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Volumn 20, Issue 20, 2011, Pages 3910-3924

Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2 ALPHA 1; CRE RECOMBINASE; MITOGEN ACTIVATED PROTEIN KINASE; NEUROFIBROMIN; RAS PROTEIN; UNCLASSIFIED DRUG;

EID: 80053137997     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr310     Document Type: Article
Times cited : (96)

References (52)
  • 1
    • 0033605484 scopus 로고    scopus 로고
    • Epidemiology of neurofibromatosis type 1
    • Friedman, J.M. (1999) Epidemiology of neurofibromatosis type 1. Am. J. Med. Genet., 89, 1-6.
    • (1999) Am. J. Med. Genet. , vol.89 , pp. 1-6
    • Friedman, J.M.1
  • 2
    • 0030063783 scopus 로고    scopus 로고
    • A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay
    • Upadhyaya, M., Roberts, S.H., Maynard, J., Sorour, E., Thompson, P.W., Vaughan, M., Wilkie, A.O. and Hughes, H.E. (1996) A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. J. Med. Genet., 33, 148-152.
    • (1996) J. Med. Genet. , vol.33 , pp. 148-152
    • Upadhyaya, M.1    Roberts, S.H.2    Maynard, J.3    Sorour, E.4    Thompson, P.W.5    Vaughan, M.6    Wilkie, A.O.7    Hughes, H.E.8
  • 4
    • 0026603826 scopus 로고
    • The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes
    • Daston, M.M., Scrable, H., Nordlund, M., Sturbaum, A.K., Nissen, L.M. and Ratner, N. (1992) The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron, 8, 415-428.
    • (1992) Neuron , vol.8 , pp. 415-428
    • Daston, M.M.1    Scrable, H.2    Nordlund, M.3    Sturbaum, A.K.4    Nissen, L.M.5    Ratner, N.6
  • 7
    • 0033160526 scopus 로고    scopus 로고
    • Neurofibromatosis in children: the role of the orthopaedist
    • Crawford, A.H. and Schorry, E.K. (1999) Neurofibromatosis in children: the role of the orthopaedist. J. Am. Acad. Orthop. Surg., 7, 217-230.
    • (1999) J. Am. Acad. Orthop. Surg. , vol.7 , pp. 217-230
    • Crawford, A.H.1    Schorry, E.K.2
  • 12
    • 16644392408 scopus 로고    scopus 로고
    • NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos
    • Kuorilehto, T., Nissinen, M., Koivunen, J., Benson, M.D. and Peltonen, J. (2004) NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos. J. Bone Miner. Res., 19, 983-989.
    • (2004) J. Bone Miner. Res. , vol.19 , pp. 983-989
    • Kuorilehto, T.1    Nissinen, M.2    Koivunen, J.3    Benson, M.D.4    Peltonen, J.5
  • 13
    • 33751412300 scopus 로고    scopus 로고
    • ATF4 mediation of NF1 functions in osteoblast reveals a nutritional basis for congenital skeletal dysplasiae
    • Elefteriou, F., Benson, M.D., Sowa, H., Starbuck, M., Liu, X., Ron, D., Parada, L.F. and Karsenty, G. (2006) ATF4 mediation of NF1 functions in osteoblast reveals a nutritional basis for congenital skeletal dysplasiae. Cell Metab., 4, 441-451.
    • (2006) Cell Metab , vol.4 , pp. 441-451
    • Elefteriou, F.1    Benson, M.D.2    Sowa, H.3    Starbuck, M.4    Liu, X.5    Ron, D.6    Parada, L.F.7    Karsenty, G.8
  • 17
    • 77954712241 scopus 로고    scopus 로고
    • Local low-dose lovastatin delivery improves the bone-healing defect caused by Nf1 loss of function in osteoblasts
    • Wang, W., Nyman, J.S., Moss, H.E., Gutierrez, G., Mundy, G.R., Yang, X. and Elefteriou, F. (2010) Local low-dose lovastatin delivery improves the bone-healing defect caused by Nf1 loss of function in osteoblasts. J. Bone Miner. Res., 25, 1658-1667.
    • (2010) J. Bone Miner. Res. , vol.25 , pp. 1658-1667
    • Wang, W.1    Nyman, J.S.2    Moss, H.E.3    Gutierrez, G.4    Mundy, G.R.5    Yang, X.6    Elefteriou, F.7
  • 19
    • 33750580557 scopus 로고    scopus 로고
    • Hyperactivation of p21ras and PI3K cooperate to alter murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions
    • Yang, F.C., Chen, S., Robling, A.G., Yu, X., Nebesio, T.D., Yan, J., Morgan, T., Li, X., Yuan, J., Hock, J. et al. (2006) Hyperactivation of p21ras and PI3K cooperate to alter murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions. J. Clin. Invest., 116, 2880-2891.
