Ask about this productRelated genes to: TNRC6B antibody
- Gene:
- TNRC6B NIH gene
- Name:
- trinucleotide repeat containing adaptor 6B
- Previous symbol:
- -
- Synonyms:
- KIAA1093
- Chromosome:
- 22q13.1
- Locus Type:
- gene with protein product
- Date approved:
- 2004-12-17
- Date modifiied:
- 2019-01-11
Related products to: TNRC6B antibody
Related articles to: TNRC6B antibody
- encodes a core effector of the RNA-induced silencing complex and is essential for miRNA-mediated gene silencing. Pathogenic variants in have recently been associated with a neurodevelopmental disorder characterised by developmental delay, intellectual disability, and behavioural difficulties. We report a three-generation family with a 22q13.1 deletion encompassing only exons 2-23 of . Clinical data were collected from medical records and family interviews, and the findings were compared with those of published cohorts. Affected individuals presented with developmental delay, speech and language impairment, autism spectrum disorder, ADHD, oppositional defiant disorder, craniosynostosis, joint laxity, clinodactyly, and cardiac valve anomalies. The father and paternal grandmother had learning difficulties and neurobehavioral features, while the proband exhibited a more severe phenotype. This report expands the phenotypic spectrum of -related neurodevelopmental disorder, highlighting craniosynostosis, joint and connective tissue features, and cardiac involvement. Our findings also underscore variable expressivity across generations and emphasise the relevance of both copy-number and sequence variants in in patients with neurodevelopmental disorders. - Source: PubMed
Publication date: 2026/04/15
Archer JessicaO'Donnell SheridanBuckman MelissaBain NicoleGoel Himanshu - This study investigated associations between SNPs in miRNA-related genes (, , , ) and acute lymphoblastic leukemia (ALL) susceptibility in Chinese children and adolescents. - Source: PubMed
Publication date: 2026/04/02
Cao XiaoqingWang LingyunKang YurouTai PingChen NayunLiu YangYang YanliFang DaihuaHe Bangshun - Background β-thalassemia is a common monogenic genetic disorder, characterized by reduced or absent synthesis of β-globin chains. High fetal hemoglobin (HbF) levels can alleviate the severity of anemia in β-thalassemia, and miRNAs can regulate the expression of globins. MiR-329-3p is a miRNA that is differentially expressed in β-thalassemia. Aim this study mainly investigated the expression of miR-329-3p in the peripheral blood of children with β-thalassemia, analyzed its clinical diagnostic value in β-thalassemia, and further studied the regulatory effects of miR-329-3p on its target genes TNRC6B and γ-globin. Methods the expression levels of miR-329-3p, TNRC6B, and γ-globin were verified by reverse transcription quantitative real-time polymerase chain reaction (RT-qPCR). The interaction relationship between miR-329-3 and TNRC6B was confirmed through dual-luciferase assay. Cell viability was detected by the CCK8 method, cell migration rate was verified by Transwell assay, and cell apoptosis rate was determined by cell flow cytometry. Results in children with β-thalassemia, miR-329-3p is upregulated and positively correlates with γ-globin, while TNRC6B is downregulated. MiR-329-3p demonstrates potential diagnostic and prognostic value for β-thalassemia. MiR-329-3p interacts with TNRC6B, and their expression levels show a negative correlation. Knocking down miR-329-3p suppresses the activity and migration of red blood cells, promotes apoptosis, and reduces γ-globin. Conversely, miR-329-3p overexpression enhances red blood cell function, inhibits apoptosis, and increases γ-globin. Conclusions MiR-329-3p has clinical significance in the diagnosis of β-thalassemia. It can inhibit the expression of TNRC6B by upregulation and promote the expression of γ-globin. - Source: PubMed
Publication date: 2026/03/26
