Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.A317T
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THRA

NM_199334.5:p.A317T

Associated Papers

Recognition of fold- and function-specific sites in the ligand-binding domain of the thyroid hormone receptor-like family.

Verma S et al.

Frontiers in 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

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

Tagami T

Endocrine Journal, 2021

Update on resistance to thyroid hormone syndromeβ.

Sun H et al.

Italian Journal of Pediatrics, 2020

Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.

Bassett JH et al.

Endocrine Reviews, 2016

Genetic determination of the hypothalamic-pituitary-thyroid axis: where do we stand?

Medici M et al.

Endocrine Reviews, 2015

Resistance to thyroid hormone due to mutations in the THRB gene impairs bone mass and affects calcium and phosphorus homeostasis.

Cardoso LF et al.

Bone, 2014

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

Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor.

Weiss RE et al.

The Journal of Clinical Endocrinology and Metabolism, 1996

Allele-specific associated polymorphism analysis: novel modification of SSCP for mutation detection in heterozygous alleles using the paradigm of resistance to thyroid hormone.

Grace MB et al.

Human Mutation, 1995

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."