Associated Papers
Nuclear receptor corepressor 1 levels differentially impact the intracellular dynamics of mutant thyroid hormone receptors associated with resistance to thyroid hormone syndrome.
Simsek YK et al.
Molecular and Cellular Endocrinology, 2024
Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay.
Wilpert NM et al.
International Journal of Molecular Sciences, 2024
2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.
Persani L et al.
European Thyroid Journal, 2024
Histological, functional and transcriptomic alterations in the juvenile hippocampus in a mouse model of thyroid hormone resistance.
Fang Y et al.
European Thyroid Journal, 2022
Structure-Guided Approach to Relieving Transcriptional Repression in Resistance to Thyroid Hormone α.
Romartinez-Alonso B et al.
Molecular and Cellular Biology, 2022
Proteomic Analysis of the Intestinal Resistance to Thyroid Hormone Mouse Model With Thyroid Hormone Receptor Alpha Mutations.
Xi Y et al.
Frontiers in Endocrinology, 2022
Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.
Di Cicco E et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation.
Furman AE et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders.
Tagami T
Endocrine Journal, 2021
A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.
Paisdzior S et al.
International Journal of Molecular Sciences, 2021
Generation and Characterization of a New Resistance to Thyroid Hormone Mouse Model with Thyroid Hormone Receptor Alpha Gene Mutation.
Liang Y et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults
Erbaş İM et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
Role of thyroid hormones in craniofacial development.
Leitch VD et al.
Nature Reviews. Endocrinology, 2020
Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development.
Krieger TG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA /TRα1.
Sun H et al.
Journal of the Endocrine Society, 2019
Syndromes of Resistance to Thyroid Hormone Action.
Persani L et al.
Experientia Supplementum (2012), 2019
CRISPR/Cas9 Editing of the Mouse Thra Gene Produces Models with Variable Resistance to Thyroid Hormone.
Markossian S et al.
Thyroid : Official Journal of the American Thyroid Association, 2018
In vivo Functional Consequences of Human THRA Variants Expressed in the Zebrafish.
Marelli F et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
A clinician's guide to understanding resistance to thyroid hormone due to receptor mutations in the TRα and TRβ isoforms.
Singh BK et al.
Clinical Diabetes and Endocrinology, 2017
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
Demir K et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Resistance to Thyroid Hormone α-Emerging Definition of a Disorder of Thyroid Hormone Action.
Moran C et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
Patterns of thyroid hormone receptor expression in zebrafish and generation of a novel model of resistance to thyroid hormone action.
Marelli F et al.
Molecular and Cellular Endocrinology, 2016
TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.
Vlaeminck-Guillem V et al.
Presse Medicale (paris, France : 1983), 2015
A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.
Espiard S et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Resistance to thyroid hormone due to defective thyroid receptor alpha.
Moran C et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2015
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance.
Isojima T et al.
Bone Reports, 2015
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
Tylki-Szymańska A et al.
Journal of Medical Genetics, 2015
Thyroid hormone receptors and resistance to thyroid hormone disorders.
Ortiga-Carvalho TM et al.
Nature Reviews. Endocrinology, 2014
Thyroid hormone receptor α mutation causes a severe and thyroxine-resistant skeletal dysplasia in female mice.
Bassett JH et al.
Endocrinology, 2014
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
Moran C et al.
The Lancet. Diabetes & Endocrinology, 2014
A histone deacetylase inhibitor improves hypothyroidism caused by a TRα1 mutant.
Kim DW et al.
Human Molecular Genetics, 2014
Clinical Consequences of Mutations in Thyroid Hormone Receptor-α1.
van Mullem AA et al.
European Thyroid Journal, 2014
Different causes of reduced sensitivity to thyroid hormone: diagnosis and clinical management.
Visser WE et al.
Clinical Endocrinology, 2013
Mechanisms of action of thyroid hormones in the skeleton.
Wojcicka A et al.
Biochimica Et Biophysica Acta, 2013
The syndromes of reduced sensitivity to thyroid hormone.
Dumitrescu AM et al.
Biochimica Et Biophysica Acta, 2013
RTHα, a newly recognized phenotype of the resistance to thyroid hormone (RTH) syndrome in patients with THRA gene mutations.
Zavacki AM et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
A mutation in the thyroid hormone receptor alpha gene.
Bochukova E et al.
The New England Journal of Medicine, 2012
[Pendred's syndrome. Current features].
Wémeau JL et al.
Presse Medicale (paris, France : 1983), 2001