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Volumn 13, Issue 7-8, 2007, Pages 422-442

Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHATIDYLINOSITOL 3 KINASE; RNA; SERINE; TRYPTOPHAN;

EID: 34548492521     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.2119/2007-00027.Fanganiello     Document Type: Article
Times cited : (23)

References (31)
  • 1
    • 0026568156 scopus 로고
    • Birth prevalence study of the Apert syndrome
    • Cohen MM Jr et al. (1992) Birth prevalence study of the Apert syndrome. Am. J. Med. Genet. 42:655-9.
    • (1992) Am. J. Med. Genet , vol.42 , pp. 655-659
    • Cohen Jr, M.M.1
  • 2
    • 34548498047 scopus 로고    scopus 로고
    • Upton J, Zuker RM (eds) (1991) Clinics in plastic surgery. 18: Apert syndrome. WB Saunders, Philadelphia.
    • Upton J, Zuker RM (eds) (1991) Clinics in plastic surgery. Vol 18: Apert syndrome. WB Saunders, Philadelphia.
  • 3
    • 0029059280 scopus 로고
    • Analysis of phenotypic features and FGFR2 mutations in Apert syndrome
    • Park WJ et al. (1995) Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am. J. Hum. Genet. 57:321-8.
    • (1995) Am. J. Hum. Genet , vol.57 , pp. 321-328
    • Park, W.J.1
  • 4
    • 0029883637 scopus 로고    scopus 로고
    • Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome
    • Slaney SF, et al. (1996) Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am. J. Hum. Genet. 58:923-32.
    • (1996) Am. J. Hum. Genet , vol.58 , pp. 923-932
    • Slaney, S.F.1
  • 5
    • 0002421713 scopus 로고    scopus 로고
    • Syndromes with craniosynostosis
    • Cohen Jr MM, MacLean RE, eds, New York: Oxford University Press
    • Cohen MM Jr. (2000) Syndromes with craniosynostosis. In: Cohen Jr MM, MacLean RE. (eds) Craniosynostosis: Diagnosis, Evaluation, and Management. New York: Oxford University Press. 309-141.
    • (2000) Craniosynostosis: Diagnosis, Evaluation, and Management , pp. 309-141
    • Cohen Jr., M.M.1
  • 6
    • 0029983638 scopus 로고    scopus 로고
    • Exclusive paternal origin of new mutations in Apert syndrome
    • Moloney DM et al. (1996) Exclusive paternal origin of new mutations in Apert syndrome. Nat. Genet., 13:48-53.
    • (1996) Nat. Genet , vol.13 , pp. 48-53
    • Moloney, D.M.1
  • 7
    • 0028798546 scopus 로고
    • Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
    • Wilkie AO et al. (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat. Genet. 9:165-72.
    • (1995) Nat. Genet , vol.9 , pp. 165-172
    • Wilkie, A.O.1
  • 8
    • 0031683688 scopus 로고    scopus 로고
    • Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand
    • Anderson J, Burns HD, Enriquez-Harris P, Wilkie AO, Heath JK. (1998) Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. Hum. Mol. Genet. 7:1475-83.
    • (1998) Hum. Mol. Genet , vol.7 , pp. 1475-1483
    • Anderson, J.1    Burns, H.D.2    Enriquez-Harris, P.3    Wilkie, A.O.4    Heath, J.K.5
  • 9
    • 0034687699 scopus 로고    scopus 로고
    • Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome
    • Yu K, Herr AB, Waksman G, Ornitz DM. (2000) Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. Proc. Natl. Acad. Sci. U. S. A. 7:14536-11.
    • (2000) Proc. Natl. Acad. Sci. U. S. A , vol.7 , pp. 14536-14511
    • Yu, K.1    Herr, A.B.2    Waksman, G.3    Ornitz, D.M.4
  • 10
    • 1942470528 scopus 로고    scopus 로고
    • Kinetic model for FGF, FGFR, and proteoglycan signal transduction complex assembly
    • Ibrahimi OA, Zhang F, Hrstka SC, Mohammadi M, Linhardt RJ. (2004) Kinetic model for FGF, FGFR, and proteoglycan signal transduction complex assembly. Biochemistry. 43:4724-30.
    • (2004) Biochemistry , vol.43 , pp. 4724-4730
    • Ibrahimi, O.A.1    Zhang, F.2    Hrstka, S.C.3    Mohammadi, M.4    Linhardt, R.J.5
  • 11
    • 0032521181 scopus 로고    scopus 로고
    • Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome
    • Lomri A, Lemonnier J, Hott M, et al. (1998) Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. J. Clin. Invest. 101:1310-7.
