메뉴 건너뛰기




Volumn 152, Issue 2, 2010, Pages 269-283

What's new in neurofibromatosis? Proceedings from the 2009 NF conference: New frontiers

(15)  Kissil, Joseph L a   Blakeley, Jaishri O b   Ferner, Rosalie E c   Huson, Susan M d   Kalamarides, Michel e,f   Mautner, Victor Felix g   McCormick, Frank h   Morrison, Helen i   Packer, Roger j   Ramesh, Vijaya k   Ratner, Nancy l   Rauen, Katherine A h   Stevenson, David A m   Hunter Schaedle, Kim n   North, Kathryn o  

f INSERM   (France)

Author keywords

Bone dysplasia; Learning disabilities; Neurofibromatosis type 1; Neurofibromatosis type 2; NF1; NF2; Ras MAPK; Schwannomatosis; Tumor suppressor

Indexed keywords

1 (1 CYANO 1 METHYLETHYL) 3 METHYL 8 (3 QUINOLINYL)IMIDAZO[4,5 C]QUINOLIN 2(1H,3H) ONE; DOXYCYCLINE; EVEROLIMUS; IMATINIB; INTERFERON; LAPATINIB; MAMMALIAN TARGET OF RAPAMYCIN INHIBITOR; MEVINOLIN; NX 101; PIRFENIDONE; PROTEIN FARNESYLTRANSFERASE INHIBITOR; PTC 299; RANIBIZUMAB; RAPAMYCIN; SIMVASTATIN; SORAFENIB; UNCLASSIFIED DRUG; VASCULOTROPIN INHIBITOR; VORINOSTAT;

EID: 75449091573     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33189     Document Type: Conference Paper
Times cited : (36)

