Ask about this productRelated genes to: PTPRM antibody
- Gene:
- PTPRM NIH gene
- Name:
- protein tyrosine phosphatase receptor type M
- Previous symbol:
- PTPRL1
- Synonyms:
- RPTPU, hR-PTPu
- Chromosome:
- 18p11.23
- Locus Type:
- gene with protein product
- Date approved:
- 1991-08-23
- Date modifiied:
- 2019-02-14
Related products to: PTPRM antibody
Related articles to: PTPRM antibody
- 18p deletion syndrome (OMIM #146390) displays a variable clinical spectrum due to differences in deletion size, position, and penetrance. While several classical phenotypes have been linked to specific genomic regions, many genotype-phenotype correlations remain elusive. Here we present a 30-year-old female patient with the classical features of 18p deletion syndrome, along with reproductive endocrine abnormalities, including elevated prolactin levels and diminished ovarian reserve. Chromosomal microarray revealed a 13.85 Mb deletion at 18p (arr[GRCh37]18p11.32p11.21(136,228_13,986,303)x1). To better delineate the clinical and molecular cytogenetic findings associated with monosomy 18p and explore genotype–phenotype correlations, we also reviewed 41 reported cases (including the present case) with confirmed genomic deletions indexed in the PubMed database between 2010 and 2025. The results showed that terminal deletions were most common (66%), with interstitial deletions accounting for 32%. Among cases with breakpoint data, 71% had the proximal breakpoint at 18p11.21, and 63% of deletions exceeded 10-Mb. Reverse phenotyping identified candidate intervals for multiple phenotypes: a 1.2-Mb region (chr18:1,852,498_3,039,186, hg19) was linked to white-matter abnormalities and ptosis, and a 5.9-Mb region (chr18:5,416,774_11,286,578, hg19) was associated with white-matter abnormalities, ptosis, and autoimmune susceptibility. and , located within the 5.9 Mb and 1.2 Mb regions respectively, are potential candidate genes for ptosis. in 5.9 Mb region is a potential candidate gene for causing autoimmune disorders. The genitourinary abnormalities presented here constitute a useful addition to the phenotypic spectrum of 18p deletion syndrome. However, their definitive inclusion in the syndrome’s clinical profile requires confirmation by future studies. These data expand the recognized clinical manifestations and refines potential candidate regions associated with key phenotypes, thereby providing a valuable resource for improved genetic counseling and future investigations into potential molecular targets. - Source: PubMed
Publication date: 2026/02/23
Cheng XiaXu LiangWu JiataoZhang LiWei XuetingMin ShengpingLiao Yaping - Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by irreversible cognitive decline and synaptic dysfunction and represents the most prevalent etiology of dementia, accounting for an estimated 60-70% of all clinically diagnosed cases worldwide. The growing focus on microglia-neuron interactions in AD research highlights their diverse, region-specific responses, which are driven by the functional and pathological heterogeneity across different brain regions. Therefore, investigating the interactions between microglia and neurons is of crucial importance. To explore the regional heterogeneity of microglia-neuron crosstalk in AD, we integrated human single-nucleus RNA sequencing data from the prefrontal cortex (PFC), hippocampus (HPC), and occipital lobe (OL) provided by the ssREAD database. Our study delineated four microglial subtypes and uncovered a pseudotime trajectory activation trajectory leading to the disease-associated microglia (DAM) phenotype. The transition along this trajectory is driven and stabilized by a key molecular switch: the coordinated downregulation of inhibitory factors (e.g., LINGO1) and upregulation of immune-effector and antigen-presentation programs, which collectively establish the pro-inflammatory DAM state. Furthermore, we observed that each brain region displayed unique microglia-neuron communication patterns in response to AD pathology. The PFC and OL engage a THY1-ITGAX/ITGB2 signaling axis; the HPC predominantly utilizes the PTPRM pathway. Notably, THY1 dysregulation strongly correlates with pathology in the PFC, HPC, and OL, suggesting that microglia-neuron crosstalk in AD possesses both heterogeneity and commonality. The main contribution of this study is the systematic characterization of region-specific microglia-neuron interactions and the identification of THY1 as a potential mediator that may be targeted therapeutically to modulate microglial function in affected brain regions. - Source: PubMed
Publication date: 2026/02/03
Yang ZhenqiZhang MingzhaoZhi WeijiaMa LizhenHu XiangjunZou YongWang Lifeng - Alcohol use disorder (AUD) leads to cognitive impairment dependent on prefrontal cortex (PFC) dysfunction, yet the underlying cellular and molecular mechanisms, particularly the role of microglia, remain poorly understood. Through re-analysis of single-cell RNA sequencing data from AUD patients, we identified aberrant activation of lipid metabolic pathways in microglia and pinpointed acyl-CoA synthetase long-chain family member 1 (ACSL1) as a central regulator. In animal and cellular models, chronic ethanol exposure induced ACSL1 upregulation, triggering lipid droplet accumulation, neuroinflammatory activation, and aberrant microglia-neuron interactions mediated via PTPRM signaling. Pharmacological inhibition of ACSL1 reversed these pathological phenotypes. We further developed a dual-targeted lipid nanoparticle system for microglia-specific ACSL1 silencing, which effectively ameliorated ethanol-induced cognitive deficits in mice. Our study unveils ACSL1-mediated lipoimmunity reprogramming of microglia as a core mechanism underlying cognitive impairment in AUD and proposes a novel targeted therapeutic strategy. - Source: PubMed
