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
Structural Insights Into Thyroid Hormone Receptors.
Tambones I et al.
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
Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome.
Yalçın HY et al.
Molecular Syndromology, 2024
Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone Alpha.
Dahll LK et al.
Journal of the Endocrine Society, 2023
Resistance to thyroid hormone induced tachycardia in RTHα syndrome.
Dore R et al.
Nature Communications, 2023
Mediator subunit MED1 differentially modulates mutant thyroid hormone receptor intracellular dynamics in Resistance to Thyroid Hormone syndrome.
Wang M et al.
Molecular and Cellular Endocrinology, 2023
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
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Thyroid Hormone Receptor α Mutations Cause Heart Defects in Zebrafish.
Han CR et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
Role of thyroid hormones in craniofacial development.
Leitch VD et al.
Nature Reviews. Endocrinology, 2020
The In Vitro Functional Impairment of Thyroid Hormone Receptor Alpha 1 Isoform Mutants Is Mainly Dictated by Reduced Ligand Sensitivity.
Wejaphikul K et al.
Thyroid : Official Journal of the American Thyroid Association, 2019
A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance.
Korkmaz O et al.
Hormones (athens, Greece), 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
Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis.
van Gucht ALM et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins.
Moran C et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
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
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
Resistance to Thyroid Hormone Alpha in an 18-Month-Old Girl: Clinical, Therapeutic, and Molecular Characteristics.
van Gucht AL et al.
Thyroid : Official Journal of the American Thyroid Association, 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
Thyroid hormone receptors and resistance to thyroid hormone disorders.
Ortiga-Carvalho TM et al.
Nature Reviews. 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
[Pendred's syndrome. Current features].
Wémeau JL et al.
Presse Medicale (paris, France : 1983), 2001