References1..
Crowe FW, Schull W: Diagnostic importance of café-au-lait spot in neurofibromatosis. Arch Intern Med 1953; 91:758-766.3..
Obringer AC, Meadows AT, Zackai EH: The diagnosis of neurofibromatosis-1 in the child under the age of 6 years. Am J Dis Child 1989; 143:717-719.5..
Listernick R, Charrow J, Greenwald M, et al: Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. J Pediatr 1994; 125:63-66.8..
Listernick R, Darling C, Greenwald M, et al: Optic pathway tumors in children: the effect of neurofibromatosis type 1 on clinical manifestations and natural history. J Pediatr 1995; 127:718-722.10..
Louis DN, Ohgaki H, Wiestler OD, et al: WHO Classification of Tumours of the Central Nervous System.
4th edn. Lyon: IARC Press, 2007.
11..
Friedman JM, Riccardi VM: Neurofibromatosis: Phenotype, Natural History, and Pathogenesis.
3rd edn. Baltimore, Johns Hopkins University Press, 1999.
12..
Stephens K, Kayes L, Riccardi VM, et al: Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum Genet 1992; 88:279-282.13..
De Raedt T, Brems H, Wolkenstein P, et al: Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet 2003; 72:1288-1292.14..
Leppig KA, Kaplan P, Viskochil D, et al: Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata. Am J Med Genet 1997; 73:197-204.15..
Knudson Jr AG: Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad. Sci USA 1971; 68:820-823.17..
Viskochil D, Buchberg AM, Xu G, et al: Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990; 62:187-192.18..
Wallace MR, Marchuk DA, Andersen LB, et al: Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990; 249:181-186.19..
Cawthon RM, Weiss R, Xu GF, et al: A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990; 62:193-201.20..
Marchuk DA, Saulino AM, Tavakkol R, et al: cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics 1991; 11:931-940.21..
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; 63:835-841.22..
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; 63:851-859.23..
Martin GA, Viskochil D, Bollag G, et al: The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 1990; 63:843-849.24..
Bollag G, Clapp DW, Shih S, et al: Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells. Nat Genet 1996; 12:144-148.25..
Lau N, Feldkamp MM, Roncari L, et al: Loss of neurofibromin is associated with activation of RAS/MAPK and PI3-K/AKT signaling in a neurofibromatosis 1 astrocytoma. J Neuropathol Exp Neurol 2000; 59:759-767.26..
DeClue JE, Papageorge AG, Fletcher JA, et al: Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. Cell 1992; 69:265-273.27..
Basu TN, Gutmann DH, Fletcher JA, et al: Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 1992; 356:713-715.28..
Dasgupta B, Li W, Perry A, et al: Glioma formation in neurofibromatosis 1 reflects preferential activation of K-RAS in astrocytes. Cancer Res 2005; 65:236-245.29..
Dasgupta B, Yi Y, Chen DY, et al: Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumors. Cancer Res 2005; 65:2755-2760.30..
Johannessen CM, Reczek EE, James MF, et al: The NF1 tumor suppressor critically regulates TSC2 and mTOR. Proc Natl Acad. Sci USA 2005; 102:8573-8578.31..
Hiatt KK, Ingram DA, Zhang Y, et al: Neurofibromin GTPase-activating protein-related domains restore normal growth in Nf1–/– cells. J Biol Chem 2001; 276:7240-7245.32..
Donovan S, See W, Bonifas J, et al: Hyperactivation of protein kinase B and ERK have discrete effects on survival, proliferation, and cytokine expression in Nf1-deficient myeloid cells. Cancer Cell 2002; 2:507-514.33..
Yang FC, Chen S, Robling AG, et al: Hyperactivation of p21ras and PI3K cooperate to alter murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions. J Clin Invest 2006; 116:2880-2891.34..
Tong J, Hannan F, Zhu Y, et al: Neurofibromin regulates G protein-stimulated adenylyl cyclase activity. Nat Neurosci 2002; 5:95-96.35..
Hannan F, Ho I, Tong JJ, et al: Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. Hum Mol Genet 2006; 15:1087-1098.36..
Dasgupta B, Dugan LL, Gutmann DH: The neurofibromatosis 1 gene product neurofibromin regulates pituitary adenylate cyclase-activating polypeptide-mediated signaling in astrocytes. J Neurosci 2003; 23:8949-8954.37..
Yang L, Jackson E, Woerner BM, et al: Blocking CXCR4-mediated cyclic AMP suppression inhibits brain tumor growth in vivo. Cancer Res 2007; 67:651-658.38..
Wang L, Liu F, Adamo ML: Cyclic AMP inhibits extracellular signal-regulated kinase and phosphatidylinositol 3-kinase/Akt pathways by inhibiting Rap1. J Biol Chem 2001; 276:37242-37249.39..
Dugan LL, Kim JS, Zhang Y, et al: Differential effects of cAMP in neurons and astrocytes. Role of B-raf. Journal of Biological Chemistry 1999; 274(36):25842-25848.40..
Warrington NM, Woerner BM, Daginakatte GC, et al: Spatiotemporal differences in CXCL12 expression and cyclic AMP underlie the unique pattern of optic glioma growth in neurofibromatosis type 1. Cancer Res 2007; 67:8588-8595.41..
Gutmann DH, Hunter-Schaedle K, Shannon KM: Harnessing preclinical mouse models to inform human clinical cancer trials. J Clin Invest 2006; 116:847-852.42..
Bajenaru ML, Zhu Y, Hedrick NM, et al: Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation. Mol Cell Biol 2002; 22:5100-5113.44..
Zhu Y, Harada T, Liu L, et al: Inactivation of NF1 in CNS causes increased glial progenitor proliferation and optic glioma formation. Development 2005; 132:5577-5588.46..
Banerjee D, Hegedus B, Gutmann DH, et al: Detection and measurement of neurofibromatosis-1 mouse optic glioma in vivo. Neuroimage 2007; 35:1434-1437.47..
Dasgupta B, Yi Y, Hegedus B, et al: Cerebrospinal fluid proteomic analysis reveals dysregulation of methionine aminopeptidase-2 expression in human and mouse neurofibromatosis 1-associated glioma. Cancer Res 2005; 65:9843-9850.48..
Reilly KM, Tuskan RG, Christy E, et al: Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects. Proc Natl Acad Sci USA 2004; 101:13008-13013.49..
Daginakatte GC, Gutmann DH: Neurofibromatosis-1 (Nf1) heterozygous brain microglia elaborate paracrine factors that promote Nf1-deficient astrocyte and glioma growth. Hum Mol Genet 2007; 16:1098-1112.50..
Singh SK, Clarke ID, Terasaki M, et al: Identification of a cancer stem cell in human brain tumors. Cancer Res 2003; 63:5821-5828.51..
Singh SK, Hawkins C, Clarke ID, et al: Identification of human brain tumour initiating cells [see comment]. Nature 2004; 432:396-401.52..
Bao S, Wu Q, McLendon RE, et al: Glioma stem cells promote radioresistance by preferential activation of the DNA damage response [see comment]. Nature 2006; 444:756-760.