|
Hyperthyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report two different mutations in the TSHR gene of affected members of two large pedigrees with non-autoimmune autosomal dominant hyperthyroidism (toxic thyroid hyperplasia), that involve residues in the third (Val509Ala) and seventh (Cys672Tyr) transmembrane segments.
|
7920658 |
1994 |
|
Hyperthyroidism
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We report here that TSH and the pathogenic anti-TSHR antibodies that drive hyperthyroidism in GD induce IL-6 expression in fibrocytes and orbital fibroblasts.
|
24086448 |
2013 |
|
Hyperthyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a patient with hyperthyroidism due to a FTC bearing an activating TSHR mutation and PAX8-PPARgamma rearrangements.
|
20427420 |
2010 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
We describe here a Japanese kindred with two affected individuals who showed overt hyperthyroidism and mild goiter in the absence of TSHR antibodies.
|
18025759 |
2007 |
|
Hyperthyroidism
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
We describe here a Japanese kindred with two affected individuals who showed overt hyperthyroidism and mild goiter in the absence of TSHR antibodies.
|
18025759 |
2007 |
|
Hyperthyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe a family with a new TSHR germline mutation that is associated with euthyroidism in 13 family members and hyperthyroidism in 1 family member.
|
18466076 |
2008 |
|
Hyperthyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Very recently, activating thyrotropin (TSH) receptor germline mutations were detected in a few patients with sporadic nonautoimmune congenital hyperthyroidism, as well as in familial forms of nonautoimmune hyperthyroidism defining a new pathophysiological entity of hyperthyroidism.
|
9349581 |
1997 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
TSI activities in sera from hyperthyroid mice measured with some chimeric TSH/lutropin receptors suggested that their epitope(s) on TSHR appeared similar to those in patients with Graves' disease.
|
11884447 |
2002 |
|
Hyperthyroidism
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Tolerance was broken in low-transgenics, although TSHR antibody levels were lower than in wild-type littermates and no mice became hyperthyroid.
|
17823263 |
2007 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
To test the possibility that hyperthyroid cats develop antibodies that stimulate the autologous receptor, transfected cells expressing the feline TSHR were treated with sera or purified IgG obtained from 16 hyperthyroid cats.
|
11796491 |
2002 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thyrotropin (TSH) receptor antibodies (TRAb) mediate the hyperthyroidism of Graves' disease (GD).
|
28737965 |
2017 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thyroid-infiltrating activated T cells may lead to cell-mediated immunity, thyroid injury and eventually hypothyroidism, whereas humoral immunity via TSHR-stimulating antibodies may give rise to hyperthyroidism.
|
25231450 |
2014 |
|
Hyperthyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, the main conclusions to be drawn from this case are 1) a search for mutations in cases of congenital nonautoimmune hyperthyroidism should not remain restricted to exon 10 of the TSHR gene, because germ-line gain of function mutations of the TSH receptor can be located outside of the transmembrane core of the receptor; and 2) this case illustrates the necessity for careful functional characterization of any novel mutation before a causal relationship to hyperthyroidism can be established.
|
9589634 |
1998 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
This study showed that Taiwanese patients with the C/C genotype of E33SNP, smoking, ophthalmopathy, and positive TSH-receptor antibodies at the end of the treatment were more likely to have a relapse of Graves' hyperthyroidism after antithyroid medication is withdrawn.
|
17550957 |
2007 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
This study explores the first-in-human use of antigen-specific immunotherapy with a combination of two thyrotropin receptor (TSHR) peptides (termed ATX-GD-59) in Graves' hyperthyroidism.
|
31194638 |
2019 |
|
Hyperthyroidism
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
This germline mutation in a highly conserved region of the thyrotropin receptor resulted in a constitutive activation of the cyclic adenosine monophosphate-generating cascade with resulting hyperthyroidism.
|
9427897 |
1997 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results confirmed that immunization with naturally expressed hTSHR in mammalian cells was able to induce functional TSHR autoantibodies that either stimulated or blocked the mouse thyroid gland and induced hyperthyroidism or thyroid failure.
|
10067867 |
1999 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
These models provide unique insight into several aspects of Graves' disease: 1) manipulating immunity toward Th1 or Th2 cytokines enhances or suppresses hyperthyroidism in different models, perhaps reflecting human disease heterogeneity; 2) the role of TSHR cleavage and A subunit shedding in immunity leading to thyroid-stimulating antibodies (TSAbs); and 3) epitope spreading away from TSAbs and toward TSH-blocking antibodies in association with increased TSHR antibody titers (as in rare hypothyroid patients).
|
15827111 |
2005 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
These mice showed severe hyperthyroidism in a manner very similar to that described above for mice immunized with the mouse TSHR or human TSHR, and exhibited significant weight loss, with average weight for treatment groups ranging from 20.6 to 21.67 g, while controls weighed 24.2 g. Early after onset of the disease, histopathological examination of thyroids showed enlargement of colloids and thinning of epithelial cells without inflammation.
|
10528222 |
1999 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
There exists a consensus that hyperthyroid Graves' disease is caused by thyrotropin receptor (TSH-R) autoantibodies.
|
1656957 |
1991 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
The Relation Between Epicardial Fat Tissue Thickness and TSH Receptor Antibody in Hyperthyroidism.
|
30107622 |
2019 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
The present report identifies an important immunogenic region of the TSH receptor and determinants on the TSH receptor for the two types of autoantibodies seen in hyperthyroid Graves' disease and hypothyroid idiopathic myxedema, TSAbs and TSBAbs, respectively.
|
1283175 |
1992 |
|
Hyperthyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The members of the first family affected by hyperthyroidism, i.e. the mother and her two children, showed a germline mutation, a transition of GCC to GTC in the genomic DNA of the TSH receptor, leading to an exchange of alanine by valine at the position 623.
|
8981019 |
1996 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
The human thyrotropin receptor (hTSHR) represents an autoantigen that plays a central role in the hyperthyroidism of Graves' disease (GD). hTSHR transcripts have recently been detected by reverse transcription (RT)-PCR in various extrathyroidal tissues, suggesting that the hTSHR may be more widely distributed than previously thought, and that it may serve as a common antigen in the thyroidal and extrathyroidal manifestations of GD.
|
9225723 |
1997 |
|
Hyperthyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
The human TSH receptor represents the primary target of thyroid-stimulating immunoglobulins responsible for the hyperthyroidism of Graves' disease.
|
7535671 |
1995 |