Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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fibroblast growth factor receptor 1(FGFR1) fibroblast growth factor receptor 1(FGFR1) Related Genes Homo sapiens
CHROMOSOME 8,
CYTOBAND 8p11.2-p11.1,
ENSEMBL_GENE_ID ENSG00000077782,
GENERIF_SUMMARY vitronectin increased the presence of all four growth factor receptors and most notably, VEGFR-1; in contrast, fibrin decreased all four receptors, especially FGFR-1 and FGFR-2, In the fusion of the FGFR1 and BCR genes in myeloproliferative disorder, it is likely that the dimerization properties of BCR lead to aberrant FGFR1 signaling and neoplastic transformation., distribution in normal endocrine cells and related tumors of the gastroenteropancreatic system; immunoreactive in rare duodenal endocrine cells and in pancreatic A cells, REVIEW; The 8p11 myeloproliferative syndrome is a distinct clinical entity caused by constitutive activation of FGFR1., overexpressed in acute myeloid luekemia while translocations associated with this gene are absent, and more frequently in patients with CD56 immunophenoytpe, Inhibiting expression of bFGF or FGFR-1 in only the melanoma cells is as effective in blocking tumor growth as simultaneously inhibiting bFGF or FGFR-1 synthesis in the melanoma cells and the melanoma cell-interspersing vasculature., CD56 molecules on NK cells interact with fibroblast growth factor receptor 1 on Jurkat T cells to trigger IL-2 production., Review of FGFR1 isoforms and structure-activity analysis [review], Differences in spatial patterns of FGFR expression in normal skin may generate functional diversity in response to FGFs, and in wounded skin FGFs may function in wound healing via induced FGFRs., Our results suggest an autocrine role of the FGF-FGFR-1 system in the pathogenesis of COPD-associated vascular remodeling., Fibroblast growth factor receptor-1 is expressed by endothelial progenitor cells., Recombinant FGFR1 was expressed on the surface of Sf9 insect cells. The peptide ValTyrMetSerProPhe can specifically bind to the hydrophobic surface of FGFR1., alternatively spliced FGFR-1 isoforms induce differential signal transduction pathways, ZNF198/fibroblast growth factor receptor-1 has signaling function comparable with interleukin-6 cytokine receptors., FGFR1 tyrosine phosphorylation is inhibited by sef protein, cAMP-induced nuclear accumulation of FGFR1 provides a signal that triggers molecular events leading to neuronal differentiation of neuronal progenitor cells, FGFR1 has a role in autosomal dominant Kallmann syndrome, expression system is involved in angiogenesis in inflamed synovial tissue in the temporomandibular joint, TSH stimulates FGFR1 but not FGF-2 expression and PKC activation stimulates FGF-2 synthesis and secretion, and TSH synergizes with PKC activators so increases in FGFR1 or FGF-2 or in both may contribute to goitrogenesis., Results describe a direct interaction between neural cell adhesion molecule (fibronectin type III [F3] modules 1 and 2) and fibroblast growth factor receptor R1 (Ig modules 2 and 3) by surface plasmon resonance analysis., HFGFR1 was expressed primarily in the ventricular zone embryologically, Tyrosine 463 is phosphorylated and able to transduce signals in response to FGF-2 treatment alone. Furthermore, FGFR-1 dimerization/kinase activation is stabilized by heparin., involvement of a nuclear matrix bound FGFR1 in transcriptional and RNA processing events in the cell nucleus, Here we show that the TCR and fibroblast growth factor receptors co-localize during combined stimulation [which] synergistically enhances the activation of nuclear factors of activated T cells., two novel intragenic FGFR1 mutations in two sporadic male cases in Kallmann syndrome, The weak binding affinity of the fibroblast growth factor receptor (FGFR) 1 interaction with heparin suggests that in this model, FGFR and heparan sulfate proteoglycan are unbound in the absence of FGF ligand on the cell surface., Results suggest that active fibroblast growth factor receptor 1 kinase regulates the functions of nuclear 90-kDa ribosomal S6 kinase., Although FGFR-1 dimerization achieved by fgfr-2 injection led to highly differentiated and smaller bladder tumors, no sign of reduction of tumor angiogenesis was observed, thus suggesting that endothelial cells are resistant to FGF., fibrinogen binding of FGF-2 enhances EC proliferation through the coordinated effects of colocalized alpha(v)beta(3) and FGFR1, insulin receptor substrate-4 and ShcA have roles in signaling by the fibroblast growth factor receptor, conjoint endocytosis and trafficking is a novel mechanism for the coregulation of E-cadherin and FGFR1 during cell signaling and morphogenesis, The reciprocal relationship in gene expression between FGFR1 and FGFR3 in colorectal tissue plays an important role in the progression of the carcinomas to malignancy., Recruitment of SRC to FRS2 leads to activation of signal attenuation pathways., the reversal of hypogonadotropic hypogonadism in a proband carrying an FGFR1 mutation suggests a role of FGFR1 beyond embryonic GnRH neuron migration, and a loss of function mutation in the FGFR1 gene causing delayed puberty., In 'undifferentiated' neurospheres of embryonic brain and spinal cord, transcripts from FGFR1 and FGFR2 were consistently detected., Fibroblast growth factor trophic signaling to differentiated neurons could involve the release of astrocytic basic FGF acting on neuronal FGFR1 expression., FGFR-1 is expressed in early hematopoietic/endothelial precursor cells, as well as in a subpool of endothelial cells in tumor vessels, and that it is critical for hematopoietic but not for vascular development, When used individually, FGFR1 partially prevented goiter and sVEGFR1 partially reduced vascular volume., The interaction of FGFR1 with CREB binding protein allows activation of gene transcription and may play