메뉴 건너뛰기




Volumn 21, Issue 18, 2015, Pages 4201-4211

Whole exome sequencing reveals the order of genetic changes during malignant transformation and metastasis in a single patient with NF1-plexiform neurofibroma

Author keywords

[No Author keywords available]

Indexed keywords

SPECTRIN;

EID: 84942864200     PISSN: 10780432     EISSN: 15573265     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-14-3049     Document Type: Article
Times cited : (38)

References (63)
  • 1
    • 1842610572 scopus 로고    scopus 로고
    • Recent advances in neurofibromatosis type 1
    • Arun D, Gutmann DH. Recent advances in neurofibromatosis type 1. Curr Opin Neurol 2004;17:101-5.
    • (2004) Curr Opin Neurol , vol.17 , pp. 101-105
    • Arun, D.1    Gutmann, D.H.2
  • 2
    • 84904263293 scopus 로고    scopus 로고
    • Neurofibromatosis type 1: A multidisciplinary approach to care
    • Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 2014;13:834-43.
    • (2014) Lancet Neurol , vol.13 , pp. 834-843
    • Hirbe, A.C.1    Gutmann, D.H.2
  • 3
    • 33847316896 scopus 로고    scopus 로고
    • Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
    • Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44:81-8.
    • (2007) J Med Genet , vol.44 , pp. 81-88
    • Ferner, R.E.1    Huson, S.M.2    Thomas, N.3    Moss, C.4    Willshaw, H.5    Evans, D.G.6
  • 6
    • 0035405619 scopus 로고    scopus 로고
    • NF1 deletions in S- 100 protein-positive and negative cells of sporadic and neurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors
    • Perry A, Roth KA, Banerjee R, Fuller CE, Gutmann DH. NF1 deletions in S- 100 protein-positive and negative cells of sporadic and neurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors. Am J Pathol 2001;159:57-61.
    • (2001) Am J Pathol , vol.159 , pp. 57-61
    • Perry, A.1    Roth, K.A.2    Banerjee, R.3    Fuller, C.E.4    Gutmann, D.H.5
  • 7
    • 84896543277 scopus 로고    scopus 로고
    • Neurofibromin specific antibody differentiates malignant peripheral nerve sheath tumors (MPNST) from other spindle cell neoplasms
    • Reuss DE, HabelA, Hagenlocher C, Mucha J, AckermannU, Tessmer C, et al. Neurofibromin specific antibody differentiates malignant peripheral nerve sheath tumors (MPNST) from other spindle cell neoplasms. Acta Neuropathol 2014;127:565-72.
    • (2014) Acta Neuropathol , vol.127 , pp. 565-572
    • Reuss, D.E.1    Habel, A.2    Hagenlocher, C.3    Mucha, J.4    Ackermann, U.5    Tessmer, C.6
  • 8
    • 64549151639 scopus 로고    scopus 로고
    • Germline and somatic NF1 mutations in sporadic and NF1- associated malignant peripheral nerve sheath tumours
    • Bottillo I, Ahlquist T, Brekke H, Danielsen SA, van den Berg E, Mertens F, et al. Germline and somatic NF1 mutations in sporadic and NF1- associated malignant peripheral nerve sheath tumours. J Pathol 2009; 217:693-701.
    • (2009) J Pathol , vol.217 , pp. 693-701
    • Bottillo, I.1    Ahlquist, T.2    Brekke, H.3    Danielsen, S.A.4    Van Den Berg, E.5    Mertens, F.6
  • 9
    • 54549095884 scopus 로고    scopus 로고
    • Nf1-dependent tumors require a microenvironment containing Nf1+/- and c-kit-dependent bone marrow
    • Yang FC, Ingram DA, Chen S, Zhu Y, Yuan J, Li X, et al. Nf1-dependent tumors require a microenvironment containing Nf1+/- and c-kit-dependent bone marrow. Cell 2008;135:437-48.
    • (2008) Cell , vol.135 , pp. 437-448
    • Yang, F.C.1    Ingram, D.A.2    Chen, S.3    Zhu, Y.4    Yuan, J.5    Li, X.6
  • 10
    • 38549108547 scopus 로고    scopus 로고
    • Induction of abnormal proliferation by nonmyelinating schwann cells triggers neurofibroma formation
    • Zheng H, Chang L, Patel N, Yang J, Lowe L, Burns DK, et al. Induction of abnormal proliferation by nonmyelinating schwann cells triggers neurofibroma formation. Cancer Cell 2008;13:117-28.
