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THRA gene mutations may not be associated with congenital hypothyroidism
Thyroid receptors (TRalpha and TRbeta) are major components of the thyroid hormone pathway which is linked to neuronal development.
overview of the clinical features together with the underlying molecular mechanisms in patients with resistance to thyroid hormone due to heterozygous mutations in TRalpha (Review).
We found that the thyroid hormone receptor (TRalpha 3) has a differential expression profile. Thyroid hormone is critical for normal brain development. Our results showed that there is a possible link between IGF1/IGF1R and the TRalpha 3 and that over expression of IGF1R in RTT cells may be the cause of neurites improvement in neural RTT-derived neurons.
This large case series underlines the variation in the clinical phenotype of RTHalpha patients.
THRA predominates in multipotent human adipose derived stem cells (hADSC) whereas THRB is expressed at lower levels and is upregulated during hADSC differentiation.
The expression of thyroid receptor alpha is linked to fertility status.
8 different THRA gene abnormalities have been described in 14 patients from 9 families with phenotypes including short stature, dysmorphic syndrome, psychoneuromotor disorders, constipation and bradycardia. Review.
The current study aimed to investigate whether TRs may be specifically expressed in BRCA1 associated cancer cases.
THRA mutations may be more common than expected. In patients with clinical symptoms of mild hypothyreosis without confirmation in endocrine studies, a molecular study of THRA defects is strongly recommended.
Thyroid hormone receptor (TRalpha1) is shown to occur and determine postischemic remodeling and cardiac recovery depending on the availability of TH. [review]
Data suggest thyroid hormone resistance syndrome can be exhibited by patients with heterozygous missense mutation (Ala263Val) in THRA1 and THRA2, isoforms resulting from alternative splicing. [CASE REPORT]
THRalpha rs939348 polymorphism was associated with L-T4 dose and central obesity among hypothyroid patients.
Thyroid hormone signalling may be important in a proportion of breast cancers and THRalpha2 expression may be a regulator of signalling in this pathway.
substantial reduction in the protein expression profile of THRs in malignant versus nonmalignant mammary epithelium suggesting a possible role in breast cancer development.
A new x-ray crystallographic structure of thyroid hormone receptor ligand-binding domains shows a second binding site for thyroid hormones.
Transactivation of reporter genes in response to T4 thyroid hormone was dependent on the thyroid hormone receptor subtypes in human cells.
Thyroid hormone receptor alpha mutation is associated with a severe and thyroxine-resistant skeletal dysplasia.
TRalpha1 and TRbeta1, preferentially partner with distinct panels of auxiliary proteins.
THRA gene polymorphisms are associated with obesity development. This is a novel observation linking the THRA locus to metabolic phenotypes.
the TR-KLF9 axis is responsible for the hematopoietic dysfunction in congenital hypothyroidism
there is considerable evidence that TRalpha plays an important role in fat deposition in porcine adipose tissue.
Furthermore, molecular and transgenic studies have shown that unliganded TRalpha accomplishes these via the recruitment of histone deacetylase (HDAC)-containing corepressor complexes to repress the expression of TH-inducible genes
regions of the Xenopus and mouse Klf9 genes 5-6 kb upstream of the transcription start sites that supported synergistic transactivation by TH plus GC.
Type 2 iodothyronine deiodinase activity is required for the death of thyroid hormone receptor (TRalpha)-transfected tail muscle cells induced by a low level of thyroid hormone.
Data provide in vivo evidence for targeted recruitment of N-CoR/SMRT-TBLR1 complexes by unliganded thyroid hormone receptors in transcriptional repression during vertebrate development.
Data show that thyroid hormone receptors directly mediate the developmental effects of thyroid hormone in individual organs by regulating target gene expression in these organs.
investigated the role of steroid receptor coactivator 3 (SRC3) in gene activation by thyroid hormone receptor (TR) in vivo during development
one mechanism for tissue- and gene-specific regulation of TR target gene expression is through tissue and developmental stage-dependent regulation of TR levels
Binding of liganded thyroid hormnone receptor to the target promoter is reduced when arginine methyltransferase 1 was overexpressed, accompanied by a slight reduction in histone methylation.
PRMT1 functions transiently as a coactivator in thyroid hormone (T3) receptor (TR)-mediated transcription by enhancing TR-T3 response element binding and further suggest that PRMT1 has tissue-specific roles in regulating the rate of metamorphosis.
T(3) acts to induce cell proliferation in the tadpole brain predominantly, if not exclusively, via TRalpha.
Data provide evidence that zebrafish represents a valid model to study in vivo the thyroid hormone (TH) action, and the molecular mechanisms underlying the two syndromes of TH resistance, RTHa and RTHb.
zebrafish uses both alternative splicing and differential expression of TRalpha genes to diversify the cellular response to thyroid hormones.
