Abdomen distended
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
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 |
Acute Erythroblastic Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
v-ErbA is a mutated variant of thyroid hormone receptor (TRalpha/NR1A1) borne by the Avian Erythroblastosis virus causing erythroleukemia.
|
11314012 |
2001 |
Acute Promyelocytic Leukemia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Genetic and physical maps constructed for the APL breakpoint region on chromosome 17 have indicated that two fully-linked DNA markers, defining loci for THRA1 and D17S80, map to opposite sides of an APL breakpoint yet reside on a common 350-kb Clal fragment.
|
2278973 |
1990 |
Acute Promyelocytic Leukemia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
In human acute promyelocytic leukemia (APL) and avian erythroleukemia (AEL), chromosomal translocations and/or mutations in nuclear hormone receptors, RARalpha [NR1B1] and TRalpha [NR1A1], yielded oncoproteins that deregulate transcription and alter chromatin structure.
|
11420726 |
2001 |
Acute Promyelocytic Leukemia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Previous work has shown that c-erbA1 is proximal to the translocation breakpoint on chromosome 17 in the t(15;17)(q22;q12-21) in acute promyelocytic leukaemia.
|
3865620 |
1985 |
Acute Promyelocytic Leukemia
|
0.040 |
Biomarker
|
disease |
BEFREE |
The gene cluster including ErbA1 is known to be flanked by the constitutional 15;17 translocation breakpoint in hybrid SP3 and by the acute promyelocytic leukemia (APL) breakpoint, which provides the following gene and breakpoint order: cen-SP3-(D17S33,CRYB1)-NF1-(CSF3,ERBA1, ERBB2)-APL-tel.
|
2491776 |
1989 |
Adenoma
|
0.010 |
PosttranslationalModification
|
group |
LHGDN |
Lack of mutations in the thyroid hormone receptor (TR) alpha and beta genes but frequent hypermethylation of the TRbeta gene in differentiated thyroid tumors.
|
17911173 |
2007 |
Adult Erythroleukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
v-ErbA is a mutated variant of thyroid hormone receptor (TRalpha/NR1A1) borne by the Avian Erythroblastosis virus causing erythroleukemia.
|
11314012 |
2001 |
Alcoholic Intoxication, Chronic
|
0.010 |
Biomarker
|
disease |
BEFREE |
To investigate this possibility, regions of likely functional significance (all coding exons and flanking splice junctions) of the ERalpha and TRalpha genes were scanned in patients with schizophrenia (113), along with pilot studies in patients with bipolar illness (BPI), puerperal psychosis, autism, attention-deficit hyperactivity disorder (ADHD), and alcoholism.
|
11378852 |
2001 |
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 |
Anemia
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Anemia
|
0.110 |
Biomarker
|
disease |
BEFREE |
Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis.
|
28911146 |
2017 |
Anemia, Macrocytic
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
|
27144938 |
2016 |
Attention deficit hyperactivity disorder
|
0.010 |
Biomarker
|
disease |
BEFREE |
To investigate this possibility, regions of likely functional significance (all coding exons and flanking splice junctions) of the ERalpha and TRalpha genes were scanned in patients with schizophrenia (113), along with pilot studies in patients with bipolar illness (BPI), puerperal psychosis, autism, attention-deficit hyperactivity disorder (ADHD), and alcoholism.
|
11378852 |
2001 |
Autistic Disorder
|
0.010 |
Biomarker
|
disease |
BEFREE |
To investigate this possibility, regions of likely functional significance (all coding exons and flanking splice junctions) of the ERalpha and TRalpha genes were scanned in patients with schizophrenia (113), along with pilot studies in patients with bipolar illness (BPI), puerperal psychosis, autism, attention-deficit hyperactivity disorder (ADHD), and alcoholism.
|
11378852 |
2001 |
Benign neoplasm of breast
|
0.010 |
Biomarker
|
disease |
BEFREE |
For BRCA1 (D17S855, THRA1, D17S579) losses could be detected in invasive ductal carcinoma (IDC; n = 108) in 32-38%, invasive lobular carcinoma (ILC; n = 19) in 21-42% depending on the marker applied, but not in benign breast tumours (n = 15).
|
8630282 |
1996 |
Bipolar Disorder
|
0.010 |
Biomarker
|
disease |
BEFREE |
To investigate this possibility, regions of likely functional significance (all coding exons and flanking splice junctions) of the ERalpha and TRalpha genes were scanned in patients with schizophrenia (113), along with pilot studies in patients with bipolar illness (BPI), puerperal psychosis, autism, attention-deficit hyperactivity disorder (ADHD), and alcoholism.
|
11378852 |
2001 |
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
|
30108127 |
2018 |
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 |
Breast Carcinoma
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
These markers included polymorphisms within the thyroid hormone receptor alpha1 gene (THRA1), the breast cancer gene (BRCA1), GPIIb, GPIIIa, and an anonymous marker D17S579.
|
9695977 |
1998 |
Breast Carcinoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
Thus, we conclude that dronedarone's cytotoxic effect in breast cancer cell lines are independent of THRα or THRα1 antagonism.
|
30410118 |
2018 |
Breast Carcinoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
Expression of thyroid hormone receptor/erbA genes is altered in human breast cancer.
|
12082618 |
2002 |
Breast Carcinoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
Southern analysis revealed a rearrangement of THRA1 in the BT474 breast cancer cell line.
|
7511052 |
1994 |
Breast Carcinoma
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
Presence of two members of c-erbA receptor gene family (c-erbA beta and c-erbA2) in smallest region of somatic homozygosity on chromosome 3p21-p25 in human breast carcinoma.
|
2573734 |
1989 |