    • (2008) Cancer Cell , vol.13 , pp. 117-128
    • Zheng, H.1    Chang, L.2    Patel, N.3    Yang, J.4    Lowe, L.5    Burns, D.K.6
  • 11
    • 0037012848 scopus 로고    scopus 로고
    • Neurofibromas in NF1: Schwann cell origin and role of tumor environment
    • Zhu Y, Ghosh P, Charnay P, Burns DK, Parada LF. Neurofibromas in NF1: Schwann cell origin and role of tumor environment. Science 2002;296: 920-2.
    • (2002) Science , vol.296 , pp. 920-922
    • Zhu, Y.1    Ghosh, P.2    Charnay, P.3    Burns, D.K.4    Parada, L.F.5
  • 12
    • 38549108007 scopus 로고    scopus 로고
    • Plexiform and dermal neurofibromas and pigmentation are caused by Nf1 loss in desert hedgehog-expressing cells
    • Wu J, Williams JP, Rizvi TA, Kordich JJ, Witte D, Meijer D, et al. Plexiform and dermal neurofibromas and pigmentation are caused by Nf1 loss in desert hedgehog-expressing cells. Cancer Cell 2008;13:105-16.
    • (2008) Cancer Cell , vol.13 , pp. 105-116
    • Wu, J.1    Williams, J.P.2    Rizvi, T.A.3    Kordich, J.J.4    Witte, D.5    Meijer, D.6
  • 13
    • 84859801584 scopus 로고    scopus 로고
    • Genetically engineered mouse models shed new light on the pathogenesis of neurofibromatosis type I-related neoplasms of the peripheral nervous system
    • Brossier NM, Carroll SL. Genetically engineered mouse models shed new light on the pathogenesis of neurofibromatosis type I-related neoplasms of the peripheral nervous system. Brain Res Bull 2012;88:58-71.
    • (2012) Brain Res Bull , vol.88 , pp. 58-71
    • Brossier, N.M.1    Carroll, S.L.2
  • 14
    • 4143097906 scopus 로고    scopus 로고
    • Gene expression profiling reveals unique molecular subtypes of Neurofibromatosis Type I-associated and sporadic malignant peripheral nerve sheath tumors
    • Watson MA, Perry A, Tihan T, Prayson RA, Guha A, Bridge J, et al. Gene expression profiling reveals unique molecular subtypes of Neurofibromatosis Type I-associated and sporadic malignant peripheral nerve sheath tumors. Brain Pathol 2004;14:297-303.
    • (2004) Brain Pathol , vol.14 , pp. 297-303
    • Watson, M.A.1    Perry, A.2    Tihan, T.3    Prayson, R.A.4    Guha, A.5    Bridge, J.6
  • 15
    • 77956080809 scopus 로고    scopus 로고
    • CD44 and p53 immunoexpression patterns in NF1 neoplasms - Indicators of malignancy and infiltration
    • Riddle ND, Gorden L, Rojiani MV, Hakam A, Rojiani AM. CD44 and p53 immunoexpression patterns in NF1 neoplasms - indicators of malignancy and infiltration. Int J Clin Exp Pathol 2010;3:515-21.
    • (2010) Int J Clin Exp Pathol , vol.3 , pp. 515-521
    • Riddle, N.D.1    Gorden, L.2    Rojiani, M.V.3    Hakam, A.4    Rojiani, A.M.5
  • 16
    • 79953331217 scopus 로고    scopus 로고
    • Array-based comparative genomic hybridization identifies CDK4 and FOXM1 alterations as independent predictors of survival in malignant peripheral nerve sheath tumor
    • Yu J, Deshmukh H, Payton JE, Dunham C, Scheithauer BW, Tihan T, et al. Array-based comparative genomic hybridization identifies CDK4 and FOXM1 alterations as independent predictors of survival in malignant peripheral nerve sheath tumor. Clin Cancer Res 2011;17:1924-34.
    • (2011) Clin Cancer Res , vol.17 , pp. 1924-1934
    • Yu, J.1    Deshmukh, H.2    Payton, J.E.3    Dunham, C.4    Scheithauer, B.W.5    Tihan, T.6
  • 17
    • 75449103584 scopus 로고    scopus 로고
    • Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene
    • Miller SJ, Jessen WJ, Mehta T, Hardiman A, Sites E, Kaiser S, et al. Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene. EMBO Mol Med 2009;1: 236-48.
