Ask about this productRelated genes to: FGF12 antibody
- Gene:
- FGF12 NIH gene
- Name:
- fibroblast growth factor 12
- Previous symbol:
- FGF12B
- Synonyms:
- FHF1
- Chromosome:
- 3q28-q29
- Locus Type:
- gene with protein product
- Date approved:
- 1996-10-26
- Date modifiied:
- 2018-02-13
Related products to: FGF12 antibody
Related articles to: FGF12 antibody
- Fibroblast growth factor-12 (FGF12) variants have been associated with developmental and epileptic encephalopathy (DEE) with evidence of modulation of voltage-gated sodium channels Na1.2 and Na1.6. We aim to expand the phenotypic spectrum of FGF12-related epilepsy with emphasis on precision therapy. We describe 12 patients: eight with neonatal onset seizures with the recurrent p.Arg52His (c.155 G > A) variant, two with a previously unreported p.Glu153Gly (c.458 A > G) variant, one with a p.Gly50Ser (c.148 G > A) variant, and one with a de novo whole-gene duplication. Atypical absence seizures were present in 5/12 patients. Brain MRI was normal in 10/12; one patient's MRIs showed progressive cerebellar atrophy, and one patient's MRI showed a hemispheric infarct. 8 patients promptly started on sodium channel blockers became seizure-free with good developmental outcomes while 4 developed DEE. In summary, we expand the phenotypic spectrum of FGF12-related epilepsy and discuss the role of early precision therapy in developmental and epilepsy outcomes. - Source: PubMed
Publication date: 2026/05/25
Arkush LeoKarandasheva KristinaOuellet FrédériqueD'Gama Alissa MRosen Sheidley BethLiang Nicole S YChau VannCostain GregorySmith LaceyAlwis AnoushkaEltze ChristinPoduri AnnapurnaD'Arco FeliceAdams JoshLee KristenSingh JaspalBrown Alexander P YNagendran ArjunaPode-Shakked BenTzadok MichalBen Zeev BruriaMcTague Amy - Desmoplasia, a dense fibrotic reaction, is a hallmark of pancreatic ductal adenocarcinoma (PDAC) and fuels chemoresistance through multiple mechanisms. Here, we evaluated heparanase (HPSE), an endoglycosidase that remodels extracellular matrix (ECM) and drives fibrogenesis, as a potential target in PDAC. Immunohistochemical analysis of human PDAC tissues showed elevated HPSE expression, along with increased levels of fibroblast growth factors 1 and 2 (FGF1/2), reflecting their liberation by HPSE-catalyzed heparan sulfate cleavage. High expression of all three proteins was associated with worse overall and disease-free survival. In vitro coculture assays showed that the HPSE inhibitor PI-88 suppressed PDAC cell-induced activation of pancreatic stellate cells (PSCs) and prevented ECM stiffening without inducing cytotoxicity. Mechanistically, tumor-derived HPSE activated ERK signaling and promoted FGF1/2 production in PSCs, both of which were effectively suppressed by PI-88. In orthotopic mouse models, gemcitabine treatment upregulated HPSE and FGF1/2, whereas gemcitabine-resistant tumors exhibited further increases in these factors, accompanied by enhanced PSC activation and collagen deposition. Importantly, triple therapy with PI-88, gemcitabine, and Abraxane significantly suppressed tumor growth and prolonged survival relative to all mono- and doublet regimens. Immune profiling revealed that this combination reduced PSC activation, contracted M2 macrophage and regulatory T cell populations, and expanded M1 macrophages, CD8⁺ T cells, and NK cells. In conclusion, these data underscore HPSE as a key driver of fibrosis and chemoresistance in PDAC and support HPSE inhibition as a promising strategy to enhance therapeutic efficacy. - Source: PubMed
Publication date: 2026/05/08
