FGFR3

Summary

Gene Symbol: FGFR3
Description: fibroblast growth factor receptor 3
Alias: ACH, CD333, CEK2, HSFGFR3EX, JTK4, fibroblast growth factor receptor 3, FGFR-3, fibroblast growth factor receptor 3 variant 4, hydroxyaryl-protein kinase, tyrosine kinase JTK4
Species: human
Products:     FGFR3

Top Publications

  1. Meyers G, Orlow S, Munro I, Przylepa K, Jabs E. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet. 1995;11:462-4 pubmed
    ..In contrast, only FGFR3 mutations have been reported in dwarfing conditions--achondroplasia, thanatophoric dysplasia, and ..
  2. Cappellen D, De Oliveira C, Ricol D, de Medina S, Bourdin J, Sastre Garau X, et al. Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. Nat Genet. 1999;23:18-20 pubmed
  3. Webster M, Donoghue D. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. EMBO J. 1996;15:520-7 pubmed
    ..has recently been shown to result from a Gly to Arg substitution in the transmembrane domain of the fibroblast growth factor receptor 3 (FGFR3), although the molecular consequences of this mutation have not been investigated...
  4. Gibbs L, Legeai Mallet L. FGFR3 intracellular mutations induce tyrosine phosphorylation in the Golgi and defective glycosylation. Biochim Biophys Acta. 2007;1773:502-12 pubmed
    Mutations of the Fibroblast Growth Factor Receptor 3 (FGFR3) gene have been implicated in a series of skeletal dysplasias including hypochondroplasia, achondroplasia and thanatophoric dysplasia...
  5. Olsen S, Garbi M, Zampieri N, Eliseenkova A, Ornitz D, Goldfarb M, et al. Fibroblast growth factor (FGF) homologous factors share structural but not functional homology with FGFs. J Biol Chem. 2003;278:34226-36 pubmed
    ..Hence, FHFs and FGFs bear striking structural similarity but have diverged to direct related surfaces toward interaction with distinct protein targets. ..
  6. Chen F, Hristova K. The physical basis of FGFR3 response to fgf1 and fgf2. Biochemistry. 2011;50:8576-82 pubmed publisher
    ..As a result, fgf1 and fgf2 elicit a similar FGFR3c response at low, but not at high, concentrations. The results demonstrate the versatility of FGFR3c response to fgf1 and fgf2 and highlight the complexity in fgf signaling. ..
  7. Tavormina P, Shiang R, Thompson L, Zhu Y, Wilkin D, Lachman R, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet. 1995;9:321-8 pubmed
    ..Mutations causing achondroplasia are in FGFR3, suggesting that mutations in this gene may cause TD...
  8. Ornitz D, Xu J, Colvin J, McEwen D, MacArthur C, Coulier F, et al. Receptor specificity of the fibroblast growth factor family. J Biol Chem. 1996;271:15292-7 pubmed
    ..These data should serve as a biochemical foundation for determining developmental, physiological, and pathophysiological processes that involve FGF signaling pathways. ..
  9. Kanai M, Rosenberg I, Podolsky D. Cytokine regulation of fibroblast growth factor receptor 3 IIIb in intestinal epithelial cells. Am J Physiol. 1997;272:G885-93 pubmed
    ..the effects of growth factors and cytokines on the expression of the fibroblast growth factor (FGF) receptor 3 (FGFR3) IIIb expressed on intestinal epithelial cells were examined in Caco-2 cells...

More Information

Publications98

  1. Yagasaki F, Wakao D, Yokoyama Y, Uchida Y, Murohashi I, Kayano H, et al. Fusion of ETV6 to fibroblast growth factor receptor 3 in peripheral T-cell lymphoma with a t(4;12)(p16;p13) chromosomal translocation. Cancer Res. 2001;61:8371-4 pubmed
    ..We identified a novel ETV6 partner gene, fibroblast growth factor receptor 3 (FGFR3), in a patient with peripheral T-cell lymphoma (PTCL) with a t(4;12)(p16;p13) translocation...
