Ask about this productRelated genes to: RPL18A antibody
- Gene:
- RPL18A NIH gene
- Name:
- ribosomal protein L18a
- Previous symbol:
- -
- Synonyms:
- L18A
- Chromosome:
- 19p13.11
- Locus Type:
- gene with protein product
- Date approved:
- 1998-08-18
- Date modifiied:
- 2014-11-19
Related products to: RPL18A antibody
Related articles to: RPL18A antibody
- Immune checkpoint inhibitors (ICIs) have significantly improved outcomes in non-small cell lung cancer (NSCLC), yet their use is associated with a notable risk of immune-related adverse events, including checkpoint inhibitor–associated pneumonitis (CIP). The real-world incidence, risk magnitude, and underlying immunopathogenesis of CIP in NSCLC remain inadequately defined. - Source: PubMed
Publication date: 2025/12/17
Zhao WenboShen ShijuZhao Huafang - : Germline mutations account for ~15-20% of hereditary breast and ovarian cancer (HBOC) cases. While most are small sequence variants, structural rearrangements also contribute significantly to the pathogenic landscape. Conventional diagnostic workflows often miss such events, underscoring the need for comprehensive approaches. Here, we report a previously undescribed pathogenic mechanism-a transposon-mediated processed transcript insertion-expanding the mutational spectrum underlying hereditary breast cancer susceptibility. : The studied case was discovered during our germline genotyping routine: next-generation sequencing followed by library preparation with a custom hereditary cancer panel. The identified variant was validated by orthogonal sequencing and multiplex ligation-dependent probe amplification (MLPA). RNA-level functional assays, including nonsense-mediated decay inhibition, were conducted to assess transcript stability. Constitutional origin was confirmed by analysis of multiple normal tissues, and tumor material was evaluated for loss of heterozygosity (LOH). : NGS detected a 700 bp insertion in exon 16 of , corresponding to a complete processed transcript of . The insertion caused a frameshift and premature stop codon, triggering degradation of the aberrant transcript. The variant was present in multiple somatic tissues, and its heritable nature was further confirmed by genotyping a first-degree relative, who was also found to carry the insertion. Tumor DNA analysis revealed strong LOH with retention of the variant allele. : This study identifies, for the first time, a heritable processed transcript insertion as a pathogenic event in . Such variants are undetectable by conventional diagnostic workflows lacking structural variant analysis, highlighting the importance of comprehensive approaches for accurate diagnosis and genetic counselling in hereditary cancer syndromes. - Source: PubMed
Publication date: 2025/12/02
Bozsik AnikóButz HenriettGrolmusz Vince KornélNagy PetraPócza TímeaTóth ErikaCsernák ErzsébetPatócs AttilaPapp János - The study presented a novel approach to treating Huangshui, a typical organic wastewater from Chinese Baijiu industry, utilizing Saccharomyces cerevisiae (S. cerevisiae) to convert the carbon source from Huangshui into its cellular component, ultimately forming single cell protein (SCP). S. cerevisiae tended to use organic acids in Huangshui. Adjusting organic load could lower ammonia nitrogen, total organic carbon, total nitrogen and phosphorus from Huangshui, with their corresponding removals of 2.5 ± 0.15 %-39 ± 0.2 %, 21.34 ± 0.26 %-79.73 ± 2.3 %, 23.8 ± 0.16 %-87.86 ± 1.7 %, and 29.45 ± 0.15 %-62.78 ± 1.8 %, respectively. Optimal organic load (30 g/L) achieved remarkable SCP yield (5.83 ± 0.17 g/L) with 36.82 ± 3.02 % protein content. Transcriptomic analysis revealed that high organic loads (e.g., 260 g/L) caused the down-regulation of genes related to cell wall synthesis, including RHO1, CCW12 and CWP2, as well as genes associated with ribosome formation, such as RPL28, RPS21B, RPL18A and RPS4A. Carbon metabolic pathways including transformation of organic acids into acetyl-CoA and the tricarboxylic acid cycle were inhibited at 260 g/L. The expression of related genes like ACS1, IDP1 and LSC1 was down-regulated. This work demonstrated efficient organic load reduction coupled with high-quality SCP yield, offering a sustainable solution for Baijiu wastewater management. - Source: PubMed
Publication date: 2025/08/21
