|
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Resistance to thyroid hormone (RTH) is an autosomal dominant disorder that is caused by mutations in the thyroid hormone receptor beta (TR beta) gene.
|
7711514 |
1994 |
|
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 |
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 |
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 |
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 |
A tight linkage between generalized resistance to thyroid hormone (GRTH) and the thyroid hormone receptor-beta (TR beta) gene is indicated.
|
1619012 |
1992 |
|
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 |
All subjects fulfilling the criteria of RTH (6 of family F94 and one of family F27) had the same point mutation in the T3-binding domain on one of the two alleles of the TR beta gene.
|
7833659 |
1994 |
|
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 |
Biomarker
|
disease |
BEFREE |
Generalized resistance to thyroid hormone (GRTH) is a disorder of thyroid hormone action which has been linked to the beta thyroid hormone receptor (TR beta) gene.
|
8187964 |
1994 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We present a new family with RTH (F120) found to have a mutation R316H in the thyroid hormone receptor beta (TR beta) gene identical for that reported in an unrelated family.
|
8200958 |
1994 |
|
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 |
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 |
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 |
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 |
TR beta gene mutations have been recently identified in 68 families with RTH.
|
7833674 |
1994 |
|
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 |
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 |
|
Neoplasms
|
0.090 |
Biomarker
|
group |
BEFREE |
With TRβ as a tumor suppressor and Runx2 as a tumor promoter, a compelling question is whether there is a functional relationship between these regulatory factors in thyroid tumorigenesis.
|
27253998 |
2016 |
|
Neoplasms
|
0.090 |
AlteredExpression
|
group |
BEFREE |
The thyroid hormone receptor TRβ increases NCoR expression and this induction is essential in mediating the anti-metastatic and tumor suppressive actions of the receptor.
|
27149915 |
2016 |
|
Neoplasms
|
0.090 |
AlteredExpression
|
group |
BEFREE |
Therefore, BRG1-mediated chromatin remodeling may be obligatory for TRβ transcriptional repression and tumor suppressor function in thyroid tumorigenesis.
|
29750276 |
2018 |
|
Neoplasms
|
0.090 |
Biomarker
|
group |
BEFREE |
The miRNAs reduced in TRα1/TRβ knockout mice are known to play crucial roles in epidermal proliferation, hair cycling, wound healing, stem-cell function, and tumor development, all processes altered in the absence of TRs.
|
29742977 |
2018 |
|
Neoplasms
|
0.090 |
AlteredExpression
|
group |
BEFREE |
Importantly, new vessel formation was significantly suppressed in tumors induced by FTC cells expressing TRβ compared with control FTC cells without TRβ.
|
23731250 |
2014 |
|
Neoplasms
|
0.090 |
Biomarker
|
group |
BEFREE |
These finding indicate that TRβ is a tumor suppressor and could be tested as a potential therapeutic target.
|
23183175 |
2013 |