    • (2006) J. Clin. Invest. , vol.116 , pp. 2880-2891
    • Yang, F.C.1    Chen, S.2    Robling, A.G.3    Yu, X.4    Nebesio, T.D.5    Yan, J.6    Morgan, T.7    Li, X.8    Yuan, J.9    Hock, J.10
  • 20
    • 0025732094 scopus 로고
    • Expression of the mouse alpha 1(II) collagen gene is not restricted to cartilage during development
    • Cheah, K.S., Lau, E.T., Au, P.K. and Tam, P.P. (1991) Expression of the mouse alpha 1(II) collagen gene is not restricted to cartilage during development. Development, 111, 945-953.
    • (1991) Development , vol.111 , pp. 945-953
    • Cheah, K.S.1    Lau, E.T.2    Au, P.K.3    Tam, P.P.4
  • 21
    • 12944265540 scopus 로고    scopus 로고
    • Col2a1-directed expression of Cre recombinase in differentiating chondrocytes in transgenic mice
    • Ovchinnikov, D.A., Deng, J.M., Ogunrinu, G. and Behringer, R.R. (2000) Col2a1-directed expression of Cre recombinase in differentiating chondrocytes in transgenic mice. Genesis, 26, 145-146.
    • (2000) Genesis , vol.26 , pp. 145-146
    • Ovchinnikov, D.A.1    Deng, J.M.2    Ogunrinu, G.3    Behringer, R.R.4
  • 22
    • 0038148536 scopus 로고    scopus 로고
    • Reduced chondrocyte proliferation and chondrodysplasia in mice lacking the integrin-linked kinase in chondrocytes
    • Terpstra, L., Prud'homme, J., Arabian, A., Takeda, S., Karsenty, G., Dedhar, S. and St-Arnaud, R. (2003) Reduced chondrocyte proliferation and chondrodysplasia in mice lacking the integrin-linked kinase in chondrocytes. J. Cell Biol., 162, 139-148.
    • (2003) J. Cell Biol. , vol.162 , pp. 139-148
    • Terpstra, L.1    Prud'homme, J.2    Arabian, A.3    Takeda, S.4    Karsenty, G.5    Dedhar, S.6    St-Arnaud, R.7
  • 23
    • 10344262559 scopus 로고    scopus 로고
    • The AP1 transcription factor Fra2 is required for efficient cartilage development
    • Karreth, F., Hoebertz, A., Scheuch, H., Eferl, R. and Wagner, E.F. (2004) The AP1 transcription factor Fra2 is required for efficient cartilage development. Development, 131, 5717-5725.
    • (2004) Development , vol.131 , pp. 5717-5725
    • Karreth, F.1    Hoebertz, A.2    Scheuch, H.3    Eferl, R.4    Wagner, E.F.5
  • 24
    • 33746900467 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 1 signaling in the osteo-chondrogenic cell lineage regulates sequential steps of osteoblast maturation
    • Jacob, A.L., Smith, C., Partanen, J. and Ornitz, D.M. (2006) Fibroblast growth factor receptor 1 signaling in the osteo-chondrogenic cell lineage regulates sequential steps of osteoblast maturation. Dev. Biol., 296, 315-328.
    • (2006) Dev. Biol. , vol.296 , pp. 315-328
    • Jacob, A.L.1    Smith, C.2    Partanen, J.3    Ornitz, D.M.4
  • 25
    • 34548081463 scopus 로고    scopus 로고
    • Inactivation of Pten in osteo-chondroprogenitor cells leads to epiphyseal growth plate abnormalities and skeletal overgrowth
    • Ford-Hutchinson, A.F., Ali, Z., Lines, S.E., Hallgrimsson, B., Boyd, S.K. and Jirik, F.R. (2007) Inactivation of Pten in osteo-chondroprogenitor cells leads to epiphyseal growth plate abnormalities and skeletal overgrowth. J. Bone Miner. Res., 22, 1245-1259.
    • (2007) J. Bone Miner. Res. , vol.22 , pp. 1245-1259
    • Ford-Hutchinson, A.F.1    Ali, Z.2    Lines, S.E.3    Hallgrimsson, B.4    Boyd, S.K.5    Jirik, F.R.6
  • 26
    • 65749093920 scopus 로고    scopus 로고
    • Conditional loss of PTEN leads to skeletal abnormalities and lipoma formation
    • Hsieh, S.C., Chen, N.T. and Lo, S.H. (2009) Conditional loss of PTEN leads to skeletal abnormalities and lipoma formation. Mol. Carcinog., 48, 545-552.
