메뉴 건너뛰기




Volumn 9, Issue 1, 2014, Pages

A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation

Author keywords

[No Author keywords available]

Indexed keywords

2 (2 AMINO 3 METHOXYPHENYL)CHROMONE; 4 (4 FLUOROPHENYL) 2 (4 METHYLSULFINYLPHENYL) 5 (4 PYRIDYL)IMIDAZOLE; FIBROBLAST GROWTH FACTOR RECEPTOR 2; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; MITOGEN ACTIVATED PROTEIN KINASE P38;

EID: 84900305191     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0087311     Document Type: Article
Times cited : (27)

References (46)
  • 1
    • 0032938128 scopus 로고    scopus 로고
    • A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors
    • DOI 10.1093/hmg/8.1.35
    • Li C, Chen L, Iwata T, Kitagawa M, Fu XY, et al. (1999) A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors. Hum Mol Genet 8: 35-44. (Pubitemid 29039046)
    • (1999) Human Molecular Genetics , vol.8 , Issue.1 , pp. 35-44
    • Li, C.1    Chen, L.2    Iwata, T.3    Kitagawa, M.4    Fu, X.-Y.5    Deng, C.-X.6
  • 2
    • 0029132035 scopus 로고
    • Fibroblast-growth-factor receptor mutations in human skeletal disorders
    • Muenke M, Schell U (1995) Fibroblast-growth-factor receptor mutations in human skeletal disorders. Trends Genet 11: 308-313.
    • (1995) Trends Genet , vol.11 , pp. 308-313
    • Muenke, M.1    Schell, U.2
  • 3
    • 77952523094 scopus 로고    scopus 로고
    • Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis
    • Su N, Sun Q, Li C, Lu X, Qi H, et al. (2010) Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis. Hum Mol Genet 19: 1199-1210.
    • (2010) Hum Mol Genet , vol.19 , pp. 1199-1210
    • Su, N.1    Sun, Q.2    Li, C.3    Lu, X.4    Qi, H.5
  • 4
    • 0027522002 scopus 로고
    • Skeletal abnormalities in the Apert syndrome
    • Cohen MM Jr, Kreiborg S (1993) Skeletal abnormalities in the Apert syndrome. Am J Med Genet 47: 624-632.
    • (1993) Am J Med Genet , vol.47 , pp. 624-632
    • Cohen Jr., M.M.1    Kreiborg, S.2
  • 5
    • 0024259069 scopus 로고
    • Craniosynostosis update 1987
    • Cohen MM Jr (1988) Craniosynostosis update 1987. Am J Med Genet Suppl 4: 99-148.
    • (1988) Am J Med Genet Suppl , vol.4 , pp. 99-148
    • Cohen Jr., M.M.1
  • 7
    • 0035957378 scopus 로고    scopus 로고
    • Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to apert syndrome-like phenotypes
    • DOI 10.1073/pnas.081082498
    • Yu K, Ornitz DM (2001) Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes. Proc Natl Acad Sci U S A 98: 3641-3643. (Pubitemid 32249823)
    • (2001) Proceedings of the National Academy of Sciences of the United States of America , vol.98 , Issue.7 , pp. 3641-3643
    • Yu, K.1    Ornitz, D.M.2
  • 10
    • 79952698205 scopus 로고    scopus 로고
    • The primary site of the acrocephalic feature in Apert Syndrome is a dwarf cranial base with accelerated chondrocytic differentiation due to aberrant activation of the FGFR2 signaling
    • Nagata M, Nuckolls GH, Wang X, Shum L, Seki Y, et al. (2011) The primary site of the acrocephalic feature in Apert Syndrome is a dwarf cranial base with accelerated chondrocytic differentiation due to aberrant activation of the FGFR2 signaling. Bone 48: 847-856.
    • (2011) Bone , vol.48 , pp. 847-856
    • Nagata, M.1    Nuckolls, G.H.2    Wang, X.3    Shum, L.4    Seki, Y.5
  • 11
    • 40949140612 scopus 로고    scopus 로고
    • A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis
    • Yin L, Du X, Li C, Xu X, Chen Z, et al. (2008) A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. Bone 42: 631-643.
