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Volumn 44, Issue 2, 2009, Pages 243-250

Congenital pseudarthrosis of neurofibromatosis type 1: Impaired osteoblast differentiation and function and altered NF1 gene expression

Author keywords

Collagen; Congenital pseudarthrosis of the tibia; Mesenchymal stem cell; Neurofibromatosis type 1; Neurofibromin; Osteoblast; Skeletal

Indexed keywords

MESSENGER RNA; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1A;

EID: 58249098814     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2008.10.050     Document Type: Article
Times cited : (59)

References (43)
  • 1
    • 0015762529 scopus 로고
    • Radiological classification of congenital pseudarthrosis of the tibia
    • Andersen K.S. Radiological classification of congenital pseudarthrosis of the tibia. Acta. Orthop. Scand. 44 (1973) 719-727
    • (1973) Acta. Orthop. Scand. , vol.44 , pp. 719-727
    • Andersen, K.S.1
  • 2
    • 0020085659 scopus 로고
    • Pathology and natural history of congenital pseudarthrosis of the tibia
    • Boyd H.B. Pathology and natural history of congenital pseudarthrosis of the tibia. Clin. Orthop. (1982) 5-13
    • (1982) Clin. Orthop. , pp. 5-13
    • Boyd, H.B.1
  • 3
    • 0034975453 scopus 로고    scopus 로고
    • Mesenchymal stem cells: building blocks for molecular medicine in the 21st century
    • Caplan A.I., and Bruder S.P. Mesenchymal stem cells: building blocks for molecular medicine in the 21st century. Trends. Mol. Med. 7 (2001) 259-264
    • (2001) Trends. Mol. Med. , vol.7 , pp. 259-264
    • Caplan, A.I.1    Bruder, S.P.2
  • 4
    • 0028009219 scopus 로고
    • Differentiation of human bone marrow osteogenic stromal cells in vitro: induction of the osteoblast phenotype by dexamethasone
    • Cheng S.L., Yang J.W., Rifas L., Zhang S.F., and Avioli L.V. Differentiation of human bone marrow osteogenic stromal cells in vitro: induction of the osteoblast phenotype by dexamethasone. Endocrinology 134 (1994) 277-286
    • (1994) Endocrinology , vol.134 , pp. 277-286
    • Cheng, S.L.1    Yang, J.W.2    Rifas, L.3    Zhang, S.F.4    Avioli, L.V.5
  • 5
    • 0035936783 scopus 로고    scopus 로고
    • NF1 tumor suppressor gene function: narrowing the GAP
    • Cichowski K., and Jacks T. NF1 tumor suppressor gene function: narrowing the GAP. Cell 104 (2001) 593-604
    • (2001) Cell , vol.104 , pp. 593-604
    • Cichowski, K.1    Jacks, T.2
  • 6
    • 0032768790 scopus 로고    scopus 로고
    • Phenotypical and functional properties of human bone marrow mesenchymal progenitor cells
    • Conget P.A., and Minguell J.J. Phenotypical and functional properties of human bone marrow mesenchymal progenitor cells. J. Cell. Physiol. 181 (1999) 67-73
    • (1999) J. Cell. Physiol. , vol.181 , pp. 67-73
    • Conget, P.A.1    Minguell, J.J.2
  • 7
    • 0022658223 scopus 로고
    • Osseous manifestations of neurofibromatosis in childhood
    • Crawford A.H., and Bagamery N. Osseous manifestations of neurofibromatosis in childhood. J. Pediatr. Orthop. 6 (1986) 72-88
    • (1986) J. Pediatr. Orthop. , vol.6 , pp. 72-88
    • Crawford, A.H.1    Bagamery, N.2
  • 9
    • 0030966414 scopus 로고    scopus 로고
    • Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients
    • Friedman J.M., and Birch P.H. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am. J. Med. Genet. 70 (1997) 138-143
