Bone Diseases, Developmental
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Dominant-negative mutations of TRα cause resistance to thyroid hormone alpha (RTHα; OMIM 614450), characterized by excessive repression of T3 target genes leading to delayed skeletal development, growth retardation, and bone dysplasia.
|
30760120 |
2019 |
Diabetes
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
RT-PCR analysis showed marked upregulation of miR-208a from early stages of diabetes in type 2 diabetic mouse heart, which was associated with a marked increase in the expression of pro-hypertrophic β-MHC and downregulation of TR-α.
|
30696455 |
2019 |
Diabetes Mellitus
|
0.010 |
AlteredExpression
|
group |
BEFREE |
RT-PCR analysis showed marked upregulation of miR-208a from early stages of diabetes in type 2 diabetic mouse heart, which was associated with a marked increase in the expression of pro-hypertrophic β-MHC and downregulation of TR-α.
|
30696455 |
2019 |
Neuroblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
A human neuroblastoma (SK-N-AS) cell line was used to test the involvement of the thyroid hormone receptor alpha 1 (TRα1) as well as the activator protein-1 (AP-1) and NF-κB inflammatory pathways in the inflammation-induced decrease of D3.
|
31303139 |
2019 |
Central neuroblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
A human neuroblastoma (SK-N-AS) cell line was used to test the involvement of the thyroid hormone receptor alpha 1 (TRα1) as well as the activator protein-1 (AP-1) and NF-κB inflammatory pathways in the inflammation-induced decrease of D3.
|
31303139 |
2019 |
Childhood Neuroblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
A human neuroblastoma (SK-N-AS) cell line was used to test the involvement of the thyroid hormone receptor alpha 1 (TRα1) as well as the activator protein-1 (AP-1) and NF-κB inflammatory pathways in the inflammation-induced decrease of D3.
|
31303139 |
2019 |
Neoplasm, Residual
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
A MRD significantly increased energy expenditure (e.g. fatty acid oxidation, glycolysis, and tricarboxylic acid cycle metabolism), regulated protein homeostasis, improved gut microbiota functions, prevented thyroid dysfunction, increased plasma thyroxine and triiodothyronine levels, decreased plasma thyroid stimulating hormone levels, increased type 2 deiodinase (DIO2) activity, and up-regulated mRNA and protein expression levels of DIO2 and thyroid hormone receptor α1 in the skeletal muscle.
|
29978874 |
2018 |
Hyperthyroidism
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Regarding the modulation of gene expression in the testis, hypothyroidism increased the expression of Thra1 and decreased the expression of Dio3, and hyperthyroidism increased the expression of Slc16a2.
|
27066791 |
2017 |
Meniere Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In contrast, the caloric responses were usually decreased in the affected ear (7 of 11, 64%, including one with bilateral MD).
|
27311766 |
2017 |
Nephritis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our findings indicate that ligand-bound TRα on macrophages plays a protective role in kidney inflammation through the inhibition of NF-κB pathways, possibly by affecting the pro- and anti-inflammatory balance that controls the development of CKD.
|
28272516 |
2017 |
Thyroid Diseases
|
0.010 |
AlteredExpression
|
group |
BEFREE |
We studied thyroid hormone receptor alpha (TRa) expression in 82 samples from 41 women with ductal invasive breast cancer and no thyroid disease.
|
28583788 |
2017 |
Global developmental delay
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous THRA mutations occurring de novo were identified in a 17-year-old male (patient P1; c.788C>T, p.A263V mutation) investigated for mild pubertal delay and in a 15-year-old male (patient P2; c.821T>C, p.L274P mutation) with short stature (0.4th centile), skeletal dysplasia, dysmorphic facies, and global developmental delay.
|
28471274 |
2017 |
Invasive Ductal Breast Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We studied thyroid hormone receptor alpha (TRa) expression in 82 samples from 41 women with ductal invasive breast cancer and no thyroid disease.
