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Volumn 7, Issue 11, 2012, Pages

Sotos Syndrome Is Associated with Deregulation of the MAPK/ERK-Signaling Pathway

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR 13; FIBROBLAST GROWTH FACTOR 2; FIBROBLAST GROWTH FACTOR 4; MITOGEN ACTIVATED PROTEIN KINASE; RAS INTERACTING PROTEIN 1; SMALL INTERFERING RNA; UNCLASSIFIED DRUG;

EID: 84869116491     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0049229     Document Type: Article
Times cited : (33)

References (40)
  • 1
    • 22544456244 scopus 로고    scopus 로고
    • Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations
    • Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, et al. (2005) Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet 77: 193-204.
    • (2005) Am J Hum Genet , vol.77 , pp. 193-204
    • Tatton-Brown, K.1    Douglas, J.2    Coleman, K.3    Baujat, G.4    Cole, T.R.5
  • 3
    • 0032526951 scopus 로고    scopus 로고
    • Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators
    • Huang N, vom BE, Garnier JM, Lerouge T, Vonesch JL, et al. (1998) Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators. EMBO J 17: 3398-3412.
    • (1998) EMBO J , vol.17 , pp. 3398-3412
    • Huang, N.1    vom, B.E.2    Garnier, J.M.3    Lerouge, T.4    Vonesch, J.L.5
  • 4
    • 0037599617 scopus 로고    scopus 로고
    • NSD1 is essential for early post-implantation development and has a catalytically active SET domain
    • Rayasam GV, Wendling O, Angrand PO, Mark M, Niederreither K, et al. (2003) NSD1 is essential for early post-implantation development and has a catalytically active SET domain. EMBO J 22: 3153-3163.
    • (2003) EMBO J , vol.22 , pp. 3153-3163
    • Rayasam, G.V.1    Wendling, O.2    Angrand, P.O.3    Mark, M.4    Niederreither, K.5
  • 5
    • 78049275346 scopus 로고    scopus 로고
    • Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function
    • Lucio-Eterovic AK, Singh MM, Gardner JE, Veerappan CS, Rice JC, et al. (2010) Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function. Proc Natl Acad Sci U S A 107: 16952-16957.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 16952-16957
    • Lucio-Eterovic, A.K.1    Singh, M.M.2    Gardner, J.E.3    Veerappan, C.S.4    Rice, J.C.5
  • 6
    • 79953151792 scopus 로고    scopus 로고
    • The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation
    • Qiao Q, Li Y, Chen Z, Wang M, Reinberg D, et al. (2011) The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation. J Biol Chem 286: 8361-8368.
    • (2011) J Biol Chem , vol.286 , pp. 8361-8368
    • Qiao, Q.1    Li, Y.2    Chen, Z.3    Wang, M.4    Reinberg, D.5
  • 7
    • 76249100563 scopus 로고    scopus 로고
    • Regulation of NF-kappaB by NSD1/FBXL11-dependent reversible lysine methylation of p65
    • Lu T, Jackson MW, Wang B, Yang M, Chance MR, et al. (2010) Regulation of NF-kappaB by NSD1/FBXL11-dependent reversible lysine methylation of p65. Proc Natl Acad Sci U S A 107: 46-51.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 46-51
    • Lu, T.1    Jackson, M.W.2    Wang, B.3    Yang, M.4    Chance, M.R.5
  • 8
    • 34347392874 scopus 로고    scopus 로고
    • NUP98-NSD1 links H3K36 methylation to Hox-A gene activation and leukaemogenesis
    • Wang GG, Cai L, Pasillas MP, Kamps MP, (2007) NUP98-NSD1 links H3K36 methylation to Hox-A gene activation and leukaemogenesis. Nat Cell Biol 9: 804-812.
