Associated Papers
TRα1 mutant suppresses KLF9 to cause endometrial metaplasia with ectopic IL-33 expression leading to uterine fibrosis and infertility.
Edmondson E et al.
Scientific Reports, 2025
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
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
Comparative Phenotyping of Mice Reveals Canonical and Noncanonical Physiological Functions of TRα and TRβ.
Hönes GS et al.
Endocrinology, 2024
Resistance to thyroid hormone induced tachycardia in RTHα syndrome.
Dore R et al.
Nature Communications, 2023
Thyroid hormones regulate Zfp423 expression in regionally distinct adipose depots through direct and cell-autonomous action.
Roth L et al.
Cell Reports, 2023
Single-cell RNA-based phenotyping reveals a pivotal role of thyroid hormone receptor alpha for hypothalamic development.
Sreenivasan VKA et al.
Development (cambridge, England), 2023
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
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
New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA /TRα1.
Sun H et al.
Journal of the Endocrine Society, 2019
CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.
Deneault E et al.
Elife, 2019
Syndromes of Resistance to Thyroid Hormone Action.
Persani L et al.
Experientia Supplementum (2012), 2019
Maternal thyroid hormone is required for parvalbumin neurone development in the anterior hypothalamic area.
Harder L et al.
Journal of Neuroendocrinology, 2018
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
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
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
Hippocampal Transcriptome Profile of Persistent Memory Rescue in a Mouse Model of THRA1 Mutation-Mediated Resistance to Thyroid Hormone.
Wang Y et al.
Scientific Reports, 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
Whole-genome sequencing of quartet families with autism spectrum disorder.
Yuen RK et al.
Nature Medicine, 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
THRA and DIO2 mutations are unlikely to be a common cause of increased bone mineral density in euthyroid post-menopausal women.
Gogakos A et al.
European Journal of Endocrinology, 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
Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.
van Mullem AA et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Mice lacking the p43 mitochondrial T3 receptor become glucose intolerant and insulin resistant during aging.
Bertrand C et al.
Plos One, 2013
Severe impairment of cerebellum development in mice expressing a dominant-negative mutation inactivating thyroid hormone receptor alpha1 isoform.
Fauquier T et al.
Developmental Biology, 2011
NCoR1 regulates thyroid hormone receptor isoform-dependent adipogenesis.
Zhu XG et al.
Journal of Molecular Endocrinology, 2011
Increased depressive behaviour in mice harboring the mutant thyroid hormone receptor alpha 1.
Pilhatsch M et al.
Behavioural Brain Research, 2010
New insights into regulation of lipid metabolism by thyroid hormone.
Zhu X et al.
Current Opinion in Endocrinology, Diabetes, and Obesity, 2010
Molecular aspects of thyroid hormone actions.
Cheng SY et al.
Endocrine Reviews, 2010
Physiological consequences of the TRalpha1 aporeceptor state.
Mittag J et al.
Heart Failure Reviews, 2010
Hypermetabolism in mice caused by the central action of an unliganded thyroid hormone receptor alpha1.
Sjögren M et al.
The Embo Journal, 2007
A mutant thyroid hormone receptor alpha antagonizes peroxisome proliferator-activated receptor alpha signaling in vivo and impairs fatty acid oxidation.
Liu YY et al.
Endocrinology, 2007
Retardation of post-natal development caused by a negatively acting thyroid hormone receptor alpha1.
Tinnikov A et al.
The Embo Journal, 2002
[Pendred's syndrome. Current features].
Wémeau JL et al.
Presse Medicale (paris, France : 1983), 2001