  2. Catto J, Miah S, Owen H, Bryant H, Myers K, Dudziec E, et al. Distinct microRNA alterations characterize high- and low-grade bladder cancer. Cancer Res. 2009;69:8472-81 pubmed publisher
    ..In particular, loss of microRNAs-99a/100 leads to upregulation of FGFR3 before its mutation. Promoter hypermethylation is partly responsible for microRNA downregulation...
  3. Adar R, Monsonego Ornan E, David P, Yayon A. Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization. J Bone Miner Res. 2002;17:860-8 pubmed
    Various human skeletal disorders are thought to be caused by mutations in fibroblast growth factor receptor 3 (FGFR3). These result in chronic FGFR3 hyperactivation and inhibition of bone growth...
  4. Singh D, Chan J, Zoppoli P, Niola F, Sullivan R, Castaño A, et al. Transforming fusions of FGFR and TACC genes in human glioblastoma. Science. 2012;337:1231-5 pubmed publisher
    ..that fuse in-frame the tyrosine kinase coding domains of fibroblast growth factor receptor (FGFR) genes (FGFR1 or FGFR3) to the transforming acidic coiled-coil (TACC) coding domains of TACC1 or TACC3, respectively...
  5. Zingone A, Cultraro C, Shin D, Bean C, Morse H, Janz S, et al. Ectopic expression of wild-type FGFR3 cooperates with MYC to accelerate development of B-cell lineage neoplasms. Leukemia. 2010;24:1171-8 pubmed publisher
    ..t(4;14) translocation in multiple myeloma (MM) simultaneously dysregulates two apparent oncogenes: fibroblast growth factor receptor 3 (FGFR3) controlled by the 3' immunoglobulin heavy chain enhancer on der(14) and MMSET controlled by ..
  6. Monsonego Ornan E, Adar R, Rom E, Yayon A. FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation. FEBS Lett. 2002;528:83-9 pubmed
    ..Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblast growth factor receptor 3 (FGFR3) with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or ..
  7. Al Ahmadie H, Iyer G, Janakiraman M, Lin O, Heguy A, Tickoo S, et al. Somatic mutation of fibroblast growth factor receptor-3 (FGFR3) defines a distinct morphological subtype of high-grade urothelial carcinoma. J Pathol. 2011;224:270-9 pubmed publisher
    b>FGFR3 mutations are common in low-grade urothelial carcinoma and represent a potential therapeutic target in this disease...
  8. Bodoor K, Ghabkari A, Jaradat Z, Alkhateeb A, Jaradat S, Al Ghazo M, et al. FGFR3 mutational status and protein expression in patients with bladder cancer in a Jordanian population. Cancer Epidemiol. 2010;34:724-32 pubmed publisher
    ..Recent studies have shown that activating mutations in FGFR3 are the most common findings in non-invasive low grade bladder tumors...
  9. Deng C, Wynshaw Boris A, Zhou F, Kuo A, Leder P. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell. 1996;84:911-21 pubmed
    ..We have identified a role for fibroblast growth factor receptor 3 (FGFR-3) in this process by disrupting the murine Fgfr-3 gene to produce severe and progressive ..
  10. Rousseau F, Bonaventure J, Legeai Mallet L, Pelet A, Rozet J, Maroteaux P, et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature. 1994;371:252-4 pubmed
    ..8); the genetic interval encompassing the disease gene contains a member of the fibroblast-growth-factor receptor (FGFR3) family which is expressed in articular chondrocytes...
  11. van Rhijn B, Liu L, Vis A, Bostrom P, Zuiverloon T, Fleshner N, et al. Prognostic value of molecular markers, sub-stage and European Organisation for the Research and Treatment of Cancer risk scores in primary T1 bladder cancer. BJU Int. 2012;110:1169-76 pubmed publisher
    ..using clinicopathological variables, T1 sub-stage, EORTC risk scores and molecular markers (fibroblast growth factor receptor 3 gene mutation and Ki-67, P53, P27 expression). The median follow-up was 6.5 years...
  12. van Oers J, Lurkin I, van Exsel A, Nijsen Y, van Rhijn B, van der Aa M, et al. A simple and fast method for the simultaneous detection of nine fibroblast growth factor receptor 3 mutations in bladder cancer and voided urine. Clin Cancer Res. 2005;11:7743-8 pubmed
    Mutations in the fibroblast growth factor receptor 3 (FGFR3) occur in 50% of primary bladder tumors...
