|
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A dominant negative interaction is known to occur between thyroid hormone receptors (TRs) and the non-ligand binding splicing variant c-erbA alpha 2 as well as mutant TR beta 1 from kindreds with resistance to thyroid hormone.
|
7796935 |
1995 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Competitive polymerase chain reaction quantitation of c-erbA beta 1, c-erbA alpha 1, and c-erbA alpha 2 messenger ribonucleic acid levels in normal, heterozygous, and homozygous fibroblasts of kindred S with thyroid hormone resistance.
|
8408473 |
1993 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
Biomarker
|
disease |
BEFREE |
To investigate the biological functions of the c-erbA genes, c-erbA alpha and c-erbA beta, we tested the hypothesis that an abnormal c-erbA gene product is present in GTHR by examining these genes in members of one kindred.
|
2905763 |
1988 |
|
Constipation
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Late tooth eruption
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Osteochondrodysplasias
|
0.320 |
GeneticVariation
|
group |
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 |
|
Skeletal dysplasia
|
0.320 |
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 |
|
Osteochondrodysplasias
|
0.320 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
|
27144938 |
2016 |
|
Skeletal dysplasia
|
0.320 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
|
27144938 |
2016 |
|
Osteochondrodysplasias
|
0.320 |
GeneticVariation
|
group |
BEFREE |
Thyroid hormone receptor α mutation causes a severe and thyroxine-resistant skeletal dysplasia in female mice.
|
24914936 |
2014 |
|
Skeletal dysplasia
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Thyroid hormone receptor α mutation causes a severe and thyroxine-resistant skeletal dysplasia in female mice.
|
24914936 |
2014 |
|
Macrocephaly
|
0.310 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
|
27144938 |
2016 |
|
Macrocephaly
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Using whole exome sequencing and subsequent Sanger sequencing, we identified truncating and missense mutations in the THRA gene in five of six individuals and describe a distinct and consistent phenotype of mild hypothyroidism (growth retardation, relatively high birth length and weight, mild-to-moderate mental retardation, mild skeletal dysplasia and constipation), specific facial features (round, somewhat coarse and flat face) and macrocephaly.
|
25670821 |
2015 |
|
Anemia, Macrocytic
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
|
27144938 |
2016 |
|
Growth retardation
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
|
27144938 |
2016 |
|
Neurodevelopmental delay
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
|
27144938 |
2016 |
|
Endometriosis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Nuclear receptor, coregulator signaling, and chromatin remodeling pathways suggest involvement of the epigenome in the steroid hormone response of endometrium and abnormalities in endometriosis.
|
22138541 |
2012 |
|
Endometrioma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Nuclear receptor, coregulator signaling, and chromatin remodeling pathways suggest involvement of the epigenome in the steroid hormone response of endometrium and abnormalities in endometriosis.
|
22138541 |
2012 |
|
Diaphragmatic Hernia
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Altered gene level expression of thyroid hormone receptors alpha-1 and beta-1 in the lung of nitrofen-induced diaphragmatic hernia.
|
11685700 |
2001 |
|
Thyroid Hormone Resistance Syndrome
|
0.230 |
GeneticVariation
|
disease |
BEFREE |
A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance.
|
30747412 |
2019 |
|
Thyroid Hormone Resistance Syndrome
|
0.230 |
Biomarker
|
disease |
MGD |
CRISPR/Cas9 Editing of the Mouse Thra Gene Produces Models with Variable Resistance to Thyroid Hormone.
|
29205102 |
2018 |
|
Thyroid Hormone Resistance Syndrome
|
0.230 |
GeneticVariation
|
disease |
BEFREE |
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
|
25670821 |
2015 |
|
Thyroid Hormone Resistance Syndrome
|
0.230 |
AlteredExpression
|
disease |
BEFREE |
Competitive polymerase chain reaction quantitation of c-erbA beta 1, c-erbA alpha 1, and c-erbA alpha 2 messenger ribonucleic acid levels in normal, heterozygous, and homozygous fibroblasts of kindred S with thyroid hormone resistance.
|
8408473 |
1993 |
|
Hypothyroidism
|
0.200 |
Biomarker
|
disease |
BEFREE |
Similar to that found in hypothyroidism or TRα deficiency during the juvenile period, the B-cell population is reduced in the spleen and bone marrow of ageing TRα1/TRβ-knockout mice, suggesting that TRβ does not play a major role in B-cell development.
|
31585438 |
2020 |
|
Hypothyroidism
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Thyroid hormone receptor alpha (THRA) gene mutation is a thyroid hormone resistance syndrome characterized by near-normal thyroid function tests and tissue-specific hypothyroidism.
|
30747412 |
2019 |