메뉴 건너뛰기




Volumn 29, Issue 12, 2014, Pages 2636-2642

Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1

(16)  Paria, Nandina a   Cho, Tae Joon b   Choi, In Ho b   Kamiya, Nobuhiro a,c   Kayembe, Kay d   Mao, Rong e,f   Margraf, Rebecca L e   Obermosser, Gerlinde d   Oxendine, Ila a   Sant, David W e   Song, Mi Hyun g   Stevenson, David A f   Viskochil, David H f   Wise, Carol A a,c,h   Kim, Harry K W a,c   Rios, Jonathan J a,c,h  


Author keywords

Cell tissue signaling transcription factors; Diseases and disorders related to bone other; Human association studies; Molecular pathways development; Tumor induced bone disease

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR; MITOGEN ACTIVATED PROTEIN KINASE INHIBITOR; PHOSPHATIDYLINOSITOL 3 KINASE INHIBITOR; PROTEIN P53; PROTEIN TYROSINE KINASE; RAC2 PROTEIN; STEM CELL FACTOR; NEUROFIBROMIN; PHOSPHATIDYLINOSITOL 3 KINASE;

EID: 84918500136     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2298     Document Type: Article
Times cited : (25)

References (26)
  • 1
    • 0025201012 scopus 로고
    • The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins
    • Ballester R, Marchuk D, Boguski M, et al. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell. 1990;63(4): 851-9.
    • (1990) Cell. , vol.63 , Issue.4 , pp. 851-859
    • Ballester, R.1    Marchuk, D.2    Boguski, M.3
  • 2
    • 0025244911 scopus 로고
    • The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. Cerevisiae
    • Xu GF, Lin B, Tanaka K, et al. The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae. Cell. 1990;63(4): 835-41.
    • (1990) Cell. , vol.63 , Issue.4 , pp. 835-841
    • Xu, G.F.1    Lin, B.2    Tanaka, K.3
  • 3
    • 0035936783 scopus 로고    scopus 로고
    • NF1 tumor suppressor gene function: Narrowing the GAP
    • Cichowski K, Jacks T. NF1 tumor suppressor gene function: Narrowing the GAP. Cell. 2001;104(4): 593-604.
    • (2001) Cell , vol.104 , Issue.4 , pp. 593-604
    • Cichowski, K.1    Jacks, T.2
  • 4
    • 84876345887 scopus 로고    scopus 로고
    • Approaches to treating NF1 tibial pseudarthrosis: Consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium
    • Stevenson DA, Little D, Armstrong L, et al. Approaches to treating NF1 tibial pseudarthrosis: Consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium. J Pediatr Orthop. 2013; 33(3): 269-75.
    • (2013) J Pediatr Orthop. , vol.33 , Issue.3 , pp. 269-2675
    • Stevenson, D.A.1    Little, D.2    Armstrong, L.3
  • 5
    • 70349498475 scopus 로고    scopus 로고
    • Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options
    • Elefteriou F, Kolanczyk M, Schindeler A, et al. Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options. Am J Med Genet A. 2009;149A(10): 2327-38.
    • (2009) Am J Med Genet A. , vol.149 A , Issue.10 , pp. 2327-2338
    • Elefteriou, F.1    Kolanczyk, M.2    Schindeler, A.3
  • 6
    • 0032957290 scopus 로고    scopus 로고
    • Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1
    • Stevenson DA, Birch PH, Friedman JM, et al. Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. Am J Med Genet. 1999;84(5): 413-9.
    • (1999) Am J Med Genet. , vol.84 , Issue.5 , pp. 413-419
    • Stevenson, D.A.1    Birch, P.H.2    Friedman, J.M.3
  • 7
    • 33745259022 scopus 로고    scopus 로고
    • Double inactivation of NF1 in tibial pseudarthrosis
    • Stevenson DA, Zhou H, Ashrafi S, et al. Double inactivation of NF1 in tibial pseudarthrosis. Am J Hum Genet. 2006;79(1): 143-8.
    • (2006) Am J Hum Genet. , vol.79 , Issue.1 , pp. 143-148
    • Stevenson, D.A.1    Zhou, H.2    Ashrafi, S.3
  • 8
    • 84865462133 scopus 로고    scopus 로고
    • Is double inactivation of the Nf1 gene responsible for the development of congenital pseudarthrosis of the tibia associated with NF1?
    • Lee SM, Choi IH, Lee DY, et al. Is double inactivation of the Nf1 gene responsible for the development of congenital pseudarthrosis of the tibia associated with NF1? J Orthop Res. 2012;30(10): 1535-40.
    • (2012) J Orthop Res. , vol.30 , Issue.10 , pp. 1535-1540