  13. Tavormina P, Bellus G, Webster M, Bamshad M, Fraley A, McIntosh I, et al. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Am J Hum Genet. 1999;64:722-31 pubmed
    We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1)...
  14. Rosty C, Aubriot M, Cappellen D, Bourdin J, Cartier I, Thiery J, et al. Clinical and biological characteristics of cervical neoplasias with FGFR3 mutation. Mol Cancer. 2005;4:15 pubmed
    We have previously reported activating mutations of the gene coding for the fibroblast growth factor receptor 3 (FGFR3) in invasive cervical carcinoma...
  15. Hart K, Robertson S, Kanemitsu M, Meyer A, Tynan J, Donoghue D. Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4. Oncogene. 2000;19:3309-20 pubmed
    ..Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found ..
  16. Rousseau F, El Ghouzzi V, Delezoide A, Legeai Mallet L, Le Merrer M, Munnich A, et al. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Hum Mol Genet. 1996;5:509-12 pubmed
    ..Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene were identified in both subtypes...
  17. Zieger K, Dyrskjøt L, Wiuf C, Jensen J, Andersen C, Jensen K, et al. Role of activating fibroblast growth factor receptor 3 mutations in the development of bladder tumors. Clin Cancer Res. 2005;11:7709-19 pubmed
    ..Recent reports suggest activating mutations of the fibroblast growth factor receptor 3 (FGFR3) gene as marker for the "papillary" pathway with good prognosis, in contrast to ..
  18. Williams S, Hurst C, Knowles M. Oncogenic FGFR3 gene fusions in bladder cancer. Hum Mol Genet. 2013;22:795-803 pubmed publisher
    FGF receptor 3 (FGFR3) is activated by mutation or over-expression in many bladder cancers. Here, we identify an additional mechanism of activation via chromosomal re-arrangement to generate constitutively activated fusion genes...
  19. Keegan K, Johnson D, Williams L, Hayman M. Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3. Proc Natl Acad Sci U S A. 1991;88:1095-9 pubmed
    ..These data establish the existence of an additional member of the FGFR family that we have named FGFR-3. ..
  20. Ouerhani S, Rouissi K, Kourda N, Marrakchi R, Bougatef K, Riadh Ben Slama M, et al. Combined analysis of smoking, TP53, and FGFR3 mutations in Tunisian patients with invasive and superficial high-grade bladder tumors. Cancer Invest. 2009;27:998-1007 pubmed publisher
    In our cohort, FGFR3 mutations were detected in 31.1% of bladder tumors and are associated with lower stage and grade. Concerning TP53, 62 mutations were found in tumors from 44 cases (48.88%) and are associated with advanced forms...
  21. Doherty E, Lacbawan F, Hadley D, Brewer C, Zalewski C, Kim H, et al. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A. 2007;143A:3204-15 pubmed
    ..hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the Pro250Arg mutation in the FGFR3 gene...
  22. Hirotsu M, Setoguchi T, Matsunoshita Y, Sasaki H, Nagao H, Gao H, et al. Tumour formation by single fibroblast growth factor receptor 3-positive rhabdomyosarcoma-initiating cells. Br J Cancer. 2009;101:2030-7 pubmed publisher
    ..Rhabdomyosarcoma cell lines included small populations of fibroblast growth factor receptor 3 (FGFR3)-positive cells...
  23. Foldynova Trantirkova S, Wilcox W, Krejci P. Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. Hum Mutat. 2012;33:29-41 pubmed publisher
    ..field of bone biology was significantly advanced by the discovery that activating mutations in the fibroblast growth factor receptor 3 (FGFR3) receptor tyrosine kinase (TK) account for the common genetic form of dwarfism in humans, ..
  24. van Rhijn B, van Tilborg A, Lurkin I, Bonaventure J, de Vries A, Thiery J, et al. Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders. Eur J Hum Genet. 2002;10:819-24 pubmed
    Activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are responsible for several autosomal dominant craniosynostosis syndromes and chondrodysplasias i.e...
