Ask about this productRelated genes to: BCL11A Blocking Peptide
- 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 Blocking Peptide
Related articles to: BCL11A Blocking Peptide
- Fetal hemoglobin (Hb F) is the strongest endogenous modifier of sickle cell disease (SCD) severity, but its genetic regulation varies across populations. This review synthesized evidence on genetic determinants of Hb F and quantified effects of key variants through meta-analysis. Following PRISMA 2020 guidelines (PROSPERO: CRD420251042025), MEDLINE, EMBASE, Scopus, and Web of Science were searched through May 2026. Studies evaluating genetic associations with Hb F levels in SCD were included. Narrative synthesis and random-effects meta-analysis were performed. Eighty-four studies identified 80 variants across 32 genes associated with Hb F levels. The most consistently replicated associations involved (rs1427407, rs4671393, and rs11886868), the intergenic region (rs4895441, rs28384513), (rs7482144), and (rs2071746). Meta-analysis confirmed directionally consistent associations for seven of eight variants. Additional modifiers included , , , , , and . Hb F regulation in SCD is polygenic and influenced by both canonical and secondary modifiers, supporting genotype-guided therapeutic, and genome-editing strategies. - Source: PubMed
Publication date: 2026/08/17
Shende NandiniAthalye ShreyasiKamath SamriddhiRani PriyaMadkaikar ManishaBanerjee AninditaKhargekar Naveen - Major airway diseases, including chronic obstructive pulmonary disease (COPD), asthma, bronchiectasis and chronic rhinosinusitis without nasal polyps (CRSsNP), frequently coexist and share inflammatory, epithelial and remodeling features. However, whether these clinically distinct airway disorders are driven by a unified genetic liability and how this shared liability maps to disease-relevant tissues, genes and immune-regulatory programs remain incompletely understood. We integrated GWAS summary statistics for COPD, asthma, bronchiectasis and CRSsNP using linkage disequilibrium score regression, local genetic correlation analysis and Genomic structural equation modeling. A latent shared airway disease factor, termed gAirwayDisease, was constructed to capture common genetic liability across the four conditions. We then applied an integrative functional genomics framework, including gsMap spatial enrichment, PoPS gene prioritization, MAGMA gene-set enrichment, GTEx v8 lung MTWAS, OneK1K and DICE immune-cell MTWAS, scMORE regulon analysis and phenome-wide Mendelian randomization. All six airway disease pairs showed positive genetic correlations, with estimates ranging from 0.508 to 0.685. Genomic SEM supported a single shared factor, with positive standardized loadings for COPD, asthma, bronchiectasis and CRSsNP and excellent model fit. Spatial mapping localized gAirwayDisease-associated signals to airway- and epithelial-associated anatomical domains. PoPS prioritized immune and airway-relevant genes, including SMAD3, GATA3, IL1R1, RUNX3 and STAT6, while MAGMA enrichment highlighted B-cell activation, T-cell activation and transcriptional regulatory pathways. Lung MTWAS identified SLC9A2 and ORMDL3 as top genetically regulated expression signals. OneK1K immune-cell MTWAS highlighted recurrent IL18R1 associations across CD4 and CD8 T-cell subsets. scMORE further identified 36 significant regulon-cell type pairs across dendritic cells, B cells, monocytes, T cells and NK cells, including BCL11A, TCF4, KLF4, RUNX1 and STAT4 regulons. MR-PheWAS linked genetically predicted gAirwayDisease to respiratory, allergic, lung function and immune-related traits. This study defines gAirwayDisease as a genetically informed latent factor capturing shared liability across major airway diseases. Integrated functional genomic analyses highlight airway epithelial and immune regulatory programs associated with shared disease susceptibility and prioritize candidate genes and regulons for future experimental validation. - Source: PubMed
Publication date: 2026/08/20
