Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.R320C
Back to variants list

THRB

NM_001354712.2:p.R320C

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

Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.

Mao X et al.

Medicine, 2024

39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2

Structural Insights Into Thyroid Hormone Receptors.

Tambones I et al.

Endocrinology, 2024

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

Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor β Gene Mutation.

Lai HP et al.

International Journal of Molecular Sciences, 2022

Clinical outcomes of 34 patients with resistance to thyroid hormone beta: a twenty-year experience in Japan.

Ohba K et al.

Endocrine Journal, 2022

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Huang X et al.

Orphanet Journal of Rare Diseases, 2022

35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign

Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma-two case reports of a thyroid hormone receptor beta gene mutation and a literature review.

Fang Y et al.

Frontiers in Genetics, 2022

Autoimmune thyroid disease and thyroid function test fluctuations in patients with resistance to thyroid hormone.

Okazaki-Hada M et al.

European Journal of Endocrinology, 2021

An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders.

Tagami T

Endocrine Journal, 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

Thyroid hormone resistance from newborns to adults: a Spanish experience.

Vela A et al.

Journal of Endocrinological Investigation, 2019

Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease.

Jiménez-Panizo A et al.

Endocrine-related Cancer, 2019

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.

Ramos LS et al.

Endocrine, 2018

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.

Kondelin J et al.

Embo Molecular Medicine, 2018

30108113 (PubMed )
Supplement: EMMM-10-e8552-s004.xlsx › Sheet1

The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone.

Kimura T et al.

Case Reports in Endocrinology, 2018

BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review.

Xing W et al.

Oncology Letters, 2017

Conservative management of pregnancy in patients with resistance to thyroid hormone associated with Hashimoto's thyroiditis.

Jonas C et al.

Thyroid : Official Journal of the American Thyroid Association, 2014

Differentiated thyroid cancer in patients with resistance to thyroid hormone syndrome. A novel case and a review of the literature.

Vinagre J et al.

Frontiers in Molecular Biosciences, 2014

[Clinical and molecular study of five families with resistance to thyroid hormones].

Lado Abeal J et al.

Medicina Clinica, 2011

A mechanism for pituitary-resistance to thyroid hormone (PRTH) syndrome: a loss in cooperative coactivator contacts by thyroid hormone receptor (TR)beta2.

Lee S et al.

Molecular Endocrinology (baltimore, Md.), 2011

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

Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.

Bayraktaroglu T et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2009

Design and synthesis of complementing ligands for mutant thyroid hormone receptor TRbeta(R320H): a tailor-made approach toward the treatment of resistance to thyroid hormone.

Hashimoto A et al.

Bioorganic & Medicinal Chemistry, 2005

Pituitary resistance to thyroid hormone syndrome is associated with T3 receptor mutants that selectively impair beta2 isoform function.

Wan W et al.

Molecular Endocrinology (baltimore, Md.), 2005

A subtype-selective thyromimetic designed to bind a mutant thyroid hormone receptor implicated in resistance to thyroid hormone.

Ye HF et al.

Journal of the American Chemical Society, 2001

Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C).

Weiss RE et al.

Thyroid : Official Journal of the American Thyroid Association, 1997

Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K.

Beck-Peccoz P et al.

Journal of Endocrinological Investigation, 1994

Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK.

Beck-Peccoz P et al.

European Journal of Endocrinology, 1994

Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11th 1993, Cambridge, U.K.

Beck-Peccoz P et al.

Thyroid : Official Journal of the American Thyroid Association, 1994

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."