  25. Johnston C, Cox H, Gomm J, Coombes R. Fibroblast growth factor receptors (FGFRs) localize in different cellular compartments. A splice variant of FGFR-3 localizes to the nucleus. J Biol Chem. 1995;270:30643-50 pubmed
    ..We conclude that two forms of FGFR-3 are present in breast epithelial cells; a full-length 135-kDa receptor, which has a conventional membrane localization, and a novel soluble form of 110 kDa. ..
  26. Harada D, Yamanaka Y, Ueda K, Nishimura R, Morishima T, Seino Y, et al. Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1. Bone. 2007;41:273-81 pubmed
    The most frequent type of rhizomelic dwarfism, achondroplasia (ACH), is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene...
  27. Mandinova A, Kolev V, Neel V, Hu B, Stonely W, Lieb J, et al. A positive FGFR3/FOXN1 feedback loop underlies benign skin keratosis versus squamous cell carcinoma formation in humans. J Clin Invest. 2009;119:3127-37 pubmed publisher
    ..In contrast, the tyrosine kinase receptor FGF receptor-3 (FGFR3) and the transcription factor forkhead box N1 (FOXN1) were highly expressed in SKs, and close to undetectable in ..
  28. Kanai M, Göke M, Tsunekawa S, Podolsky D. Signal transduction pathway of human fibroblast growth factor receptor 3. Identification of a novel 66-kDa phosphoprotein. J Biol Chem. 1997;272:6621-8 pubmed
    Stimulation of fibroblast growth factor receptor 3 (FGFR3) results in a variety of functional effects, including regulation of epithelial cell growth and differentiation...
  29. Jang J. Identification and characterization of soluble isoform of fibroblast growth factor receptor 3 in human SaOS-2 osteosarcoma cells. Biochem Biophys Res Commun. 2002;292:378-82 pubmed
    We have previously reported the alternatively spliced transcripts of fibroblast growth factor 3 (FGFR3 ATs and MTs) derived by aberrant splicing and usage of cryptic splicing sites...
  30. Chesi M, Nardini E, Brents L, Schrock E, Ried T, Kuehl W, et al. Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. Nat Genet. 1997;16:260-4 pubmed
    ..The chromosome-4 breakpoints are clustered in a 70-kb region centromeric to the fibroblast growth factor receptor 3 gene (FGFR3), the apparent dysregulated oncogene...
  31. Passos Bueno M, Wilcox W, Jabs E, Sertié A, Alonso L, Kitoh H. Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat. 1999;14:115-25 pubmed
    ..entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3)...
  32. Barbisan F, Santinelli A, Mazzucchelli R, Lopez Beltran A, Cheng L, Scarpelli M, et al. Strong immunohistochemical expression of fibroblast growth factor receptor 3, superficial staining pattern of cytokeratin 20, and low proliferative activity define those papillary urothelial neoplasms of low malignant potential that do not recur. Cancer. 2008;112:636-44 pubmed
    ..The objective of the current study was to evaluate immunohistochemically tissue expression of fibroblast growth factor receptor 3 (FGFR3), cytokeratin 20 (CK20), and MIB-1 in nonrecurrent and recurrent PUNLMP...
  33. Kong M, Wang C, Donoghue D. Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation. J Biol Chem. 2002;277:15962-70 pubmed
    b>Fibroblast growth factor receptor 3 (FGFR3) influences a diverse array of biological processes, including cell growth, differentiation, and migration...
  34. Rannan Eliya S, Taylor I, De Heer I, van den Ouweland A, Wall S, Wilkie A. Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. Hum Genet. 2004;115:200-7 pubmed
    Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c...
  35. Masih Khan E, Trudel S, Heise C, Li Z, Paterson J, Nadeem V, et al. MIP-1alpha (CCL3) is a downstream target of FGFR3 and RAS-MAPK signaling in multiple myeloma. Blood. 2006;108:3465-71 pubmed
    Overexpression of fibroblast growth factor receptor 3 (FGFR3) is a hallmark of t(4;14) multiple myeloma (MM)...
  36. Toydemir R, Brassington A, Bayrak Toydemir P, Krakowiak P, Jorde L, Whitby F, et al. A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet. 2006;79:935-41 pubmed
    Activating mutations of FGFR3, a negative regulator of bone growth, are well known to cause a variety of short-limbed bone dysplasias and craniosynostosis syndromes...
