fibroblast growth factor receptor 1
The FGFR1 gene encodes an fibroblast growth factor receptor that bind various fibroblast growth factors. In particular the binding of FGF23 in tandem with klotho starts a signal cascade that is essential to phosphate homeostasis. Activating mutations lead to autosomal dominant osteoglophonic dysplasia. Moreover mutations are associated with Pfeiffer syndrome, Jackson-Weiss syndrome, and Antley-Bixler syndrome.
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References:
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Welm BE et al. (2002) Inducible dimerization of FGFR1: development of a mouse model to analyze progressive transformation of the mammary gland.
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Siffroi-Fernandez S et al. (2005) Acidic fibroblast growth factor (FGF-1) and FGF receptor 1 signaling in human Y79 retinoblastoma.
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None (2004) Common and distinct elements in cellular signaling via EGF and FGF receptors.
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4. |
Bruno IG et al. (2004) Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements.
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5. |
Grand EK et al. (2004) Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome.
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6. |
Dell'Era P et al. (2003) Fibroblast growth factor receptor-1 is essential for in vitro cardiomyocyte development.
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7. |
Trokovic N et al. (2003) Fgfr1 regulates patterning of the pharyngeal region.
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8. |
Wilkie AO et al. (2002) FGFs, their receptors, and human limb malformations: clinical and molecular correlations.
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9. |
Pirvola U et al. (2002) FGFR1 is required for the development of the auditory sensory epithelium.
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10. |
Kim HG et al. (2005) Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
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11. |
Demiroglu A et al. (2001) The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins.
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12. |
Sohal J et al. (2001) Identification of four new translocations involving FGFR1 in myeloid disorders.
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13. |
Wilkie AO et al. (2001) Genetics of craniofacial development and malformation.
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14. |
Kress W et al. (2000) An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.
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15. |
Zhou YX et al. (2000) A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures.
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16. |
Roscioli T et al. (2000) Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
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17. |
Plotnikov AN et al. (2000) Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity.
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18. |
Neugebauer JM et al. (2009) FGF signalling during embryo development regulates cilia length in diverse epithelia.
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19. |
Ding BS et al. (2014) Divergent angiocrine signals from vascular niche balance liver regeneration and fibrosis.
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20. |
Simonis N et al. (2013) FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
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21. |
Miraoui H et al. (2013) Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
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22. |
Hanchate NK et al. (2012) SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
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23. |
Tornberg J et al. (2011) Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
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24. |
Calvert JA et al. (2011) A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice.
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25. |
Raivio T et al. (2009) Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
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26. |
Vilain C et al. (2009) Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review.
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27. |
Huang N et al. (2005) Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
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28. |
Magnusson PU et al. (2007) FGFR-1 regulates angiogenesis through cytokines interleukin-4 and pleiotrophin.
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29. |
Pitteloud N et al. (2007) Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
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30. |
Xu N et al. (2007) A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism.
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31. |
Pitteloud N et al. (2006) Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
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32. |
Furdui CM et al. (2006) Autophosphorylation of FGFR1 kinase is mediated by a sequential and precisely ordered reaction.
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33. |
Sato N et al. (2006) Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son.
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34. |
Rand V et al. (2005) Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas.
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35. |
Falardeau J et al. (2008) Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
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36. |
Farrow EG et al. (2006) Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.
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37. |
White KE et al. (2005) Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.
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38. |
Riminucci M et al. (2003) FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting.
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39. |
Beighton P et al. (1980) Osteoglophonic dwarfism.
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40. |
Urakawa I et al. (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23.
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41. |
Trarbach EB et al. (2006) Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.
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42. |
Dodé C et al. (2003) Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
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43. |
Jones DT et al. (2013) Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.
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44. |
Guasch G et al. (2000) FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33).
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45. |
Jung J et al. (1999) Initiation of mammalian liver development from endoderm by fibroblast growth factors.
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46. |
Riley BM et al. (2007) Impaired FGF signaling contributes to cleft lip and palate.
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47. |
Ibrahimi OA et al. (2004) Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.
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48. |
Passos-Bueno MR et al. (1999) Clinical spectrum of fibroblast growth factor receptor mutations.
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49. |
Chesi M et al. (1997) 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.
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50. |
Singh D et al. (2012) Transforming fusions of FGFR and TACC genes in human glioblastoma.
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51. |
Hurley ME et al. (2004) Antley-Bixler syndrome with radioulnar synostosis.
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52. |
Ruta M et al. (1989) Receptor for acidic fibroblast growth factor is related to the tyrosine kinase encoded by the fms-like gene (FLG).
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53. |
Seminara SB et al. (2000) Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations.
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54. |
Plotnikov AN et al. (1999) Structural basis for FGF receptor dimerization and activation.
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55. |
Popovici C et al. (1999) The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1.
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56. |
Kulkarni S et al. (1999) The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome.
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57. |
Partanen J et al. (1998) Opposite phenotypes of hypomorphic and Y766 phosphorylation site mutations reveal a function for Fgfr1 in anteroposterior patterning of mouse embryos.
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58. |
Popovici C et al. (1998) Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13).
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59. |
Twigg SR et al. (1998) Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.
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60. |
Xiao S et al. (1998) FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome.
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61. |
Lorenzi MV et al. (1996) FRAG1, a gene that potently activates fibroblast growth factor receptor by C-terminal fusion through chromosomal rearrangement.
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62. |
Wang LY et al. (1996) A natural kinase-deficient variant of fibroblast growth factor receptor 1.
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63. |
Robin NH et al. (1994) Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity.
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64. |
Muenke M et al. (1994) A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
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65. |
Wood S et al. (1995) Sequence identity locates CEBPD and FGFR1 to mapped human loci within proximal 8p.
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66. |
White BJ et al. (1983) The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review.
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67. |
Lee PL et al. (1989) Purification and complementary DNA cloning of a receptor for basic fibroblast growth factor.
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NCBI article
NCBI 2260
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69. |
OMIM.ORG article
Omim 136350
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70. |
Orphanet article
Orphanet ID 121802
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Wikipedia article
Wikipedia EN (Fibroblast_growth_factor_receptor_1)
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Update: Aug. 14, 2020