    • (2007) Nat Cell Biol , vol.9 , pp. 804-812
    • Wang, G.G.1    Cai, L.2    Pasillas, M.P.3    Kamps, M.P.4
  • 9
    • 76049084596 scopus 로고    scopus 로고
    • Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma
    • Berdasco M, Ropero S, Setien F, Fraga MF, Lapunzina P, et al. (2009) Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma. Proc Natl Acad Sci U S A 106: 21830-21835.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 21830-21835
    • Berdasco, M.1    Ropero, S.2    Setien, F.3    Fraga, M.F.4    Lapunzina, P.5
  • 10
    • 4744346561 scopus 로고    scopus 로고
    • Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system
    • De Boer L, Van Duyvenvoorde HA, Willemstein-Van Hove EC, Hoogerbrugge CM, Van Doorn J, et al. (2004) Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system. Eur J Endocrinol 151: 333-341.
    • (2004) Eur J Endocrinol , vol.151 , pp. 333-341
    • de Boer, L.1    van Duyvenvoorde, H.A.2    Willemstein-Van Hove, E.C.3    Hoogerbrugge, C.M.4    van Doorn, J.5
  • 11
    • 7544229749 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in patients suspected of having sotos syndrome
    • de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, et al. (2004) Genotype-phenotype correlation in patients suspected of having sotos syndrome. Horm Res 62: 197-207.
    • (2004) Horm Res , vol.62 , pp. 197-207
    • de Boer, L.1    Kant, S.G.2    Karperien, M.3    van Beers, L.4    Tjon, J.5
  • 12
    • 0142121516 scopus 로고    scopus 로고
    • Exploration, normalization, and summaries of high density oligonucleotide array probe level data
    • Irizarry RA, Hobbs B, Collin F, Beazer-Barclay YD, Antonellis KJ, et al. (2003) Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics 4: 249-264.
    • (2003) Biostatistics , vol.4 , pp. 249-264
    • Irizarry, R.A.1    Hobbs, B.2    Collin, F.3    Beazer-Barclay, Y.D.4    Antonellis, K.J.5
  • 13
    • 1342288026 scopus 로고    scopus 로고
    • affy-analysis of Affymetrix GeneChip data at the probe level
    • Gautier L, Cope L, Bolstad BM, Irizarry RA, (2004) affy-analysis of Affymetrix GeneChip data at the probe level. Bioinformatics 20: 307-315.
    • (2004) Bioinformatics , vol.20 , pp. 307-315
    • Gautier, L.1    Cope, L.2    Bolstad, B.M.3    Irizarry, R.A.4
  • 14
    • 4544341015 scopus 로고    scopus 로고
    • Linear models and empirical bayes methods for assessing differential expression in microarray experiments
    • Smyth GK, (2004) Linear models and empirical bayes methods for assessing differential expression in microarray experiments. Stat Appl Genet Mol Biol 3: Article3.
    • (2004) Stat Appl Genet Mol Biol , vol.3
    • Smyth, G.K.1
  • 16
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
    • Livak KJ, Schmittgen TD, (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25: 402-408.
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 17
    • 47949123625 scopus 로고    scopus 로고
    • Estrogen receptor-alpha overexpression suppresses 17beta-estradiol-mediated vascular endothelial growth factor expression and activation of survival kinases
    • Bake S, Ma L, Sohrabji F, (2008) Estrogen receptor-alpha overexpression suppresses 17beta-estradiol-mediated vascular endothelial growth factor expression and activation of survival kinases. Endocrinology 149: 3881-3889.
    • (2008) Endocrinology , vol.149 , pp. 3881-3889
    • Bake, S.1    Ma, L.2    Sohrabji, F.3
  • 18
    • 67650085341 scopus 로고    scopus 로고
    • Validation of a phosphoprotein array assay for characterization of human tyrosine kinase receptor downstream signaling in breast cancer
    • Chergui F, Chrétien AS, Bouali S, Ramacci C, Rouyer M, et al. (2009) Validation of a phosphoprotein array assay for characterization of human tyrosine kinase receptor downstream signaling in breast cancer. Clin Chem 55: 1327-1336.
