Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.E449*
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THRB

NM_001354712.2:p.E449*

Associated Papers

Extreme resistance to thyroid hormone caused by a novel mosaic thyroid hormone receptor beta mutation.

van Geest FS et al.

European Thyroid Journal, 2025

41159509 (PubMed )
Supplement: supplementary_materials.pdf

Truncated variants of thyroid hormone receptor beta display disease-inflicting malfunctioning at cellular level.

Rehman G et al.

Experimental Cell Research, 2024

An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders.

Tagami T

Endocrine Journal, 2021

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Autoimmunity in patients with resistance to thyroid hormone.

Barkoff MS et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

E449X mutation in the thyroid hormone receptor beta associated with autoimmune thyroid disease and severe neuropsychomotor involvement.

Gurgel MH et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2008

Comparison of the functional properties of three different truncated thyroid hormone receptors identified in subjects with resistance to thyroid hormone.

Miyoshi Y et al.

Molecular and Cellular Endocrinology, 1998

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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."