Article
Lack of association between autonomously functioning thyroid nodules and germline polymorphisms of the thyrotropin receptor and Gαs genes in a mild to moderate iodine-deficient Caucasian population.
Journal of endocrinological investigation - 1 Jul 2014
Vicchio Teresa Manuela, Giovinazzo Salvatore, Certo Rosaria, Cucinotta Mariapaola, Micali Carmelo, Baldari Sergio, Benvenga Salvatore, Trimarchi Francesco, Campennì Alfredo, Ruggeri Rosaria Maddalena
Abstract excerpt
BACKGROUND: Mutations of the thyrotropin receptor (TSHR) and/or Gαs gene have been found in a number of, but not all, autonomously functioning thyroid nodules (AFTNs). Recently, in a 15-year-old girl with a hyperfunctioning papillary thyroid carcinoma, we found two somatic and germline single nucleotide polymorphisms (SNPs): a SNP of the TSHR gene (exon 7, codon 187) and a SNP of Gαs gene (exon 8, codon 185). The...
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