|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the thyroid hormone receptor alpha gene.
|
22168587 |
2012 |
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
|
24969835 |
2014 |
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
|
25670821 |
2015 |
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.
|
26037512 |
2015 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Only recently have mutations in the thyroid hormone receptor α gene (THRA) been identified causing a new form of RTH, RTHα.
|
25231448 |
2014 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
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 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, the first patients with resistance to thyroid hormone alpha (RTHα) due to inactivating mutations in the thyroid hormone receptor alpha (TRα) were identified.
|
26782358 |
2016 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A severe phenotype characteristic of hypothyroidism occurs in children with resistance to thyroid hormone due to mutations affecting THRA encoding thyroid hormone receptor α (TRα).
|
28853052 |
2018 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Resistance to thyroid hormone due to THRA mutations (RTHα) is a recently discovered genetic disease, displaying important variability in its clinical presentation.
|
29205102 |
2018 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor.
|
8954015 |
1996 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.
|
26037512 |
2015 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in the thyroid hormone receptor alpha (THRA) gene cause resistance to thyroid hormone alpha (RTHα), a disease characterized by variable manifestations reminiscent of untreated congenital hypothyroidism but a raised triiodothyronine/thyroxine ratio and normal thyrotropin levels.
|
27809680 |
2017 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Indeed, the recent discovery of a number of human patients carrying heterozygous mutations in the THRA gene (RTHα) revealed a distinct phenotype that was not observed in RTH patients with THRB gene mutations (RTHβ).
|
30595106 |
2019 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins.
|
28471274 |
2017 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hippocampal Transcriptome Profile of Persistent Memory Rescue in a Mouse Model of THRA1 Mutation-Mediated Resistance to Thyroid Hormone.
|
26743578 |
2016 |
|
Generalized Thyroid Hormone Resistance
|
0.400 |
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 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Scope of this review: This review describes the clinical and biochemical characteristics of patients with resistance to thyroid hormone alpha (RTHα) due to heterozygous mutations in THRA.
|
28527577 |
2017 |
|
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 |
|
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 |
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 |
Thyroid hormone receptor α mutation causes a severe and thyroxine-resistant skeletal dysplasia in female mice.
|
24914936 |
2014 |
|
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 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
|
25670821 |
2015 |