|
Broad-based gait
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Carcinogenesis
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
MED12 mutations are associated with altered expressions of the genes involved in the WNT (PAX3, WNT3A, AXIN2), TGFB (TAGLN, TGFBR2, CTGF) and THRA (RXRA, THRA) signaling pathways.In conclusion, this study confirmed that MED12 plays a central oncogenic role in breast fibroepithelial tumorigenesis and identified a limited number of altered signaling pathways that maybe associated with MED12 mutations.
|
27806318 |
2016 |
|
Carcinogenesis
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
Subsequent real-time PCR assays confirmed 16 of these targets, and 9 of these genes (ARHGAP29, CDC25A, CDKN2AIP, CX3CL1, ELF4, GNAL, KDELR1, POU4F2, and THRA) have a known role in tumorigenesis.
|
19457610 |
2009 |
|
Carcinogenesis
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
Functional domains of the v-erbA protein necessary for oncogenesis are required for transcriptional activation in Saccharomyces cerevisiae.
|
8099219 |
1993 |
|
Carcinoma, Ovarian Epithelial
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Resolving the remaining recombination events in these families by new polymorphisms in the THRA1-D17S183 interval will facilitate positional cloning of the breast-ovarian cancer gene on chromosome 17q12-q21.
|
8460637 |
1993 |
|
Carcinoma, Small Cell
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A substantial but smaller proportion of non-small-cell carcinomas had lost heterozygosity at ERBA beta.
|
2536219 |
1989 |
|
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 |
|
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 |
|
Chronic Obstructive Airway Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.
|
30804561 |
2019 |
|
Cleft lip or lips
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
We detected significant interaction between maternal smoking and the transmission of alleles for markers near TGFA and TGFB3; excess transmission of allele 3 at BCL3 was most significant among cleft lip probands; and the odds ratios for transmission of alleles at D19S178 and THRA1 were significant when ethnic group was included in the model.
|
9415696 |
1997 |
|
Cleft upper lip
|
0.010 |
Biomarker
|
disease |
BEFREE |
We detected significant interaction between maternal smoking and the transmission of alleles for markers near TGFA and TGFB3; excess transmission of allele 3 at BCL3 was most significant among cleft lip probands; and the odds ratios for transmission of alleles at D19S178 and THRA1 were significant when ethnic group was included in the model.
|
9415696 |
1997 |
|
Coarse facial features
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Congenital Dysplasia Of The Hip
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congenital exomphalos
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congenital Hypothyroidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congenital omphalocele
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
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 |
|
Constipation
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
|
27144938 |
2016 |
|
Constipation
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
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 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 |
|
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 |
|
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 |
|
Delayed bone age
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|