Ask about this productRelated genes to: PGM1 Blocking Peptide
- Gene:
- PGM1 NIH gene
- Name:
- phosphoglucomutase 1
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 1p31.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2016-10-05
Related products to: PGM1 Blocking Peptide
Related articles to: PGM1 Blocking Peptide
- To investigate the clinicopathological features, diagnosis, and prognosis of Erdheim-Chester disease. The clinical and imaging data of 16 patients with Erdheim-Chester disease diagnosed in the Department of Pathology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China from August 2002 to July 2025 were retrospectively analyzed. A comprehensive evaluation was conducted on histopathology, immunophenotype, molecular characteristics, clinical treatment and follow-up outcomes, supplemented by a review of relevant literature. There were 16 patients with Erdheim-Chester disease, including 7 males and 9 females. The age at onset ranged from 38 to 70 years, with an average age of 48.0 (43.5, 54.5) years. Two of the 16 cases were complicated by Langerhans cell histiocytosis. Isolated skeletal involvement was observed in 5 cases (most commonly affecting the long bones of the lower extremities), while skeletal involvement with extra-skeletal systemic manifestations (including pulmonary, pituitary, urinary system, pericardial, and aortic involvements) was identified in 11 cases. The characteristic imaging presentation consisted of bilateral symmetric, multifocal diffuse osteosclerosis predominantly involving the diaphyses and metaphyses of long bones. Bone scintigraphy revealed symmetrically increased radiotracer uptake. Magnetic resonance imaging showed hypointense signals on T1-weighted images and heterogeneously hyperintense signals on T2-weighted images, with significant enhancement observed after contrast administration. Histopathological examination revealed osteosclerosis accompanied by infiltration of abundant lipid-laden foamy histiocytes or small mononuclear histiocytes within the intertrabecular spaces. These cells exhibited uniformly eosinophilic, pale pink-stained cytoplasm and round to oval nuclei with inconspicuous nucleoli. The lesion was also characterized by variable numbers of Touton giant cells and varying degree of fibrosis. Immunohistochemical analyses demonstrated the expression of CD68, CD163, and PGM1, but no expression of S-100 or Langerin. BRAF V600E gene mutation was detected in five cases. Clinical management regimens encompassed curettage of intraosseous lesions, potentially combined with adjuvant therapies such as hormonal agents, chemotherapy, interferon-alpha, or BRAF V600E inhibitors. At the end of follow-up (ranging from 2 to 18 years), seven patients died of the disease, six survived with it, and three remained disease-free. Erdheim-Chester disease is a rare condition characterized predominantly by multifocal and symmetrical involvement of long bones, with the majority of patients presenting with systemic manifestations. Pathological examination combined with imaging studies aids in distinguishing it from inflammatory disorders and other histiocytic proliferative lesions. The overall prognosis is poor, especially in cases involving multiple bones and systemic involvement. - Source: PubMed
Zhang LZhang H ZLuo Y LHuang J - A 49-year-old man presented with a 1-year history of red facial nodules and a 3-month history of left-sided hearing decline. A biopsy revealed mixed inflammation and emperipolesis of histiocyte-like cells. An immunohistochemical analysis demonstrated that the histiocyte-like cells were positive for S100 and CD68 and negative for CD1a and CD207, confirming the diagnosis of cutaneous Rosai-Dorfman disease (CRDD). The initial treatment consisted of oral prednisone acetate combined with methotrexate. Due to limited efficacy and adverse effects, methotrexate was discontinued, and prednisone acetate monotherapy was used. After 2 months, the patient's skin lesions gradually resolved, and hearing improved. This case demonstrates that CRDD involving the ear can lead to hearing recovery following systemic corticosteroid therapy. - Source: PubMed
Publication date: 2026/04/21
