Ask about this productRelated genes to: FGFR1 antibody
- Gene:
- FGFR1 NIH gene
- Name:
- fibroblast growth factor receptor 1
- Previous symbol:
- FLT2, KAL2
- Synonyms:
- H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331
- Chromosome:
- 8p11.23
- Locus Type:
- gene with protein product
- Date approved:
- 1992-02-25
- Date modifiied:
- 2019-04-23
Related products to: FGFR1 antibody
Related articles to: FGFR1 antibody
- Disease-modifying therapies have significantly influenced the clinical course of spinal muscular atrophy (SMA), yet objective biomarkers for monitoring disease progression and treatment remain limited. We profiled four muscle-specific miRNAs (myomiRs), ten bioinformatically predicted mRNA targets, two functionally associated lncRNAs, and SMN transcripts in whole blood from 50 adults with SMA types II-IV. Using RT-qPCR, we assessed associations between baseline RNA expression and demographic and clinical parameters, including SMA type, ambulatory status, motor and respiratory function, and explored longitudinal changes during nusinersen (24 months) and risdiplam (6/12 months) treatment. At baseline, miR-206 was higher in type III than in type II and in ambulatory compared to non-ambulatory patients, while it correlated positively with motor and respiratory function and with SMN mRNA variants (total, FL, and ∆7). SMN transcript levels were higher in patients with more SMN2 copies and in ambulatory patients and showed positive correlations with motor and respiratory function. miR-133a-3p and miR-133b correlated negatively with upper limb and respiratory function, and sex-related differences were observed for miR-133a-3p, FGFR1, ANXA2, and LINCMD1. During nusinersen treatment, we observed a decrease in miR-206, LINCMD1, and lnc-GJA1-2, alongside modest reductions in SMN-∆7 and total SMN. In contrast, risdiplam induced a peripheral splicing shift: SMN-FL and the FL/∆7 ratio increased, while SMN-∆7 decreased; miR-133a-3p also decreased at 6 months. By integrating muscle-derived RNAs, particularly miR-206, with blood SMN2 splicing changes, we propose a composite, blood-based biomarker approach for assessing SMA status and treatment-associated molecular changes and highlight myomiR-lncRNA-mRNA networks that suggest disease-relevant mechanisms. - Source: PubMed
Publication date: 2026/04/30
Barbo MarušaKoritnik BlažLeonardis LeaDolžan VitaRavnik-Glavač Metka - The ClinGen Craniofacial Malformations Gene Curation Expert Panel (Cranio GCEP) was formed in 2020 with an initial target of evaluating genes implicated in craniosynostosis and skull abnormalities. This work summarizes the findings of the Cranio GCEP during its first round of curation, aiming to provide expert guidance for clinical validity of gene-disease relationships in the context of craniofacial malformations. - Source: PubMed
Publication date: 2026/04/29
Edoh EnyonamMighton ChloeBroeren EleanorGitau VanessaRatliff JulieDiStefano MarinaGadalla SandraGirod AmandaHughes MadelineMcCurry HannahPatel MayherWilcox Emma HMohammadi MoosaPaschal CateSpector ElaineWilkie Andrew O MZackai ElaineZarate Yuri AGraham John MJabs Ethylin WangSanchez-Lara Pedro A - A wide spectrum of genomic events leading to dysregulated fibroblast growth factor receptor (FGFR) signaling have been reported across low-grade and high-grade glial/glioneuronal tumors. These events include structural alterations, such as gene fusions and duplications, as well as recurrent mutations in . Several FGFR-selective tyrosine kinase inhibitors (TKIs) have received regulatory approval for clinical use, and newer isoform-specific FGFR inhibitors are under investigation. Among pediatric patients with -altered low-grade gliomas (LGGs) enrolled in clinical trials with FGFR inhibitors, promising clinical efficacy regardless of alteration type (fusion or mutation) has been observed in a subset. In contrast, limited responses have been reported in adults with fused IDH-wild-type glioblastoma. FGFR inhibitor toxicities include hyperphosphatemia, diarrhea, skin, nail, and ocular toxicity. Importantly, in skeletally immature patients, bone toxicities, such as accelerated growth spurts, limb fractures, and scoliosis, have been reported and require close monitoring. Co-occurring genomic alterations in MAPK pathway signaling components downstream of FGFR may drive intrinsic and acquired resistance to FGFR inhibitors. Further preclinical studies in relevant models of FGFR-altered pediatric gliomas are needed to help inform the development of novel, more effective and less toxic treatment strategies, as well as the rational design of clinical trials. - Source: PubMed