  37. Scotet E, Houssaint E. The choice between alternative IIIb and IIIc exons of the FGFR-3 gene is not strictly tissue-specific. Biochim Biophys Acta. 1995;1264:238-42 pubmed
    ..This is in contrast with the strictly exclusive alternative choice between IIIb or IIIc exons of the FGFR-2 gene: epithelial cells make only the IIIb choice while fibroblastic cells make only the IIIc choice. ..
  38. Bonaventure J, Gibbs L, Horne W, Baron R. The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor. FEBS J. 2007;274:3078-93 pubmed
    Recurrent missense fibroblast growth factor receptor 3 (FGFR3) mutations have been ascribed to skeletal dysplasias of variable severity including the lethal neonatal thanatophoric dysplasia types I (TDI) and II (TDII)...
  39. Tomlinson D, Baldo O, Harnden P, Knowles M. FGFR3 protein expression and its relationship to mutation status and prognostic variables in bladder cancer. J Pathol. 2007;213:91-8 pubmed
    b>FGFR3 is frequently activated by mutation in urothelial carcinoma (UC) and represents a potential target for therapy. In multiple myeloma, both over-expression and mutation of FGFR3 contribute to tumour development...
  40. Velinov M, Slaugenhaupt S, Stoilov I, Scott C, Gusella J, Tsipouras P. The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nat Genet. 1994;6:314-7 pubmed
    ..3), by family linkage studies using 14 pedigrees. A positive lod score of z = 3.35 with no recombinants was obtained with an intragenic marker for IDUA. This localization will facilitate the positional cloning of the disease gene...
  41. Bellus G, Spector E, Speiser P, Weaver C, Garber A, Bryke C, et al. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. Am J Hum Genet. 2000;67:1411-21 pubmed
    The fibroblast growth factor-receptor 3 (FGFR3) Lys650 codon is located within a critical region of the tyrosine kinase-domain activation loop...
  42. He L, Shobnam N, Wimley W, Hristova K. FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. J Biol Chem. 2011;286:13272-81 pubmed publisher
    The G380R mutation in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) causes achondroplasia, the most common form of human dwarfism...
  43. Lievens P, Liboi E. The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum. J Biol Chem. 2003;278:17344-9 pubmed
    The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes constitutive tyrosine kinase activity of the receptor and is associated to the lethal skeletal disorder, thanatophoric dysplasia type II (TDII)...
  44. Hafner C, Stoehr R, van Oers J, Zwarthoff E, Hofstaedter F, Landthaler M, et al. FGFR3 and PIK3CA mutations are involved in the molecular pathogenesis of solar lentigo. Br J Dermatol. 2009;160:546-51 pubmed publisher
    ..However, little is known about the genetic basis of SL. In human SK, FGFR3 and PIK3CA mutations have recently been identified. To analyse SL for potential FGFR3 and PIK3CA mutations...
  45. Kompier L, van der Aa M, Lurkin I, Vermeij M, Kirkels W, Bangma C, et al. The development of multiple bladder tumour recurrences in relation to the FGFR3 mutation status of the primary tumour. J Pathol. 2009;218:104-12 pubmed publisher
    ..Consequently, prolonged and costly surveillance by cystoscopy is required. Mutations in the FGFR3 oncogene are common in NMI-BCs and are associated with a lower chance of progression to muscle-invasive disease...
  46. Sonvilla G, Allerstorfer S, Heinzle C, Stättner S, Karner J, Klimpfinger M, et al. Fibroblast growth factor receptor 3-IIIc mediates colorectal cancer growth and migration. Br J Cancer. 2010;102:1145-56 pubmed publisher
    Deregulation of fibroblast growth factor receptor 3 (FGFR3) is involved in several malignancies. Its role in colorectal cancer has not been assessed before...
  47. van Rhijn B, van der Kwast T, Vis A, Kirkels W, Boevé E, Jöbsis A, et al. FGFR3 and P53 characterize alternative genetic pathways in the pathogenesis of urothelial cell carcinoma. Cancer Res. 2004;64:1911-4 pubmed
    b>Fibroblast growth factor receptor 3 (FGFR3) and P53 mutations are frequently observed in bladder cancer. We here describe the distribution of FGFR3 mutations and P53 overexpression in 260 primary urothelial cell carcinomas...
