메뉴 건너뛰기




Volumn 106, Issue 12, 2009, Pages 4736-4741

Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation

Author keywords

Cardiac development; Cardiac valves; Human disease; Signal transduction protein tyrosine phosphatase

Indexed keywords

K RAS PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN; SOS PROTEIN; PROTEIN KINASE B; PTPN11 PROTEIN, MOUSE;

EID: 63849250390     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0810053106     Document Type: Article
Times cited : (97)

References (33)
  • 1
    • 0027993959 scopus 로고    scopus 로고
    • Noonan JA (1994) Noonan syndrome. An update and review for the primary pediatrician. Clinical Pediatrics 33:548-555. 2. Tartaglia M, Gelb BD (2005) Noonan syndrome and related disorders: Genetics and pathogenesis. Annual Review of Genomics and Human Genetics 6:45-68.
    • Noonan JA (1994) Noonan syndrome. An update and review for the primary pediatrician. Clinical Pediatrics 33:548-555. 2. Tartaglia M, Gelb BD (2005) Noonan syndrome and related disorders: Genetics and pathogenesis. Annual Review of Genomics and Human Genetics 6:45-68.
  • 3
    • 0038771965 scopus 로고    scopus 로고
    • The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling
    • Neel BG, Gu H, Pao L (2003) The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling. Trends Biochem Sci 28:284-293.
    • (2003) Trends Biochem Sci , vol.28 , pp. 284-293
    • Neel, B.G.1    Gu, H.2    Pao, L.3
  • 4
    • 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
  • 5
    • 49149115868 scopus 로고    scopus 로고
    • The RAS/MAPK syndromes: Novel rolesofthe RASpathwayin human geneticdisorders
    • Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y (2008) The RAS/MAPK syndromes: Novel rolesofthe RASpathwayin human geneticdisorders. HumMutat29:992-1006.
    • (2008) HumMutat29 , pp. 992-1006
    • Aoki, Y.1    Niihori, T.2    Narumi, Y.3    Kure, S.4    Matsubara, Y.5
  • 6
    • 4444320851 scopus 로고    scopus 로고
    • Heart valve development: Endothelial cell signaling and differentiation
    • Armstrong EJ, Bischoff J (2004) Heart valve development: Endothelial cell signaling and differentiation. Circ Res 95:459-470.
    • (2004) Circ Res , vol.95 , pp. 459-470
    • Armstrong, E.J.1    Bischoff, J.2
  • 7
    • 0029142767 scopus 로고
    • Neural crest and cardiovascular patterning
    • Kirby ML, Waldo KL (1995) Neural crest and cardiovascular patterning. Circ Res 77:211-215.
    • (1995) Circ Res , vol.77 , pp. 211-215
    • Kirby, M.L.1    Waldo, K.L.2
  • 8
    • 33846217879 scopus 로고    scopus 로고
    • A critical role for the EphA3 receptor tyrosine kinase in heart development
    • Stephen LJ, Fawkes AL, Verhoeve A, Lemke G, Brown A (2007) A critical role for the EphA3 receptor tyrosine kinase in heart development. Dev Biol 302:66-79.
    • (2007) Dev Biol , vol.302 , pp. 66-79
    • Stephen, L.J.1    Fawkes, A.L.2    Verhoeve, A.3    Lemke, G.4    Brown, A.5
  • 9
    • 0038545609 scopus 로고    scopus 로고
    • Fibroblast growth factor (FGF)-4 can induce proliferation of cardiac cushion mesenchymal cells during early valve leaflet formation
    • Sugi Y, et al. (2003) Fibroblast growth factor (FGF)-4 can induce proliferation of cardiac cushion mesenchymal cells during early valve leaflet formation. Dev Biol 258:252-263.
    • (2003) Dev Biol , vol.258 , pp. 252-263
    • Sugi, Y.1
  • 10
    • 4043056497 scopus 로고    scopus 로고
    • Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation
    • Araki T, et al. (2004) Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. Nat Med 10:849-857.
    • (2004) Nat Med , vol.10 , pp. 849-857
    • Araki, T.1
  • 11
    • 24744465207 scopus 로고    scopus 로고
    • Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes
    • Keilhack H, David FS, McGregor M, Cantley LC, Neel BG (2005) Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. J Biol Chem 280:30984-30993.
    • (2005) J Biol Chem , vol.280 , pp. 30984-30993
