BCL11A Antibody - C-terminal region (ARP33041_P050)
- Known as:
- BCL11A Antibody - C-terminal region (ARP33041_P050)
- Catalog number:
- arp33041_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- BCL11A Antibody - C-terminal region (ARP33041_P050)
Related genes to: BCL11A Antibody - C-terminal region (ARP33041_P050)
- Gene:
- BCL11A NIH gene
- Name:
- BAF chromatin remodeling complex subunit BCL11A
- Previous symbol:
- EVI9
- Synonyms:
- BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856
- Chromosome:
- 2p16.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-02-28
- Date modifiied:
- 2019-01-25
Related products to: BCL11A Antibody - C-terminal region (ARP33041_P050)
Related articles to: BCL11A Antibody - C-terminal region (ARP33041_P050)
- β-thalassemia is a common inherited hemoglobin disorder caused by reduced or absent β-globin production, leading to ineffective erythropoiesis, chronic anemia, and, in severe cases, lifelong transfusion dependence. Although allogeneic hematopoietic stem cell transplantation can be curative, its use is limited by donor availability and transplant-related complications. In recent years, gene therapy has emerged as a promising alternative and has rapidly changed the treatment landscape for β-thalassemia. In this review, we summarize both established and emerging gene-based strategies, including lentiviral gene addition to restore HBB expression and gene editing approaches aimed at reactivating fetal hemoglobin. We discuss key targets such as the erythroid-specific BCL11A enhancer, repressor-binding sites in the HBG promoters, and other regulatory elements involved in globin switching. We also highlight the growing potential of newer technologies such as base editing and prime editing, which may offer greater precision and reduce the risks associated with double-strand DNA breaks. Finally, we address the major challenges that still need to be resolved, including safety, durability, technical complexity, and access to treatment. Overall, gene therapy is moving β-thalassemia closer to a broadly applicable curative approach. - Source: PubMed
Publication date: 2026/04/23
Liang DongguoSchmidt-Wolf Ingo G HPu Jingjing - Systemic sclerosis is an immune-mediated inflammatory disease with marked sex differences in prevalence and severity. Although genome-wide association studies (GWAS) have advanced the understanding of systemic sclerosis genetics, sex-aware approaches remain scarce. We aimed to address this gap by examining autosomal sex-specific genetic factors in systemic sclerosis. - Source: PubMed
Publication date: 2026/04/15
Rodriguez-Martin InmaculadaKerick MartinRangel-Peláez CarlosRosa-Baez CarlosBorrego-Yaniz GonzaloOrtiz-Fernández LourdesGuillen-Del-Castillo AlfredoSimeón-Aznar Carmen PCallejas José LuisDistler OliverProudman Susanna MNikpour MandanaHunzelmann Nicolasde Vries-Bouwstra Jeska KHerrick Ariane LAllanore YannickAlarcón-Riquelme Marta EBeretta LorenzoAssassi ShervinDenton Christopher PMayes Maureen DMartin JavierAcosta-Herrera Marialbert - Precise establishment of distinct cerebral cortex circuits is essential for sensorimotor function, high-level cognition, and cross-modality integration and association. Although an increasing set of molecular controls over subtype-specific cortical wiring have been identified, much less is known about how molecules in growth cones (GCs) regulate precise long-range projection of axons through complex environments, or how dysregulation of GC molecular machinery disrupts precision of circuit formation. Here, we discover a generalizable mechanism for regulation of precise circuit wiring by focusing on callosal projection neurons (CPN), which link cortical hemispheres via the corpus callosum. CPN are centrally involved in associative and cognitive function, and are often disrupted in people with autism spectrum disorders (ASD) and intellectual disabilities (ID). We identify dysregulated subcellular CPN GC proteomes after CPN-specific deletion of , a transcription factor (TF) with variants that cause ASD/ID in humans, and validate localization of dysregulated proteins to CPN GCs . We identify that disruption of Lrrtm2 - a canonically postsynaptic