  48. van Rhijn B, van der Kwast T, Liu L, Fleshner N, Bostrom P, Vis A, et al. The FGFR3 mutation is related to favorable pT1 bladder cancer. J Urol. 2012;187:310-4 pubmed publisher
    ..b>FGFR3 mutations are linked to favorable (low grade/stage) pTa bladder cancer while altered P53 is common in cases of ..
  49. Hernandez S, Lopez Knowles E, Lloreta J, Kogevinas M, Jaramillo R, Amorós A, et al. FGFR3 and Tp53 mutations in T1G3 transitional bladder carcinomas: independent distribution and lack of association with prognosis. Clin Cancer Res. 2005;11:5444-50 pubmed
    b>FGFR3 and Tp53 mutations have been proposed as defining two alternative pathways in the pathogenesis of transitional bladder cancer. FGFR3 mutations are associated with low-grade tumors and a favorable prognosis...
  50. Parker B, Annala M, Cogdell D, Granberg K, Sun Y, Ji P, et al. The tumorigenic FGFR3-TACC3 gene fusion escapes miR-99a regulation in glioblastoma. J Clin Invest. 2013;123:855-65 pubmed publisher
    ..We performed whole transcriptome sequencing to identify fusion genes in glioma and discovered FGFR3-TACC3 fusions in 4 of 48 glioblastoma samples from patients both of mixed European and of Asian descent, but not ..
  51. Benoist Lasselin C, Gibbs L, Heuertz S, Odent T, Munnich A, Legeai Mallet L. Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias. FEBS Lett. 2007;581:2593-8 pubmed
    Achondroplasia and thanatophoric dysplasia are human chondrodysplasias caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene...
  52. Tomlinson D, Hurst C, Knowles M. Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. Oncogene. 2007;26:5889-99 pubmed
    ..low-grade non-invasive papillary urothelial cell carcinomas contain activating point mutations of fibroblast growth factor receptor 3 (FGFR3)...
  53. Intini D, Baldini L, Fabris S, Lombardi L, Ciceri G, Maiolo A, et al. Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14). Br J Haematol. 2001;114:362-4 pubmed
    The t(4;14)(p16.3;q32) in multiple myeloma (MM) leads to an apparent deregulation of the FGFR3 and WHSC1/MMSET genes...
  54. Lowry R, Jabs E, Graham G, Gerritsen J, Fleming J. Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. Am J Med Genet. 2001;104:112-9 pubmed
    A unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was initially reported by Bellus et al. [1996: Nat Genet 14:174-176] and the phenotype subsequently by Muenke et al...
  55. Hernandez S, Lopez Knowles E, Lloreta J, Kogevinas M, Amorós A, Tardon A, et al. Prospective study of FGFR3 mutations as a prognostic factor in nonmuscle invasive urothelial bladder carcinomas. J Clin Oncol. 2006;24:3664-71 pubmed
    To determine the frequency and the prognostic value of fibroblast growth factor receptor 3 (FGFR3) mutations in patients with nonmuscle invasive bladder tumors according to tumor stage and grade...
  56. Lindgren D, Liedberg F, Andersson A, Chebil G, Gudjonsson S, Borg A, et al. Molecular characterization of early-stage bladder carcinomas by expression profiles, FGFR3 mutation status, and loss of 9q. Oncogene. 2006;25:2685-96 pubmed
    We used gene expression profiling, mutation analyses of FGFR3 and TP53, and LOH analyses of chromosome 9 and the TP53 region on chromosome arm 17p, to molecularly characterize 75 Ta and T1 bladder carcinomas...
  57. Moloney D, Wall S, Ashworth G, Oldridge M, Glass I, Francomano C, et al. Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet. 1997;349:1059-62 pubmed
    The C749G (Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis...
  58. Meyer A, Gastwirt R, Schlaepfer D, Donoghue D. The cytoplasmic tyrosine kinase Pyk2 as a novel effector of fibroblast growth factor receptor 3 activation. J Biol Chem. 2004;279:28450-7 pubmed
    Activating mutations within fibroblast growth factor receptor 3 (FGFR3), a receptor tyrosine kinase, are responsible for human skeletal dysplasias including achondroplasia and the neonatal lethal syndromes thanatophoric dysplasia types I ..