    • (2009) Mol. Carcinog. , vol.48 , pp. 545-552
    • Hsieh, S.C.1    Chen, N.T.2    Lo, S.H.3
  • 27
    • 70149107883 scopus 로고    scopus 로고
    • Osteo-chondroprogenitor-specific deletion of the selenocysteine tRNA gene, Trsp, leads to chondronecrosis and abnormal skeletal development: a putative model for Kashin-Beck disease
    • Downey, C.M., Horton, C.R., Carlson, B.A., Parsons, T.E., Hatfield, D.L., Hallgrimsson, B. and Jirik, F.R. (2009) Osteo-chondroprogenitor-specific deletion of the selenocysteine tRNA gene, Trsp, leads to chondronecrosis and abnormal skeletal development: a putative model for Kashin-Beck disease. PLoS Genet., 5, e1000616.
    • (2009) PLoS Genet , vol.5
    • Downey, C.M.1    Horton, C.R.2    Carlson, B.A.3    Parsons, T.E.4    Hatfield, D.L.5    Hallgrimsson, B.6    Jirik, F.R.7
  • 28
    • 77955569142 scopus 로고    scopus 로고
    • Osteoblast precursors, but not mature osteoblasts, move into developing and fractured bones along with invading blood vessels
    • Maes, C., Kobayashi, T., Selig, M.K., Torrekens, S., Roth, S.I., Mackem, S., Carmeliet, G. and Kronenberg, H.M. (2010) Osteoblast precursors, but not mature osteoblasts, move into developing and fractured bones along with invading blood vessels. Dev. Cell, 19, 329-344.
    • (2010) Dev. Cell , vol.19 , pp. 329-344
    • Maes, C.1    Kobayashi, T.2    Selig, M.K.3    Torrekens, S.4    Roth, S.I.5    Mackem, S.6    Carmeliet, G.7    Kronenberg, H.M.8
  • 29
    • 0032434449 scopus 로고    scopus 로고
    • A clonal chondrocytic cell line derived from BMP-2/T antigen-expressing transgenic mouse
    • Xu, C., Ji, X., Harris, M.A., Mundy, G.R. and Harris, S.E. (1998) A clonal chondrocytic cell line derived from BMP-2/T antigen-expressing transgenic mouse. In Vitro Cell. Dev. Biol. Anim., 34, 359-363.
    • (1998) In Vitro Cell. Dev. Biol. Anim. , vol.34 , pp. 359-363
    • Xu, C.1    Ji, X.2    Harris, M.A.3    Mundy, G.R.4    Harris, S.E.5
  • 30
    • 0035312367 scopus 로고    scopus 로고
    • Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain
    • Zhu, Y., Romero, M.I., Ghosh, P., Ye, Z., Charnay, P., Rushing, E.J., Marth, J.D. and Parada, L.F. (2001) Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain. Genes Dev., 15, 859-876.
    • (2001) Genes Dev , vol.15 , pp. 859-876
    • Zhu, Y.1    Romero, M.I.2    Ghosh, P.3    Ye, Z.4    Charnay, P.5    Rushing, E.J.6    Marth, J.D.7    Parada, L.F.8
  • 32
    • 80053165376 scopus 로고    scopus 로고
    • Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. The Johns Hopkins University Press
    • Riccardi, V.M. (1999) Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. The Johns Hopkins University Press, Baltimore and London, pp. 250-273.
    • (1999) Baltimore and London , pp. 250-273
    • Riccardi, V.M.1
  • 34
    • 0032583171 scopus 로고    scopus 로고
    • Collagen II is essential for the removal of the notochord and the formation of intervertebral discs
    • Aszodi, A., Chan, D., Hunziker, E., Bateman, J.F. and Fassler, R. (1998) Collagen II is essential for the removal of the notochord and the formation of intervertebral discs. J. Cell Biol., 143, 1399-1412.
    • (1998) J. Cell Biol. , vol.143 , pp. 1399-1412
    • Aszodi, A.1    Chan, D.2    Hunziker, E.3    Bateman, J.F.4    Fassler, R.5
  • 35
    • 0018424425 scopus 로고
    • Vertebral scalloping in neurofibromatosis
    • Casselman, E.S. and Mandell, G.A. (1979) Vertebral scalloping in neurofibromatosis. Radiology, 131, 89-94.
