Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.R384H
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THRA

NM_199334.5:p.R384H

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

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

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

34069457 (PubMed )
Supplement: ijms-22-05338-s001.zip › ijms-1156618-supplementary.pdf

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

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

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

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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."