    • (2009) Clin Chem , vol.55 , pp. 1327-1336
    • Chergui, F.1    Chrétien, A.S.2    Bouali, S.3    Ramacci, C.4    Rouyer, M.5
  • 19
    • 58449089569 scopus 로고    scopus 로고
    • Sustained activation of Akt and Erk1/2 is required for Coxiella burnetii antiapoptotic activity
    • Voth DE, Heinzen RA, (2009) Sustained activation of Akt and Erk1/2 is required for Coxiella burnetii antiapoptotic activity. Infect Immun 77: 205-213.
    • (2009) Infect Immun , vol.77 , pp. 205-213
    • Voth, D.E.1    Heinzen, R.A.2
  • 20
    • 73449092829 scopus 로고    scopus 로고
    • Epiphyseal fusion in the human growth plate does not involve classical apoptosis
    • Emons J, Chagin AS, Hultenby K, Zhivotovsky B, Wit JM, et al. (2009) Epiphyseal fusion in the human growth plate does not involve classical apoptosis. Pediatr Res 66: 654-659.
    • (2009) Pediatr Res , vol.66 , pp. 654-659
    • Emons, J.1    Chagin, A.S.2    Hultenby, K.3    Zhivotovsky, B.4    Wit, J.M.5
  • 21
    • 2542442351 scopus 로고    scopus 로고
    • Identification and characterization of rain, a novel Ras-interacting protein with a unique subcellular localization
    • Mitin NY, Ramocki MB, Zullo AJ, Der CJ, Konieczny SF, et al. (2004) Identification and characterization of rain, a novel Ras-interacting protein with a unique subcellular localization. J Biol Chem 279: 22353-22361.
    • (2004) J Biol Chem , vol.279 , pp. 22353-22361
    • Mitin, N.Y.1    Ramocki, M.B.2    Zullo, A.J.3    Der, C.J.4    Konieczny, S.F.5
  • 23
    • 0346057833 scopus 로고    scopus 로고
    • Systemic and local regulation of the growth plate
    • van der Eerden BC, Karperien M, Wit JM, (2003) Systemic and local regulation of the growth plate. Endocr Rev 24: 782-801.
    • (2003) Endocr Rev , vol.24 , pp. 782-801
    • van der Eerden, B.C.1    Karperien, M.2    Wit, J.M.3
  • 24
    • 76749088358 scopus 로고    scopus 로고
    • Pathological roles of MAPK signaling pathways in human diseases
    • Kim EK, Choi EJ, (2010) Pathological roles of MAPK signaling pathways in human diseases. Biochim Biophys Acta 1802: 396-405.
    • (2010) Biochim Biophys Acta , vol.1802 , pp. 396-405
    • Kim, E.K.1    Choi, E.J.2
  • 25
    • 33644829154 scopus 로고    scopus 로고
    • Stops along the RAS pathway in human genetic disease
    • Bentires-Alj M, Kontaridis MI, Neel BG, (2006) Stops along the RAS pathway in human genetic disease. Nat Med 12: 283-285.
    • (2006) Nat Med , vol.12 , pp. 283-285
    • Bentires-Alj, M.1    Kontaridis, M.I.2    Neel, B.G.3
  • 26
    • 17444387485 scopus 로고    scopus 로고
    • Sample size for gene expression microarray experiments
    • Tsai CA, Wang SJ, Chen DT, Chen JJ, (2005) Sample size for gene expression microarray experiments. Bioinformatics 21: 1502-1508.
    • (2005) Bioinformatics , vol.21 , pp. 1502-1508
    • Tsai, C.A.1    Wang, S.J.2    Chen, D.T.3    Chen, J.J.4
  • 27
    • 34948890501 scopus 로고    scopus 로고
    • Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients
    • Duno M, Skovby F, Schwartz M, (2007) Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients. Ann Hum Genet 71: 713-718.
    • (2007) Ann Hum Genet , vol.71 , pp. 713-718
    • Duno, M.1    Skovby, F.2    Schwartz, M.3
  • 28
    • 0036230781 scopus 로고    scopus 로고
    • Skin fibroblasts of children with idiopathic short stature show an increased mitogenic response to IGF-I and secrete more IGFBP-3
    • Kamp GA, Ouwens DM, Hoogerbrugge CM, Zwinderman AH, Maassen JA, et al. (2002) Skin fibroblasts of children with idiopathic short stature show an increased mitogenic response to IGF-I and secrete more IGFBP-3. Clin Endocrinol (Oxf) 56: 439-447.
