Ask about this productRelated genes to: Bnc2 antibody
- Gene:
- BNC2 NIH gene
- Name:
- basonuclin 2
- Previous symbol:
- -
- Synonyms:
- BSN2, FLJ20043
- Chromosome:
- 9p22.3-p22.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-04-29
- Date modifiied:
- 2018-02-13
Related products to: Bnc2 antibody
Related articles to: Bnc2 antibody
- (CT) infection is one of the most prevalent sexually transmitted infections (STIs) worldwide and has been consistently associated with adverse reproductive outcomes, including female infertility. However, the molecular mechanisms underlying this association remain incompletely understood. This study aimed to investigate whether genes previously associated with female infertility display altered expression patterns in response to CT infection by reanalyzing publicly available transcriptomic data derived from a human in vitro infection model. : An integrative in silico approach was employed. A curated list of 106 genes associated with female infertility was compiled from publicly available databases and integrated with transcriptomic data from the Gene Expression Omnibus (GEO) dataset GSE109428, which profiles primary human fallopian tube mesenchymal cells infected in vitro with CT serovar L2. Gene expression changes were evaluated at two time points (24 and 48 h post-infection) by comparing infected cells with uninfected control samples, followed by functional and phenotype enrichment analyses. : One female infertility-associated gene () was consistently dysregulated at both 24 and 48 h post-infection. In addition, fourteen genes (, , , , , , , , , , , , , and ) became significantly dysregulated exclusively at 48 h post-infection, indicating a time-dependent host transcriptional response to CT infection. Functional and phenotype enrichment analyses revealed associations with biological processes related to embryonic development and meiosis, as well as phenotypes linked to female infertility. These enriched terms were supported by a small subset of genes and were therefore interpreted cautiously. Overall, these findings suggest that CT infection modulates the expression of several infertility-associated genes and may influence biological pathways critical for female reproductive function. While exploratory, this study provides a molecular context that aligns with previously reported associations between CT infection and female infertility. - Source: PubMed
Publication date: 2026/03/01
Rodrigues RafaelaSousa CarlosVale Nuno - Although distant metastasis is uncommon in differentiated thyroid carcinoma (DTC), it remains the leading cause of thyroid cancer-related mortality. The genetic landscape of distantly metastatic DTC (DMDTC) has not been well characterized in large cohorts. This study aimed to identify functional genetic alterations in DMDTC and validate their biological significance. We included 78 patients with DMDTC and performed DNA-based next-generation sequencing (NGS) in all cases, followed by RNA-based NGS for fusion gene detection, along with a review of previously reported isolated cases. Plasmids harbouring novel variants, including SPON1::ALK and RFTN1::BRAF fusions, and mutations in PTEN (c.322_345del, c.740del, c.968dup), STK11 (c.842C>T, c.1225C>T), and DNMT3A (c.891G>A, c.2312G>A, c.2595A>T, c.2606G>A) were constructed and transfected into TPC-1 and HEK293T cells to investigate downstream signalling. The methylation status of differentially methylated genes (DMGs) associated with DNMT3A mutations was analysed using the Infinium MethylationEPIC v2.0 BeadChip, with several DMGs validated by real-time quantitative PCR. The cohort consisted of 25 males and 53 females, with a mean age of 60.3 years at the diagnosis of metastasis. Histological types included papillary carcinoma (31 cases), follicular carcinoma (44 cases), and oncocytic carcinoma (3 cases). The lung and bone were the most common metastatic sites. Multiple metastases and older age were associated with metastasis-free and overall survival. Genetic alterations involving phosphorylation signalling pathways were identified in 61 cases, among which pathological alterations of DNA damage repair (DDR)-related genes were detected in ten cases. Novel RFTN1::BRAF and SPON1::ALK fusions, along with PTEN (c.740del, c.968dup) and STK11 (c.842C>T) mutations, could enhance downstream phosphorylation levels. DNMT3A mutations (c.891G>A, c.2312G>A, c.2595A>T, c.2606G>A) induced genome-wide methylation dysregulation, with altered expression of SLC12A7, FLNC, HMGB2, BNC2, and DAPK1. This study shows that DMDTCs are characterized by dysregulated phosphorylation signalling, accompanied by chromosomal instability and aberrant methylation, thus underscoring DDR gene-targeted therapy as a promising strategy. © 2026 The Pathological Society of Great Britain and Ireland. - Source: PubMed
Publication date: 2026/03/25