|
28583788 |
2017 |
Chronic Kidney Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Our findings indicate that ligand-bound TRα on macrophages plays a protective role in kidney inflammation through the inhibition of NF-κB pathways, possibly by affecting the pro- and anti-inflammatory balance that controls the development of CKD.
|
28272516 |
2017 |
Heart failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
On this basis, specific issues of special interest for cardiology are discussed, namely (1) relevance of the regulation of proteins involved in the control of calcium homeostasis and in pacemaker cell activity, due to non-genomic as well as to classical genomic effects; (2) stimulation of fatty acid oxidation by T2 and T1AM, the latter also causing a negative inotropic and chronotropic action at micromolar concentrations; (3) induction of D3 deiodinase in heart failure, potentially causing selective cardiac hypothyroidism, whose clinical implications are still controversial; and (4) cardioprotective effect of T1AM, possibly occurring at physiological concentrations, and relevance of T3 and of thyroid hormone receptor α1 in post-infarction repair.
|
27115768 |
2016 |
Congestive heart failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
On this basis, specific issues of special interest for cardiology are discussed, namely (1) relevance of the regulation of proteins involved in the control of calcium homeostasis and in pacemaker cell activity, due to non-genomic as well as to classical genomic effects; (2) stimulation of fatty acid oxidation by T2 and T1AM, the latter also causing a negative inotropic and chronotropic action at micromolar concentrations; (3) induction of D3 deiodinase in heart failure, potentially causing selective cardiac hypothyroidism, whose clinical implications are still controversial; and (4) cardioprotective effect of T1AM, possibly occurring at physiological concentrations, and relevance of T3 and of thyroid hormone receptor α1 in post-infarction repair.
|
27115768 |
2016 |
Memory impairment
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Hypothyroidism due to THRA1 (gene coding for thyroid hormone receptor α1) mutation-mediated Resistance to Thyroid Hormone (RTH) has been recently reported in human and is associated with memory deficits similar to those found in a mouse model for Thra1 mutation mediated RTH (Thra1(+/m) mice).
|
26743578 |
2016 |
Abnormality of the skeletal system
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that Thra1(PV/+) mice could be used to predict the skeletal outcome of human THRA mutations and determine whether prolonged treatment with a supraphysiological dose of T4 ameliorates the skeletal abnormalities.
|
24914936 |
2014 |
Obesity
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
THRA gene polymorphisms are associated with obesity development.
|
23399772 |
2013 |
Alzheimer's Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The relationship between the genetic variability of the THRA gene and AD risk remains uncertain but cannot be entirely excluded.
|
19427062 |
2011 |
Coronary Arteriosclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Association between a thyroid hormone receptor-α gene polymorphism and blood pressure but not with coronary heart disease risk.
|
21654857 |
2011 |
Coronary heart disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the associations between five THRA polymorphisms and (i) BP level in two population-based studies (MONICA Lille n = 1,155; MONICA Toulouse n = 1,170) and (ii) the risk of CHD in two case-control studies (Lille CHD n = 558 cases/568 controls; PRIME n = 527 cases/584 controls).
|
21654857 |
2011 |
Hypertensive disease
|
0.010 |
GeneticVariation
|
group |
BEFREE |
For the first time, our study showed associations between the THRA rs939348 polymorphism and systolic BP and the risk of hypertension but not with CHD, although we admit that the statistical power available to study any relationship with CHD was very limited.
|
21654857 |
2011 |
Degenerative polyarthritis
|
0.010 |
Biomarker
|
disease |
BEFREE |
In total 17 genetic variants within the genes encoding WD40-repeat/SOCS-box protein 1, ubiquitin specific protease 33, thyroid hormone receptor α, deiodinase, iodothyronine, type III (DIO3) and Indian hedgehog were measured and associated with osteoarthritis in a meta-analyses in European populations from the UK, The Netherlands, Greece and Spain containing a total of 3252 osteoarthritis cases and 2132 controls.
|
20724312 |
2011 |
Coronary Artery Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Association between a thyroid hormone receptor-α gene polymorphism and blood pressure but not with coronary heart disease risk.
|
21654857 |
2011 |