Ask about this productRelated genes to: GLMN Blocking Peptide
- Gene:
- GLMN NIH gene
- Name:
- glomulin, FKBP associated protein
- Previous symbol:
- VMGLOM
- Synonyms:
- FAP48, GLML, GVM, FKBPAP
- Chromosome:
- 1p22.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-07-14
- Date modifiied:
- 2014-11-19
Related products to: GLMN Blocking Peptide
Related articles to: GLMN Blocking Peptide
- Glomus tumors, rare neoplasms showing differentiation resembling the glomus body associated with the skin, present significant diagnostic challenges due to their rarity and potential for misdiagnosis. This study reports on a 26-year-old woman whose imaging initially suggested renal cell carcinoma; however, histopathological analysis of the partial nephrectomy identified the mass as a glomangioma. Alongside this report, we provide a comprehensive review of the literature, emphasizing the importance of histopathological examination in differentiating these tumors. The unique hereditary findings of this report contribute to the limited, but crucial understanding of renal glomus tumors, highlighting the need for awareness and careful evaluation of renal masses, particularly due to their nonspecific imaging features. - Source: PubMed
Publication date: 2025/12/26
Alroaini HananHussain BannaAlruwaii Fatimah IGupta NileshRogers Craig GAl-Obaidy Khaleel I - Idiopathic pulmonary arterial hypertension is a rare disorder, often linked to genetic predisposition. Canonical pulmonary arterial hypertension genes such as BMPR2, KCNK3, and TBX4 are well described, but novel associations continue to emerge. Glomulin (GLMN) encodes a protein essential for vascular smooth-muscle biology, classically implicated in glomuvenous malformations, yet not previously associated with pulmonary arterial hypertension. We present a 49-year-old woman with progressive dyspnea, edema, and persistent hypercapnic respiratory failure. Right-heart catheterization confirmed precapillary pulmonary hypertension. Comprehensive evaluation, including ventilation/perfusion scanning, autoimmune panel, polysomnography, and high-resolution computed tomography, excluded secondary causes. Respiratory assessment revealed diaphragmatic weakness and reduced respiratory muscle pressures, consistent with primary myopathy and explaining the unusual hypercapnic profile. Whole-genome sequencing identified a heterozygous pathogenic GLMN nonsense variant, while canonical pulmonary arterial hypertension genes were negative. No cutaneous or mucosal glomuvenous malformations were found. The patient was treated with oxygen therapy, diuretics, non-invasive ventilation, and dual oral pulmonary arterial hypertension therapy (ambrisentan and tadalafil), with stabilization but persistent hypercapnia. To our knowledge, this is the first reported co-occurrence of idiopathic pulmonary arterial hypertension and a pathogenic GLMN variant. While causality cannot be inferred, glomulin's role in vascular smooth-muscle maturation provides a plausible link to pulmonary vascular remodeling. This case underscores the importance of assessing respiratory muscle function in idiopathic pulmonary arterial hypertension patients with hypercapnia and highlights the potential relevance of extended genetic testing in rare pulmonary vascular disease. - Source: PubMed
Publication date: 2025/10/20
Dimeas Ilias EDimeas George EZakynthinos George EMcCarthy CormacDaniil ZoeXiromerisiou Georgia - Cervical cancer remains a major global health concern, with high recurrence rates in advanced stages. [F]FDG PET/CT provides prognostic biomarkers such as SUV, MTV, and TLG, though these are not routinely integrated into clinical protocols. Radiomics offers quantitative analysis of tumor heterogeneity, supporting risk stratification. To evaluate the prognostic value of clinical and radiomic features for disease-free survival (DFS) in locoregionally advanced cervical cancer using machine learning (ML). Sixty-three patients (mean age 47.9 ± 14.5 years) were diagnosed between 2015 and 2020. Radiomic features were extracted from pre-treatment PET/CT (IBSI-compliant PyRadiomics). Clinical variables included age, T-stage, Dmax, lymph node involvement, SUVmax, and TMTV. Forty-two models were built by combining six feature-selection techniques (UCI, MD, MI, VH, VH.VIMP, IBMA) with seven ML algorithms (CoxPH, CB, GLMN, GLMB, RSF, ST, EV) using nested 3-fold cross-validation with bootstrap resampling. External validation was performed on 95 patients (mean age 50.6 years, FIGO IIB-IIIB) from an independent cohort with different preprocessing protocols. Recurrence occurred in 31.7% ( = 20). SUVmax of lymph nodes, lymph node involvement, and TMTV were the most predictive individual features (C-index ≤ 0.77). The highest performance was achieved by UCI + EV/GLMB on combined clinical + radiomic features (C-index = 0.80, < 0.05). For single feature sets, IBMA + RSF performed best for clinical (C-index = 0.72), and VH.VIMP + GLMN for radiomics (C-index = 0.71). External validation confirmed moderate generalizability (best C-index = 0.64). UCI-based feature selection with GLMB or EV yielded the best predictive accuracy, while VH.VIMP + GLMN offered superior external generalizability for radiomics-only models. These findings support the feasibility of integrating radiomics and ML for individualized DFS risk stratification in cervical cancer. - Source: PubMed
Publication date: 2025/10/02
Yousefirizi FereshtehHajianfar GhasemSabouri MaziarHolloway CarolineTonseth PeteAlexander AbrahamYusufaly Tahir IMell Loren KHarsini SaraBénard FrançoisZaidi HabibUribe CarlosRahmim Arman - Excessive stress disrupts cardiac homeostasis via complex and multifactorial mechanisms, resulting in cardiac dysfunction, cardiovascular disease, or even sudden cardiac death, yet the underlying molecular mechanisms remain poorly understood. Accordingly, we aimed to elucidate how stress induces calcium dysregulation and contributes to cardiac dysfunction and injury through the nuclear receptor subfamily 3 group c member 1 (NR3C1)/Glomulin (GLMN)/FK506-binding protein 12.6 (FKBP12.6) signaling pathway. Using mouse models of acute and chronic restraint stress, we observed that stress-exposed mice exhibited reduced left ventricular ejection fraction, ventricular wall thickening, elevated serum and myocardial cTnI levels, along with pathological features of myocardial ischemia and hypoxia, through morphological, functional, and hormonal assessments. Using transmission electron microscopy and Western blotting, we found that stress disrupted mitochondrial quality control in cardiomyocytes, evidenced by progressive mitochondrial swelling, cristae rupture, decreased expression of fusion proteins (MFN1/OPA1) and biogenesis regulator PGC-1α, along with aberrant accumulation of fission protein (FIS1) and autophagy marker LC3. At the cellular level, ChIP-qPCR and siRNA knockdown confirmed that stress activates the glucocorticoid receptor NR3C1 to repress its downstream target GLMN, thereby preventing FKBP12.6 ubiquitination and degradation, resulting in calcium leakage and overload, which ultimately impairs mitochondrial quality control and damages cardiomyocytes. In conclusion, our findings reveal that stress induces myocardial damage through NR3C1/GLMN-mediated FKBP12.6 ubiquitination, disrupting calcium homeostasis and mitochondrial quality control, and lay a theoretical foundation for dissecting the intricate molecular network of stress-induced cardiomyopathy. - Source: PubMed
Publication date: 2025/08/25
Cong JingzeLiu LihuiShi RuiHe MengtingAn YuchuanFeng XiaoweiYin XiaoyuLi YingminCong BinShi Weibo - - Source: PubMed
Publication date: 2025/08/05
Chen Helen ZZuberi HafsaBeasley JulieStetson Cloyce LPaulger Brent