    • (1997) Am. J. Med. Genet. , vol.70 , pp. 138-143
    • Friedman, J.M.1    Birch, P.H.2
  • 11
    • 0030957310 scopus 로고    scopus 로고
    • The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
    • Gutmann D.H., Aylsworth A., Carey J.C., Korf B., Marks J., Pyeritz R.E., et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. Jama 278 (1997) 51-57
    • (1997) Jama , vol.278 , pp. 51-57
    • Gutmann, D.H.1    Aylsworth, A.2    Carey, J.C.3    Korf, B.4    Marks, J.5    Pyeritz, R.E.6
  • 12
    • 0026578530 scopus 로고
    • Characterization of cells with osteogenic potential from human marrow
    • Haynesworth S.E., Goshima J., Goldberg V.M., and Caplan A.I. Characterization of cells with osteogenic potential from human marrow. Bone 13 (1992) 81-88
    • (1992) Bone , vol.13 , pp. 81-88
    • Haynesworth, S.E.1    Goshima, J.2    Goldberg, V.M.3    Caplan, A.I.4
  • 13
    • 0036786236 scopus 로고    scopus 로고
    • Continuous inhibition of MAPK signaling promotes the early osteoblastic differentiation and mineralization of the extracellular matrix
    • Higuchi C., Myoui A., Hashimoto N., Kuriyama K., Yoshioka K., Yoshikawa H., et al. Continuous inhibition of MAPK signaling promotes the early osteoblastic differentiation and mineralization of the extracellular matrix. J. Bone Miner. Res. 17 (2002) 1785-1794
    • (2002) J. Bone Miner. Res. , vol.17 , pp. 1785-1794
    • Higuchi, C.1    Myoui, A.2    Hashimoto, N.3    Kuriyama, K.4    Yoshioka, K.5    Yoshikawa, H.6
  • 14
    • 4544371806 scopus 로고    scopus 로고
    • Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia
    • Hisaoka M., Hashimoto H., Ohguri T., Aoki T., Okamoto S., Tanaka H., et al. Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia. Skeletal. Radiol. 33 (2004) 545-549
    • (2004) Skeletal. Radiol. , vol.33 , pp. 545-549
    • Hisaoka, M.1    Hashimoto, H.2    Ohguri, T.3    Aoki, T.4    Okamoto, S.5    Tanaka, H.6
  • 15
    • 0002928373 scopus 로고
    • Neurofibromatoses 1: a pathogenetic and clinical overview
    • Huson S.M., and Hughes R.A.C. (Eds), Chapman & Hall Medical, London ; New York
    • Huson S.M. Neurofibromatoses 1: a pathogenetic and clinical overview. In: Huson S.M., and Hughes R.A.C. (Eds). The Neurofibromatoses: a Pathogenetic and Clinical Overview 7 (1994), Chapman & Hall Medical, London ; New York 160-203
    • (1994) The Neurofibromatoses: a Pathogenetic and Clinical Overview , vol.7 , pp. 160-203
    • Huson, S.M.1
  • 16
  • 17
    • 0035132034 scopus 로고    scopus 로고
    • Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly
    • Jacquemin C., Mullaney P., and Bosley T.M. Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly. Neuroradiology 43 (2001) 178-182
    • (2001) Neuroradiology , vol.43 , pp. 178-182
    • Jacquemin, C.1    Mullaney, P.2    Bosley, T.M.3
  • 18
    • 0031012411 scopus 로고    scopus 로고
    • Osteogenic differentiation of purified, culture-expanded human mesenchymal stem cells in vitro
    • Jaiswal N., Haynesworth S.E., Caplan A.I., and Bruder S.P. Osteogenic differentiation of purified, culture-expanded human mesenchymal stem cells in vitro. J. Cell. Biochem. 64 (1997) 295-312
    • (1997) J. Cell. Biochem. , vol.64 , pp. 295-312
    • Jaiswal, N.1    Haynesworth, S.E.2    Caplan, A.I.3    Bruder, S.P.4