References (29)
  • 1
    • 52449103743 scopus 로고    scopus 로고
    • Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis
    • Boyd C, Smith MJ, Kluwe L, Balogh A, MacCollin M, Plotkin SR. 2008. Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet 74:358-366.
    • (2008) Clin Genet , vol.74 , pp. 358-366
    • Boyd, C.1    Smith, M.J.2    Kluwe, L.3    Balogh, A.4    MacCollin, M.5    Plotkin, S.R.6
  • 3
    • 34548328245 scopus 로고    scopus 로고
    • Brems H, Chmara M,SahbatouM, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E. 2007. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 39:1120-1126.
    • Brems H, Chmara M,SahbatouM, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E. 2007. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 39:1120-1126.
  • 7
    • 68149150655 scopus 로고    scopus 로고
    • Neurofibromatosis type 2 (NF2): Aclinical and molecular review
    • Evans DG. 2009. Neurofibromatosis type 2 (NF2): Aclinical and molecular review. Orphanet J Rare Dis 4:16.
    • (2009) Orphanet J Rare Dis , vol.4 , pp. 16
    • Evans, D.G.1
  • 9
    • 57449097854 scopus 로고    scopus 로고
    • Altered adhesive structures and their relation to RhoGTPase activation in merlin-deficient Schwannoma
    • Flaiz C, Ammoun S, Biebl A, Hanemann CO. 2009a. Altered adhesive structures and their relation to RhoGTPase activation in merlin-deficient Schwannoma. Brain Pathol 19:27-38.
    • (2009) Brain Pathol , vol.19 , pp. 27-38
    • Flaiz, C.1    Ammoun, S.2    Biebl, A.3    Hanemann, C.O.4
  • 10
    • 67349256384 scopus 로고    scopus 로고
    • PAK kinase regulates Rac GTPase and is a potential target in human schwannomas
    • Flaiz C, Chernoff J, Ammoun S, Peterson JR, Hanemann CO. 2009b. PAK kinase regulates Rac GTPase and is a potential target in human schwannomas. Exp Neurol 218:137-144.
    • (2009) Exp Neurol , vol.218 , pp. 137-144
    • Flaiz, C.1    Chernoff, J.2    Ammoun, S.3    Peterson, J.R.4    Hanemann, C.O.5
  • 12
    • 30344445706 scopus 로고    scopus 로고
    • The tumour-suppressor genes NF2/Merlin and Expanded act through Hippo signalling to regulate cell proliferation and apoptosis
    • Hamaratoglu F, WilleckeM,Kango-SinghM,Nolo R,HyunE,Tao C, Jafar-Nejad H, Halder G. 2006. The tumour-suppressor genes NF2/Merlin and Expanded act through Hippo signalling to regulate cell proliferation and apoptosis. Nat Cell Biol 8:27-36.
    • (2006) Nat Cell Biol , vol.8 , pp. 27-36
    • Hamaratoglu, F.1    Willecke, M.2    Kango-Singh, M.3    Nolo, R.4    Hyun, E.5    Tao, C.6    Jafar-Nejad, H.7    Halder, G.8
  • 16
    • 44849089702 scopus 로고    scopus 로고
    • Kwon CH, Zhao D, Chen J, Alcantara S, Li Y, Burns DK, Mason RP, Lee EY, WuH, Parada LF. 2008. Pten haploinsufficiency accelerates formation of high-grade astrocytomas. Cancer Res 68:3286-3294.
    • Kwon CH, Zhao D, Chen J, Alcantara S, Li Y, Burns DK, Mason RP, Lee EY, WuH, Parada LF. 2008. Pten haploinsufficiency accelerates formation of high-grade astrocytomas. Cancer Res 68:3286-3294.
  • 19
    • 11144267126 scopus 로고    scopus 로고
    • Role of the kinase MST2 in suppression of apoptosis by the proto-oncogene product Raf-1
    • O'Neill E, Rushworth L, Baccarini M, Kolch W. 2004. Role of the kinase MST2 in suppression of apoptosis by the proto-oncogene product Raf-1. Science 306:2267-2270.
    • (2004) Science , vol.306 , pp. 2267-2270
    • O'Neill, E.1    Rushworth, L.2    Baccarini, M.3    Kolch, W.4
  • 20
    • 51249115377 scopus 로고    scopus 로고
    • Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas
    • Patil S, Perry A, MacCollin M, Dong S, Betebsky RA, Yeh TH, Gutmann DH, Stemmer-Rachamimov AO. 2008. Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. Brain Pathol 18:517-519.
    • (2008) Brain Pathol , vol.18 , pp. 517-519
    • Patil, S.1    Perry, A.2    MacCollin, M.3    Dong, S.4    Betebsky, R.A.5    Yeh, T.H.6    Gutmann, D.H.7    Stemmer-Rachamimov, A.O.8
  • 21
    • 67651173054 scopus 로고    scopus 로고
    • Plotkin SR, Stemmer-Rachamimov AO, BarkerFGII, Halpin C, Padera TP, Tyrrell A, Sorensen AG, Jain RK, di Tomaso E. 2009. Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med 361:358-367.
    • Plotkin SR, Stemmer-Rachamimov AO, BarkerFGII, Halpin C, Padera TP, Tyrrell A, Sorensen AG, Jain RK, di Tomaso E. 2009. Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med 361:358-367.
  • 23
    • 46749101035 scopus 로고    scopus 로고
    • Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola P, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labreze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Haagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M. 2008. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 29:959-965.
    • Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola P, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labreze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Haagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M. 2008. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 29:959-965.
  • 25
    • 68649121646 scopus 로고    scopus 로고
    • The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation
    • Tidyman WE, Rauen KA. 2009. The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 19:230-236.
    • (2009) Curr Opin Genet Dev , vol.19 , pp. 230-236
    • Tidyman, W.E.1    Rauen, K.A.2
  • 28
    • 23644443053 scopus 로고    scopus 로고
    • Early inactivation of p53 tumor suppressor gene cooperating with NF1 loss induces malignant astrocytoma
    • ZhuY, Guignard F, Zhao D, Liu L, Burns DK, Mason RP, Messing A, Parada LF. 2005. Early inactivation of p53 tumor suppressor gene cooperating with NF1 loss induces malignant astrocytoma. Cancer Cell 8:119-130.
    • (2005) Cancer Cell , vol.8 , pp. 119-130
    • Zhu, Y.1    Guignard, F.2    Zhao, D.3    Liu, L.4    Burns, D.K.5    Mason, R.P.6    Messing, A.7    Parada, L.F.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.