a role in cell differentiation., involvement of a nuclear matrix bound FGFR1 in transcriptional and RNA processing events in the cell nucleus, Data indicate that after endocytosis, fibroblast growth factor receptor (FGFR)4 and its bound ligand, FGF1, are sorted mainly to the recycling compartment, whereas FGFR1-3 with ligand are sorted mainly to degradation in the lysosomes., Two somatic mutations in kinase domain found in glioblastomas (N546K, R576W)., Stimulation of FGFR-1 results in a Ca2+ channel-independent change of gene expression in retinal pigment epithelial cells., data describe percentage of bone marrow cells expressing receptors for interleukin-1, platelet-derived growth factor, fibroblast growth factor, transforming growth factor-beta, epidermal growth factor and c-Fos and c-Myc in untreated lung & breast cancer, the initial stimulus for renal inflammation, whether immune complex, hypersensitivity or rejection, did not alter expression patterns of FGF-1 or its receptor, FGF-receptor-mediated mitogen-activated protein kinase stimulation is potentiated in cells costimulated with ephrin-A1, up-regulation of the secreted FGF-BP1 protein during initiation of pancreas and colon neoplasia could make this protein a possible serum marker indicating the presence of high-risk premalignant lesions, The activation of FGF-2/FGFR1beta supports progression and chemoresistance in subsets of AML. Therefore, FGFR1 targeting may be of therapeutic benefit in subsets of AML., Mutations leading to FGFR1 loss-of-function were found., These results suggest that constitutive levels of both FGFR1 and FGFR3, but not FGFR4 are essential for FGF-stimulated anchorage-independent growth of SW-13 cells., Paediatric phenotypic expression of FGFR1 loss of function mutations is highly variable, the severity of the oro-facial malformations at birth does not predict gonadotropic function at the puberty., Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes., Analysis of FGFR1 protein revealed that a high FGFR1 gene expression is a distinct molecular feature of early OSCC indicating a participation in initial oral carcinogenesis., analysis of heparan sulfate-related oligosaccharide binding to fibroblast growth factors 1 and 2 and their receptors, Data suggest that the relative concentrations of Anosmin-1 and FGF-2 modulate the migration of oligodendrocyte precursors during development through their interaction with FGFR1., Immunohistochemical expression of FGFR1 in tumors was confirmed by real-time polymerase chain reaction., FGFR1 signaling contributes to the survival of MDA-MB-134 cells., Identification of 15 new FGFR1 sequence variants in 17 patients with Kallman Syndrome., PP2A binding to Sprouty2 and phosphorylation changes are a prerequisite for ERK inhibition downstream of FGFR stimulation, Data suggest that preferential premolar agenesis is associated with FGFR and IRF6., FGF3, FGF7, FGF10, FGF18, and FGFR1 may have roles in nonsyndromic cleft lip and palate, results of analysis of the genome-wide scan data was a 20 cM region at 8p11-23 in which markers had LODs > or =1.0. Linkage and association analyses of these SNPs yield suggestive results for markers in FGFR1 and BAG4., ZNF198-FGFR1 activated both the AKT and mitogen activated protein kinase (MAPK) prosurvival signaling pathways, resulting in elevated phosphorylation of the AKT target FOXO3a at T32 and BAD at S112, respectively., FGFR1 has a role in preventing progression of breast neoplasms, no evidence that mosaicism for mutations, normally associated with syndromal forms of craniosynostosis, occur in single suture craniosynostosis, FGF receptor 1 (FGFR1), which is expressed mainly in neoplastic thyroid cells, propagates MAPK activation and promotes tumor progression. In contrast, FGFR2 is down-regulated in neoplastic thyroid cells through DNA promoter methylation., analysis of EGFR, HER2 and HER3 expression in esophageal primary tumours and corresponding metastases, data suggest an important role for FGFR1 and FGFR1-downstream genes in rhabdomyosarcoma (RMS) tumorigenesis and a possible association with the deregulation of proliferation and differentiation of skeletal myoblasts in RMS, FGF and FGFR may have a role in cleft lip and cleft palate, Current evidence supports a heparan sulphate -dependent interaction between anosmin-1 and FGFR1, where anosmin-1 serves as a co-ligand activator enhancing the signal activity. (Review), the involvement of FGFR-1 through FGF2 in eliciting PGE(2) angiogenic responses, Molecular analyses in salivary gland tumors revealed that ring formation consistently generated novel FGFR1-PLAG1 gene fusions in which the 5'-part of FGFR1 is linked to the coding sequence of PLAG1, KAL1 mutations result in a more severe reproductive phenotype than FGFR1/KAL2 mutations., Basic fibroblast growth factor-induced neuronal differentiation of mouse bone marrow stromal cells requires FGFR-1, MAPK/ERK, and transcription factor AP-1, No sequence variation was found, indicating that mutations in the "hot spot" exons are not associated with nonsynostotic plagiocephaly., In human uterine leiomyomas, FGFR1 were also overexpressed., p38alpha MAPK has a critical role in the regulated translocation of exogenous FGF1 into the cytosol/nucleus, 12% of Kallman syndrome males have KAL1 deletions, but intragenic deletions of the FGFR1, GNRH1, GNRHR, GPR54 and NELF genes are uncommon in Idiopathic hypogonadotropic hypogonadism/Kallman syndrome., Identification of two previously unreported SNPs in FGFR1 and FABP3 associated with BMD and a third SNP in TIMP2 related to risk for non-vertebral osteoporotic fractures., fibroblast growth factor receptor 1 ubiquitination is required for its intracellular sorting but not for its endocytosis, BRCA2-associated cancers were characterized by the higher relative expression of FGF1 and FGFR2, FGFR1-IIIb and FGFR1-IIIc are coexpressed, and the FGFR1-III