    • (2008) Bone , vol.42 , pp. 631-643
    • Yin, L.1    Du, X.2    Li, C.3    Xu, X.4    Chen, Z.5
  • 12
    • 33846566729 scopus 로고    scopus 로고
    • Fibroblast growth factor expression in the postnatal growth plate
    • DOI 10.1016/j.bone.2006.10.013, PII S8756328206007897
    • Lazarus JE, Hegde A, Andrade AC, Nilsson O, Baron J (2007) Fibroblast growth factor expression in the postnatal growth plate. Bone 40: 577-586. (Pubitemid 46187233)
    • (2007) Bone , vol.40 , Issue.3 , pp. 577-586
    • Lazarus, J.E.1    Hegde, A.2    Andrade, A.C.3    Nilsson, O.4    Baron, J.5
  • 13
    • 0043208839 scopus 로고    scopus 로고
    • Fgfr mRNA isoforms in craniofacial bone development
    • DOI 10.1016/S8756-3282(03)00163-7
    • Rice DP, Rice R, Thesleff I (2003) Fgfr mRNA isoforms in craniofacial bone development. Bone 33: 14-27. (Pubitemid 36952684)
    • (2003) Bone , vol.33 , Issue.1 , pp. 14-27
    • Rice, D.P.C.1    Rice, R.2    Thesleff, I.3
  • 14
    • 64149095856 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 2 promotes osteogenic differentiation in mesenchymal cells via ERK1/2 and protein kinase C signaling
    • Miraoui H, Oudina K, Petite H, Tanimoto Y, Moriyama K, et al. (2009) Fibroblast growth factor receptor 2 promotes osteogenic differentiation in mesenchymal cells via ERK1/2 and protein kinase C signaling. J Biol Chem 284: 4897-4904.
    • (2009) J Biol Chem , vol.284 , pp. 4897-4904
    • Miraoui, H.1    Oudina, K.2    Petite, H.3    Tanimoto, Y.4    Moriyama, K.5
  • 15
    • 0035081241 scopus 로고    scopus 로고
    • Fibroblast growth factors
    • REVIEWS3005
    • Ornitz DM, Itoh N (2001) Fibroblast growth factors. Genome Biol 2: REVIEWS3005.
    • (2001) Genome Biol , vol.2
    • Ornitz, D.M.1    Itoh, N.2
  • 16
    • 77649302376 scopus 로고    scopus 로고
    • Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice
    • Wang Y, Sun M, Uhlhorn VL, Zhou X, Peter I, et al. (2010) Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice. BMC Dev Biol 10: 22.
    • (2010) BMC Dev Biol , vol.10 , pp. 22
    • Wang, Y.1    Sun, M.2    Uhlhorn, V.L.3    Zhou, X.4    Peter, I.5
  • 17
    • 0034630504 scopus 로고    scopus 로고
    • The Ser252Trp fibroblast growth factor receptor-2 (FGFR-2) mutation induces PKC-independent downregulation of FGFR-2 associated with premature calvaria osteoblast differentiation
    • DOI 10.1006/excr.2000.4820
    • Lemonnier J, Delannoy P, Hott M, Lomri A, Modrowski D, et al. (2000) The Ser252Trp fibroblast growth factor receptor-2 (FGFR-2) mutation induces PKC-independent downregulation of FGFR-2 associated with premature calvaria osteoblast differentiation. Exp Cell Res 256: 158-167. (Pubitemid 30211178)
    • (2000) Experimental Cell Research , vol.256 , Issue.1 , pp. 158-167
    • Lemonnier, J.1    Delannoy, P..2    Hott, M.3    Lomri, A.4    Modrowski, D.5    Marie, P.J.6
  • 18
    • 0037097976 scopus 로고    scopus 로고
    • FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
    • DOI 10.1101/gad.990702
    • Ornitz DM, Marie PJ (2002) FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 16: 1446-1465. (Pubitemid 34686327)
    • (2002) Genes and Development , vol.16 , Issue.12 , pp. 1446-1465
    • Ornitz, D.M.1    Marie, P.J.2
  • 19
    • 0141678494 scopus 로고    scopus 로고
    • A Ser250Trp substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis
    • DOI 10.1016/S8756-3282(03)00222-9
    • Chen L, Li D, Li C, Engel A, Deng CX (2003) A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis. Bone 33: 169-178. (Pubitemid 37117129)
    • (2003) Bone , vol.33 , Issue.2 , pp. 169-178
    • Chen, L.1    Li, D.2    Li, C.3    Engel, A.4    Deng, C.-X.5
  • 22
    • 53349147034 scopus 로고    scopus 로고
    • Gain-of-function mutation of FGFR3 results in impaired fracture healing due to inhibition of chondrocyte differentiation
    • Su N, Yang J, Xie Y, Du X, Lu X, et al. (2008) Gain-of-function mutation of FGFR3 results in impaired fracture healing due to inhibition of chondrocyte differentiation. Biochem Biophys Res Commun 376: 454-459.
