Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.P398R
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THRA

NM_199334.5:p.P398R

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

39201272 (PubMed )
Supplement: ijms-25-08585-s001.zip › Table_S1.xlsx › Table_S1

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

38963712 (PubMed )
Supplement: supplementary_table_1.pdf

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

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

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

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

Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.

Bassett JH et al.

Endocrine Reviews, 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 resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

Tylki-Szymańska A et al.

Journal of Medical Genetics, 2015

[Pendred's syndrome. Current features].

Wémeau JL et al.

Presse Medicale (paris, France : 1983), 2001

Silencing subdomains of v-ErbA interact cooperatively with corepressors: involvement of helices 5/6.

Busch K et al.

Molecular Endocrinology (baltimore, Md.), 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."