Publication date: 2026/02/05
Hao LiangCao Xing-RuiLi Bai-QiangZhao Fu-YingWang Jia-MeiGao Rui-KangCao Zhi-PengDu Zhen-XianWang Hua-Qin - Barrier mucosal tissues in marine invertebrates coordinate filtration, gas exchange, and frontline innate immunity, yet their cellular organization and division of functions remain poorly resolved. This study generated a tissue-resolved single-cell atlas in a marine invertebrate Crassostrea hongkongensis, defining twenty cell types. The framework revealed a diversified phagocyte lineage composed by five phagocytic cells with three terminal strategies: rapid extracellular containment, deep intracellular clearance, and a resolution program that couples degradation with matrix restoration. We also identified three humoral immune populations with complementary recognition and effector roles that collaborated with phagocytes and epithelial cells. Barrier epithelium supports acted as organizers rather than redundant producers of soluble effectors, and shaped immune activity through defined communication and adhesion programs that coordinated proliferation, survival, and migration. A neural-related compartment comprised of neural progenitor-like, neuron-like, and neuroendocrine cells, and exhibited predominantly sender roles toward epithelial and immune targets consistent with transmitter and peptide-mediated control of ciliary flow, secretory activity, as well as the priming of phagocytic and humoral effectors. Ligand receptor inference highlighted adhesion modules centering on neural cell adhesion molecule (NCAM) and the receptor type protein tyrosine phosphatase (PTPRM) as the key pathways of communication between neural, epithelial, and immune populations. Our finding present a compact taxonomy to map immune programs with precise cellular contexts, and further our understanding of resilience and health in variable coastal environments. - Source: PubMed
Publication date: 2026/01/13
Chen YiWang Wen-Xiong - The objective of this study was to evaluate the effects of dietary supplementation with a composite yeast culture (CYC) on the immune status and splenic gene expression in weaned lambs. Eighteen healthy, male weaned lambs of similar age and body weight were randomly assigned to three groups, including the control group (Con, basal TMR diet), the CYC1 group (TMR supplemented with 40 g/day/lamb of CYC), and CYC2 group (TMR supplemented with 50 g/day/lamb of CYC). The pre-feeding period lasted for 7 days, followed by a 40-day formal experimental period. Upon completion of the experiment, spleens were collected from the three groups of weaned lambs, weighed, and appropriate tissue samples were obtained for histological sectioning, ELISA analysis, RT-qPCR testing, and transcriptome sequencing. Hematoxylin-eosin (H.E.) staining results revealed that the area of splenic corpuscles in the CYC1 and CYC2 groups was significantly greater than that in the Con group (P < 0.05). Enzyme-linked immunosorbent assay (ELISA) analysis indicated that the levels of tuftsin, IgG, and IgM in the splenic tissues of the two experimental groups were significantly elevated compared to those in the Con group (P < 0.05). RT-qPCR results demonstrated that dietary supplementation with CYC1 or CYC2 significantly enhanced the mRNA expression of IL-2, IL-4, and IL-1β in the spleen tissue of weaned lambs (P < 0.05), while simultaneously suppressing the expression of IL-6 and TNF-α (P < 0.05). Transcriptomic analysis revealed that the differentially expressed genes (DEGs) in the splenic tissues of the CYC1 and CYC2 groups were predominantly enriched in pathways related to cell adhesion molecules and oxidative phosphorylation. Furthermore, weighted gene co-expression network analysis (WGCNA) revealed that the MEyellow and MEmagenta modules were significantly correlated with the expression levels of immune-related factors, including tuftsin, IgG, IgM, IL-2, and IL-4. Six potential candidate genes (ICAM1, CDH5, DQA, PTPRM, NDUFB8, and ATP5MC3) associated with these immune-related factors in the spleen were identified from these modules. Functional enrichment analysis indicated that ICAM1, CDH5, DQA, and PTPRM were enriched in the cell adhesion molecules signaling pathway, while NDUFB8 and ATP5MC3 were involved in the oxidative phosphorylation signaling pathway. In conclusion, supplementing the diet with CYC can enhance the histological development of the spleen in weaned lambs, increase the splenic contents of tuftsin, IgG and IgM, up-regulate the mRNA expression of IL-2, IL-4 and IL-1β, and down-regulate that of IL-6 and TNF-α, which may be achieved through cell adhesion molecules and oxidative phosphorylation signaling pathways. This study provides a theoretical foundation for further understanding of the regulatory mechanisms of splenic immune function by composite yeast culture in weaned lambs. - Source: PubMed
Publication date: 2025/12/16
Lu YuBai PengxiangLi SongjianNing JieWu XiaoxuanLuo QifeiYun ZichenChen HuiLiu Dacheng