isoforms are differentially regulated by growth factors and cyclin D1., the FGF binding domain and the heparin binding domain are necessary for the hBP3 interaction with endogenous FGF and the activation of FGFR signaling in vivo, Temporal-mediatd FGFR1 indepepndence, no mutations found in Kallmann syndrome, These results indicate that EphA4 plays an important role in malignant phenotypes of glioblastoma by enhancing cell proliferation and migration through accelerating a canonical FGFR signaling pathway., bFGF, FGFR1, and FGFR2 are frequently overexpressed in squamous cell carcinoma and adenocarcinoma of the lung and may have a role in neoplasm pathogenesis, Fibroblast growth factor receptor 1 activity is required for FGF-1 stimulated cell proliferation and priming in early adipogenic events., Overexpression of the FGFR-1 gene may thus be a useful predictor of liver metastasis in patients with colorectal cancer., FGF-2 and FGFR1 expression is preserved in the motor system in end stage ALS., Signaling of transgenic Fgfr1 and Fgfr2 is important for their potential ability to mediate axon-glial interaction in the peripheral sensory pain pathway, via influencing myelinating and nonmyelinating Schwann cell function., sequential autophosphorylation of five tyrosines in the FGFR1 kinase domain is under kinetic control, mediated by both the amino acid sequence surrounding the tyrosines and their locations within the kinase structure, Results show the transforming activity of FGFR1 in mammary epithelial cells and identify RSK as a critical component of FGFR1 signaling in lobular carcinomas., Data show that FGFR1 and DDHD2 at 8p12 cooperated functionally with MYC, whereas CCND1 and ZNF703 cooperated with a dominant negative form of TP53., FGFR1 has significant effects on urothelial cell phenotype and may represent a useful therapeutic target in some cases of urothelial carcinoma., that the main role of heparin in FGF-induced signaling is to protect this naturally unstable protein against heat and/or proteolytic degradation and heparin is not essential for a direct FGF1-FGFR interaction and receptor activation, ZNF198-FGFR1 is associated with phosphorylation of several proteins including SSBP2, ABL, FLJ14235, CALM and TRIM4 proteins., monoclonal antibody analysis of multiple FGFR1 isoforms, generated by alternative splicing and post-translational modifications through glycosylation, Study describes the crystal structure of the activated tyrosine kinase domain of FGFR1 in complex with a phospholipase Cgamma fragment., a neurofascin intracellular domain activates FGFR1 for neurite outgrowth, whereas the extracellular domain functions as an additional, regulatory FGFR1 interaction domain in the course of development, binding of anosmin-1 to FGFR1 and heparin can play a dual role in assembly and activity of the ternary FGFR1.FGF2.heparin complex., There was no association among gene FGFR1 rs13317, p. E467K, p. M369I, p. S393S and gene FGF10 rs1448037 and nonsyndromic cleft lip with or without palate in Chinese population., The aim of this study was to investigate and compare FGFR expression in in vivo embryonic limb development and in vitro chondrogenesis of mesenchymal stem cells., syndecan-1 and FGF-2, but not FGFR-1 share a common transport route and co-localize with heparanase in the nucleus, and this transport is mediated by the RMKKK motif in syndecan-1, Loss-of-function mutations in FGFR1 underlie 7% of normosmic idiopathic hypogonadotropic hypogonadism with different degrees of impairment in vitro., Data report that the bFGF, FGFR1/2 and syndecan 1-4 expressions are altered in bladder tumours., depressed expression of the Klotho-FGFR1 complex in hyperplastic glands underlies the pathogenesis of secondary hyperparathyroidism and its resistance to extremely high FGF23 levels in uremic patients., Data show that oncogenic forms of fibroblast growth factor receptor type 1 inhibit the pyruvate kinase M2 (PKM2) isoform by direct phosphorylation of PKM2 tyrosine residue 105 (Y(105))., Endogenous SPARC expression can be modulated by FGFR1-III isoform expression. Endogenous SPARC expression in PANC-1 cells was increased in FGFR1-IIIb over-expressing cells, but decreased in FGFR1-IIIc over-expressing cells., Loss of FGFR1 signaling provides evidence that extracellular signals regulate not simply the proliferation or survival of radial glial cells, but specifically their progression to intermediate progenitor cells during neurogenesis in vivo., FGFR-1 amplification or protein overexpression in breast cancers may be an indicator for brivanib treatment, where it may have direct anti-proliferative effects in addition to its' anti-angiogenic effects., Studies indicate communication between tumor cells and their microenvironment is through polypeptide growth factors EGF, FGF, PDGF and receptors for these growth factors., Decreased expression of alpha-Klotho and FGFR1c in parallel with CaR expression and parathyroid cell growth may be involved in the pathogenesis of secondary hyperparathyroidism, brivanib is a dual inhibitor of vascular endothelial growth factor receptor-2 and fibroblast growth factor receptor-1 kinases, Recent advances in interactions of Kallman Syndrome (KS)-associated molecules within the FGFR1 signalling complex are covered in this review, and linkage of autosomal dominant and sex-linked modes of inheritance are discussed [review], Data suggest that amplification and overexpression of FGFR1 may be a major contributor to poor prognosis in luminal-type breast cancers, driving anchorage-independent proliferation and endocrine therapy resistance., Mutations of FGFR1 underlie an autosomal dominant form of Kallmann syndrome., amplified FGFR expression engages the STAT3 pathway, Role of FGFR1 mutations in Kallmann syndrome (Review), Based on our results, it is possible that a subtle dysfunction (expression) of the FGFR1 gene is involved in the