Zhang XiaoyingZhang HuiwenWang RuixiZhang ZhengyiYan XiaoZhang Jishi - Neuroblastoma (NB) is the most common extracranial solid tumor in early childhood and frequently presents with bone marrow (BM) metastasis, particularly in high-risk cases. Metastatic NB cells residing in the BM exhibit distinct biological behaviors and are closely associated with treatment resistance and poor prognosis. Emerging evidence suggests that metabolic reprogramming is a hallmark of NB progression; however, its regulatory landscape within the bone marrow microenvironment remains poorly understood. This study aimed to systematically elucidate the molecular mechanisms underlying metabolic reprogramming in bone marrow-infiltrating metastatic NB cells by integrating single-cell transcriptomic data, bulk RNA-sequencing profiles, and in vitro functional validation. Single-cell RNA-sequencing data from 17 bone marrow aspirates of NB patients-with and without marrow infiltration-were retrieved from the GEO database, while bulk RNA-seq data from 155 NB tumor samples were obtained from the TARGET database. A suite of bioinformatics tools, including Seurat, Harmony, CellChat, and SCENIC, was employed to perform multi-dimensional analyses such as cell subtype annotation, intercellular communication mapping, and transcription factor regulon construction. AUCell scoring, differential gene expression analysis, random survival forest modeling, and Kaplan-Meier survival analysis were conducted to identify key genes involved in metabolic reprogramming and to characterize their immune infiltration features. Gene Set Enrichment Analysis (GSEA), Gene Set Variation Analysis (GSVA), and single-cell pathway scoring were applied to predict the metabolic and immune pathways associated with these candidate genes. Furthermore, co-expression network analysis was used to evaluate the relationships between candidate genes and known NB regulatory factors. Finally, in vitro experiments were carried out to validate the roles of selected genes in regulating NB cell proliferation, migration, invasion, and mitochondrial function. Single-cell transcriptomic analysis of bone marrow-derived NB samples identified nine distinct cell subpopulations with diverse intercellular communication networks. Among these, the ligand-receptor pair MDK-NCL emerged as a key mediator of cell-cell signaling. Regulatory network analysis revealed five critical regulons-JUND, JUNB, FOS, E2F1, and KLF16-closely associated with metabolic reprogramming in NB. The "Neuroblastoma cell" cluster displayed markedly elevated metabolic activity. Through integrated analyses, five core metabolic reprogramming genes (MRPL21, NHP2, RPL13, RPL18A, and RPL27A) were identified and shown to be significantly associated with poor prognosis. High expression of these genes correlated with an immunosuppressive tumor microenvironment, characterized by reduced infiltration of monocytes, M1 macrophages, and T cells. Functional enrichment analysis revealed that these genes were primarily enriched in oxidative phosphorylation, MYC targets, PI3K-Akt, and p53 signaling pathways. Co-expression network analysis further demonstrated that MRPL21 and NHP2 positively correlated with known NB regulatory genes TP53, NRAS, and NKIF1B. In vitro assays confirmed that MRPL21 knockdown significantly impaired NB cell proliferation, migration, invasion, and mitochondrial oxidative phosphorylation. This study identified five key genes involved in metabolic reprogramming of bone marrow-infiltrating NB cells, which are closely associated with immunosuppressive microenvironment formation and enrichment in tumor-associated metabolic pathways. Among these, MRPL21 plays a pivotal role in regulating NB cell proliferation and mitochondrial function, underscoring its potential as a promising therapeutic target. These findings suggest that integrated strategies targeting both tumor metabolism and the immune microenvironment may provide new avenues for the treatment of high-risk, metastatic NB. - Source: PubMed
Publication date: 2025/08/05
Chu JingQin RongWang Shu-JingWang QiangWu Qiang - The migration of gonadal distal tip cells (DTCs) in Caenorhabditis elegans serves as an excellent model for studying the migration of epithelial tubes during organogenesis. Mutations in the mig-17/ADAMTS gene cause misdirected DTC migration during gonad formation, resulting in deformed gonad arms. An amino acid substitution in RPL-20, the ortholog of mammalian RPL18a/eL20, a component of the 60 S ribosomal large subunit, exhibited a slow-growth phenotype and strongly suppressed the mig-17 gonadal defects. Slow-growing mutations clk-1 and clk-2 also suppressed mig-17. Intestine-specific overexpression of mutant RPL-20 protein resulted in a slow-growth phenotype and suppressed the mig-17 gonadal defects, but these effects were much weaker when wild-type RPL-20 was overexpressed, suggesting that the mutant RPL-20 protein acquired a novel function. Analysis of ribosome profiles revealed reduced biogenesis of the 60 S subunit, leading to a reduction of 80 S ribosomes in the rpl-20 mutant. These results suggest that DTC migration defects in mig-17/ADAMTS mutants can be partly suppressed by growth retardation caused by the rpl-20 mutation. While defective ribosome biogenesis may contribute to the observed growth retardation, further investigation is needed to clarify the molecular basis of this phenomenon. - Source: PubMed
Publication date: 2025/07/21
Kim Hon-SongMitsuzumi KaitoKondo ShoheiYamaoka RieIhara ShinjiOtsuka HiroshiYoshikata ChizuKubota YukihikoTomohiro TakumiFujiwara ToshinobuKimura KenjiMotegi FumioShibata YukimasaTakahashi MikikoNishiwaki Kiyoji