Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.R338L
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THRB

NM_001354712.2:p.R338L

Associated Papers

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

Mitsutani M et al.

Biological & Pharmaceutical Bulletin, 2025

Structural Insights Into Thyroid Hormone Receptors.

Tambones I et al.

Endocrinology, 2024

Bezafibrate induces hypothyroidism in a patient with resistance to thyroid hormone β due to a G347R variant.

Yamauchi I et al.

Clinical Endocrinology, 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

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

SNP mutations occurring in thyroid hormone receptor influenced individual susceptibility to triiodothyronine: Molecular dynamics and site-directed mutagenesis approaches.

Liu Y et al.

Journal of Cellular Biochemistry, 2018

Naturally Occurring Amino Acids in Helix 10 of the Thyroid Hormone Receptor Mediate Isoform-Specific TH Gene Regulation.

Pinto VMS et al.

Endocrinology, 2017

Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature.

Guo QH et al.

Medicine, 2016

Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.

Bassett JH et al.

Endocrine Reviews, 2016

Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.

Larsen CC et al.

Thyroid : Official Journal of the American Thyroid Association, 2013

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

Thyroid hormone receptor mutations in cancer and resistance to thyroid hormone: perspective and prognosis.

Rosen MD et al.

Journal of Thyroid Research, 2011

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

The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone.

Safer JD et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

Association between an R338L mutation in the thyroid hormone receptor-beta gene and thyrotoxic features in two unrelated kindreds with resistance to thyroid hormone.

Menzaghi C et al.

Thyroid : Official Journal of the American Thyroid Association, 1999

Isoform variable action among thyroid hormone receptor mutants provides insight into pituitary resistance to thyroid hormone.

Safer JD et al.

Molecular Endocrinology (baltimore, Md.), 1997

Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.

Adams M et al.

The Journal of Clinical Investigation, 1994

The variable clinical phenotype in thyroid hormone resistance syndrome.

Beck-Peccoz P et al.

Thyroid : Official Journal of the American Thyroid Association, 1994

[Resistance to thyroid hormone and Hashimoto's thyroiditis].

Guerra-Argüero LM et al.

Cirugia Y Cirujanos, 0

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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."