development of the most common male reproductive tract disorder - unilateral or bilateral cryptorchidism, the phosphorylation state of FLRT1, which is itself FGFR1 dependent, may play a critical role in the potentiation of FGFR1 signalling and may also depend on a SFK-dependent phosphorylation mechanism acting via the FGFR, Dental agenesis may be a clinical feature of Kallmann syndrome caused by a mutation in the FGFR1 gene., The bFGF-FGFR1-PI3K-Rac1 pathway in the bone microenvironment may have a significant role in the invasion and metastasis of Ewing sarcoma., FGFR1 expression levels in parathyroid glands were found to be positively correlated to renal function and significantly decreased over chronic kidney disase stages., Ginsenoside-Rg1 induces angiogenesis via non-genomic crosstalk of glucocorticoid receptor and fibroblast growth factor receptor-1., Data suggest that an FGFR1alpha-to-FGFR1beta isoform switch and increased FGF1-induced activation of FGFR1beta may result in a proliferative advantage that plays a key role during bladder tumor progression., Grb14 was recruited to FGFR1 into a trimeric complex containing also phospholipase C gamma, Focal FGFR1 amplification is common in squamous cell lung cancer and associated with tumor growth and survival, suggesting that FGFR inhibitors may be a viable therapeutic option in this cohort of patients., FGFR1 is highly expressed in renal cell carcinoma patients, we identified a novel CUX1-FGFR1 fusion oncogene in a patient with the 8p11 myeloproliferative syndrome and demonstrated its transforming potential in the Ba/F3 cell line., FGFR1 is a novel obesity gene that may promote obesity by influencing adipose tissue and the hypothalamic control of appetite., FGF signaling, through cooperation between Fgfr1 and Fgfr2 (but not Fgfr3), is required for initial generation of oligodendrocyte precursors in transgenic mouse ventral forebrain, with Fgfr1 being a stronger inducer than Fgfr2., amitriptyline-induced FGFR activation might occur by the MMP-dependent shedding of FGFR ligands, such as FGF-2, thus resulting in GDNF production, Fgfr1/2 are expressed by bone-derived mesenchymal stem cells in vivo and in vitro and are developmentally regulated during their differentiation., homodimerization of FGFR1 appear to be a fundamental mechanism for the agonist activity of all FGF ligands at least in the case of the MAPK signaling., Case Report, These studies show that FGFR1 amplification is common in squamous cell lung cancer, and that FGFR1 may represent a promising therapeutic target in non-small cell lung cancer., Comprehensive mutation analysis of all 7 known KS genes (KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, and WDR11) in 30 well-phenotyped probands revealed mutations in KAL1 (3 men) and FGFR1 (all 5 women vs. 4/25 men), but not in other genes in Finland patients., Data show that the majority of TN cell lines only modest sensitive to FGFR inhibition in growth but were highly sensitive in anchorage-independent conditions., These results point to NCAM-mediated stimulation of FGFR as a novel mechanism underlying epithelial ovarian carcinoma malignancy and indicate that this interplay may represent a valuable therapeutic target., Nedd4-1 binds directly to and ubiquitylates activated FGFR1, by interacting primarily via its WW3 domain with a novel non-canonical sequence on FGFR1, regulating endocytosis & signalling during neuronal differentiation & embryonic development., Data indicate that clathrin-mediated endocytosis is required for efficient internalization and downregulation of FGFR1 while FGFR3, however, is internalized by both clathrin-dependent and clathrin-independent mechanisms., FGFR1 is the major mediator with the degenerative potential in the presence of FGF-2 in human adult articular chondrocytes, inductiion of mammary tumorigenesis requires activation of the epidermal growth factor receptor, MicroRNA-16 and microRNA-424 regulate cell-autonomous angiogenic functions in endothelial cells via targeting vascular endothelial growth factor receptor-2 and fibroblast growth factor receptor-1., Levels of FGF2 and FGFR1 in saliva and serum from patients with salivary gland tumors were significantly higher than those from healthy control subjects suggesting their potential use as cancer biomarkers., For the first time, our gene expression profiling experiment on archival tumour materials has identified upregulated FGFR1 expression to be associated with PC progression to the CR state., LDH-A is tyrosine phosphorylated and activated by FGFR1 in cancer cells., FGFR1 gene rearrangement is associated with systemic mastocytosis and myeloid/lymphoid neoplasm in blast crisis., An increased FGFR1 gene copy number was found in 32 (32%) lung cancer patients, Fibronectin induces endothelial cell migration through beta1 integrin and Src-dependent phosphorylation of fibroblast growth factor receptor-1 at tyrosines 653/654 and 766., Deletion of the D1 and the D1-D2 linker (the D1/linker region) from FGFR1c led to beta-Klotho-independent receptor activation by FGF21, suggesting that there may be a direct interaction between FGF21 and the D1/linker region-deficient FGFR1c., genetic association studies in 103 patients from US and UK, The expression of FGFR1 in patients' biopsies may serve as a marker of response to chemoradiotherapy., Differential specificity of endocrine FGF19 and FGF21 to FGFR1 and FGFR4 in complex with KLB., FGFR1 amplification is a common genetic event occurring at a frequency of 16% in L-SCCs. Moreover, lymph node metastases derived from FGFR1-amplified L-SCCs also exhibit FGFR1 amplification., INFS/Nurr1 nuclear partnership provides a novel mechanism for TH gene regulation in mDA neurons and a potential therapeutic target in neurodevelopmental and neurodegenerative disorders., KLB and FGFR1 form a 1, FGFR1 initiates MAPK signaling, whereas S4-dependent FGFR1 macropinocytosis