    • (2008) Biochem Biophys Res Commun , vol.376 , pp. 454-459
    • Su, N.1    Yang, J.2    Xie, Y.3    Du, X.4    Lu, X.5
  • 23
    • 0031019174 scopus 로고    scopus 로고
    • Localization and quantification of proliferating cells during rat fracture repair: Detection of proliferating cell nuclear antigen by immunohistochemistry
    • DOI 10.1359/jbmr.1997.12.1.96
    • Iwaki A, Jingushi S, Oda Y, Izumi T, Shida JI, et al. (1997) Localization and quantification of proliferating cells during rat fracture repair: detection of proliferating cell nuclear antigen by immunohistochemistry. J Bone Miner Res 12: 96-102. (Pubitemid 27053617)
    • (1997) Journal of Bone and Mineral Research , vol.12 , Issue.1 , pp. 96-102
    • Iwaki, A.1    Jingushi, S.2    Oda, Y.3    Izumi, T.4    Shida, J.-I.5    Tsuneyoshi, M.6    Sugioka, Y.7
  • 25
    • 84870849268 scopus 로고    scopus 로고
    • A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia
    • Jin M, Yu Y, Qi H, Xie Y, Su N, et al. (2012) A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia. Hum Mol Genet 21: 5443-5455.
    • (2012) Hum Mol Genet , vol.21 , pp. 5443-5455
    • Jin, M.1    Yu, Y.2    Qi, H.3    Xie, Y.4    Su, N.5
  • 26
    • 0035263614 scopus 로고    scopus 로고
    • 365>Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates lhh/PTHrP signals and causes severe achondroplasia
    • Chen L, Li C, Qiao W, Xu X, Deng C (2001) A Ser(365)->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. Hum Mol Genet 10: 457-465. (Pubitemid 32181668)
    • (2001) Human Molecular Genetics , vol.10 , Issue.5 , pp. 457-465
    • Chen, L.1    Li, C.2    Qiao, W.3    Xu, X.4    Deng, C.5
  • 28
    • 0038782306 scopus 로고    scopus 로고
    • Conditional inactivation of FGF receptor 2 reveals an essential role for FGF signaling in the regulation of osteoblast function and bone growth
    • DOI 10.1242/dev.00491
    • Yu K, Xu J, Liu Z, Sosic D, Shao J, et al. (2003) Conditional inactivation of FGF receptor 2 reveals an essential role for FGF signaling in the regulation of osteoblast function and bone growth. Development 130: 3063-3074. (Pubitemid 36857252)
    • (2003) Development , vol.130 , Issue.13 , pp. 3063-3074
    • Yu, K.1    Xu, J.2    Liu, Z.3    Sosic, D.4    Shao, J.5    Olson, E.N.6    Towler, D.A.7    Ornitz, D.M.8
  • 29
    • 0034988303 scopus 로고    scopus 로고
    • Bone marrow stromal stem cells: Nature, biology, and potential applications
    • Bianco P, Riminucci M, Gronthos S, Robey PG (2001) Bone marrow stromal stem cells: nature, biology, and potential applications. Stem Cells 19: 180-192. (Pubitemid 32524539)
    • (2001) Stem Cells , vol.19 , Issue.3 , pp. 180-192
    • Bianco, P.1    Riminucci, M.2    Gronthos, S.3    Robey, P.G.4
  • 30
    • 34249686005 scopus 로고    scopus 로고
    • Osteogenic differentiation of human marrow-derived mesenchymal stem cells
    • Marie PJ, Fromigue O (2006) Osteogenic differentiation of human marrow-derived mesenchymal stem cells. Regen Med 1: 539-548.