  59. Murgue B, Tsunekawa S, Rosenberg I, deBeaumont M, Podolsky D. Identification of a novel variant form of fibroblast growth factor receptor 3 (FGFR3 IIIb) in human colonic epithelium. Cancer Res. 1994;54:5206-11 pubmed
    ..This putative receptor was found to be identical to the human fibroblast growth factor receptor 3 (FGFR3) except for a region of 150 nucleotides (50 amino acids) encoding the presumptive ligand-..
  60. Tavormina P, Rimoin D, Cohn D, Zhu Y, Shiang R, Wasmuth J. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet. 1995;4:2175-7 pubmed
  61. Sibley K, Cuthbert Heavens D, Knowles M. Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. Oncogene. 2001;20:686-91 pubmed
    ..One candidate within this region is fibroblast growth factor receptor 3 (FGFR3)...
  62. Bakkar A, Wallerand H, Radvanyi F, Lahaye J, Pissard S, Lecerf L, et al. FGFR3 and TP53 gene mutations define two distinct pathways in urothelial cell carcinoma of the bladder. Cancer Res. 2003;63:8108-12 pubmed
    b>FGFR3 and TP53 mutations are frequent in superficial papillary and invasive disease, respectively...
  63. Rebouissou S, Hérault A, Letouze E, Neuzillet Y, Laplanche A, Ofualuka K, et al. CDKN2A homozygous deletion is associated with muscle invasion in FGFR3-mutated urothelial bladder carcinoma. J Pathol. 2012;227:315-24 pubmed publisher
    ..We investigated the role of CDKN2A deletion in urothelial carcinogenesis, as a function of FGFR3 mutation status, a marker for one of the two pathways of bladder tumour progression, the Ta pathway...
  64. Bellus G, Gaudenz K, Zackai E, Clarke L, Szabo J, Francomano C, et al. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet. 1996;14:174-6 pubmed
    ..We report a recurrent single point mutation in the FGFR3 gene, located on chromosome 4p, in ten unrelated families with craniosynostosis syndromes...
  65. Hernandez S, Toll A, Baselga E, Ribe A, Azua Romeo J, Pujol R, et al. Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors. J Invest Dermatol. 2007;127:1664-6 pubmed
    ..Based on the occurrence of fibroblast growth factor receptor 3 (FGFR3) mutations in seborrheic keratosis and urothelial carcinomas (UC), and the identification of ..
  66. Hafner C, van Oers J, Vogt T, Landthaler M, Stoehr R, Blaszyk H, et al. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest. 2006;116:2201-2207 pubmed
    ..Germline mutations of the FGF receptor 3 (FGFR3) cause autosomal dominant skeletal disorders such as achondroplasia and thanatophoric dysplasia, which can be ..
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    ..Bladder tumors constitute a very heterogeneous disease. Superficial tumors are characterized by a high prevalence of FGFR3 mutations and chromosome 9 alterations...
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    ..b>FGFR3 mutations are common findings in bladder tumours and are associated with a good prognosis...
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    ..In cells expressing FGFR2 or FGFR3, sorting of FGF1 to lysosomes was somewhat less efficient than that observed for FGFR1...
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    ..b>FGFR3 was identified as the major family member expressed in both normal human urothelium and cultured normal human ..
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    Amino acid substitutions at the Lys-650 codon within the activation loop kinase domain of fibroblast growth factor receptor 3 (FGFR3) result in graded constitutive phosphorylation of the receptor...
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    ..3 by linkage analyses. The ACH candidate region includes the gene encoding fibroblast growth factor receptor 3 (FGFR3), which was originally considered as a candidate for the Huntington's disease gene...
  73. Muenke M, Gripp K, McDonald McGinn D, Gaudenz K, Whitaker L, Bartlett S, et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet. 1997;60:555-64 pubmed
    ..is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p...