Tu TianqiGuo YongjinLi QingLiu YutongJiang Liying - Peripheral T-cell lymphomas (PTCLs) are a heterogeneous group of clinically aggressive mature T-cell and natural killer (NK)-cell neoplasms that account for approximately 10-15% of all non-Hodgkin lymphomas in Western countries . The most common subtypes include extranodal NK/T-cell lymphoma (ENKTL), nodal T-follicular helper cell lymphomas, peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS), anaplastic large cell lymphoma (ALK-positive and ALK-negative), and T-cell lymphoblastic lymphoma. Non-coding RNAs (ncRNAs) constitute the majority of the human transcriptome and play critical roles in regulating gene expression, cellular proliferation, differentiation, migration, and apoptosis. Among these, long non-coding RNAs (lncRNAs) and circular RNAs (circRNAs) have emerged as key regulators of lymphomagenesis and disease progression in PTCLs. These molecules modulate diverse oncogenic pathways through chromatin remodeling, transcriptional regulation, competing endogenous RNA activity, and interactions with RNA-binding proteins, thereby influencing proliferation, immune evasion, treatment resistance, and clinical outcomes. Representative examples include the lncRNA TCLlnc1, which promotes PTCL progression through activation of transforming growth factor-β (TGF-β) signaling, and the circRNAs circKIF4A, circADARB1, and circ-LAMP1, which regulate miRNA-dependent signaling networks involving PDK1/BCL11A, STAT3, and DDR2, respectively. In this review, we summarize the current understanding of the biological and clinical roles of lncRNAs and circRNAs in PTCL and related T-cell and NK-cell neoplasms and highlight their potential as diagnostic and prognostic biomarkers as well as therapeutic targets. We also discuss recent advances and future directions for integrating ncRNA-based approaches into precision medicine for T-cell lymphoma. - Source: PubMed
Publication date: 2026/08/07
Abdullah Shahed Azzam AhmedFlavin Richard - The 2025 American Society of Hematology (ASH) Annual Meeting highlighted rapid advances in gene editing for hematologic diseases, with increasing emphasis on precision editing and early exploration of in vivo delivery strategies. Beyond technological development, several measurable parameters are emerging as potential biomarkers, including fetal hemoglobin (HbF), F-cell proportion, HbF/F-cell, editing durability, and long-term clonal monitoring. Clinical studies demonstrated that disruption of the BCL11A enhancer or editing of the HBG1/2 promoter can induce sustained HbF reactivation, which is associated with reduced transfusion burden or transfusion independence in transfusion-dependent β-thalassemia and improved clinical outcomes in sickle cell disease. Near-pancellular HbF distribution and HbF/F-cell levels above anti-sickling thresholds further support the pharmacodynamic value of HbF-related biomarkers. Long-term follow-up studies have also incorporated editing durability and clonal monitoring into safety assessment frameworks. Emerging platforms such as RNA Gene Writer and CD90-targeted virus-like particles have demonstrated the feasibility of in vivo hematopoietic stem cell editing, although challenges related to targeting efficiency, delivery specificity, immunogenicity, and long-term safety remain. Overall, ASH 2025 suggests a shift from achieving gene editing to quantifying efficacy, durability, and safety, with standardized biomarker frameworks likely to play an increasingly important role in future clinical translation. - Source: PubMed
Publication date: 2026/08/05
Zang ZezhouZheng WeiXu RuirongCui Siyuan - In vivo genetic engineering of haematopoietic stem and progenitor cells (HSPCs) holds the potential to revolutionize the treatment landscape for numerous diseases. However, despite its transformative potential, it remains hindered by the difficulty in efficiently and specifically targeting quiescent human HSCs while maintaining their long-term functionality. Here, after screening 15 lipid nanoparticles (LNPs), we report an LNP that efficiently delivers reporter mRNA to human HSPCs both in ex vivo and in vivo settings when conjugated with the anti-CD34 antibody (CD34/LNP). Using CRISPR/Cas editing cargos, CD34/LNP achieves high editing efficiency in human HSPCs ex vivo. Intrafemoral administration of CD34/LNP in humanized mice results in efficient editing of the erythroid-specific BCL11A enhancer within human HSPCs, enabling the sustained long-term reactivation of fetal haemoglobin (HbF) expression in erythroid cells. In a humanized neutropaenia model harbouring an ELANE mutation, intrafemoral administration of CD34/LNP achieves robust editing, targeting exon 2 of ELANE in human HSPCs, partially restoring neutrophil development impairment under long-term observation. Collectively, CD34-targeted delivery enables in vivo HSPC modification without perturbing haematopoiesis, underscoring its suitability for clinical translation. - Source: PubMed
Publication date: 2026/08/05
Du JingjingLuo ZijinXie DanChen YanYang MingLi QiangWang LishaHan LuZhang YimingLi HaiweiLan ZilinShi HaopingLi YinghuiCheng QiangDong FangGao YingdaiYao YaoCheng TaoWei TuoRao Shuquan