    • (2006) Regen Med , vol.1 , pp. 539-548
    • Marie, P.J.1    Fromigue, O.2
  • 31
    • 36249021493 scopus 로고    scopus 로고
    • Concise review: Mesenchymal stem/multipotent stromal cells: The state of transdifferentiation and modes of tissue repair - Current views
    • DOI 10.1634/stemcells.2007-0637
    • Phinney DG, Prockop DJ (2007) Concise review: mesenchymal stem/multipotent stromal cells: the state of transdifferentiation and modes of tissue repair-current views. Stem Cells 25: 2896-2902. (Pubitemid 350127874)
    • (2007) Stem Cells , vol.25 , Issue.11 , pp. 2896-2902
    • Phinney, D.G.1    Prockop, D.J.2
  • 33
    • 0037184027 scopus 로고    scopus 로고
    • Fibroblast growth factor 2 induction of the osteocalcin gene requires MAPK activity and phosphorylation of the osteoblast transcription factor, Cbfa1/Runx2
    • Xiao G, Jiang D, Gopalakrishnan R, Franceschi RT (2002) Fibroblast growth factor 2 induction of the osteocalcin gene requires MAPK activity and phosphorylation of the osteoblast transcription factor, Cbfa1/Runx2. J Biol Chem 277: 36181-36187.
    • (2002) J Biol Chem , vol.277 , pp. 36181-36187
    • Xiao, G.1    Jiang, D.2    Gopalakrishnan, R.3    Franceschi, R.T.4
  • 36
    • 0034640848 scopus 로고    scopus 로고
    • Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts
    • DOI 10.1083/jcb.149.6.1297
    • Mansukhani A, Bellosta P, Sahni M, Basilico C (2000) Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts. J Cell Biol 149: 1297-1308. (Pubitemid 30399682)
    • (2000) Journal of Cell Biology , vol.149 , Issue.6 , pp. 1297-1308
    • Mansukhani, A.1    Bellosta, P.2    Sahni, M.3    Basilico, C.4
  • 37
    • 0030885841 scopus 로고    scopus 로고
    • Fibroblast growth factor-2 supports ex vivo expansion and maintenance of osteogenic precursors from human bone marrow
    • DOI 10.1210/en.138.10.4456
    • Martin I, Muraglia A, Campanile G, Cancedda R, Quarto R (1997) Fibroblast growth factor-2 supports ex vivo expansion and maintenance of osteogenic precursors from human bone marrow. Endocrinology 138: 4456-4462. (Pubitemid 27408494)
    • (1997) Endocrinology , vol.138 , Issue.10 , pp. 4456-4462
    • Martin, I.1    Muraglia, A.2    Campanile, G.3    Cancedda, R.4    Quarto, R.5
  • 38
    • 16844363879 scopus 로고    scopus 로고
    • Sox2 induction by FGF and FGFR2 activating mutations inhibits Wnt signaling and osteoblast differentiation
    • Mansukhani A, Ambrosetti D, Holmes G, Cornivelli L, Basilico C (2005) Sox2 induction by FGF and FGFR2 activating mutations inhibits Wnt signaling and osteoblast differentiation. J Cell Biol 168: 1065-1076.