  74. Volynsky P, Polyansky A, Fakhrutdinova G, Bocharov E, Efremov R. Role of dimerization efficiency of transmembrane domains in activation of fibroblast growth factor receptor 3. J Am Chem Soc. 2013;135:8105-8 pubmed publisher
    ..molecular mechanism of effect of G380R and A391E mutations on dimerization of TM domains of human fibroblast growth factor receptor 3 (FGFR3)...
  75. Kiemeney L, Sulem P, Besenbacher S, Vermeulen S, Sigurdsson A, Thorleifsson G, et al. A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. Nat Genet. 2010;42:415-9 pubmed publisher
    ..24, P = 9.9 x 10(-12)). rs798766 is located in an intron of TACC3, 70 kb from FGFR3, which often harbors activating somatic mutations in low-grade, noninvasive UBC...
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    ..translocation occurs in 25% of multiple myeloma (MM) and results in both the ectopic expression of fibroblast growth factor receptor 3 (FGFR3) from der4 and immunoglobulin heavy chain-MMSET hybrid messenger RNA transcripts from der14...
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    b>Fibroblast growth factor receptor 3 (FGFR3) transduces biochemical signals via lateral dimerization in the plasma membrane, and plays an important role in human development and disease...
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    ..Here, we describe the oncogenic nature of mutations observed in FGFR2 and FGFR3, each of which are observed in 3% of samples, for a mutation rate of 6% across both genes...
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    b>Fibroblast growth factor receptor 3 (FGFR3) is one of four high-affinity tyrosine kinase receptors for the FGF family of ligands, frequently associated with growth arrest and induction of differentiation...
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    ..Importantly, comparison of the three FGF1-FGFR structures shows that the flexibility of the betaC'-betaE loop is a major determinant of ligand-binding specificity and promiscuity. ..
  81. Legeai Mallet L, Benoist Lasselin C, Munnich A, Bonaventure J. Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias. Bone. 2004;34:26-36 pubmed
    ..TD) are human skeletal disorders of increasing severity accounted for by mutations in the fibroblast growth factor receptor 3 (FGFR3)...
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    Overexpression of FGF receptor 3 (FGFR3) is implicated in the development of t(4;14)-positive multiple myeloma...
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    We have previously demonstrated that the expression of FGFR3 is frequently downregulated in colorectal carcinoma cells...
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    b>Fibroblast growth factor receptor 3 (FGFR3) mutations have been associated with achondroplastic syndromes and urinary bladder carcinomas...
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    b>FGFR3 is a receptor tyrosine kinase (RTK) of the FGF receptor family, known to have a negative regulatory effect on long bone growth...
  86. Li E, You M, Hristova K. FGFR3 dimer stabilization due to a single amino acid pathogenic mutation. J Mol Biol. 2006;356:600-12 pubmed
    ..An example of a TM domain pathogenic mutation is the Ala391-->Glu mutation in fibroblast growth factor receptor 3 (FGFR3), linked to Crouzon syndrome with acanthosis nigricans, as well as to bladder cancer...
  87. Mhawech Fauceglia P, Cheney R, Fischer G, Beck A, Herrmann F. FGFR3 and p53 protein expressions in patients with pTa and pT1 urothelial bladder cancer. Eur J Surg Oncol. 2006;32:231-7 pubmed
    This study is designed to evaluate the expression and prognostic value of FGFR3 protein expression in patients with pTa/pT1 tumours and to determine the significance of the combinations of FGFR3 and p53 protein expressions in bladder ..
  88. Trudel S, Stewart A, Rom E, Wei E, Li Z, Kotzer S, et al. The inhibitory anti-FGFR3 antibody, PRO-001, is cytotoxic to t(4;14) multiple myeloma cells. Blood. 2006;107:4039-46 pubmed
    The association of fibroblast growth factor receptor 3 (FGFR3) expression with t(4;14) multiple myeloma (MM) and the demonstration of the transforming potential of this receptor tyrosine kinase (RTK) make it a particularly attractive ..
  89. Zhang X, Ibrahimi O, Olsen S, Umemori H, Mohammadi M, Ornitz D. Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family. J Biol Chem. 2006;281:15694-700 pubmed
    ..This study completes the mitogenesis-based comparison of receptor specificity of the entire FGF family under standard conditions and should help in interpreting and predicting in vivo biological activity. ..