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Article

Germline Polymorphism of Codon 727 of Human Thyroid-Stimulating Hormone Receptor Is Associated with Toxic Multinodular Goiter<sup>1</sup>

1 Sept 1999

Abstract excerpt

Toxic multinodular goiter (TMNG) represents a frequent cause of endogenous hyperthyroidism, affecting 5-15% of such patients (with higher frequencies reported in iodine-deficient areas of the world). Although mutations of human TSH receptor (hTSHR) have been described in autonomously functioning thyroid nodules (AFTN), the role of such mutations in the pathogenesis of TMNG remains unclear. To search for...

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PMID: 10487707
DOI: 10.1210/jcem.84.9.5966

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Germline Polymorphism of Codon 727 of Human Thyroid-Stimulating Hormone Receptor Is Associated with Toxic Multinodular Goiter<sup>1</sup>PMID 10487707Read ↗

Germline Polymorphism of Codon 727 of Human Thyroid-Stimulating Hormone Receptor Is Associated with Toxic Multinodular GoiterSemantic proximity Read ↗

Lack of Association of Nonautoimmune Hyperfunctioning Thyroid Disorders and a Germline Polymorphism of Codon 727 of the Human Thyrotropin Receptor in a European Caucasian Population<sup>1</sup>Semantic proximity Read ↗

Identification of constitutively activating somatic thyrotropin receptor mutations in a subset of toxic multinodular goiters.Semantic proximity Read ↗

Detection of thyroid-stimulating hormone receptor and Gsalpha mutations: in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis.Semantic proximity Read ↗

A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism.Semantic proximity Read ↗

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Identification of a New Thyrotropin Receptor Germline Mutation (Leu629Phe) in a Family with Neonatal Onset of Autosomal Dominant Nonautoimmune HyperthyroidismSemantic proximity Read ↗

Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism.Semantic proximity Read ↗

Is the TSHR D727E polymorphism a genetic predisposition for multinodular goiter in the Turkish population?Semantic proximity Read ↗

A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.Semantic proximity Read ↗

Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas.Semantic proximity Read ↗

Somatic mutations in the thyrotropin receptor gene and not in the Gs alpha protein gene in 31 toxic thyroid nodules.Semantic proximity Read ↗

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