  • 19
    • 0034737742 scopus 로고    scopus 로고
    • Adult human mesenchymal stem cell differentiation to the osteogenic or adipogenic lineage is regulated by mitogen-activated protein kinase
    • Jaiswal R.K., Jaiswal N., Bruder S.P., Mbalaviele G., Marshak D.R., and Pittenger M.F. Adult human mesenchymal stem cell differentiation to the osteogenic or adipogenic lineage is regulated by mitogen-activated protein kinase. J. Biol. Chem. 275 (2000) 9645-9652
    • (2000) J. Biol. Chem. , vol.275 , pp. 9645-9652
    • Jaiswal, R.K.1    Jaiswal, N.2    Bruder, S.P.3    Mbalaviele, G.4    Marshak, D.R.5    Pittenger, M.F.6
  • 21
    • 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. NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos. J. Bone Miner. Res. 19 (2004) 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
  • 22
    • 23744514711 scopus 로고    scopus 로고
    • Decreased bone mineral density and content in neurofibromatosis type 1: lowest local values are located in the load-carrying parts of the body
    • Kuorilehto T., Poyhonen M., Bloigu R., Heikkinen J., Vaananen K., and Peltonen J. Decreased bone mineral density and content in neurofibromatosis type 1: lowest local values are located in the load-carrying parts of the body. Osteoporos. Int. 16 (2005) 928-936
    • (2005) Osteoporos. Int. , vol.16 , pp. 928-936
    • Kuorilehto, T.1    Poyhonen, M.2    Bloigu, R.3    Heikkinen, J.4    Vaananen, K.5    Peltonen, J.6
  • 27
    • 0023729166 scopus 로고
    • Bone formation in vitro by stromal cells obtained from bone marrow of young adult rats
    • Maniatopoulos C., Sodek J., and Melcher A.H. Bone formation in vitro by stromal cells obtained from bone marrow of young adult rats. Cell. Tissue. Res. 254 (1988) 317-330
    • (1988) Cell. Tissue. Res. , vol.254 , pp. 317-330
    • Maniatopoulos, C.1    Sodek, J.2    Melcher, A.H.3
  • 28
    • 0034081412 scopus 로고    scopus 로고
    • Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
    • Messiaen L.M., Callens T., Mortier G., Beysen D., Vandenbroucke I., Van Roy N., et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum. Mutat. 15 (2000) 541-555
    • (2000) Hum. Mutat. , vol.15 , pp. 541-555
    • Messiaen, L.M.1    Callens, T.2    Mortier, G.3    Beysen, D.4    Vandenbroucke, I.5    Van Roy, N.6
  • 29
    • 84870198562 scopus 로고    scopus 로고
    • NF1 mutational spectrum
    • Kaufmann D. (Ed), Monogr Hum Genet, Basel, Karger
    • Messiaen L.M., and Wimmer K. NF1 mutational spectrum. In: Kaufmann D. (Ed). Neurofibromatoses 16 (2008), Monogr Hum Genet, Basel, Karger 63-77
    • (2008) Neurofibromatoses , vol.16 , pp. 63-77
    • Messiaen, L.M.1    Wimmer, K.2
  • 30
    • 23044506069 scopus 로고    scopus 로고
    • Bone morphogenetic protein regulation of early osteoblast genes in human marrow stromal cells is mediated by extracellular signal-regulated kinase and phosphatidylinositol 3-kinase signaling
    • Osyczka A.M., and Leboy P.S. Bone morphogenetic protein regulation of early osteoblast genes in human marrow stromal cells is mediated by extracellular signal-regulated kinase and phosphatidylinositol 3-kinase signaling. Endocrinology 146 (2005) 3428-3437
    • (2005) Endocrinology , vol.146 , pp. 3428-3437
    • Osyczka, A.M.1    Leboy, P.S.2
  • 31
    • 0034540968 scopus 로고    scopus 로고
