Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Seventeen patients presented mutations in TRβ (RTHβ); six were non-TR-RTH, three had a diagnosis of FDH with a mutation in ALB, and four were diagnosed with TPA.
|
30027432 |
2018 |
Generalized Thyroid Hormone Resistance
|
0.100 |
Biomarker
|
disease |
BEFREE |
In particular, the application of 3,3',5-triiodothyroacetic acid (Triac) in RTH due to defective TRβ and the role of 3,5-diiodothyropropionic acid (DITPA), 3,3',5,5'-tetraiodothyroacetic acid (Tetrac) and Triac in MCT8 deficiency will be highlighted.
|
28235578 |
2017 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we hypothesized that additional pathogenic mutations in TRβ are likely to exist in human population and analysed clinical cases with suspected RTH.
|
28557707 |
2017 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A new TRβ mutation in resistance to thyroid hormone syndrome.
|
28222413 |
2016 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TRβ gene mutation is not always correlated with the RTH phenotype.
|
25502991 |
2015 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients diagnosed as RTH with TRβ mutations were enrolled in a single institute between 2004 and 2014.
|
26041374 |
2015 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mice with a knock-in mutation in the TRβ gene spontaneously develop TSHomas, although as yet no patient has been reported to have both a TSHoma and RTHβ.
|
25867808 |
2015 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to describe the clinical, biochemical, and genetic features of a sample of Mediterranean patients with RTH (resistance to thyroid hormone) due to mutations in TRβ (thyroid hormone receptor beta) referred to our institution during the last 15 years.
|
24722129 |
2014 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mice with mutations in the thyroid hormone receptor beta (TRβ) gene that cannot bind steroid receptor coactivator 1 (SRC-1) and Src-1(-/-) mice both have phenotypes similar to that of RTH.
|
24550004 |
2014 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A 44-year-old Japanese woman with RTH, which was confirmed by the presence of a P453A mutation in the thyroid hormone receptor β (TRβ) gene, showed a slight elevation of the basal levels of thyroid hormones, which indicated that her pituitary RTH was mild.
|
23240983 |
2013 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report here an illustrative case of a 29 year-old patient with RTH caused by a mutation in exon 9 (A317T) of TRβ gene, who presented multicentric papillary thyroid cancer.
|
22460197 |
2012 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Defects in TRβ lead to RTH (resistance to thyroid hormone) β, a syndrome characterized by high levels of thyroid hormone and non-suppressed TSH (thyroid-stimulating hormone).
|
22220593 |
2012 |
Generalized Thyroid Hormone Resistance
|
0.100 |
Biomarker
|
disease |
BEFREE |
The role of the TRβ was studied in cells from patients with resistance to thyroid hormone (RTH).
|
20827662 |
2011 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Taken together, these data suggest that the aberrant recruitment of NCOR1 by RTH TRβ mutants leads to clinical RTH in humans.
|
21987803 |
2011 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
She was determined to harbor a missense mutation of M310T in exon 9 of the TR beta gene, and diagnosed with generalized RTH.
|
20808683 |
2010 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Unlike the TR beta gene, a mutation in the TR alpha1 gene has never been found in patients with resistance to thyroid hormone (RTH).
|
9685218 |
1998 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Resistance to thyroid hormone (RTH) is an inherited defect manifesting as variable tissue hyporesponsiveness to thyroid hormone, usually caused by mutations in the thyroid hormone receptor beta (TR beta) gene.
|
9086568 |
1997 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of the TR beta gene from a patient with the syndrome of resistance to thyroid hormone revealed a novel missense mutation in exon 9, changing thymidine in position 1123 to cytosine.
|
9086569 |
1997 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To date, all individuals expressing the RTH phenotype have been found to harbor mutations in the thyroid hormone receptor beta (TR beta) gene that impair T3-mediated function.
|
8954015 |
1996 |
Generalized Thyroid Hormone Resistance
|
0.100 |
Biomarker
|
disease |
BEFREE |
Since similar mutations have been identified in tri-iodothyronine (T3) receptor (TR) beta gene in GRTH and PRTH, and since considerable overlap has been seen in the clinical manifestations in patients with GRTH and PRTH, two subtypes of RTH are now considered to be a continuous spectrum with the same genetic defect.
|
8958790 |
1996 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome characterized by hyposensitivity to thyroid hormone caused by mutations in the thyroid hormone receptor-beta (TR beta) gene.
|
8838149 |
1996 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Resistance to thyroid hormone (RTH), a syndrome characterized by variable tissue hyposensitivity to thyroid hormone, is linked to mutations in the thyroid hormone receptor-beta (TR beta) gene.
|
7593433 |
1995 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ligand-binding domain of the thyroid hormone receptor beta (TR beta) gene cause the syndrome of resistance to thyroid hormone (RTH).
|
8529109 |
1995 |
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Except for one family, point mutations so far described in RTH are clustered at exons 8-10 of the TR beta gene.
|
8563471 |
1995 |
Generalized Thyroid Hormone Resistance
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have identified 20 different mutations in the thyroid hormone beta-receptor (TR beta) gene in RTH and assayed mutant receptor properties using the TSH alpha subunit gene promoter or promoters containing three different types of positive thyroid response element (TRE).
|
7838159 |
1994 |