    • (2002) Clin Endocrinol (Oxf) , vol.56 , pp. 439-447
    • Kamp, G.A.1    Ouwens, D.M.2    Hoogerbrugge, C.M.3    Zwinderman, A.H.4    Maassen, J.A.5
  • 30
    • 33646424087 scopus 로고    scopus 로고
    • Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure
    • Hwa V, Haeusler G, Pratt KL, Little BM, Frisch H, et al. (2006) Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure. J Clin Endocrinol Metab 91: 1826-1831.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 1826-1831
    • Hwa, V.1    Haeusler, G.2    Pratt, K.L.3    Little, B.M.4    Frisch, H.5
  • 31
    • 66149093914 scopus 로고    scopus 로고
    • Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay
    • Fang P, Schwartz ID, Johnson BD, Derr MA, Roberts CT Jr, et al. (2009) Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay. J Clin Endocrinol Metab 94: 1740-1747.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 1740-1747
    • Fang, P.1    Schwartz, I.D.2    Johnson, B.D.3    Derr, M.A.4    Roberts Jr., C.T.5
  • 33
    • 33644864788 scopus 로고    scopus 로고
    • Compartmentalized Ras/MAPK signaling
    • Mor A, Philips MR, (2006) Compartmentalized Ras/MAPK signaling. Annu Rev Immunol 24: 771-800.
    • (2006) Annu Rev Immunol , vol.24 , pp. 771-800
    • Mor, A.1    Philips, M.R.2
  • 34
    • 0037097976 scopus 로고    scopus 로고
    • FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
    • Ornitz DM, Marie PJ, (2002) FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 16: 1446-1465.
    • (2002) Genes Dev , vol.16 , pp. 1446-1465
    • Ornitz, D.M.1    Marie, P.J.2
  • 35
    • 18144391965 scopus 로고    scopus 로고
    • FGF signaling in the developing endochondral skeleton
    • Ornitz DM, (2005) FGF signaling in the developing endochondral skeleton. Cytokine Growth Factor Rev 16: 205-213.
    • (2005) Cytokine Growth Factor Rev , vol.16 , pp. 205-213
    • Ornitz, D.M.1
  • 36
    • 13044278311 scopus 로고    scopus 로고
    • A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3
    • Wang Y, Spatz MK, Kannan K, Hayk H, Avivi A, et al. (1999) A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. Proc Natl Acad Sci U S A 96: 4455-4460.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 4455-4460
    • Wang, Y.1    Spatz, M.K.2    Kannan, K.3    Hayk, H.4    Avivi, A.5
  • 37
    • 0029928791 scopus 로고    scopus 로고
    • Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3
    • Colvin JS, Bohne BA, Harding GW, McEwen DG, Ornitz DM, (1996) Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet 12: 390-397.
    • (1996) Nat Genet , vol.12 , pp. 390-397
    • Colvin, J.S.1    Bohne, B.A.2    Harding, G.W.3    McEwen, D.G.4    Ornitz, D.M.5
  • 38
    • 0029917507 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 3 is a negative regulator of bone growth
    • Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P, (1996) Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84: 911-921.
    • (1996) Cell , vol.84 , pp. 911-921
    • Deng, C.1    Wynshaw-Boris, A.2    Zhou, F.3    Kuo, A.4    Leder, P.5
  • 39
    • 0033151612 scopus 로고    scopus 로고
    • FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway
    • Sahni M, Ambrosetti DC, Mansukhani A, Gertner R, Levy D, et al. (1999) FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway. Genes Dev 13: 1361-1366.
    • (1999) Genes Dev , vol.13 , pp. 1361-1366
    • Sahni, M.1    Ambrosetti, D.C.2    Mansukhani, A.3    Gertner, R.4    Levy, D.5
  • 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, et al. (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


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