Chen Chang-JungWang Hao-ChenHuang Wen-YenChang Stanley Shi-ChungChang AlarngLin Chieh-LiangYang Chih-YaShan Yan-Shen - Developmental and epileptic encephalopathies (DEEs) comprise a clinically and genetically heterogeneous group of severe neurodevelopmental disorders, frequently caused by pathogenic variants in genes encoding neuronal ion channels or synaptic proteins. The fibroblast growth-factor 12 (FGF12) encodes a binding protein for voltage-gated sodium channels. Variants in FGF12 have recently been associated with autosomal dominant DEEs characterized by early-onset epilepsy and neurodevelopmental impairment. We report three patients with a duplication involving exons 1-4 of FGF12 on chromosome 3q28-q29 and systematically review 24 previously published cases of FGF12-related DEE. Clinical features, electroencephalographic findings, neuroimaging data, and responses to anti-seizure medications (ASMs) were analyzed across a total cohort of 27 patients. Eighteen patients carried FGF12 missense variants, including the recurrent pathogenic p.Arg114His variant (n = 14), p.Gly112Ser (n = 2), p.Glu87Lys (n = 1), and one exon 4 missense variant (chr3:g.192335434C>T). Nine patients had copy number duplications involving FGF12. Seizure onset ranged from 1 day to 4 years of age, with 54.1% presenting in the neonatal period. Tonic seizures were the most common seizure type, and 79.1% of patients exhibited moderate to severe intellectual disability. Brain MRI showed mild cerebral and/or cerebellar atrophy in 41.6% of cases. Across reported cases, variable responsiveness to ASMs was observed, with sodium channel blockers including carbamazepine and phenytoin frequently associated with seizure reduction. This study expands the clinical and genetic spectrum of FGF12-related DEE and highlights considerable phenotypic variability across variant types. While treatment responses were heterogeneous, sodium channel blockers were commonly associated with clinical improvement. These findings support cautious consideration of sodium channel targeting therapies in FGF12-DEE and underscore the need for systematic studies to better define genotype treatment relationships. - Source: PubMed
Publication date: 2026/04/29
Aldurayhim FatimahBasit SulmanBashir ShahidHousawi Yousef HussainMir Ali - Gastric cancer (GC) is the fifth most prevalent cancer and the fifth leading cause of cancer-related mortality worldwide. The current gold standard for clinical diagnosis is gastroscopy, which, despite its high sensitivity and specificity, is limited by its invasive nature and high cost, making it unsuitable for large-scale screening. Furthermore, the diagnostic process lacks biomarkers that offer both high sensitivity and specificity. A screening model incorporating five methylation-based biomarkers (ELMO1, FGF12, NPY, SEPTIN9, ZNF671) was developed. Using these methylation profiles, GC risk prediction models were constructed employing Random Forest. - Source: PubMed
Publication date: 2026/04/25
Long FengyingXu YiWu KangFu XiaoyuGao TangjieLuo ShiyaDai LizhongChen Xiao-Ping - Myxofibrosarcoma (MFS) is a rare soft-tissue sarcoma with limited systemic therapy options, necessitating preclinical platforms that better simulate clinical drug responses. We investigated how 2D monolayers versus 3D spheroids shape the baseline transcriptome and doxorubicin (DOX)-responsive programs across six patient-derived MFS cell lines. RNA sequencing revealed that 3D culture induces a distinct transcriptomic state characterized by the enrichment of microenvironment-associated stress programs, such as hypoxia, inflammatory/NF-κB signaling, and glycolysis, alongside the suppression of proliferation-related pathways. Although the global DOX-induced transcriptional response was highly environment-dependent, we identified a robust core of six regulators-MCRIP1, FGF12, HGF, EMSY, FZD2, and SECISBP2-whose transcriptional changes consistently correlated with cell survival rates across both 2D and 3D geometries. These genes are involved in transcriptional plasticity, redox homeostasis, and bypass survival signaling, providing a mechanistic basis for DOX resistance that transcends culture conditions. Our findings demonstrate that while culture geometry is a critical determinant of the MFS transcriptome, a robust set of environment-agnostic regulators dictates DOX efficacy. Integrating 3D systems with these specific transcriptomic readouts enhances the interpretability of drug screenings and supports the prioritization of rational therapeutic combinations for this rare sarcoma. - Source: PubMed
Publication date: 2026/04/21
Yoshimatsu YukiShiota YomogiKondo Tadashi