Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.F455S
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THRB

NM_001354712.2:p.F455S

Associated Papers

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

Pituitary NR4A1 is negatively regulated by thyroid hormone without direct binding of thyroid hormone receptors on the gene.

Okamura T et al.

Molecular and Cellular Endocrinology, 2018

Aberrant histone modifications at the thyrotropin-releasing hormone gene in resistance to thyroid hormone: analysis of F455S mutant thyroid hormone receptor.

Umezawa R et al.

Endocrinology, 2009

A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.

Lado-Abeal J et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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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."