Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.R383C
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THRB

NM_001354712.2:p.R383C

Associated Papers

Effects of Resmetirom on Resistance to Thyroid Hormone Receptor Mutants: Potential Basis for Therapeutic Applications.

Mitsutani M et al.

Biological & Pharmaceutical Bulletin, 2025

Changes in brain structure in subjects with resistance to thyroid hormone due to THRB mutations.

Rogge B et al.

Thyroid Research, 2023

Cardiovascular morbidity and mortality in patients in Wales, UK with resistance to thyroid hormone β (RTHβ): a linked-record cohort study.

Okosieme OE et al.

The Lancet. Diabetes & Endocrinology, 2023

Reduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance.

Heldmann M et al.

Endocrine Connections, 2022

Case of Resistance to Thyroid Hormones With a Relatively Rare Mutation in Thyroid Hormones Receptor.

Ahmed M et al.

Cureus, 2021

Dyslipidemia, Insulin Resistance, Ectopic Lipid Accumulation, and Vascular Function in Resistance to Thyroid Hormone β.

Moran C et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Patients with mutations of the Thyroid hormone beta-receptor show an ADHD-like phenotype for performance monitoring: an electrophysiological study.

Uter J et al.

Neuroimage. Clinical, 2020

A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance.

Korwutthikulrangsri M et al.

European Thyroid Journal, 2019

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review.

Anyfantakis A et al.

Case Reports in Endocrinology, 2016

One Novel and Two Recurrent THRB Mutations Associated with Resistance to Thyroid Hormone: Structure-based Computational Mutation Prediction.

Narumi S et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2010

Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia.

Mitchell CS et al.

The Journal of Clinical Investigation, 2010

Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone.

Hayashi Y et al.

The Journal of Clinical Investigation, 1994

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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."