Zhao YongGao JuyiLi YanwenLi ShashaLi WeidanCen Meini - Exposure to waste anesthetic gases (WAGs) is an underestimated occupational hazard in veterinary operating rooms (VORs), where insufficient ventilation and the absence of scavenging systems remain common worldwide. Veterinarians occupationally exposed to WAGs have been poorly investigated to date. Addressing this critical gap, we present the first integrative study evaluating circulating microRNAs (miRNAs), global DNA methylation, and urinary anesthetic quantification in veterinarians occupationally exposed to WAGs isoflurane and sevoflurane. In a case-control design, plasma profiling revealed 11 dysregulated miRNAs in the exposed group (n = 29) compared to the control group (n = 28) based on nominal p-values (p < 0.05), as part of an exploratory screening approach, including seven upregulated miRNAs meeting a predefined fold-change criterion (FC≥1.5). Among these, hsa-miR-1252-5p and hsa-miR-520f-3p showed robust discriminatory performance based on Receiver Operating Characteristic (ROC) curve analysis (AUC≥0.70). Functional enrichment analysis highlighted epigenetic regulators as major network hubs. For hsa-miR-1252-5p, hubs included EP300, TP53, CREBBP, HDAC1 and SIRT1, linking miRNAs modulation to histone acetylation/deacetylation, DNA damage response, apoptosis, and stress regulation. For hsa-miR-520f-3p, included MAPK1, TNRC6B, MECP2 and KMT2A, associated with cell signaling pathways, proliferation and epigenetic regulation. Global DNA methylation levels did not differ significantly between groups, suggesting that exposure under the evaluated conditions may not trigger genome-wide alterations. Occupational exposure was confirmed by urinary quantification of isoflurane and sevoflurane, indicating highly polluted workplaces. In conclusion, although global DNA methylation remained unchanged, WAG exposure was associated with modulation of circulating miRNAs, and our findings suggest that hsa-miR-1252-5p and hsa-miR-520f-3p emerge as potential biomarkers of effect associated to WAG occupational exposure in veterinarians who work in inadequately equipped VORs. - Source: PubMed
Publication date: 2026/03/18
Grassi Tony FernandoSilva Mariane Aparecida PereiraDestro Maria VitóriaMinutentag Iael WeissbergReis Patrícia PintorDe Martinis Bruno SpinosaCappetta MónicaBraz Leandro GobboBraz Mariana Gobbo - Psychosis is a clinically heterogenous disorder associated with significant difficulties with social and occupational function (psychosocial disability; PD). While environmental and cognitive factors are identified predictors of PD, the genetic contribution remains unclear. Here, we investigated the hypothesis that objective social participation (SP) and occupational engagement are genetically influenced. We performed mixed-linear-model genome-wide association studies of these phenotypes in the UK Biobank (N∼404,500) and a series of post-hoc analyses including Mendelian randomization (MR) to interpret findings. SP was defined as the frequency of social visits and leisure activities based on response to questionnaires. Occupational engagement was represented by two variables: occupational function (OF) and the established Not in Education, Employment, and Training (NEET) measure, both derived from employment status responses. We identified 17 independent loci for SP, with a SNP-based heritability of 4.1%. A list of contributory genes included TNRC6B, STAU1, CDH7, GBE1, DDX27, and several known schizophrenia risk genes including CSE1L, ZNF536 and TCF4. The regulation of synaptic signalling was implicated in the biology of SP by gene-set analysis. SNP-based heritabilities for OF and NEET were 1.8% and 1.3% respectively and DRD2 was associated with both phenotypes by gene-based analysis. Reduced SP and occupational engagement demonstrated genetic correlations with an increased risk for neuropsychiatric disorders, socioeconomic deprivation, lower cognitive ability, loneliness, neuroticism and chronic pain. MR indicated that attention-deficit hyperactivity disorder and schizophrenia were likely causal for reduced occupational engagement. PD has a genetic component with shared genetic links and relationships with neuropsychiatric disorders and related traits. - Source: PubMed
Publication date: 2026/01/18
Doherty EvieLaighneach AodánCasburn MiaQuilligan FergusDonohoe GaryCannon Dara MMorris Derek W