    • (1979) Radiology , vol.131 , pp. 89-94
    • Casselman, E.S.1    Mandell, G.A.2
  • 37
    • 0024720486 scopus 로고
    • Pitfalls of spinal deformities associated with neurofibromatosis in children
    • Crawford, A.H. (1989) Pitfalls of spinal deformities associated with neurofibromatosis in children. Clin. Orthop. Relat. Res., 245, 29-42.
    • (1989) Clin. Orthop. Relat. Res. , vol.245 , pp. 29-42
    • Crawford, A.H.1
  • 38
    • 17644388078 scopus 로고    scopus 로고
    • Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)? Clin
    • Alwan, S., Tredwell, S.J. and Friedman, J.M. (2005) Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)? Clin. Genet., 67, 378-390.
    • (2005) Genet , vol.67 , pp. 378-390
    • Alwan, S.1    Tredwell, S.J.2    Friedman, J.M.3
  • 40
    • 1042289662 scopus 로고    scopus 로고
    • Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype
    • Murakami, S., Balmes, G., McKinney, S., Zhang, Z., Givol, D. and de Crombrugghe, B. (2004) Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype. Genes Dev., 18, 290-305.
    • (2004) Genes Dev , vol.18 , pp. 290-305
    • Murakami, S.1    Balmes, G.2    McKinney, S.3    Zhang, Z.4    Givol, D.5    de Crombrugghe, B.6
  • 42
    • 0032535276 scopus 로고    scopus 로고
    • p21 ras and phosphatidylinositol-3 kinase are required for survival of wild-type and NF1 mutant sensory neurons
    • Klesse, L.J. and Parada, L.F. (1998) p21 ras and phosphatidylinositol-3 kinase are required for survival of wild-type and NF1 mutant sensory neurons. J. Neurosci., 18, 10420-10428.
    • (1998) J. Neurosci. , vol.18 , pp. 10420-10428
    • Klesse, L.J.1    Parada, L.F.2
  • 46
    • 0030966414 scopus 로고    scopus 로고
    • Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1
    • Friedman, J.M. and Birch, P.H. (1997) Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am. J. Med. Genet., 70, 138-143.
    • (1997) 728 patients. Am. J. Med. Genet. , vol.70 , pp. 138-143
    • Friedman, J.M.1    Birch, P.H.2
  • 47
    • 40849135622 scopus 로고    scopus 로고
    • Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NFI)
    • Schindeler, A. and Little, D.G. (2008) Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NFI). Bone, 42, 616-622.
    • (2008) Bone , vol.42 , pp. 616-622
    • Schindeler, A.1    Little, D.G.2
  • 49
    • 0032923739 scopus 로고    scopus 로고
    • Generalized lacZ expression with the ROSA26 Cre reporter strain
    • Soriano, P. (1999) Generalized lacZ expression with the ROSA26 Cre reporter strain. Nat. Genet., 21, 70-71.
    • (1999) Nat. Genet. , vol.21 , pp. 70-71
    • Soriano, P.1
  • 50
    • 0030678549 scopus 로고    scopus 로고
    • Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation
    • Ducy, P., Zhang, R., Geoffroy, V., Ridall, A.L. and Karsenty, G. (1997) Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation. Cell, 89, 747-754.
    • (1997) Cell , vol.89 , pp. 747-754
    • Ducy, P.1    Zhang, R.2    Geoffroy, V.3    Ridall, A.L.4    Karsenty, G.5
  • 51
    • 0035118709 scopus 로고    scopus 로고
    • Continuous expression of Cbfa1 in nonhypertrophic chondrocytes uncovers its ability to induce hypertrophic chondrocyte differentiation and partially rescues Cbfa1-deficient mice
    • Takeda, S., Bonnamy, J.P., Owen, M.J., Ducy, P. and Karsenty, G. 2001 Continuous expression of Cbfa1 in nonhypertrophic chondrocytes uncovers its ability to induce hypertrophic chondrocyte differentiation and partially rescues Cbfa1-deficient mice. Genes Dev., 15, 467-481.
    • (2001) Genes Dev , vol.15 , pp. 467-481
    • Takeda, S.1    Bonnamy, J.P.2    Owen, M.J.3    Ducy, P.4    Karsenty, G.5
  • 52
    • 0031042663 scopus 로고    scopus 로고
    • Embedding of bone samples in methylmethacrylate: an improved method suitable for bone histomorphometry, histochemistry, and immunohistochemistry
    • Erben, R.G. (1997) Embedding of bone samples in methylmethacrylate: an improved method suitable for bone histomorphometry, histochemistry, and immunohistochemistry. J. Histochem. Cytochem., 45, 307-313.
    • (1997) J. Histochem. Cytochem. , vol.45 , pp. 307-313
    • Erben, R.G.1


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