    • (1998) J. Clin. Invest , vol.101 , pp. 1310-1317
    • Lomri, A.1    Lemonnier, J.2    Hott, M.3
  • 12
    • 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
    • Lemonnier J, Delannoy Ph, Hott M, Lomri A, Modrowski D, Marie PJ. (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. 256:158-67.
    • (2000) Exp. Cell Res , vol.256 , pp. 158-167
    • Lemonnier, J.1    Delannoy, P.2    Hott, M.3    Lomri, A.4    Modrowski, D.5    Marie, P.J.6
  • 13
    • 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
    • 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.
    • (2000) J. Cell Biol , vol.149 , pp. 1297-1308
    • Mansukhani, A.1    Bellosta, P.2    Sahni, M.3    Basilico, C.4
  • 14
    • 0035081456 scopus 로고    scopus 로고
    • Increased expression of protein kinase Calpha, interleukin-1 alpha, and RhoA guanosine 5′-triphosphatase in osteoblasts expressing the Ser252Trp fibroblast growth factor 2 receptor Apert mutation: Identification by analysis of complementary DNA microarray
    • Lomri A, Lemonnier J, Delannoy P, Marie PJ. (2001) Increased expression of protein kinase Calpha, interleukin-1 alpha, and RhoA guanosine 5′-triphosphatase in osteoblasts expressing the Ser252Trp fibroblast growth factor 2 receptor Apert mutation: identification by analysis of complementary DNA microarray. J. Bone Miner. Res. 16:705-12.
    • (2001) J. Bone Miner. Res , vol.16 , pp. 705-712
    • Lomri, A.1    Lemonnier, J.2    Delannoy, P.3    Marie, P.J.4
  • 15
    • 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. 168:1065-76.
    • (2005) J. Cell Biol , vol.168 , pp. 1065-1076
    • Mansukhani, A.1    Ambrosetti, D.2    Holmes, G.3    Cornivelli, L.4    Basilico, C.5
  • 16
    • 0141678494 scopus 로고    scopus 로고
    • Chen L, Li D, Li C, Engel A, Deng CX. (2005) A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis. Bone. 33:169-78. Erratum in: Bone. (2005) 37:876.
    • Chen L, Li D, Li C, Engel A, Deng CX. (2005) A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis. Bone. 33:169-78. Erratum in: Bone. (2005) 37:876.
  • 17
    • 24344453489 scopus 로고    scopus 로고
    • Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse
    • Wang Y et al. (2005) Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development. 132:3537-48.
    • (2005) Development , vol.132 , pp. 3537-3548
    • Wang, Y.1
  • 18
    • 0035146145 scopus 로고    scopus 로고
    • Effect of isolation of periosteum and dura on the healing of rabbit calvarial inlay bone grafts
    • Hopper RA et al. (2001) Effect of isolation of periosteum and dura on the healing of rabbit calvarial inlay bone grafts. Plast. Reconstr. Surg. 107:454-62
    • (2001) Plast. Reconstr. Surg , vol.107 , pp. 454-462
    • Hopper, R.A.1
  • 19
    • 84894829695 scopus 로고    scopus 로고
    • Roles of periosteum, dura, and adjacent bone on healing of cranial osteonecrosis
    • Ozerdem OR et al. (2003) Roles of periosteum, dura, and adjacent bone on healing of cranial osteonecrosis. J. Craniofac. Surg.14:371-9.
    • (2003) J. Craniofac. Surg , vol.14 , pp. 371-379
    • Ozerdem, O.R.1
  • 20
    • 0036821229 scopus 로고    scopus 로고
    • Expression profiles of craniosynostosis-derived fibroblasts
    • Carinci F et al. (2002) Expression profiles of craniosynostosis-derived fibroblasts. Mol. Med. 8:638-44.
    • (2002) Mol. Med , vol.8 , pp. 638-644
    • Carinci, F.1
  • 21
    • 0035067539 scopus 로고    scopus 로고
    • Multilineage cells from human adipose tissue: Implications for cell-based therapies
    • Zuk PA et al. (2001) Multilineage cells from human adipose tissue: implications for cell-based therapies. Tissue Eng. 7:211-28.
    • (2001) Tissue Eng , vol.7 , pp. 211-228
    • Zuk, P.A.1
  • 22
    • 0036898577 scopus 로고    scopus 로고
    • Microarray data normalization and transformation
    • Quackenbush J. (2002) Microarray data normalization and transformation. Nat Genet. 32(Supp1.):496-501.