Kong WeimaoBao LongnvHu JianxiaLi GuangqiLiu YixuanRan WenwenZhang TinglingGu HaiyanZhang XinyiWang MeiliJi HongZong XuzhangZhang YongshengDang ShouqinLi DongFa LianglingYu XunzongPan XingzhuLi XueqingWang Jigang - The inherent heterogeneity of adipose-derived stem cells (ADSCs) complicates their characterization, as aggregated data obscure the nuanced states of individual cells and are skewed by dominant functional subpopulations affecting genetic and biological profiles. This heterogeneity presents a significant challenge for the effective deployment of ADSCs in clinical and research settings, highlighting the necessity for precise identification and isolation of specific subsets according to stringent criteria. Using single-cell RNA + ATAC multi-omics technology, we sequenced ADSCs derived from human adipose tissue through extraction, culture, and purification. This analysis identified three distinct subsets-proliferative, functional, and senescent-each exhibiting unique stemness properties. Notably, within the functional subset, cluster 6 emerged as a prime candidate for cellular engineering, showcasing robust stemness, high proliferative capacity, and low senescence. Our findings also reveal ADSCs' predisposition toward neuro-lineage differentiation, with their spatial distribution reflecting developmental trajectories and biological functions. In-depth analysis uncovered subset-specific genes with unique chromatin accessibility patterns, critical for targeted differentiation. Significantly, stemness markers BNC2 and HMGA2 were identified as indicators of non-senescent ADSCs. Through single-cell multi-omics sequencing, we have mapped a comprehensive cellular atlas of ADSCs, elucidating their transcriptional and chromatin profiles to unravel their complex heterogeneity. This atlas not only elucidates variations in composition, function, stemness, and developmental stages across subsets but also identifies essential biomarkers for ADSCs quality control, establishing a robust foundation for advancing ADSC-based therapeutic strategies. - Source: PubMed
Publication date: 2026/02/20
Long QingxiYuan YiLiu ZhenjiangZhang PingshuYuan Xiaodong - The article presents the current state of knowledge on genetic modifiers of ovarian cancer risk in women carrying pathogenic variants (PVs) in the and genes, which are major contributors to hereditary susceptibility to this malignancy. Although PV carriers have high disease penetrance (: ~40% and : 11-27%), substantial variability in individual risk is observed, suggesting the influence of additional genetic variants. Ovarian cancer is characterized by late detection and high mortality, and a significant portion of risk among carriers is shaped by reproductive and environmental factors as well as genetic modifiers. The article emphasizes that carriers of the same PV can exhibit markedly different risk levels depending on additional variants that modulate key biological processes, such as DNA repair, cell cycle regulation, and apoptosis. A systematic literature search covering the years 1996-2025 was conducted in the PubMed database. Initially, 734 publications were identified; after removing duplicates, thematically irrelevant articles, non-full-text papers, and studies not meeting the inclusion criteria, 47 articles were included in the review. These studies covered candidate gene analyses, GWAS, and data from the CIMBA consortium, which enables the examination of large cohorts of PV carriers. The review identified numerous variants associated with increased or decreased ovarian cancer risk in carriers, including the following: , , , , , , , , and The reviewed studies also identified both protective and risk-increasing variants among PV carriers: , , and , and haplotypes in , , , , , and The analysis identified 11 variants affecting both and carriers, most of which increase risk, including the following: , , , , , , and Protective variants include and . The only SNP reaching genome-wide significance ( < 5 × 10) was in . The article summarizes the growing number of genetic modifiers of ovarian cancer risk among carriers and highlights their potential to improve individualized risk assessment, enhance patient stratification, support personalized prevention and surveillance strategies, deepen the understanding of disease biology, and identify potential therapeutic targets. - Source: PubMed
Publication date: 2026/01/23
Cylwik DagmaraDwornik RoksanaBiałkowska Katarzyna - In recent years, several countries have undergone changes in their legal framework, now explicitly allowing the analysis of genetic markers for the purpose of forensic DNA phenotyping (FDP). Consequently, laboratory workflows for the analysis of appearance informative single nucleotide polymorphisms (SNPs) have been established in several laboratories. Currently, the HIrisPlex-S marker panel and webtool are the most widely used set of appearance informative SNP markers and statistical model used for phenotype predictions. However, many different laboratory protocols are employed for SNP genotyping, mostly using either massive parallel sequencing or single base extension technology. For the GEDNAP and TrACE proficiency tests, FDP modules were introduced in 2021 and 2023. These represented the first instances in which identical samples were analyzed by a fairly large number of laboratories, each of them employing their own laboratory-validated protocol. While mostly consistent phenotyping results were obtained, discrepant genotyping results were observed for some of the analyzed HIrisPlex-S-SNPs in BNC2, OCA2, and TYR. By performing a systematic in-silico analysis of commonly used primer sequences and sequencing the flanking regions of target SNPs in the affected samples from the collaborative exercises, we were able to identify primer binding site mutations, amplification of off-target products and overlap of SBE primers as risk factors for (analysis method-dependent) genotyping discrepancies. While the impact on phenotyping results was minor to negligible in all cases reported here, the issues uncovered by this in-depth analysis may provide a basis for improvements towards more consistent results in the future. - Source: PubMed
Publication date: 2026/01/08
Gosch AnnicaAnslinger KatjaNaue Jana