Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.E457A
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THRB

NM_001354712.2:p.E457A

Associated Papers

Transcriptional Cofactors for Thyroid Hormone Receptors.

Ritter MJ et al.

Endocrinology, 2025

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

Mitsutani M et al.

Biological & Pharmaceutical Bulletin, 2025

Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.

Fernández-Suárez E et al.

Frontiers in Cell and Developmental Biology, 2023

37547476 (PubMed )
Supplement: Table2.PDF

Obesity Due to Steroid Receptor Coactivator-1 Deficiency Is Associated With Endocrine and Metabolic Abnormalities.

Cacciottolo TM et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Thyroid hormone receptors and resistance to thyroid hormone disorders.

Ortiga-Carvalho TM et al.

Nature Reviews. Endocrinology, 2014

Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH).

Chiesa A et al.

Endocrine, 2012

Complete activation of thyroid hormone receptor β by T3 is essential for normal cochlear function and morphology in mice.

Richter CP et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011

In vivo interaction of steroid receptor coactivator (SRC)-1 and the activation function-2 domain of the thyroid hormone receptor (TR) beta in TRbeta E457A knock-in and SRC-1 knockout mice.

Alonso M et al.

Endocrinology, 2009

A thyroid hormone receptor mutation that dissociates thyroid hormone regulation of gene expression in vivo.

Machado DS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface.

Ortiga-Carvalho TM et al.

The Journal of Clinical Investigation, 2005

A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone.

Rivolta CM et al.

Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004

A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor beta gene causes resistance to thyroid hormone.

Rivolta CM et al.

Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004

A novel natural mutation in the thyroid hormone receptor defines a dual functional domain that exchanges nuclear receptor corepressors and coactivators.

Tagami T et al.

Molecular Endocrinology (baltimore, Md.), 1998

An inhibitory region of the DNA-binding domain of thyroid hormone receptor blocks hormone-dependent transactivation.

Liu Y et al.

Molecular Endocrinology (baltimore, Md.), 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."