TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 GeneticVariation disease BEFREE Gain-of-function mutations in the TSH receptor and the Galpha(S) subunit occur frequently in hyperfunctioning thyroid nodules and differentiated thyroid carcinomas, whereby the T allele of a common polymorphism (825C>T, rs5443) in the G protein beta3 subunit gene (GNB3) is associated with increased G protein-mediated signal transduction and a complex phenotype. 19772422 2009
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 GeneticVariation disease BEFREE Mutations L677V and T620I identified in hot thyroid carcinomas were previously characterized in CHO and in 3T3-Vill cell lines, respectively, stably expressing the mutant without determination of TSHR expression. 20846293 2010
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 GeneticVariation disease BEFREE The aim of the present study was to investigate the presence TSHR gene mutations in a series of thyroid specimens obtained from 22 consecutive patients with differentiated thyroid carcinomas (8 follicular and 14 papillary). 10342361 1999
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 GeneticVariation disease BEFREE The promoter region of TSHR gene was found to be methylated in 25 % (15 of 60) of the thyroid cancer patients. 24927793 2014
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 GeneticVariation disease UNIPROT
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 GeneticVariation disease BEFREE No evidence of thyrotropin receptor and G(s alpha) gene mutation in high iodine uptake thyroid carcinoma. 11041453 2000
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 GeneticVariation disease BEFREE In this paper we report the results of a screen for structural defects in exon 10 of the TSH-R (which includes the whole serpentine structure, but not the extracellular domain) and of Gs alpha in 30 thyroid carcinomas. 8923835 1996
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 GeneticVariation disease BEFREE As such, this article addresses the following aspects of intragenic mutations in thyroid cancer: thyroid stimulating hormone receptor and guanine-nucleotide-binding proteins of the stimulatory family mutations in hyperfunctioning tumors; mutations in RAS and other genes and aneuploidy; PAX8-PPARgamma rearrangements; BRAF mutations; mutations in oxidative phosphorylation and Krebs cycle genes in Hürthle cell tumors; mutations in succinate dehydrogenase genes in medullary carcinoma and C-cell hyperplasia; and mutations in TP53 and other genes in poorly differentiated and anaplastic carcinomas. 18502330 2008
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease CTD_human Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. 8413627 1993
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE As disturbed thyrotropin receptor signaling plays a central role in hot thyroid nodules, the identification of effective low-molecular-weight thyrotropin receptor ligands, such as thyrotropin receptor agonists, inverse agonists and antagonists has a pharmacologic potential in the diagnosis and treatment of thyroid cancer, Graves' disease and hot thyroid nodules, respectively. 17940470 2007
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE In addition, there was no correlation between NIS and TSHR in thyroid cancer, which may explain why, even after TSH stimulation, 10-20% of these malignant tumors are unable to concentrate enough radioiodine for effective therapy. 21989446 2012
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE Activating mutations of the TSH receptor in differentiated thyroid carcinomas. 7478621 1995
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE Methylation of thyroid-specific genes, such as those for sodium/iodide symporter and thyroid-stimulating hormone receptor, is also common in thyroid cancer. 16946009 2007
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE In order to further evaluate the role of TSH in the proliferation and the differentiation of human thyroid carcinoma cells, we have analyzed the function of the TSH receptor in the established thyroid carcinoma cell lines NPA and WRO. 1333981 1992
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE Lastly, future investigation of epigenetic events occurring at the TSHR and other loci may give better clues for molecular based therapy of undifferentiated thyroid carcinomas. 17891229 2007
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE Thyroid-stimulating hormone receptor messenger ribonucleic acid measurement in blood as a marker for circulating thyroid cancer cells and its role in the preoperative diagnosis of thyroid cancer. 17118994 2007
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE The present study indicates the normal patterns of DNA and RNA hybridization in a variety of thyroid tissues and disease states, and demonstrates that pathologic thyroid samples, with the possible exception of thyroid cancer, were not associated with specific nucleotide abnormalities in the unique area of the TSH receptor that was studied. 1420806 1992
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE Recently, the value of thyroid-stimulating hormone receptor(TSHR) mRNA as a molecular marker in diagnosis of thyroid cancer has been greatly explored. 20429628 2010
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE Our meta-analysis suggests that TSHR-mRNA might be a potential biomarker to complete present diagnostic methods for early and precision diagnosis of thyroid cancer. 28036261 2017
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE We, therefore, isolated neomycin-resistant stable human thyroid carcinoma cell (WRO cell) transfectants overexpressing intact human TSH receptor to evaluate the functional role of TSH receptor on carcinoma cells. 8381075 1993
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE Here, we present an example of the construction of silicon dioxide nanoparticles with thyroid-stimulating-hormone receptor-targeting ligand that can specifically target the thyroid cancer. 28860762 2017
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease CTD_human Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma. 9062474 1997
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE In addition, the prognostic value of TSHR in thyroid cancer was analyzed. 29344196 2017
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE We transfected human thyroid carcinoma cells lacking an endogenous TSH receptor with the human TSH receptor cDNA. 8385451 1993
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.600 Biomarker disease BEFREE These studies evaluating the etiological roles of these factors in linking breast and thyroid cancer might also improve our understanding and identify new therapeutic approaches, such as sodium/iodide symporter-mediated radioiodine therapy and thyroid-stimulating hormone receptor antagonists, for breast cancer. 29976206 2018