    • (2009) EMBO Mol Med , vol.1 , pp. 236-248
    • Miller, S.J.1    Jessen, W.J.2    Mehta, T.3    Hardiman, A.4    Sites, E.5    Kaiser, S.6
  • 18
    • 84858277359 scopus 로고    scopus 로고
    • Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associatedmalignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis
    • Upadhyaya M, Spurlock G, Thomas L, Thomas NS, Richards M, Mautner VF, et al. Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associatedmalignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis. Hum Mutat 2012;33:763-76.
    • (2012) Hum Mutat , vol.33 , pp. 763-776
    • Upadhyaya, M.1    Spurlock, G.2    Thomas, L.3    Thomas, N.S.4    Richards, M.5    Mautner, V.F.6
  • 19
    • 84922572928 scopus 로고    scopus 로고
    • Methylated RASSF1A inmalignant peripheral nerve sheath tumors identifies neurofibromatosis type 1 patients with inferior prognosis
    • Danielsen SA, Lind GE, Kolberg M, Holand M, Bjerkehagen B, Sundby Hall K, et al. Methylated RASSF1A inmalignant peripheral nerve sheath tumors identifies neurofibromatosis type 1 patients with inferior prognosis. Neuro Oncol 2015;17:63-9.
    • (2015) Neuro Oncol , vol.17 , pp. 63-69
    • Danielsen, S.A.1    Lind, G.E.2    Kolberg, M.3    Holand, M.4    Bjerkehagen, B.5    Sundby Hall, K.6
  • 20
    • 84923068289 scopus 로고    scopus 로고
    • TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions
    • Park GH, Lee SJ, Yim H, Han JH, Kim HJ, Sohn YB, et al. TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions. Oncol Rep 2014;32:1347-54.
    • (2014) Oncol Rep , vol.32 , pp. 1347-1354
    • Park, G.H.1    Lee, S.J.2    Yim, H.3    Han, J.H.4    Kim, H.J.5    Sohn, Y.B.6
  • 21
    • 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, Banerjee R, Marley EF, Liapis H, 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;61:702-9.
    • (2002) J Neuropathol Exp Neurol , vol.61 , pp. 702-709
    • Perry, A.1    Kunz, S.N.2    Fuller, C.E.3    Banerjee, R.4    Marley, E.F.5    Liapis, H.6
  • 22
    • 0742324551 scopus 로고    scopus 로고
    • Differentially expressed genes in neurofibromatosis 1-associated neurofibromas and malignant peripheral nerve sheath tumors
    • Holtkamp N, Mautner VF, Friedrich RE, Harder A, Hartmann C, Theallier- Janko A, et al. Differentially expressed genes in neurofibromatosis 1-associated neurofibromas and malignant peripheral nerve sheath tumors. Acta Neuropathol 2004;107:159-68.
    • (2004) Acta Neuropathol , vol.107 , pp. 159-168
    • Holtkamp, N.1    Mautner, V.F.2    Friedrich, R.E.3    Harder, A.4    Hartmann, C.5    Theallier- Janko, A.6
  • 23
    • 64949185318 scopus 로고    scopus 로고
    • Molecular characterization of permanent cell lines from primary, metastatic and recurrent malignant peripheral nerve sheath tumors (MPNST) with underlying neurofibromatosis-1
    • Fang Y, Elahi A, Denley RC, Rao PH, Brennan MF, Jhanwar SC. Molecular characterization of permanent cell lines from primary, metastatic and recurrent malignant peripheral nerve sheath tumors (MPNST) with underlying neurofibromatosis-1. Anticancer Res 2009; 29:1255-62.
    • (2009) Anticancer Res , vol.29 , pp. 1255-1262
    • Fang, Y.1    Elahi, A.2    Denley, R.C.3    Rao, P.H.4    Brennan, M.F.5    Jhanwar, S.C.6
  • 24
    • 0024154605 scopus 로고
    • National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA July 13-15, 1987
    • National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987. Neurofibromatosis 1988;1:172-8.
    • (1988) Neurofibromatosis , vol.1 , pp. 172-178
  • 25
    • 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;25:1754-60.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 28
    • 84863229597 scopus 로고    scopus 로고
    • VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
    • Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, et al. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res 2012;22:568-76.
    • (2012) Genome Res , vol.22 , pp. 568-576
    • Koboldt, D.C.1    Zhang, Q.2    Larson, D.E.3    Shen, D.4    McLellan, M.D.5    Lin, L.6
  • 29
  • 30
    • 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, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20:1297-303.
