Ask about this productRelated genes to: Thra Blocking Peptide
- Gene:
- THRA NIH gene
- Name:
- thyroid hormone receptor alpha
- Previous symbol:
- THRA1, THRA2, ERBA1
- Synonyms:
- EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1
- Chromosome:
- 17q21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2018-01-29
Related products to: Thra Blocking Peptide
Related articles to: Thra Blocking Peptide
- Resistance to Thyroid Hormone Alpha (RTHα) is a rare genetic disorder caused by pathogenic variants in the Thyroid Hormone Receptor Alpha (THRA) gene, characterized by tissue-specific hypothyroidism despite often normal circulating thyroid hormone levels. In this report, we describe a family of three individuals-two sisters and their mother-carrying a heterozygous missense variant (c.1207G>A) in THRA. The variant was identified after evaluation of the daughters for short stature, increasing adiposity, and delayed bone age. Hormonal assessments revealed subtle thyroid function abnormalities, including low-normal free thyroxine (FT4), high-normal free triiodothyronine (FT3), an elevated FT3/FT4 ratio, and normal thyroid-stimulating hormone (TSH) levels. Additional clinical features included variably present delayed dentition, chronic constipation, and hepatic steatosis. Both sisters exhibited normocytic anemia and delayed language development. This report adds novel insight by documenting intrafamilial variability and age-related attenuation of biochemical abnormalities in a family carrying a previously described THRA variant. It emphasizes the risk of missed diagnosis when relying solely on thyroid function tests and illustrates the importance of family-based evaluation across the lifespan, including in adults who may present with subtler biochemical or metabolic abnormalities. RTHα should be considered in patients with growth delay, disproportionate weight gain, persistent normocytic anemia, or developmental delay, even when thyroid hormone levels appear near-normal. Awareness of these patterns can prevent delayed diagnosis and support individualized clinical management. - Source: PubMed
Publication date: 2026/06/16
Nauwynck EliseRyckx SofieKlink DanielVermaning SietskeMeuwissen MarijeBillion LisaDe Schepper Jean - Developing methods to promote tooth movement can help reduce the duration of orthodontic treatment for patients. A mouse model of orthodontic tooth movement (OTM) was established to analyze the key role of the IL-33/ST2 signaling pathway in this process. Human periodontal ligament fibroblasts (hPDLFs) and human CD14 monocytes were isolated to investigate the effect of IL-33/ST2 signaling on directed cell differentiation. Orthodontic mechanical force induced the protein expression of IL-33 and ST2 in periodontal tissues. Injection of recombinant mouse IL-33 protein (10 µl, 10 µg/mL, every other day) accelerated tooth movement, increased the proportion of proinflammatory macrophages (CD45CD11bF4/80Ly6C), decreased the proportion of reparative macrophages (CD45CD11bF4/80CD206), and upregulated the expression of cathepsin K in periodontal tissues. In contrast, injection of anti-mouse ST2 antibody (10 µl, 100 µg/mL, every other day) exerted the opposite effects. THRA was identified as a transcriptional activator of IL-33 in hPDLFs, and its expression was also induced by orthodontic mechanical force. Additionally, the IL-33/ST2 signaling pathway promoted osteoclast differentiation of human monocytes. IL-33 accelerates OTM by promoting M1 differentiation of macrophages and osteoclast formation. - Source: PubMed
Publication date: 2026/06/11
He ZhengquanTian HuanLiu XingyuDuan YigeChen MengshanLuo Zhenyan - Resistance to thyroid hormone alpha (RTHα) is a rare genetic disorder with symptoms of hypothyroidism, but normal or close-to-normal thyroid function tests. Treatment with levothyroxine (L-T4) may be beneficial. This study investigated the efficacy, safety and biochemical changes of high-dose L-T4 and liothyronine (L-T3) treatment. - Source: PubMed
Publication date: 2026/06/11
Westbye Alexander BauerDahll Louise KorenBredahl May KristinThorsby Per MedbøeHammerstad Sara Salehi - Neural crest cells (NCCs) drive vertebrate development through lineage specific differentiation into diverse tissues. Cranial (cNCCs) and trunk NCCs (tNCCs) exhibit distinct developmental trajectories that require coordinated epigenomic regulation. Aberrant NCC differentiation is associated with diseases including tumors. Epigenetic mechanisms such as histone modifications and DNA methylation are crucial for regulating NCC differentiation. Here, we used a human induced pluripotent stem cell model to compare differentiation of cNCCs and tNCCs and define lineage specific mechanisms. Integrated transcriptome and DNA methylome analyses revealed that DNA demethylation upstream of in cNCCs and the locus (a shared promoter region for and isoforms) in tNCCs was associated with increased expression of and . MEF2C and THRA2 were associated with NCC markers. These findings define epigenomic features underlying lineage divergence and provide insight into NCC-related diseases such as leiomyosarcoma and neuroblastoma. - Source: PubMed
Publication date: 2026/05/22
Mukae KyosukeShindo MayaShi TianyuanOnuki RitsukoYamashita SatoshiHattori NaokoUshijima ToshikazuOhira MikiKamijo Takehiko - L-valine is an essential amino acid for animal nutrition. Ideally, it can be produced from D-glucose through homotypic L-valine fermentation in a growth-coupled manner. To date, no known microorganism, native or engineered, can grow on D-glucose and ammonia anaerobically with L-valine as the sole product. Here, we direct the metabolic flux through a reinforced L-valine synthetic pathway by blocking mixed-acid fermentation and L-alanine synthesis reactions to create an NADH driving force in Escherichia coli. We further evolve the engineered strain to debottleneck growth constraints by anaerobic growth rescue. The resulting evolved hyper-valine producer converts D-glucose in a 320 m reactor to 83.6 g/L L-valine within 60 h, reaching a yield of 0.55 g/g glucose (85% of the theoretical maximum). Through reverse engineering, we identify that more than a 10-fold improvement in anaerobic growth and L-valine production rate arises from the amplified L-valine synthetic pathway, the additional electron sinks and reprogramming of global regulation. Together, we changed the way of L-valine production into homotypic L-valine fermentation and demonstrate how E. coli variants adapted their metabolic activities and transcriptional regulation to boost fitness in an anoxic condition, with L-valine synthesis serving as the primary NADH-consuming pathway. - Source: PubMed
Publication date: 2026/05/29
Yang SiqiQian FenghuiWu TaoSun BingbingHe HuiqiQiao MengDong FengGao PengChen ZhaoZhang YingYang JunjieJiang YuYang Sheng