Ask about this productRelated genes to: SAMSN1 antibody
- Gene:
- SAMSN1 NIH gene
- Name:
- SAM domain, SH3 domain and nuclear localization signals 1
- Previous symbol:
- -
- Synonyms:
- NASH1, SASH2, SH3D6B, HACS1, SLy2
- Chromosome:
- 21q11.2
- Locus Type:
- gene with protein product
- Date approved:
- 2000-02-22
- Date modifiied:
- 2018-04-18
Related products to: SAMSN1 antibody
Related articles to: SAMSN1 antibody
- Immune infiltration plays an important role in the pathogenesis of both ulcerative colitis (UC) and colorectal cancer (CRC). Our aim is to explore the significance of immune cell-related genes in colitis-associated colorectal cancer (CAC). - Source: PubMed
Publication date: 2026/06/11
Chi ChunhuaLiu CongcongWang BenjunHan WeiweiZhang YunjieChen JianGao Shanyu - : Gaucher disease (GD) arises from pathogenic variants in the gene and is known for its wide range of clinical presentations-a variability that genotype alone cannot adequately account for. : This study aimed to explore transcriptomic factors that might help explain why two genetically identical twins with type 1 GD developed noticeably different clinical outcomes. : We isolated peripheral blood mononuclear cells from both twins and two age-matched controls, then differentiated them into macrophages in vitro before conducting RNA sequencing. Gene expression differences were analyzed using established bioinformatics pipelines, and a subset of genes were subsequently assessed by quantitative real-time PCR (qRT-PCR) to confirm the sequencing findings. : Both twins shared a GD-associated transcriptional signature broadly reflecting immune activation and lysosomal stress. Interestingly, the twin who experienced systemic complications had a relative enrichment of interferon-responsive transcripts, while the less severely affected twin showed more pronounced suppression of small nucleolar RNA clusters. That said, neither difference held up after correcting for multiple comparisons, so these patterns are best viewed as exploratory trends rather than definitive findings. The qRT-PCR results lend partial support to this picture: stress- and immune-related genes (, , ) trended toward higher expression in patients versus controls, and interferon-stimulated genes (, , ) were more elevated in M2 than in M1. : Taken together, these findings suggest that factors beyond genetics-whether epigenetic, environmental, or otherwise-may play a meaningful role in shaping how GD manifests differently even between individuals with identical DNA. Although the data are preliminary, they point to transcriptomic profiling, paired with targeted validation, as a useful starting point for building hypotheses about why this disease looks so different from one patient to the next, even when the underlying mutation is the same. - Source: PubMed
Publication date: 2026/04/29
İnci AslıAydoğdu Demirel SümeyyeErgin Filiz Başak CengizBiberoğlu GürselOkur İlyasEzgü Fatih SüheylTümer LeylaÖktem Rıdvan MuratDökmeci Serap - The psoriatic immune microenvironment (PIME) is central to psoriasis pathogenesis, yet its mechanistic drivers are incompletely defined. This study aimed to delineate immune cell infiltration patterns and identify pivotal disease-related immune genes through a systematic analysis of the PIME. - Source: PubMed
Publication date: 2026/03/19
Zheng TingjinXu RongZhang JianmingWen XiujuanHuang HaoTang HongfengZhang ZhishanZeng Chong - Alleviating hepatic lipid deposition in aging laying hens is critical for maintaining liver health and extending their productive lifespan. This study aimed to identify potential indicators and elucidate the underlying mechanisms associated with liver fat accumulation. Hepatic lipid ratio is a key indicator of the lipid deposition in the liver. A total of 509 healthy G1 line hens at 66 weeks of age were assessed for hepatic lipid ratio and stratified into three groups: low (L, <5%), medium (M, 5-10%), and high (H, >10%). The results revealed that the correlation coefficients of liver triglyceride (TG) and total cholesterol (TC) with the hepatic lipid ratio were 0.907 and 0.870, respectively, indicating a strong and highly significant association. All three metrics differed significantly among the three groups (P < 0.01), validating the grouping approach. Compared with the L group, the M and H groups showed significantly higher body weight, abdominal fat weight, abdominal fat index, plasma TG, TC, and LDL-c (P < 0.05), while plasma HDL-C was significantly lower in group H compared with groups L and M (P < 0.05). Abdominal skinfold thickness differed significantly across all groups (P < 0.05). Transcriptomic analysis revealed 115 up-regulated and 50 down-regulated genes in the H group compared with the L group. We identified: four genes (PCSK9, ABCG8, G6PC2, FOLH1) were associated with lipid metabolism; three (IL1RAPL1, TNIP2, HPSE2) with inflammatory response; five (CCL3, CCL17, CCL20, SAMSN1, ICOS) with immune response; and six (HBA1, HBAD, HBBA, CHAC1, CREG1, DDIT4) with antioxidant function. KEGG pathway analysis highlighted enrichments in lipid metabolism-related pathways such as "ABC transporters" and "Insulin secretion," as well as in the inflammatory response-related pathway "Cytokine-cytokine receptor interaction." In conclusion, body weight, abdominal skinfold thickness, plasma TG, TC, LDL-c, and HDL-c may serve as practical indicators for evaluating hepatic lipid deposition in laying hens. Excessive lipid accumulation perturbs hepatic metabolic homeostasis, triggering transcriptional reprogramming associated with both inflammatory and oxidative stress responses, alongside adaptive antioxidant defense and anti-inflammatory responses. However, further studies are required to determine whether these changes reflect a bona fide compensatory protective mechanism in the liver. - Source: PubMed
Publication date: 2026/03/13
Li YongfengWang XingguoTong HaibingQu LiangShao DanWang QiangGuo WeiGuo JunDou TaocunHu YupingLu JianMa MengFeng Chungang - NK cells are critical mediators of anti-tumor immunity whose function is frequently compromised in the tumor microenvironment. Here we identify SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1) as a previously unrecognized immune checkpoint that predominantly regulates NK cell function in hepatocellular carcinoma (HCC). Single-cell RNA sequencing (scRNA-seq) analysis reveals significant SAMSN1 upregulation in intratumoral NK cells from HCC patients, correlating with reduced granzyme B expression and poor prognosis. In orthotopic Hepa1-6 hepatocellular carcinoma models, global Samsn1 knockout (Samsn1) mice exhibits 34% tumor burden reduction with enhanced NK cell granzyme B production (P = 0.0002). Critically, NK cell-specific deletion alone (Samsn1-Ncr1) recapitulates this therapeutic effect (41% tumor burden reduction, P = 0.0017), demonstrating that SAMSN1 functions predominantly through intratumoral NK cells rather than other immune populations in the HCC microenvironment. Mechanistically, SAMSN1 suppresses NK cell activation, proliferation, and granzyme B production. These findings indicate SAMSN1 as a targetable NK cell checkpoint with direct therapeutic implications for HCC immunotherapy. - Source: PubMed
Publication date: 2026/01/21
Wang RuifengChen HuidiLiu HanyangLi QiangYao GuojingLi FulingSun PengDai TianliWang JiabeiNashan BjörnSun Cheng