    • Lee, S.M.1    Choi, I.H.2    Lee, D.Y.3
  • 9
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows- Wheeler transform
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows- Wheeler transform. Bioinformatics. 2009;25(14): 1754-60.
    • (2009) Bioinformatics. , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 10
    • 77956295988 scopus 로고    scopus 로고
    • The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
    • McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9): 1297-303.
    • (2010) Genome Res. , vol.20 , Issue.9 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3
  • 11
    • 68549104404 scopus 로고    scopus 로고
    • The Sequence Alignment/Map format and SAMtools
    • Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009;25(16): 2078-9.
    • (2009) Bioinformatics. , vol.25 , Issue.16 , pp. 2078-2079
    • Li, H.1    Handsaker, B.2    Wysoker, A.3
  • 12
    • 75249087100 scopus 로고    scopus 로고
    • EdgeR: A bioconductor package for differential expression analysis of digital gene expression data
    • Robinson MD, McCarthy DJ, Smyth GK. edgeR: A bioconductor package for differential expression analysis of digital gene expression data. Bioinformatics. 2010;26(1): 139-40.
    • (2010) Bioinformatics. , vol.26 , Issue.1 , pp. 139-140
    • Robinson, M.D.1    McCarthy, D.J.2    Smyth, G.K.3
  • 13
    • 79151472321 scopus 로고    scopus 로고
    • Nuclear mode of the EGFR signaling network: Biology, prognostic value, and therapeutic implications
    • Lo HW. Nuclear mode of the EGFR signaling network: Biology, prognostic value, and therapeutic implications. Discov Med. 2010; 10(50): 44-51.
    • (2010) Discov Med. , vol.10 , Issue.50 , pp. 44-51
    • Lo, H.W.1
  • 14
    • 84887520191 scopus 로고    scopus 로고
    • Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice
    • Sharma R, Wu X, Rhodes SD, et al. Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice. Hum Mol Genet. 2013;22(23): 4818-28.
    • (2013) Hum Mol Genet. , vol.22 , Issue.23 , pp. 4818-4828
    • Sharma, R.1    Wu, X.2    Rhodes, S.D.3
  • 15
    • 65349141187 scopus 로고    scopus 로고
    • Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas
    • Le LQ, Shipman T, Burns DK, Parada LF. Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas. Cell Stem Cell. 2009;4(5): 453-63.
    • (2009) Cell Stem Cell. , vol.4 , Issue.5 , pp. 453-463
    • Le, L.Q.1    Shipman, T.2    Burns, D.K.3    Parada, L.F.4
  • 16
    • 79959950769 scopus 로고    scopus 로고
    • A critical review of recombinant human bone morphogenetic protein-2 trials in spinal surgery: Emerging safety concerns and lessons learned
    • Carragee EJ, Hurwitz EL, Weiner BK. A critical review of recombinant human bone morphogenetic protein-2 trials in spinal surgery: Emerging safety concerns and lessons learned. Spine J. 2011; 11(6): 471-91.
    • (2011) Spine J. , vol.11 , Issue.6 , pp. 471-491
    • Carragee, E.J.1    Hurwitz, E.L.2    Weiner, B.K.3
  • 17
    • 33846688094 scopus 로고    scopus 로고
    • Balancing BMP signaling through integrated inputs into the Smad1 linker
    • Sapkota G, Alarcon C, Spagnoli FM, Brivanlou AH, Massague J. Balancing BMP signaling through integrated inputs into the Smad1 linker. Mol Cell. 2007;25(3): 441-54.
    • (2007) Mol Cell. , vol.25 , Issue.3 , pp. 441-454
    • Sapkota, G.1    Alarcon, C.2    Spagnoli, F.M.3    Brivanlou, A.H.4    Massague, J.5
  • 18
    • 84868206979 scopus 로고    scopus 로고
    • Fibroblast growth factor 2 inhibits up-regulation of bone morphogenic proteins and their receptors during osteoblastic differentiation of human mesenchymal stem cells
    • Biver E, Soubrier AS, Thouverey C, et al. Fibroblast growth factor 2 inhibits up-regulation of bone morphogenic proteins and their receptors during osteoblastic differentiation of human mesenchymal stem cells. Biochem Biophys Res Commun. 2012;427(4): 737-42.
    • (2012) Biochem Biophys Res Commun. , vol.427 , Issue.4 , pp. 737-742
    • Biver, E.1    Soubrier, A.S.2    Thouverey, C.3
  • 19