    • A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in Northern Finland
    • Poyhonen M. A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in Northern Finland. J. Med. Genet. 37 (2000) E43
    • (2000) J. Med. Genet. , vol.37
    • Poyhonen, M.1
  • 32
    • 0030889354 scopus 로고    scopus 로고
    • Marrow stromal cells as stem cells for nonhematopoietic tissues
    • Prockop D.J. Marrow stromal cells as stem cells for nonhematopoietic tissues. Science 276 (1997) 71-74
    • (1997) Science , vol.276 , pp. 71-74
    • Prockop, D.J.1
  • 33
    • 17644362123 scopus 로고    scopus 로고
    • Skeletal system
    • Friedman J.M., Gutmann D.H., MacCollin M., and Riccardi V.M. (Eds), Johns Hopkins University Press, Baltimore
    • Riccardi V.M. Skeletal system. In: Friedman J.M., Gutmann D.H., MacCollin M., and Riccardi V.M. (Eds). Neurofibromatosis: Phenotype, Natural History, and Pathogenesis (1999), Johns Hopkins University Press, Baltimore 250-273
    • (1999) Neurofibromatosis: Phenotype, Natural History, and Pathogenesis , pp. 250-273
    • Riccardi, V.M.1
  • 37
    • 9444268056 scopus 로고    scopus 로고
    • Complex splicing pattern generates great diversity in human NF1 transcripts
    • Vandenbroucke I., Callens T., De Paepe A., and Messiaen L. Complex splicing pattern generates great diversity in human NF1 transcripts. BMC Genomics. 3 (2002) 13
    • (2002) BMC Genomics. , vol.3 , pp. 13
    • Vandenbroucke, I.1    Callens, T.2    De Paepe, A.3    Messiaen, L.4
  • 38
    • 32544441269 scopus 로고    scopus 로고
    • Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients
    • Wimmer K., Yao S., Claes K., Kehrer-Sawatzki H., Tinschert S., De Raedt T., et al. Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosomes Cancer 45 (2006) 265-276
    • (2006) Genes Chromosomes Cancer , vol.45 , pp. 265-276
    • Wimmer, K.1    Yao, S.2    Claes, K.3    Kehrer-Sawatzki, H.4    Tinschert, S.5    De Raedt, T.6
  • 40
    • 0036338527 scopus 로고    scopus 로고
    • Orthopaedic manifestations of neurofibromatosis in children: an update
    • Vitale M.G., Guha A., and Skaggs D.L. Orthopaedic manifestations of neurofibromatosis in children: an update. Clin. Orthop. (2002) 107-118
    • (2002) Clin. Orthop. , pp. 107-118
    • Vitale, M.G.1    Guha, A.2    Skaggs, D.L.3
  • 41
    • 0036129285 scopus 로고    scopus 로고
    • NF1 tumor suppressor mRNA is targeted to the cell-cell contact zone in Ca(2+)-induced keratinocyte differentiation
    • Yla-Outinen H., Koivunen J., Nissinen M., Bjorkstrand A.S., Paloniemi M., Korkiamaki T., et al. NF1 tumor suppressor mRNA is targeted to the cell-cell contact zone in Ca(2+)-induced keratinocyte differentiation. Lab. Invest. 82 (2002) 353-361
    • (2002) Lab. Invest. , vol.82 , pp. 353-361
    • Yla-Outinen, H.1    Koivunen, J.2    Nissinen, M.3    Bjorkstrand, A.S.4    Paloniemi, M.5    Korkiamaki, T.6
  • 43
    • 20944447547 scopus 로고    scopus 로고
    • Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning
    • Yu X., Chen S., Potter O.L., Murthy S.M., Li J., Pulcini J.M., et al. Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning. Bone 36 (2005) 793-802
    • (2005) Bone , vol.36 , pp. 793-802
    • Yu, X.1    Chen, S.2    Potter, O.L.3    Murthy, S.M.4    Li, J.5    Pulcini, J.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.