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Abstract <p>The thyroid-stimulating hormone receptor (TSHR) is one of the main autoantigens of the thyroid gland (TG), along with thyroglobulin and thyroid peroxidase. It plays a key role in the metabolism of thyroid hormones and controls the thyrocyte growth and functions. Due to the heterogeneity of etiology and pathogenesis, there are many functional thyroid disorders caused by hyperthyroidism, hypothyroidism, or thyroid tumors. The present analytical review systematizes data since 1993 on mutations in the <i>TSHR</i> gene identified in the genome of patients with hyperthyroidism, hypothyroidism, or thyroid tumors, in different domains of the TSH receptor, which has a unique structure for the receptors of this family.</p>

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Mutations in the Thyrotropin Receptor Gene: Correlation between Genetically Altered Structural Elements of the Thyrotropin Receptor and Functional Disorders of the Thyroid Gland

  • 期刊论文

  • 发表日期：

    2025年7月1日

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  • A. V. Zubkov,
  • O. A. Svitich,
  • V. V. Fadeev,
  • L. G. Butova

摘要

Abstract

The thyroid-stimulating hormone receptor (TSHR) is one of the main autoantigens of the thyroid gland (TG), along with thyroglobulin and thyroid peroxidase. It plays a key role in the metabolism of thyroid hormones and controls the thyrocyte growth and functions. Due to the heterogeneity of etiology and pathogenesis, there are many functional thyroid disorders caused by hyperthyroidism, hypothyroidism, or thyroid tumors. The present analytical review systematizes data since 1993 on mutations in the TSHR gene identified in the genome of patients with hyperthyroidism, hypothyroidism, or thyroid tumors, in different domains of the TSH receptor, which has a unique structure for the receptors of this family.