    • 0036330022 scopus 로고    scopus 로고
    • Differential NF1, p16, and EGFR patterns by interphase cytogenetics (FISH) in malignant peripheral nerve sheath tumor (MPNST) and morphologically similar spindle cell neoplasms
    • Perry A, Kunz SN, Fuller CE, et al. Differential NF1, p16, and EGFR patterns by interphase cytogenetics (FISH) in malignant peripheral nerve sheath tumor (MPNST) and morphologically similar spindle cell neoplasms. J Neuropathol Exp Neurol. 2002;61(8): 702-9.
    • (2002) J Neuropathol Exp Neurol. , vol.61 , Issue.8 , pp. 702-709
    • Perry, A.1    Kunz, S.N.2    Fuller, C.E.3
  • 20
    • 56749175521 scopus 로고    scopus 로고
    • Nf1 mutation expands an EGFRdependent peripheral nerve progenitor that confers neurofibroma tumorigenic potential
    • Williams JP, Wu J, Johansson G, et al. Nf1 mutation expands an EGFRdependent peripheral nerve progenitor that confers neurofibroma tumorigenic potential. Cell Stem Cell. 2008;3(6): 658-69.
    • (2008) Cell Stem Cell. , vol.3 , Issue.6 , pp. 658-669
    • Williams, J.P.1    Wu, J.2    Johansson, G.3
  • 21
    • 84859555316 scopus 로고    scopus 로고
    • The pan erbB inhibitor PD168393 enhances lysosomal dysfunction-induced apoptotic death in malignant peripheral nerve sheath tumor cells
    • Kohli L, Kaza N, Lavalley NJ, et al. The pan erbB inhibitor PD168393 enhances lysosomal dysfunction-induced apoptotic death in malignant peripheral nerve sheath tumor cells. Neuro Oncol. 2012; 14(3): 266-77.
    • (2012) Neuro Oncol. , vol.14 , Issue.3 , pp. 266-277
    • Kohli, L.1    Kaza, N.2    Lavalley, N.J.3
  • 22
    • 60549108776 scopus 로고    scopus 로고
    • EGFR and erbB2 in malignant peripheral nerve sheath tumors and implications for targeted therapy
    • Holtkamp N, Malzer E, Zietsch J, et al. EGFR and erbB2 in malignant peripheral nerve sheath tumors and implications for targeted therapy. Neuro Oncol. 2008;10(6): 946-57.
    • (2008) Neuro Oncol. , vol.10 , Issue.6 , pp. 946-957
    • Holtkamp, N.1    Malzer, E.2    Zietsch, J.3
  • 23
    • 34548238762 scopus 로고    scopus 로고
    • Expression of epiregulin and amphiregulin and K-ras mutation status predict disease control in metastatic colorectal cancer patients treated with cetuximab
    • Khambata-Ford S, Garrett CR, Meropol NJ, et al. Expression of epiregulin and amphiregulin and K-ras mutation status predict disease control in metastatic colorectal cancer patients treated with cetuximab. J Clin Oncol. 2007;25(22): 3230-7.
    • (2007) J Clin Oncol. , vol.25 , Issue.22 , pp. 3230-3237
    • Khambata-Ford, S.1    Garrett, C.R.2    Meropol, N.J.3
  • 24
    • 34447328431 scopus 로고    scopus 로고
    • Multiple roles for neurofibromin in skeletal development and growth
    • Kolanczyk M, Kossler N, Kuhnisch J, et al. Multiple roles for neurofibromin in skeletal development and growth. Hum Mol Genet. 2007;16(8): 874-86.
    • (2007) Hum Mol Genet. , vol.16 , Issue.8 , pp. 874-886
    • Kolanczyk, M.1    Kossler, N.2    Kuhnisch, J.3
  • 25
    • 80053137997 scopus 로고    scopus 로고
    • Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I
    • Wang W, Nyman JS, Ono K, Stevenson DA, Yang X, Elefteriou F. Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I. Hum Mol Genet. 2011;20(20): 3910-24.
    • (2011) Hum Mol Genet. , vol.20 , Issue.20 , pp. 3910-3924
    • Wang, W.1    Nyman, J.S.2    Ono, K.3    Stevenson, D.A.4    Yang, X.5    Elefteriou, F.6
  • 26
    • 0035796397 scopus 로고    scopus 로고
    • Hyperactivation of p21(ras) and the hematopoietic-specific Rho GTPase, Rac2, cooperate to alter the proliferation of neurofibromin-deficient mast cells in vivo and in vitro
    • Ingram DA, Hiatt K, King AJ, et al. Hyperactivation of p21(ras) and the hematopoietic-specific Rho GTPase, Rac2, cooperate to alter the proliferation of neurofibromin-deficient mast cells in vivo and in vitro. J Exp Med. 2001;194(1): 57-69.
    • (2001) J Exp Med. , vol.194 , Issue.1 , pp. 57-69
    • Ingram, D.A.1    Hiatt, K.2    King, A.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.