    • (2010) Genome Res , vol.20 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3    Sivachenko, A.4    Cibulskis, K.5    Kernytsky, A.6
  • 31
    • 70350694443 scopus 로고    scopus 로고
    • Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
    • Ye K, Schulz MH, Long Q, Apweiler R, Ning Z. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 2009;25: 2865-71.
    • (2009) Bioinformatics , vol.25 , pp. 2865-2871
    • Ye, K.1    Schulz, M.H.2    Long, Q.3    Apweiler, R.4    Ning, Z.5
  • 32
    • 84894243342 scopus 로고    scopus 로고
    • BRAFV600E mutation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors
    • Hirbe AC, Pekmezci M, Dahiya S, Apicelli AJ, Van Tine BA, Perry A, et al. BRAFV600E mutation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors. Neuro Oncol 2014;16: 466-7.
    • (2014) Neuro Oncol , vol.16 , pp. 466-467
    • Hirbe, A.C.1    Pekmezci, M.2    Dahiya, S.3    Apicelli, A.J.4    Van Tine, B.A.5    Perry, A.6
  • 33
    • 3943106696 scopus 로고    scopus 로고
    • Loss of tuberous sclerosis complex 1 (Tsc1) expression results in increased Rheb/S6K pathway signaling important for astrocyte cell size regulation
    • Uhlmann EJ, Li W, Scheidenhelm DK, Gau CL, Tamanoi F, Gutmann DH. Loss of tuberous sclerosis complex 1 (Tsc1) expression results in increased Rheb/S6K pathway signaling important for astrocyte cell size regulation. Glia 2004;47:180-8.
    • (2004) Glia , vol.47 , pp. 180-188
    • Uhlmann, E.J.1    Li, W.2    Scheidenhelm, D.K.3    Gau, C.L.4    Tamanoi, F.5    Gutmann, D.H.6
  • 34
    • 77952151244 scopus 로고    scopus 로고
    • Schweinfurthin A selectively inhibits proliferation and Rho signaling in glioma and neurofibromatosis type 1 tumor cells in a NF1-GRDdependent manner
    • Turbyville TJ, Gursel DB, Tuskan RG, Walrath JC, Lipschultz CA, Lockett SJ, et al. Schweinfurthin A selectively inhibits proliferation and Rho signaling in glioma and neurofibromatosis type 1 tumor cells in a NF1-GRDdependent manner. Mol Cancer Ther 2010;9:1234-43.
    • (2010) Mol Cancer Ther , vol.9 , pp. 1234-1243
    • Turbyville, T.J.1    Gursel, D.B.2    Tuskan, R.G.3    Walrath, J.C.4    Lipschultz, C.A.5    Lockett, S.J.6
  • 35
    • 0033812187 scopus 로고    scopus 로고
    • Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects
    • Reilly KM, Loisel DA, Bronson RT, McLaughlin ME, Jacks T. Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. Nat Genet 2000;26:109-13.
    • (2000) Nat Genet , vol.26 , pp. 109-113
    • Reilly, K.M.1    Loisel, D.A.2    Bronson, R.T.3    McLaughlin, M.E.4    Jacks, T.5
  • 37
  • 38
    • 78649329027 scopus 로고    scopus 로고
    • Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: Correlation between histopathological, clinical and molecular findings
    • Spurlock G, Knight SJ, Thomas N, Kiehl TR, Guha A, Upadhyaya M. Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings. J Cancer Res Clin Oncol 2010;136:1869-80.
    • (2010) J Cancer Res Clin Oncol , vol.136 , pp. 1869-1880
    • Spurlock, G.1    Knight, S.J.2    Thomas, N.3    Kiehl, T.R.4    Guha, A.5    Upadhyaya, M.6
  • 39
    • 39749203515 scopus 로고    scopus 로고
    • High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarraybased comparative genomic hybridization
    • Mantripragada KK, Spurlock G, Kluwe L, Chuzhanova N, Ferner RE, Frayling IM, et al. High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarraybased comparative genomic hybridization. Clin Cancer Res 2008; 14:1015-24.
    • (2008) Clin Cancer Res , vol.14 , pp. 1015-1024
    • Mantripragada, K.K.1    Spurlock, G.2    Kluwe, L.3    Chuzhanova, N.4    Ferner, R.E.5    Frayling, I.M.6
  • 40
    • 33645061486 scopus 로고    scopus 로고
    • Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues
    • Miller SJ, Rangwala F, Williams J, Ackerman P, Kong S, Jegga AG, et al. Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues. Cancer Res 2006; 66:2584-91.