    • Keilhack, H.1    David, F.S.2    McGregor, M.3    Cantley, L.C.4    Neel, B.G.5
  • 12
    • 34547656112 scopus 로고    scopus 로고
    • Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome
    • Nakamura T, et al. (2007) Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome. J Clin Invest 117:2123-2132.
    • (2007) J Clin Invest , vol.117 , pp. 2123-2132
    • Nakamura, T.1
  • 13
    • 0037229065 scopus 로고    scopus 로고
    • Nf1 has an essential role in endothelial cells
    • Gitler AD, et al. (2003) Nf1 has an essential role in endothelial cells. Nat Genet 33:75-79.
    • (2003) Nat Genet , vol.33 , pp. 75-79
    • Gitler, A.D.1
  • 14
    • 55949088852 scopus 로고    scopus 로고
    • Mouse and human phenotypes indicate a critical conserved role forERK2signalingin neural crest development
    • Newbern J, et al. (2008) Mouse and human phenotypes indicate a critical conserved role forERK2signalingin neural crest development. Proc Natl Acad Sci USA 105:17115-17120.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 17115-17120
    • Newbern, J.1
  • 15
    • 0038278866 scopus 로고    scopus 로고
    • SomaticmutationsinPTPN11 injuvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
    • TartagliaM,et al. (2003). SomaticmutationsinPTPN11 injuvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 34:148-150.
    • (2003) Nat Genet , vol.34 , pp. 148-150
    • TartagliaM1
  • 16
    • 0037022660 scopus 로고    scopus 로고
    • Endocardial cushion and myocardial defects after cardiac myocyte-specific conditional deletion of the bone morphogenetic protein receptor ALK3
    • Gaussin V, et al. (2002) Endocardial cushion and myocardial defects after cardiac myocyte-specific conditional deletion of the bone morphogenetic protein receptor ALK3. Proc Natl Acad Sci USA 99:2878-2883.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 2878-2883
    • Gaussin, V.1
  • 17
    • 4644317085 scopus 로고    scopus 로고
    • Lineage and morphogenetic analysis of the cardiac valves
    • de Lange F, et al. (2004)Lineage and morphogenetic analysis of the cardiac valves. Circ Res 95:645-654.
    • (2004) Circ Res , vol.95 , pp. 645-654
    • de Lange, F.1
  • 18
    • 15144348922 scopus 로고    scopus 로고
    • Extracellular fibrillar structure of latent TGF beta binding protein-1: Role in TGF beta-dependentendothelial-mesenchymal transformation during endocardial cushion tissue formation in mouseembryonicheart
    • Nakajima Y, et al. (1997) Extracellular fibrillar structure of latent TGF beta binding protein-1: Role in TGF beta-dependentendothelial-mesenchymal transformation during endocardial cushion tissue formation in mouseembryonicheart. J Cell Biol 136:193-204.
    • (1997) J Cell Biol , vol.136 , pp. 193-204
    • Nakajima, Y.1
  • 19
    • 0036344533 scopus 로고    scopus 로고
    • Heart-valve mesenchyme formation isdependenton hyaluronan-augmented activation of ErbB2-ErbB3 receptors
    • Camenisch TD, Schroeder JA, Bradley J, Klewer SE, McDonald JA (2002) Heart-valve mesenchyme formation isdependenton hyaluronan-augmented activation of ErbB2-ErbB3 receptors. Nat Med 8:850-855.
    • (2002) Nat Med , vol.8 , pp. 850-855
    • Camenisch, T.D.1    Schroeder, J.A.2    Bradley, J.3    Klewer, S.E.4    McDonald, J.A.5
  • 20
    • 0032531929 scopus 로고    scopus 로고
    • Crystal structure of an angiogenesis inhibitor bound to the FGF receptor tyrosine kinase domain
    • Mohammadi M,et al. (1998)Crystal structure of an angiogenesis inhibitor bound to the FGF receptor tyrosine kinase domain. EMBO J 17:5896-5904.
    • (1998) EMBO J , vol.17 , pp. 5896-5904
    • Mohammadi, M.1
  • 21
    • 18344370436 scopus 로고    scopus 로고
    • PTPN11 mutations in Noon an syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
    • Tartaglia M, et al. (2002) PTPN11 mutations in Noon an syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70:1555-1563.
    • (2002) Am J Hum Genet , vol.70 , pp. 1555-1563