Publication date: 2025/12/02
Sait Sameer FaroukBale TejusKarajannis Matthias A - Renal fibrosis is the common pathological pathway for all chronic kidney diseases (CKD) progressing to end-stage renal failure, yet no current therapies can directly halt or reverse this process. Yes-associated protein 1 (YAP1), a core effector of the Hippo pathway, is an established driver of fibrosis, yet it presents a formidable challenge for direct pharmacological inhibition due to its structural and functional properties. This study aims to investigate the role of fibroblast growth factor receptor 1 (FGFR1) as an upstream regulator of YAP1 in renal fibrosis and to evaluate the therapeutic potential of targeting this signaling axis. We analyzed human fibrotic kidney samples, a unilateral ureteral obstruction (UUO) mouse model, and in vitro human umbilical vein endothelial cells (HUVECs), combined with genetic, pharmacological, and biochemical techniques, including endothelial-specific gene knockout, inhibitor assays, immunofluorescence, Western blot, and quantitative real-time PCR (qPCR). We found that FGFR1 and YAP1 were coordinately upregulated in the endothelial cells of fibrotic kidneys. Mechanistically, transforming growth factor-β (TGF-β) activated the FGFR1-ERK-YAP1 signaling cascade, which drove endothelial-to-mesenchymal transition (EndMT), inflammatory responses, and endothelial dysfunction. In vitro, both pharmacological inhibition of FGFR1 with PD173074 and genetic knockdown of FGFR1 or YAP1 effectively blocked this pro-fibrotic cascade. Consistent with in vitro findings, in the UUO mouse model, endothelial-specific deletion of YAP1 or administration of PD173074 significantly attenuated renal fibrosis, inflammatory responses, and vascular dysfunction, while preserving renal function. In addition, the pro-fibrotic function of this axis was further validated in a diabetic kidney disease mouse model. In conclusion, this study identifies the endothelial FGFR1/YAP1 axis as one of the important pro-fibrotic drivers in renal fibrosis progression and proposes an innovative therapeutic concept: indirectly modulating the "undruggable" transcriptional co-activator YAP1 by targeting its upstream, pharmacologically tractable receptor FGFR1. This strategy provides a novel interventional approach and potential target for anti-fibrotic intervention in CKD. - Source: PubMed
Publication date: 2026/04/13
Jiang XinRen YafengYan MengliLi MingjingCao HuixiaShao Fengmin - Limited targeted agents are approved for pediatric sarcomas. Tyrosine kinase (TK) inhibitors (TKi) have shown clinical efficacy in some, but not all, young patients with sarcoma. A major obstacle preventing further advances and clinical implementation is the lack of predictive response biomarkers to guide TK-targeted treatments. TK-activating fusions or mutations are rare in these patients. RNA overexpression of TKs is a frequent feature. The unresolved question is when upregulated TK expression is associated with kinase activation and signaling dependence. We explored the TK molecular landscape of 107 patients with sarcoma from the ZERO Childhood Cancer Precision Medicine Program (ZERO) using whole-genome and -transcriptome sequencing. Phosphoproteomic analyses of tyrosine phosphorylation (pY) and functional in vitro and in vivo assays were performed in cell lines and patient-derived xenografts (PDX). Our analysis shows that although novel genomic driver lesions are rare, when present they are therapeutically actionable as exemplified by a novel LSM1-FGFR1 fusion identified in a patient with osteosarcoma. We further show that in certain contexts, TK RNA expression can indicate TK pathway activity and predict TKi sensitivity. We highlight the utility of FGFR inhibitors in PAX3-FOXO1 fusion-positive rhabdomyosarcomas (FP-RMS) characterized by high FGFR4 and FGF8 RNA expression levels and FGFR4 activation (FGFR4_pY). We demonstrate marked tumor growth inhibition in all FP-RMS PDXs treated with single-agent FGF401 (FGFR4-specific inhibitor) and single-agent lenvatinib (multikinase FGFR inhibitor) and report a clinical response to lenvatinib in a patient with relapsed metastatic FP-RMS. Altogether, we identified new patients with sarcoma who may benefit from FGFR inhibitors, most notably FP-RMS via FGFR4/FGF8 coexpression. - Source: PubMed
Publication date: 2026/04/27
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