    • (2006) Cancer Res , vol.66 , pp. 2584-2591
    • Miller, S.J.1    Rangwala, F.2    Williams, J.3    Ackerman, P.4    Kong, S.5    Jegga, A.G.6
  • 41
    • 13644258035 scopus 로고    scopus 로고
    • Molecular profiling of malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1, based on large-scale real-time RT-PCR
    • Levy P, Vidaud D, Leroy K, Laurendeau I, Wechsler J, Bolasco G, et al. Molecular profiling of malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1, based on large-scale real-time RT-PCR. Mol Cancer 2004;3:20.
    • (2004) Mol Cancer , vol.3 , pp. 20
    • Levy, P.1    Vidaud, D.2    Leroy, K.3    Laurendeau, I.4    Wechsler, J.5    Bolasco, G.6
  • 42
    • 1542438624 scopus 로고    scopus 로고
    • Topoisomerase-II alpha is upregulated in malignant peripheral nerve sheath tumors and associated with clinical outcome
    • Skotheim RI, Kallioniemi A, Bjerkhagen B, Mertens F, Brekke HR, Monni O, et al. Topoisomerase-II alpha is upregulated in malignant peripheral nerve sheath tumors and associated with clinical outcome. J Clin Oncol 2003;21:4586-91.
    • (2003) J Clin Oncol , vol.21 , pp. 4586-4591
    • Skotheim, R.I.1    Kallioniemi, A.2    Bjerkhagen, B.3    Mertens, F.4    Brekke, H.R.5    Monni, O.6
  • 46
    • 0035164154 scopus 로고    scopus 로고
    • Biallelic inactivation of TP53 rarely contributes to the development of malignant peripheral nerve sheath tumors
    • Lothe RA, Smith-Sorensen B, Hektoen M, Stenwig AE, Mandahl N, Saeter G, et al. Biallelic inactivation of TP53 rarely contributes to the development of malignant peripheral nerve sheath tumors. Genes Chromosomes Cancer 2001;30:202-6.
    • (2001) Genes Chromosomes Cancer , vol.30 , pp. 202-206
    • Lothe, R.A.1    Smith-Sorensen, B.2    Hektoen, M.3    Stenwig, A.E.4    Mandahl, N.5    Saeter, G.6
  • 48
    • 0032762784 scopus 로고    scopus 로고
    • Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation
    • Nielsen GP, Stemmer-Rachamimov AO, Ino Y, Moller MB, Rosenberg AE, Louis DN. Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation. Am J Pathol 1999;155:1879-84.
    • (1999) Am J Pathol , vol.155 , pp. 1879-1884
    • Nielsen, G.P.1    Stemmer-Rachamimov, A.O.2    Ino, Y.3    Moller, M.B.4    Rosenberg, A.E.5    Louis, D.N.6
  • 49
    • 3843053704 scopus 로고    scopus 로고
    • P15INK4b, p14ARF, and p16INK4a inactivation in sporadic and neurofibromatosis type 1-relatedmalignant peripheral nerve sheath tumors
    • Perrone F, Tabano S, Colombo F, Dagrada G, Birindelli S, Gronchi A, et al. p15INK4b, p14ARF, and p16INK4a inactivation in sporadic and neurofibromatosis type 1-relatedmalignant peripheral nerve sheath tumors. Clin Cancer Res 2003;9:4132-8.
    • (2003) Clin Cancer Res , vol.9 , pp. 4132-4138
    • Perrone, F.1    Tabano, S.2    Colombo, F.3    Dagrada, G.4    Birindelli, S.5    Gronchi, A.6
  • 51
    • 33746895189 scopus 로고    scopus 로고
    • Identification of a novel amplicon at distal 17q containing the BIRC5/SURVIVIN gene in malignant peripheral nerve sheath tumours
    • Storlazzi CT, Brekke HR, Mandahl N, Brosjo O, Smeland S, Lothe RA, et al. Identification of a novel amplicon at distal 17q containing the BIRC5/SURVIVIN gene in malignant peripheral nerve sheath tumours. J Pathol 2006;209:492-500.
    • (2006) J Pathol , vol.209 , pp. 492-500
    • Storlazzi, C.T.1    Brekke, H.R.2    Mandahl, N.3    Brosjo, O.4    Smeland, S.5    Lothe, R.A.6
  • 52
    • 84896720556 scopus 로고    scopus 로고
    • Survivin expression and prognostic significance in pediatric malignant peripheral nerve sheath tumors (MPNST)
    • Alaggio R, Turrini R, Boldrin D, Merlo A, Gambini C, Ferrari A, et al. Survivin expression and prognostic significance in pediatric malignant peripheral nerve sheath tumors (MPNST). PLoS One 2013;8:e80456.
