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thyroid nodule/prolina
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4 resultados
Serum-plasma matched metabolomics for comprehensive characterization of benign thyroid nodule and papillary thyroid carcinoma.
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Metabolomics offers a noninvasive methodology to identify metabolic markers for pathogenesis and diagnosis of diseases. This work aimed to characterize circulating metabolic signatures of benign thyroid nodule (BTN) and papillary thyroid carcinoma (PTC) via serum-plasma matched metabolomics. A
The detection of somatic mutations of thyrotropin receptor gene in fine needle biopsy samples from thyroid nodules.
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OBJECTIVE
To evaluate the detection possibility of TSH receptor gene mutation within the third cytoplasmic loop and the sixth transmembrane domain in the cytological material obtained by means of fine needle biopsy of autonomous and non-autonomous nodules.
METHODS
The study has been carried out in
A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family.
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Activating mutations of the TSH receptor (TSH-R) have been reported to result in toxic adenomas, multinodular goiters, sporadic neonatal hyperthyroidism, and familial autosomal dominant nonautoimmune hyperthyroidism. To date, all descriptions of such mutations, whether somatic or genomic, have been
Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene.
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Germline mutations of thyrotropin receptor (TSHR) gene determining a constitutive activation of the receptor were identified as a molecular cause of familial or sporadic congenital nonautoimmune hyperthyroidism (OMIM: 609152) (Nat Genet 7:396-401, 1994; N Engl J Med 332:150-154, 1995; Acta
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