    • (2005) J Cell Biol , vol.168 , pp. 1065-1076
    • Mansukhani, A.1    Ambrosetti, D.2    Holmes, G.3    Cornivelli, L.4    Basilico, C.5
  • 39
    • 33746900467 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 1 signaling in the osteo-chondrogenic cell lineage regulates sequential steps of osteoblast maturation
    • DOI 10.1016/j.ydbio.2006.05.031, PII S0012160606008700
    • Jacob AL, Smith C, Partanen J, Ornitz DM (2006) Fibroblast growth factor receptor 1 signaling in the osteo-chondrogenic cell lineage regulates sequential steps of osteoblast maturation. Dev Biol 296: 315-328. (Pubitemid 44189342)
    • (2006) Developmental Biology , vol.296 , Issue.2 , pp. 315-328
    • Jacob, A.L.1    Smith, C.2    Partanen, J.3    Ornitz, D.M.4
  • 41
    • 0035058533 scopus 로고    scopus 로고
    • Role of N-cadherin and protein kinase C in osteoblast gene activation induced by the S252W fibroblast growth factor receptor 2 mutation in apert craniosynostosis
    • Lemonnier J, Hay E, Delannoy P, Lomri A, Modrowski D, et al. (2001) Role of N-cadherin and protein kinase C in osteoblast gene activation induced by the S252W fibroblast growth factor receptor 2 mutation in Apert craniosynostosis. J Bone Miner Res 16: 832-845. (Pubitemid 32332293)
    • (2001) Journal of Bone and Mineral Research , vol.16 , Issue.5 , pp. 832-845
    • Lemonnier, J.1    Hay, E.2    Delannoy, P.3    Lomri, A.4    Modrowski, D.5    Caverzasio, J.6    Marie, P.J.7
  • 42
    • 34548371795 scopus 로고    scopus 로고
    • RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis
    • DOI 10.1038/ng2096, PII NG2096
    • Shukla V, Coumoul X, Wang RH, Kim HS, Deng CX (2007) RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nat Genet 39: 1145-1150. (Pubitemid 47340648)
    • (2007) Nature Genetics , vol.39 , Issue.9 , pp. 1145-1150
    • Shukla, V.1    Coumoul, X.2    Wang, R.-H.3    Kim, H.-S.4    Deng, C.-X.5
  • 43
    • 38449096256 scopus 로고    scopus 로고
    • FGF signaling: Its role in bone development and human skeleton diseases
    • DOI 10.2741/2890
    • Su N, Du X, Chen L (2008) FGF signaling: its role in bone development and human skeleton diseases. Front Biosci 13: 2842-2865. (Pubitemid 351589202)
    • (2008) Frontiers in Bioscience , vol.13 , Issue.8 , pp. 2842-2865
    • Su, N.1    Du, X.2    Chen, L.3
  • 44
    • 0347717892 scopus 로고    scopus 로고
    • Activation of the ERK1/2 and p38 Mitogen-activated Protein Kinase Pathways Mediates Fibroblast Growth Factor-induced Growth Arrest of Chondrocytes
    • DOI 10.1074/jbc.M310384200
    • Raucci A, Laplantine E, Mansukhani A, Basilico C (2004) Activation of the ERK1/2 and p38 mitogen-activated protein kinase pathways mediates fibroblast growth factor-induced growth arrest of chondrocytes. J Biol Chem 279: 1747-1756. (Pubitemid 38084442)
    • (2004) Journal of Biological Chemistry , vol.279 , Issue.3 , pp. 1747-1756
    • Raucci, A.1    Laplantine, E.2    Mansukhani, A.3    Basilico, C.4
  • 45
    • 33947427924 scopus 로고    scopus 로고
    • p38 mitogen-activated protein kinase regulates osteoblast differentiation through osterix
    • DOI 10.1210/en.2006-1000
    • Wang X, Goh CH, Li B (2007) p38 mitogen-activated protein kinase regulates osteoblast differentiation through osterix. Endocrinology 148: 1629-1637. (Pubitemid 46457114)
    • (2007) Endocrinology , vol.148 , Issue.4 , pp. 1629-1637
    • Wang, X.1    Choon, H.G.2    Li, B.3
  • 46
    • 0034007869 scopus 로고    scopus 로고
    • Opposing role of mitogen-activated protein kinase subtypes, erk-1/2 and p38, in the regulation of chondrogenesis of mesenchymes
    • Oh CD, Chang SH, Yoon YM, Lee SJ, Lee YS, et al. (2000) Opposing role of mitogen-activated protein kinase subtypes, erk-1/2 and p38, in the regulation of chondrogenesis of mesenchymes. J Biol Chem 275: 5613-5619.
    • (2000) J Biol Chem , vol.275 , pp. 5613-5619
    • Oh, C.D.1    Chang, S.H.2    Yoon, Y.M.3    Lee, S.J.4    Lee, Y.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.