modulates the kinetics of MAPK activation, Targeting FGFR signaling is a promising new approach to treating aggressive prostate cancer, There were no significant associations between FGFR1 and clinicopathological parameters in lung cancer, FGFR1 localized to the nucleus specifically in invading cells in both clinical material and a three-dimensional model of breast cancer, proteins with LRR, IG, and FNIII are candidate regulators of the FGFRs. Here we identify leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) as a regulator of the FGFRs, Conclude that FGFR1 amplification is one of the most frequent therapeutically tractable genetic lesions in pulmonary carcinomas., FGFR1 activation in urothelial carcinoma cell lines promotes epithelial-mesenchymal transition via coordinated activation of multiple signalling pathways and by promoting activation of prostaglandin synthesis., The data shows that patients with congenital hypogonadotropic hypogonadism and a splice-site mutation in FGFR1 can undergo reversal., Mutations in FGFR1 gene is associated with the development of myeloid and lymphoid malignancies., results of the present study suggest that MUC4 promotes invasion and metastasis by FGFR1 stabilization through the N-cadherin upregulation., study reports that a small subset of glioblastoma multiforme tumors harbors oncogenic chromosomal translocations that fuse in-frame the tyrosine kinase coding domains of fibroblast growth factor receptor genes(FGFR1 or FGFR3) to the transforming acidic coiled-coil coding domains of TACC1 or TACC3; the FGFR-TACC fusion protein displays oncogenic activity, The novel findings reported in this study are expected to provide valuable clues toward a complete understanding of the other genetic diseases linked to mutations in the FGFR., FGFR1 is amplified during the progression of in situ to invasive breast carcinoma., Report recycling/degradation pathways of FRG receptor 1 in human glioma cell line., Nectin-1 Ig3 induced phosphorylation of FGFR1c in the same manner as the whole nectin-1 ectodomain, and promoted survival of cerebellar granule neurons induced to undergo apoptosis., ErbB3 but not Fgfr1 mRNA levels are reduced in leukocytes of patients with major depressive disorders compared to healthy subjects., Fibroblast growth factor receptor 1 activation leads to induction of CX3CL1 in a tumor setting., FGFR1 polymorphisms, especially rs4647905, can have an important role in the normal human skull variation, primarily due to their influence in head length., The incidence of FGFR1 amplification within Chinese patient non-small cell lung carcinoma tumors was 6 of 48 squamous origin and 5 of 76 adenocarcinoma., demonstrate skeletal phenotypic characterization of patients presenting with Kallmann syndrome and FGFR1 mutations, FGFR1 amplification is associated with squamous cell carcinoma of the lung., A novel mRNA in-frame fusion between exon 4 of the breakpoint cluster region (BCR) gene at chromosome 22q11 and exon 9 of FGFR1 gene on chromosome 8p11-12 was identified by reverse transcription polymerase chain reaction, Data indicate that FGFR1 amplification is an independent negative prognostic factor in surgically resected squamous cell carcinoma of the lung (SCCL) and is associated with cigarette smoking in a dose-dependent manner., Data suggest for therapeutic targeting of the FGF-2/FGFR1/CEP57 axis in prostate cancer., 2 patients with congenital isolated hypogonadotropic hypogonadism were found to have mutations in FGFR1 (R254W and R254Q); both are loss-of-function mutations demonstrated by their reduced overall and cell surface expression suggesting a deleterious effect on receptor folding and stability, Upregulation of FGFR1 is associated with gastric cancer., The role of the FGFR/klotho-axis remains still unclear in primary hyperparathyroidism., the combination of dovitinib + NVP-BEZ235 or dovitinib + AEE788 results in strong inhibition of tumor growth and a block in metastatic spread. Only these combinations strongly down-regulate the FGFR/FRS2/Erk and PI3K/Akt/mTOR signaling pathways, In Thai Pfeiffer syndrome patients, FGFR1 mutations in exon 5 were identified., FGFR1 amplification is much more common in squamous cell lung cancers (21%) than in lung adenocarcinoma (3.4%). Survival of FGFR1-amplified lung cancer cell lines was additionally shown to be dependent on overexpression of the FGFR1 kinase., Copy number variations of the FGFR1 gene occur in a subset of OTSCC with approximately 10% of cases showing amplification of the gene. FGFR1 amplification may represent a therapeutic target in OTSCC, data demonstrate that FGFR1 and FGFR3 have largely non-overlapping roles in regulating invasion/metastasis and proliferation in distinct "mesenchymal" and "epithelial" subsets of human BC cells, FGF2 -FGFR1 activation through an autocrine loop is a novel mechanism of acquired resistance to EGFR-tyrosine kinase inhibitors., Growth inhibition induced by ponatinib was associated with inactivation of FGFR1 and its downstream targets., Phosphorylation of serine 779 in fibroblast growth factor receptor 1 and 2 by protein kinase C(epsilon) regulates Ras/mitogen-activated protein kinase signaling and neuronal differentiation., KLF10 is an effective repressor of myoblast proliferation and represses FGFR1 promoter activity in these cells via an Sp1 binding site., B-lymphoblastic leukemia/lymphoma associated with t(8;13)(p11;q12)/ ZMYM2 (ZNF198)-FGFR1, Our data identify fibroblast growth factor receptor 1 amplification as a frequent event in primary and metastatic head and neck squamous cell carcinoma and represents a potential biomarker for more aggressive disease., The mRNA expressions of the proangiogenic growth factors VEGF, PDGF, bFGF and their receptors (VEGFR1, VEGFR2, PDGFRA, PDGFRB, FGFR1, FGFR2) were measured and compared in gastric ulcers of cirrhotic patients., CNTRL and FGFR1 have roles in