    • Tartaglia, M.1
  • 22
    • 12144286459 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in Noonan syndrome
    • Zenker M, et al. (2004) Genotype-phenotype correlations in Noonan syndrome. J Pediatr (Berlin)144:368-374.
    • (2004) J Pediatr (Berlin , vol.144 , pp. 368-374
    • Zenker, M.1
  • 24
    • 0031647555 scopus 로고    scopus 로고
    • Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal transformation in the developing heart
    • Lakkis MM, Epstein JA (1998) Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal transformation in the developing heart. Development (Cambridge, UK) 125:4359-4367.
    • (1998) Development (Cambridge, UK) , vol.125 , pp. 4359-4367
    • Lakkis, M.M.1    Epstein, J.A.2
  • 25
    • 26844438820 scopus 로고    scopus 로고
    • Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal- regulated kinase 1/2 signaling
    • Krenz M, Yutzey KE, Robbins J (2005) Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal- regulated kinase 1/2 signaling. Circ Res 97:813-820.
    • (2005) Circ Res , vol.97 , pp. 813-820
    • Krenz, M.1    Yutzey, K.E.2    Robbins, J.3
  • 26
    • 43749091321 scopus 로고    scopus 로고
    • A novel role of vascular endothelial cadherin in modulating c-Srcactivation and downstream signaling of vascular endothelial growth factor
    • Ha CH, Bennett AM, Jin ZG (2008) A novel role of vascular endothelial cadherin in modulating c-Srcactivation and downstream signaling of vascular endothelial growth factor. J Biol Chem 283:7261-7270.
    • (2008) J Biol Chem , vol.283 , pp. 7261-7270
    • Ha, C.H.1    Bennett, A.M.2    Jin, Z.G.3
  • 27
    • 0030685807 scopus 로고    scopus 로고
    • Severeneuropathiesin mice with targeted mutations in the ErbB3 receptor
    • RiethmacherD et al (1997)Severeneuropathiesin mice with targeted mutations in the ErbB3 receptor. Nature 389:725-730.
    • (1997) Nature , vol.389 , pp. 725-730
    • RiethmacherD1
  • 28
    • 0344924865 scopus 로고    scopus 로고
    • Neuregulin-1 protects ventricular myocytes from anthracy- cline-induced apoptosis via erbB4-dependent activation of PI3-kinase/Akt
    • Fukazawa R, et al. (2003) Neuregulin-1 protects ventricular myocytes from anthracy- cline-induced apoptosis via erbB4-dependent activation of PI3-kinase/Akt. J Mol Cell Cardiol 35:1473-1479.
    • (2003) J Mol Cell Cardiol , vol.35 , pp. 1473-1479
    • Fukazawa, R.1
  • 30
    • 33847061736 scopus 로고    scopus 로고
    • Erlotinib directly inhibits HER2 kinase activation and downstream signaling events in intact cells lacking epidermal growth factor receptor expression
    • Schaefer G, Shao L, Totpal K, Akita RW (2007) Erlotinib directly inhibits HER2 kinase activation and downstream signaling events in intact cells lacking epidermal growth factor receptor expression. Cancer Res 67:1228-1238.
    • (2007) Cancer Res , vol.67 , pp. 1228-1238
    • Schaefer, G.1    Shao, L.2    Totpal, K.3    Akita, R.W.4
  • 31
    • 33750367434 scopus 로고    scopus 로고
    • Development of heart valves requires Gata4 expression in endothelial-derived cells
    • Rivera-FelicianoJ, et al. (2006) Development of heart valves requires Gata4 expression in endothelial-derived cells. Development 133:3607-3618.
    • (2006) Development , vol.133 , pp. 3607-3618
    • Rivera-FelicianoJ1
  • 32
    • 63849313577 scopus 로고    scopus 로고
    • Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis
    • in press
    • Chan G,et al. (2009)Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis. Blood, in press.
    • (2009) Blood
    • Chan, G.1
  • 33
    • 57749114779 scopus 로고    scopus 로고
    • Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome
    • Krenz M, et al. (2008) Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome. Proc Natl Acad Sci USA 105:18930-18935.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 18930-18935
    • Krenz, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.