Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.L428R
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THRB

NM_001354712.2:p.L428R

Associated Papers

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

Mitsutani M et al.

Biological & Pharmaceutical Bulletin, 2025

The rat thyroid hormone receptor (TR) Deltabeta3 displays cell-, TR isoform-, and thyroid hormone response element-specific actions.

Harvey CB et al.

Endocrinology, 2007

Leucine at codon 428 in the ninth heptad of thyroid hormone receptor beta1 is necessary for interactions with the transcriptional cofactors and functions regardless of dimer formations.

Monden T et al.

Thyroid : Official Journal of the American Thyroid Association, 2003

Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes.

Reutrakul S et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

Molecular basis of resistance to thyroid hormone (RTH).

Nagaya T et al.

Endocrine Journal, 1998

[Thyroid hormone receptors and the disorders].

Nagaya T et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 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."