myeloid and lymphoid malignancies in both human and mouse models, High FGFR1 gene copy number is a common finding in SCC and LCC and is an independent favourable prognostic factor., The FGFR1-amplified pancreatic carcinoma cell line PT45P1 showed high levels of FGFR1 mRNA and protein expression., Identified a novel FGFR1 mutation in six out of seven Harstfield syndrome patients., Network models inferred from the data revealed a conserved set of signaling pathways and RTK-specific features that grouped the RTKs into three distinct classes, In this study, we provide evidence that 5% of Small-cell lung cancer cases show targetable high-level FGFR1 amplification, FGFR1 amplification was found in subsets of sinonasal squamous cell carcinoma (20%), carcinomas associated with an inverted papilloma (33%), and sinonasal undifferentiated carcinoma (5%)., A significant association of haplotype GTAA in BMP4 (p = 0.01) and FGFR1 rs13317 (p = 0.005) with NU could be observed., Studies demonstrate that FGFR1 signaling mediates the continuation of MSC growth and establishes a receptor target for enhancing the expansion of mesenchymal progenitors while maintaining their multilineage potential., downregulation of miR-214 in HCC and the upregulation of its target gene FGFR-1 is associated with hepatocellular carcinoma progression, Mechanistic insights into the S100B-FGF2 complex interface and cell-based assay studies involving mutants led us to conclude the novel role of S100B in FGF2 mediated FGFR1 receptor inactivation., Fibroblast growth factor receptor 1 gene locus amplification is associated with lung squamous cell carcinoma., Of 454 primary colorectal cancers, 24 displayed FGFR1 amplification. Of 99 investigated tumors, 18 revealed membranous activated pFGFR1 protein. FGFR1 mRNA levels were independent of the amplification status or pFGFR1 protein occurrence., Activated RSK2 directly interacts with and phosphorylates FGFR1, thereby modulating receptor signaling through regulation of endocytosis., Taken together, the participation of 5-HT1A and FGFR1 homodimers and recruitment of beta-arrestin2 was demonstrated in the FGFR1-5-HT1A heteroreceptor complexes upon agonist treatments., high level of gene amplifications brain metastases of adenocarcinomas but not in squamous cell carcinomas of the lung, Our cutpoint analysis showed a clear threshold effect for the impact of FGFR1 amplification on patients' survival, which can be used as an initial guide for patient selection in trials assessing efficacy of novel FGFR inhibitors., Increased expression of SOX2 and FGFR1 indicate poor prognosis in small cell lung cancer patients., Amplification of FGFR1 is one of the most frequent candidate targets in lung cancer., FGFR1, WNT, and TGF-beta have roles in signaling of reactive stroma in aggressive prostate adenocarcinomas, Individuals with the derived allele of the rs4647905, We further demonstrated that miR-198 directly targets fibroblast growth factor receptor 1 (FGFR1) in lung cancer cells., FGFR1 overexpression is associated with triple-negative breast cancer., Allele frequency analysis showed significant association between the FGFR1 rs13317 polymorphism and international prostate symptom score., Our findings suggested that FGFR inhibition could delay breast tumor progression, impair lung metastasis and break immunosuppression by effecting on tumor microenvironment, which may provide a promising therapeutic approach for breast cancer patient., Nuclear targeting of FGFR1 and FGF2 in pancreatic stellate cells facilitates pancreatic cancer cell invasion., Case Report, FGFR1 gene polymorphism is associated with lower rate of developing cleft palate or cleft lip in Iranian patients., Down-regulation of miR-214 expression was correlated with increased FGFR1 expression levels, which may contribute to increased colorectal liver metastasis., Data suggest that fibroblast growth factor receptor type 1 (FGFR1) isoform expression can be used as a predictive biomarker for therapeutic application of its kinase inhibitors., FGFR1 lacking kinase domain inhibits canine and human sarcoma cell growth In Vitro., Mutations were found in the following genes in one or more patients with congenital hypogonadotropic hypogonadism, Amplification owing to polysomy of chromosome 8, where FGFR1 locates, was observed in small-cell lung cancer., Increased SOX2 gene copy number is associated with FGFR1 and PIK3CA gene gain in non-small cell lung cancer and predicts improved survival in early stage disease, High FGFR1 mRNA and protein expression, not gene copy number, predict FGFR TKI sensitivity across all lung cancer histologies., FGFR1 or FGFR2 genotype did not correlate with upper extremity phenotype in Pfeiffer syndrome., Case Report, This study presence of FGFR1 mutations in Rosette-forming glioneuronal tumors of the fourth ventricle cases., Insulin-induced apoptotic commitment depended on the down-regulation of Erk-1, insulin growth factor-1 receptor (IGF-1R), and fibroblast growth factor receptor-1 (FGFR-1)-mediated signaling., FGFR1 tyrosine kinase fusions are associated with aggressive molecular subtype of non-small cell lung cancer., FGFR1 amplification is common in early-stage squamous cell carcinomas of the lung and is an independent and adverse prognostic marker., FGFR1 amplification is detected in a higher proportion of patients whose tumors revealed a poor response to chemotherapy., study reports on a novel heterozygous FGFR1 mutation in 2 siblings with Hartsfield syndrome; both parents were negative for the sequence variant in FGFR1 gene; this suggests gonadal mosaicism, expression appears to be associated with parathyroid carcinoma in hyperparathyroidism-jaw tumor syndrome, Concomitant FGFR3 mutations and protein overexpression indicate that FGFR3-mediated signalling in these tumours would probably be highly active., Our findings provide evidence for mTORC1 activation