TRalpha seems to have an inhibitory impact on angiotensin (AGT) and AT1Ra expression, and loss of TRalpha function in TRalpha(0/0) mice increases tissue renin-angiotensin system expression in the aortic wall. More importantly, TRalpha deletion significantly increases vascular smooth muscle cells cholesterol content. Our results are consistent with a protective role of TRalpha against atherosclerosis.
thyroid hormone receptor alpha deletion in ApoE-/- mice slightly increases the expression of tissue renin-angiotensin system in the aorta and aggravates the dysregulation of cholesterol content in the vascular smooth muscle cells.
Knockdown of the main TR in macrophages, TRalpha, impaired polarization into proinflammatory macrophages and amplified polarization into immunomodulatory macrophages.
Data suggest that gestational/maternal endocrine disruptor DEHP [di-(2-ethylhexyl) phthalate] exposure dose-dependently causes fetal IUGR (intrauterine growth restriction); mRNA levels of placental Thra1 and Thrb1 are reduced and nuclear translocation of placental Thra1 and Thrb1 is suppressed in DEHP-exposed mice.
neonatal hypothyroidism alters localization and expression of THRalpha1.
Study demonstrated an anxiety-related phenotype in mice expressing a neuron-specific TRalpha mutation. This provides evidence that altered thyroid hormone signaling in the brain impacts adult behavior.
the Gata-1 gene was a T3-directly regulated gene and that TRa1PV could impair erythropoiesis via repression of the Gata-1 gene and its regulated genes. These results provide new insights into how TRa1 mutants acted to cause erythroid abnormalities in patients with mutations of the THRA gene.
Using domain exchanges and individual amino acid switches between THRA1 and THRB2, three amino acidswere identified in helix 10 of the THRB2 ligand-binding domain that are required for negative regulation and are absent in THRA1.
Hippocampal transcriptome profile of persistent memory rescue in a mouse model of Thra1 mutation-mediated resistance to thyroid hormone has been reported.
deletion of TRalpha in ApoE(-/-) mice alters cardiac structure and contractility; both could contribute to blunted BP response to physical exercise and impaired exercise performance
Data (including data from studies in knockout mice) suggest mitochondrial T3Ralpha in brown adipose tissue is key to regulation of energy metabolism; knockout mice exhibit hypermetabolism/hyperphagia, but not cold intolerance/defective thermogenesis.
Data (including data from studies in mutant strains of mice) suggest Thra1 (but not Thrb) plays role in myogenesis, cell proliferation, and resistance to T3 (triiodothyronine) in skeletal myoblasts; Thra1 promotes muscle regeneration after injury.
In thyroid receptor-deficient mice, hair follicle stem cells present a clear defect in their mobilization (exit of their quiescent state and migration out of the niche), associated with increased activation of Smad signaling.
the presence of a mutant TRalphaAMI allele in both Leydig and Sertoli cells does not accentuate the phenotype in comparison with its presence in Sertoli cells only.
These results indicate that postnatal exposure to a low dose of decaBDE on PNDs 1 through 5 lowers the testosterone level and the levels of Ar and Thra transcripts in Sertoli cells, accompanied by an imbalance in the ratios of Thra splicing variants
The thyroid hormone nuclear receptor TRalpha1 controls the Notch signaling pathway and cell fate in murine intestine.
Direct and indirect consequences on gene expression of a thyroid hormone receptor alpha 1 mutation restricted to Sertoli cells.
TRalpha is essential for the control of vascular tone, particularly thyroid hormone-mediated relaxation.
TRalpha/T3 directly acts on the P450c17 promoter, which contains putative thyroid response elements, and indirectly acts on the promoter of steroidogenic enzyme genes by modulating Nur77 transactivation on these promoters.
The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported.
, ERBA-related 7
, V-erbA-related protein 7
, nuclear receptor subfamily 1 group A member 1
, thyroid hormone receptor alpha
, thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)
, thyroid normone nuclear receptor alpha variant 1
, triiodothyronine receptor
, thyroid hormone receptor alpha 2
, nuclear receptor subfamily 1 group A member 1-A
, thyroid hormone receptor alpha-A
, thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog)
, thyroid hormone receptor alpha 1
, thyroid hormone receptor alpha-1
, Thyroid hormone receptor alpha 1 (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 1 formerly ERBA1)
, avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 1
, c-erb-A thyroid hormone receptor
, TR alpha 1
, TR alpha 2
, c-erb-A protein
, thyroid hormone receptor alpha1
, thyroid hormone receptor alpha2
, Nuclear receptor subfamily 1 group A member 1-A