Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.I431T
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THRB

NM_001354712.2:p.I431T

Associated Papers

Resmetirom Is an Effective Thyromimetics for the Chemical Rescue of Thyroid Hormone Receptor Mutants.

Mitsutani M et al.

Biological & Pharmaceutical Bulletin, 2025

Resistance to Thyroid Hormone Beta and Coexisting Thyroid Disease: Diagnostic and Therapeutic Challenges Illustrated by Two Cases.

Ribeiro S et al.

Case Reports in Endocrinology, 2025

Clinical Consequences of Variable Results in the Measurement of Free Thyroid Hormones: Unusual Presentation of a Family with a Novel Variant in the THRB Gene Causing Resistance to Thyroid Hormone Syndrome.

Campi I et al.

European Thyroid Journal, 2021

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

Thyroid hormone receptors and cancer.

Kim WG et al.

Biochimica Et Biophysica Acta, 2013

A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome.

Ferreira Azevedo M et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2008

Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T).

Wu SY et al.

The Journal of Laboratory and Clinical Medicine, 2005

In vitro effect of Triac on resistance to thyroid hormone receptor mutants: potential basis for therapy.

Messier N et al.

Molecular and Cellular Endocrinology, 2001

Isoform variable action among thyroid hormone receptor mutants provides insight into pituitary resistance to thyroid hormone.

Safer JD et al.

Molecular Endocrinology (baltimore, Md.), 1997

Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.

Adams M et al.

The Journal of Clinical Investigation, 1994

Interaction of thyroid hormone and hemoglobin. I. Nature of the interaction and effect of hemoglobin on thyroid hormone radioimmunoassay.

Davis PJ et al.

The Journal of Laboratory and Clinical Medicine, 1980

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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."