and FGFR1 overexpression in human fibrolamellar carcinoma, Autocrine signaling through FGFR1 represents a targetable therapeutic pathway in malignant pleural mesothelioma., results suggest that FGFR1 amplification is associated with smoking history and squamous cell carcinoma histology and might indicate poor prognosis., Fluorescence in situ hybridization analysis revealed no polysomy nor an amplification of the FGFR gene copy number in any case, Studies indicate that the overall survival was significantly worse among patients with fibroblast growth factor receptor FGFR1 and FGFR2 gene amplification, Hearing ability was strongly associated with DNA methylation levels in the promoter regions of several genes, including TCF25, FGFR1, and POLE., FGF signaling mediates a positive feedback loop between prostatce cancer cells and bone cells and that blockade of FGFR1 in osteoblasts partially mediates the antitumor activity of dovitinib., Blockade of FGFR1 by a tyrosine kinase inhibitor impairs growth of malignant pleural mesothelioma cells in vitro and in vivo. Read More, Endothelial cells in human patients with chronic cardiac graft rejection lose FGFR1. FGFR1 is the key regulator of TGFbeta signaling and EndMT development., A three-generation family with five members have a heterozygous FGFR1 p.Pro252Arg mutation and variable expressivity of Pfeiffer syndrome., Report FN1-FGFR1 genetic fusion as a frequent event in phosphaturic mesenchymal tumour., FIIN-2 and FIIN-3 are the first inhibitors that can potently inhibit the proliferation of cells dependent upon the gatekeeper mutants of FGFR1 or FGFR2, which confer resistance to first-generation clinical FGFR inhibitors, kinetics of the interaction between serine/threonine-rich domain of thrombomodulin (rTMD23) and FGFR1 were analysed in umbilical vein endothelial cells, Probands and available family members underwent phenotyping and screening for FGFR1 mutations., Gender, stage, differentiation, ethnicities and test methods have no influence on FGFR1 amplification. FGFR1 amplification trends to correlate with lymph node metastasis and smoking. Whether FGFR1 amplification has effect on survival remains controversial, 5-HT1A autoreceptors are recruited into a FGFR1-5-HT1A heteroreceptor complex in the midbrain raphe 5-HT nerve cells and may develop a novel function, FGFR1 was found commonly overexpressed in ectopic endometrium of endometriosis compared with either its eutopic counterpart or endometrium from normal patients, approach identified 18 kinase and kinase-related genes whose overexpression can substitute for EGFR in EGFR-dependent PC9 cells, and these genes include seven of nine Src family kinase genes, FGFR1, FGFR2, ITK, NTRK1, NTRK2, MOS, MST1R, and RAF1., Data show that high fibroblast growth factor receptor 1 (FGFR1) amplification had significantly shorter disease-free survival and overall survival than low/no amplification group., We found that only inhibition of JNK significantly decreased the activation of MMP26 in response to FGF1 stimulation, suggesting that activation of FGFR1 signaling may activate JNK to activate MMP26 in non-small-cell lung cancer, Phosphorylation of FGFR-1, AKT, and ERK1/2 in xenograft specimens was also inhibited by AZD-4547 administration, RUNX2 signaling pathways with their partners TCF7 and FGFR1/2 may not be involved in CCD pathogenesis, Membrane FGFR and intranucelar FGFR/CBP pathways regulate FGF-23 transcription., The 1.65 A resolution crystal structure of AZD4547 bound to the kinase domain of FGFR1 has been determined and reveals extensive drug-protein interactions, Our results imply that FGFR1 may be a potential therapeutic target in SCLC and it could be confirmed in a clinical trial., FGFR1 expression in TNBCs is independently prognostic of OS, and H-score of 100 or more FGFR1 immunostaining may define tumors that have treatment potential via FGFR signaling inhibition., Increased expression of FGFR1 (and FRS2alpha) was associated with decreased progression-free survival in metastatic renal cell carcinoma., These results suggested that FGFR1 specifically antagonizes influenza A virus replication, probably by blocking viral entry., ESyt2 and ESyt3, but not ESyt1, interact with activated FGFR1., FGFR1 mRNA or protein expression, rather than FGFR1 CNG as a predictive biomarker for the response to FGFR inhibitors in a subset of patients suffering from HNSCC., FGFR1 protein expression is correlated with FGFR1 mRNA levels and FGFR1 gene copy number in small cell lung cancer., Kallmann syndrome with FGFR1 and KAL1 mutations was detected during fetal life, FGFR1 gene rearrangement is associated with mixed-phenotype acute leukemia., Our results indicated that these five polymorphisms of fibroblast growth factor receptor genes do not play any independent roles in the tumorigenesis and progression of HBV-related HCC in Han Chinese patients., 7%) of cases that were associated with an adverse outcome in Pilocytic Astrocytomas., FGFR1 Gene Copy Number gain was more frequently found (26.5%) than gene amplification (3.8%) and correlated with aggressive clinical behavior in consecutive Colorectal carinoma patients., LMP1-mediated FGFR1 activation contributes to aerobic glycolysis and transformation of epithelial cells, thereby implicating FGF2/FGFR1 signalling activation in the EBV-driven pathogenesis of nasopharyngeal carcinoma., FGFR1 may constitute a promising target for novel therapeutic approaches in Ewing sarcoma., Two novel heterozygous missense mutations in FGFR1 and one novel heterozygous missense mutation in KISS1R, were identified in in Chinese Kallmann Syndrome Males with Cleft Lip/Palate., distributed network of individual contributions from several regions of the kinase structure conspires to hinder Asp-Phe-Gly flip; most important of these is likely to reside in the alphaC-beta4 loop region, Amplification of the FGFR1 gene is a rare but