Associated Papers
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
What is the Role of Thyroid Hormone Receptor Alpha 2 (TRα2) in Human Physiology?
Paisdzior S et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2022
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
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
Insight Into Molecular Determinants of T3 vs T4 Recognition From Mutations in Thyroid Hormone Receptor α and β.
Wejaphikul K et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Increased circulating interleukin-8 in patients with resistance to thyroid hormone receptor α.
van der Spek AH et al.
Endocrine Connections, 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
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