Zhuo XiaoxueDangzeng ZhuomaZhou PeiyuWang TingtingWang Lin - All oligodendrogliomas have a characteristic 1p/19q co-deletion that alters the expression of hundreds of genes on both affected chromosomal arms. The search for genes on 1p and 19q that drive oligodendroglioma development has only made little progress over the last years. Therefore, a computational network-based approach for the analysis of single-cell oligodendroglioma transcriptomes is developed to predict potential driver gene candidates within the region of the 1p/19q co-deletion purely based on tumor cells. Nine genes with strong impact on signaling pathways (, , , , , , , , and ) and 6 partially overlapping genes with strong impact on immune pathways (, , , , , and ) were consistently predicted in at least 2 of the 3 analyzed oligodendrogliomas. Almost all of these genes are known to play important roles in growth, proliferation, and stem cells of closely related gliomas, but also roles in migration or reprogramming of the microenvironment had been reported in experimental glioma studies. Comparisons to a previous network-based bulk oligodendroglioma analysis and additional evaluations of the expression behavior of candidate genes in related normal brain cells further strengthen the study. Additional validations based on 2 independent oligodendrogliomas support the candidate genes. Robustness of the predictions is shown for imputed and nonimputed data. Strengths of the network-based approach are demonstrated by comparisons to related approaches. All findings clearly suggest that the developed network-based approach for the analysis of single-cell tumor transcriptomes is able to predict novel potential driver gene candidates for oligodendrogliomas. These are very valuable information for future experimental studies. The computational network-based approach can also be transferred to the analysis of single-cell transcriptomes of other types of cancer. - Source: PubMed
Publication date: 2026/05/04
Seifert Michael - The twospot puffer (Takifugu bimaculatus) is a species of significant aquacultural value in East Asia, yet its production is constrained by slow growth rates and suboptimal body morphology. To advance genetic enhancement via marker-assisted selection, we conducted a genome-wide association study (GWAS) focusing on traits related to body shape. Utilizing a full-sib family comprising 167 individuals to reduce genetic variability, we employed whole-genome resequencing to identify 122,553 high-quality (SNPs) for association analysis. Our study identified 17 significant and suggestive SNP loci correlated with torso length (TL), body depth (BD), body width (BWI), head length (HL) and tail length (TAL). Functional annotation of surrounding genomic regions revealed 26 candidate genes associated with these traits, including lrp8, kank4 for TL; tfrc, dab1 for BD; pgm1, cp, rala, and cdh7 for BWI; gli3, sox17a, and zip12 for HL; myl9, smurf2 for TAL. These genes were implicated in skeletal development, cell migration, metabolism, and BMP/TGF-β signaling pathways. Our findings offered the first genetic insights into body shape in T. bimaculatus and provided valuable SNP markers for future genetic mapping of body shape related traits in multi-line famlies and marker-assisted selection breeding programs. - Source: PubMed
Publication date: 2026/04/01
Zhao HongbinWang LingzheChang YanwenLiang ShuangLiang JianLiu HuiruSong AnranLi LeibinGuo YongjunZhou Zhixiong - Phosphoglucomutase 1 (PGM1) is a type 1 diabetes susceptibility gene that potentially plays a key role in regulating central carbon metabolism in β-cells. Previous work suggested that β-cell PGM1 transcription is lowered after coxsackievirus B4 infection. Thus, we hypothesized that decreased PGM1 levels disrupt β-cell metabolic homeostasis and result in β-cell fragility and type 1 diabetes. First, we showed that the synthetic double-stranded RNA polyinosinic:polycytidylic acid, or Poly(I:C) attenuated PGM1 transcription both in human islets and EndoC-βH1 cell line. At 5.5 mmol/L glucose, PGM1 deficiency enhanced the rate of glycolysis, tricarboxylic acid cycle, hexosamine, and pentose phosphate pathway. However, at 20 mmol/L glucose, PGM1-deficient cells showed impaired mitochondrial respiration. Moreover, truncated N-glycans were enriched in PGM1-deficient cells, suggesting aberrant protein glycosylation. Autophagic flux, which was dependent on the lysosomal glycosylated protein function, was impaired in PGM1-deficient cells. Increased endoplasmic reticulum stress was evident in PGM1-deficient cells. Our results suggest that PGM1 is a metabolic regulator of pancreatic β-cells. Its deficiency leads to metabolic imbalance and cellular stress, potentially augmenting type 1 diabetes development. - Source: PubMed
Ye JodyQiu YunpingAguilan Jennifer TSun YanKulkarni RuchaJankauskas Stanislovas SSantulli GaetanoSidoli SimoneKurland Irwin JTomer Yaron