transmembrane protein - in CPN GCs specifically induces innervation of the amygdala, an evolutionarily ancient regulator of social behavior, cognition, and anxiety that is abnormally activated in humans with ASD. Mechanistically, we identify that deletion of from CPN disrupts targeting of Lrrtm2 to CPN GC membranes, causing cytoplasmic sequestration of key CPN GC surface proteins, and resulting in aberrant innervation of basolateral amygdala (BLA), which is typically targeted by evolutionarily older archicortex. Together, this work connects deletion of a causal ASD/ID TF, dysregulation of a non-canonical control over GC surface protein remodeling, and formation of a , subtype-specific circuit between cerebral cortex and BLA - similar mechanisms likely generalize across neuron subtypes. These results expand conceptual understanding of how diverse circuits are precisely constructed and potentially evolve, and how coordinated dysregulation of GC molecules can disrupt precise subtype-specific circuitry, contributing to diverse neurodevelopmental and neuropsychiatric disorders. - Source: PubMed
Publication date: 2026/04/12
Tillman Dustin EDurak OmerVeeraraghavan PriyaFroberg John EWheeler GarrettBudnik BogdanMacklis Jeffrey D - Individuals with sickle cell anaemia (SCA) exhibit significant clinical heterogeneity influenced by several factors, especially fetal haemoglobin (HbF) levels. Variations in adult HbF levels are partly explained by the co-inheritance of genetic variants that regulate globin expression. In this study, we investigated the association of BCL11A rs4671393, rs1427407, rs11886868 and HBS1L-MYB rs9399137 polymorphisms with HbF levels and clinical complications in a cohort of 409 adult Brazilian SCA patients. Our findings reveal that variant alleles of all four single-nucleotide polymorphisms (SNPs) were significantly associated with higher HbF levels. Moreover, homozygosity for the major alleles was independently associated with higher risk and cumulative incidence of stroke, avascular necrosis, leg ulcers, priapism and acute chest syndrome. Haplotype analysis with BCL11A variants was also associated with HbF and the patient's phenotype. A genetic risk score (GRS) combining the risk genotypes was significantly associated with lower HbF levels (p < 0.0001) and increased complication risk (p < 0.0001). A model integrating the GRS with clinical variables demonstrated superior discriminatory performance (area under the curve (AUC): 0.72) compared to models based solely on clinical factors. In summary, this study underscores the clinical relevance of HbF-related genetic variants and supports their integration into risk stratification and personalized management strategies for SCA. - Source: PubMed
Publication date: 2026/04/16
Arcanjo Gabriela SSilva Alexsandro PDiniz Madi VDomingos Igor FPereira-Martins Diego AAraújo Amanda BFrança Talita S SAnjos Ana CAraujo Aderson SBelini-Junior EdisSaad Sara T OCosta Fernando FLucena-Araujo Antonio RBezerra Marcos André C - To investigate the clinical value of miR-192-5p in β-thalassemia and its regulatory mechanism on BCL11A, a total of 109 patients with β-thal and 110 healthy controls were enrolled. miR-192-5p and BCL11A mRNA levels in peripheral blood were detected by RT-qPCR. Correlations between miR-192-5p and clinical indicators were analyzed via the Pearson coefficient. ROC curves evaluated their diagnostic value. Dual-luciferase reporter, RIP, and cell transfection assays verified the targeting relationship between miR-192-5p and BCL11A. miR-192-5p was upregulated in β-thal patients, with an AUC of 0.894 for distinguishing patients from controls. It was higher in the high HbF group than the low HbF group, and the AUC of 0.822 for subgroup distinction. miR-192-5p negatively correlated with MCV, MCH, HbA, and positively with HbF. BCL11A was downregulated in patients and negatively correlated with miR-192-5p. miR-192-5p targeted BCL11A 3'UTR to inhibit its expression. miR-192-5p is a potential diagnostic biomarker for β-thal and its targeted regulation of BCL11A provides new insights for therapy. - Source: PubMed
Publication date: 2026/04/15
Gao JuyiLi YanwenLi WeidanLi ShashaLi Shaoyun