metabolism: Tem, 2003
Leucine at codon 428 in the ninth heptad of thyroid hormone receptor beta1 is necessary for interactions with the transcriptional cofactors and functions regardless of dimer formations.
Monden T et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
A novel thyroid hormone receptor-beta mutation, not anticipated to occur in resistance to thyroid hormone, causes variable phenotypes.
Catargi B et al.
Hormone Research, 2002
Toxic multinodular goitre in a patient with generalized resistance to thyroid hormone who harbours the R429Q mutation in the thyroid hormone receptor beta gene.
Taniyama M et al.
Clinical Endocrinology, 2001
The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone.
Safer JD et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
A novel TR beta mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation.
Clifton-Bligh RJ et al.
Molecular Endocrinology (baltimore, Md.), 1998
Isoform variable action among thyroid hormone receptor mutants provides insight into pituitary resistance to thyroid hormone.
Safer JD et al.
Molecular Endocrinology (baltimore, Md.), 1997
A novel C-terminal domain in the thyroid hormone receptor selectively mediates thyroid hormone inhibition.
Flynn TR et al.
The Journal of Biological Chemistry, 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
Interaction of thyroid hormone and hemoglobin. I. Nature of the interaction and effect of hemoglobin on thyroid hormone radioimmunoassay.
Davis PJ et al.
The Journal of Laboratory and Clinical Medicine, 1980