    • (2002) Nat Genet , vol.32 , Issue.SUPP1 , pp. 496-501
    • Quackenbush, J.1
  • 23
    • 0033569406 scopus 로고    scopus 로고
    • Molecular classification of cancer: Class discovery and class prediction by gene expression monitoring
    • Golub TR et al. (1999) Molecular classification of cancer: class discovery and class prediction by gene expression monitoring. Science. 286:531-7.
    • (1999) Science , vol.286 , pp. 531-537
    • Golub, T.R.1
  • 24
    • 4444364003 scopus 로고    scopus 로고
    • Antisense intronic non-coding RNA levels correlate to the degree of tumor differentiation in prostate cancer
    • Reis EM et al. (2004) Antisense intronic non-coding RNA levels correlate to the degree of tumor differentiation in prostate cancer. Oncogene. 23:6684-92.
    • (2004) Oncogene , vol.23 , pp. 6684-6692
    • Reis, E.M.1
  • 25
    • 18244409687 scopus 로고    scopus 로고
    • Gene expression profiling predicts clinical outcome of breast cancer
    • van't Veer LJ et al. (2002) Gene expression profiling predicts clinical outcome of breast cancer. Nature. 415:530-6.
    • (2002) Nature , vol.415 , pp. 530-536
    • van't Veer, L.J.1
  • 26
    • 28844506274 scopus 로고    scopus 로고
    • Role of the phosphoinositide 3-kinase pathway in mouse embryonic stem (ES) cells
    • Takahashi K, Murakami M, Yamanaka S. (2005) Role of the phosphoinositide 3-kinase pathway in mouse embryonic stem (ES) cells. Biochem. Soc. Trans. 33:522-5.
    • (2005) Biochem. Soc. Trans , vol.33 , pp. 522-525
    • Takahashi, K.1    Murakami, M.2    Yamanaka, S.3
  • 27
    • 33744758028 scopus 로고    scopus 로고
    • The role of PI3K/AKT, MAPK/ERK and NFkappabeta signaling in the maintenance of human embryonic stem cell pluripotency and viability highlighted by transcriptional profiling and functional analysis
    • Armstrong L et al. (2006) The role of PI3K/AKT, MAPK/ERK and NFkappabeta signaling in the maintenance of human embryonic stem cell pluripotency and viability highlighted by transcriptional profiling and functional analysis. Hum. Mol. Genet. 15:1894-1913.
    • (2006) Hum. Mol. Genet , vol.15 , pp. 1894-1913
    • Armstrong, L.1
  • 28
    • 0031049303 scopus 로고    scopus 로고
    • Glycosaminoglycan metabolism and cytokine release in normal and otosclerotic human bone cells interleukin-1 treated
    • Bodo M et al. (1997) Glycosaminoglycan metabolism and cytokine release in normal and otosclerotic human bone cells interleukin-1 treated. Eur. J. Clin. Invest. 27:36-42.
    • (1997) Eur. J. Clin. Invest , vol.27 , pp. 36-42
    • Bodo, M.1
  • 29
    • 2942560339 scopus 로고    scopus 로고
    • Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome
    • Twigg SR et al. (2004) Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc. Natl. Acad. Sci. U S A. 101:8652-7.
    • (2004) Proc. Natl. Acad. Sci. U S A , vol.101 , pp. 8652-8657
    • Twigg, S.R.1
  • 30
    • 30044439558 scopus 로고    scopus 로고
    • Trans-activation of EphA4 and FGF receptors mediated by direct interactions between their cytoplasmic domains
    • Yokote H et al. (2005) Trans-activation of EphA4 and FGF receptors mediated by direct interactions between their cytoplasmic domains. Proc. Natl. Acad. Sci. U. S. A. 102:8866-71.
    • (2005) Proc. Natl. Acad. Sci. U. S. A , vol.102 , pp. 8866-8871
    • Yokote, H.1
  • 31
    • 33846472047 scopus 로고    scopus 로고
    • Dusp6 (Mkp3) is a negative feedback regulator of FGF-stimulated ERK signaling during mouse development
    • Li C, Scott DA, Hatch E, Tian X, Mansour SL. (2007) Dusp6 (Mkp3) is a negative feedback regulator of FGF-stimulated ERK signaling during mouse development. Development. 134:167-76.
    • (2007) Development , vol.134 , pp. 167-176
    • Li, C.1    Scott, D.A.2    Hatch, E.3    Tian, X.4    Mansour, S.L.5


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