    • (2013) PLoS One , vol.8 , pp. e80456
    • Alaggio, R.1    Turrini, R.2    Boldrin, D.3    Merlo, A.4    Gambini, C.5    Ferrari, A.6
  • 54
    • 0034777927 scopus 로고    scopus 로고
    • Chondrocyte phenotype and cell survival are regulated by culture conditions and by specific cytokines through the expression of Sox-9 transcription factor
    • Kolettas E, Muir HI, Barrett JC, Hardingham TE. Chondrocyte phenotype and cell survival are regulated by culture conditions and by specific cytokines through the expression of Sox-9 transcription factor. Rheumatology 2001;40:1146-56.
    • (2001) Rheumatology , vol.40 , pp. 1146-1156
    • Kolettas, E.1    Muir, H.I.2    Barrett, J.C.3    Hardingham, T.E.4
  • 55
    • 84866002291 scopus 로고    scopus 로고
    • The cBio cancer genomics portal: An open platform for exploring multidimensional cancer genomics data
    • Cerami E, Gao J, Dogrusoz U, Gross BE, Sumer SO, Aksoy BA, et al. The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov 2012;2:401-4.
    • (2012) Cancer Discov , vol.2 , pp. 401-404
    • Cerami, E.1    Gao, J.2    Dogrusoz, U.3    Gross, B.E.4    Sumer, S.O.5    Aksoy, B.A.6
  • 56
    • 84875740314 scopus 로고    scopus 로고
    • Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal
    • Gao J, Aksoy BA, Dogrusoz U, Dresdner G, Gross B, Sumer SO, et al. Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Sci Signal 2013;6:pl1.
    • (2013) Sci Signal , vol.6 , pp. l1
    • Gao, J.1    Aksoy, B.A.2    Dogrusoz, U.3    Dresdner, G.4    Gross, B.5    Sumer, S.O.6
  • 57
    • 84878785823 scopus 로고    scopus 로고
    • KRAB-Zinc finger proteins: A repressor family displaying multiple biological functions
    • Lupo A, Cesaro E, Montano G, Zurlo D, Izzo P, Costanzo P. KRAB-Zinc finger proteins: a repressor family displaying multiple biological functions. Curr Genomics 2013;14:268-78.
    • (2013) Curr Genomics , vol.14 , pp. 268-278
    • Lupo, A.1    Cesaro, E.2    Montano, G.3    Zurlo, D.4    Izzo, P.5    Costanzo, P.6
  • 58
  • 59
    • 84904550538 scopus 로고    scopus 로고
    • Mutant beta-III spectrin causes mGluR1alpha mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5
    • Armbrust KR, Wang X, Hathorn TJ, Cramer SW, Chen G, Zu T, et al.Mutant beta-III spectrin causes mGluR1alpha mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5. J Neurosci 2014;34:9891-904.
    • (2014) J Neurosci , vol.34 , pp. 9891-9904
    • Armbrust, K.R.1    Wang, X.2    Hathorn, T.J.3    Cramer, S.W.4    Chen, G.5    Zu, T.6
  • 60
    • 84873867735 scopus 로고    scopus 로고
    • BetaIII spectrin regulates the structural integrity and the secretory protein transport of the Golgi complex
    • Salcedo-Sicilia L, Granell S, Jovic M, Sicart A, Mato E, Johannes L, et al. betaIII spectrin regulates the structural integrity and the secretory protein transport of the Golgi complex. J Biol Chem 2013;288: 2157-66.
    • (2013) J Biol Chem , vol.288 , pp. 2157-2166
    • Salcedo-Sicilia, L.1    Granell, S.2    Jovic, M.3    Sicart, A.4    Mato, E.5    Johannes, L.6
  • 62
    • 77950618122 scopus 로고    scopus 로고
    • Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans
    • Perkins EM, Clarkson YL, Sabatier N, Longhurst DM, Millward CP, Jack J, et al. Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. J Neurosci 2010;30:4857-67.
    • (2010) J Neurosci , vol.30 , pp. 4857-4867
    • Perkins, E.M.1    Clarkson, Y.L.2    Sabatier, N.3    Longhurst, D.M.4    Millward, C.P.5    Jack, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.