Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
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
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
[Thyroid hormone resistance may course hypotonia in infancy].
Pivkovska J et al.
Ugeskrift for Laeger, 2014
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
Coexistence of THRB and TBG gene mutations in a Turkish family.
Ferrara AM et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.
Bayraktaroglu T et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 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
Thyroid hormone receptor mutations and disease: insights from knock-in mouse models.
Cheng SY
Expert Review of Endocrinology & Metabolism, 2007
In vitro effect of Triac on resistance to thyroid hormone receptor mutants: potential basis for therapy.
Messier N et al.
Molecular and Cellular Endocrinology, 2001
Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes.
Reutrakul S et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
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
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
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
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
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
Thyroid hormone receptor mutants that cause resistance to thyroid hormone. Evidence for receptor competition for DNA sequences in target genes.
Nagaya T et al.
The Journal of Biological Chemistry, 1992
Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance.
Cheng SY
Trends in Endocrinology and Metabolism: Tem, 0