noticeable event that can be found in 2% (6/293) of gastric adenocarcinoma cases and was associated with poor 10-year survival, homodimerization of unliganded FGFR1 is independent of its surface density, Report novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism., The present report shows the molecular mechanism underlying the control of trans-phosphorylation of a critical auto-regulatory site in FGF receptors' catalytic domain., These findings suggest that enhanced integrin alphavbeta3 expression in addition to enhanced FGFR1 expression is critical for FGF1 to augment TGF-beta1-induced EMT in mammary epithelial cells., Data show that silencing of fibroblast growth factor receptors FGFR1 or FGFR2 overcomes resistance to the proto-oncogene proteins c-met (MET) inhibitor., FGF1-FGFR1 axis promotes tongue squamous cell carcinoma metastasis through the epithelial-mesenchymal transition pathway, We therefore suggest that FGFR inhibitors exert their effect by suppressing ERK signaling without feedback activation., We analyzed 11 cases of phosphaturic mesenchymal tumor in this study and found that 4/11 cases exhibited cytoplasmic and membranous staining with strong intensity, and 7/11 exhibited cytoplasmic dot-like staining with moderate to weak intensity., FGFR1 amplification occurs in a relevant subgroup of carcinomas of the esophagus and may play a particular role for development of squamous cell cancers., Results identified a strong association between the abundance of Corynebacterium jeikeium and single nucleotide polymorphisms in the host FLG gene related to epidermal barrier function., determined the expression rates of FGFR1, FGF2 and IP3K as a reference for Turkish patients, FGFR1 contributes to cell proliferation in osteosarcoma MG63 cells, and FGFR1 mediated cell proliferation may be attributed to the regulation of the cell cycle regulator, CDK1., In this study we report the frequency of FGFR1 and KAT6A involvement in patients with hematological malignancies and 8p11 abnormalities., FGFR1/2 act in concert to recruit and transphosphorylate phospholipase Cgamma1., Frequency of FGFR1 amplification is similar in squamous cell carcinoma of lung with and without lymph node metastases, FGFR1 protein expression may be a biomarker of ER-positive/HER2-negative primary breast cancer with possible resistance to standard treatment, and may be a useful tool to identify more specific patients who would benefit from FGFR-1 targeted therapy., FGFR1 gene mutation may play a role in the development of craniosynostosis., We identified two recurrent mutations in FGFR1 in individuals with encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder.,
OFFICIAL_GENE_SYMBOL FGFR1,
OMIM_DISEASE Pfeiffer syndrome, Jackson-Weiss syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia, Trigonocephaly 1, Hartsfield syndrome,
SP_COMMENT catalytic activity:ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate., disease:A chromosomal aberration involving FGFR1 may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Translocation t(8;13)(p11;q12) with ZMYM2. SCLL usually presents as lymphoblastic lymphoma in association with a myeloproliferative disorder, often accompanied by pronounced peripheral eosinophilia and/or prominent eosinophilic infiltrates in the affected bone marrow., disease:A chromosomal aberration involving FGFR1 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(6;8)(q27;p11) with FGFR1OP. Insertion ins(12;8)(p11;p11p22) with FGFR1OP2. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion proteins FGFR1OP2-FGFR1, FGFR1OP-FGFR1 or FGFR1-FGFR1OP may exhibit constitutive kinase activity and be responsible for the transforming activity., disease:A chromosomal aberration involving FGFR1 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(8;9)(p12;q33) with CEP110. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion protein CEP110-FGFR1 is found in the cytoplasm, exhibits constitutive kinase activity and may be responsible for the transforming activity., disease:Defects in FGFR1 are a cause of idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]. IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function., disease:Defects in FGFR1 are a cause of Pfeiffer syndrome (PS) [MIM:101600]; also known as acrocephalosyndactyly type V (ACS5). PS is characterized by craniosynostosis (premature fusion of the skull sutures) with deviation and enlargement of the thumbs and great toes, brachymesophalangy, with phalangeal ankylosis and a varying degree of soft tissue syndactyly., disease:Defects in FGFR1 are the cause of Kallmann syndrome type 2 (KAL2) [MIM:147950]; also known as hypogonadotropic hypogonadism and anosmia. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In some cases, midline cranial anomalies (cleft lip/palate and imperfect fusion) are present and anosmia may be absent or inconspicuous., disease:Defects in FGFR1 are the cause of non-syndromic trigonocephaly [MIM:190440]; also known as metopic craniosynostosis. The term trigonocephaly describes the typical keel-shaped deformation of the forehead resulting from premature fusion of the frontal suture. Trigonocephaly may occur also as a part of a syndrome., disease:Defects in FGFR1 are the cause of osteoglophonic dysplasia (OGD) [MIM:166250]; also known as osteoglophonic dwarfism. OGD is characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant., function:Receptor for basic fibroblast growth factor. A shorter form of the receptor could be a receptor for FGF1 (aFGF)., PTM:Binding of FGF1 and heparin promotes autophosphorylation on tyrosine residues and activation of the receptor., similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family., similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily., similarity:Contains 1 protein kinase domain., similarity:Contains 3 Ig-like C2-type (immunoglobulin-like) domains., subunit:Interacts with SHB. Interacts with KLB.,