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Genes, Neurofibromatosis 1

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  1. The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae. Xu, G.F., Lin, B., Tanaka, K., Dunn, D., Wood, D., Gesteland, R., White, R., Weiss, R., Tamanoi, F. Cell (1990) [Pubmed]
  2. Transcriptional repression of the Neurofibromatosis-1 tumor suppressor by the t(8;21) fusion protein. Yang, G., Khalaf, W., van de Locht, L., Jansen, J.H., Gao, M., Thompson, M.A., van der Reijden, B.A., Gutmann, D.H., Delwel, R., Clapp, D.W., Hiebert, S.W. Mol. Cell. Biol. (2005) [Pubmed]
  3. Analysis of the GAP-related domain of the neurofibromatosis type 1 (NF1) gene in childhood brain tumors. Scheurlen, W.G., Senf, L. Int. J. Cancer (1995) [Pubmed]
  4. Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma. Gutzmer, R., Herbst, R.A., Mommert, S., Kiehl, P., Matiaske, F., Rütten, A., Kapp, A., Weiss, J. Hum. Genet. (2000) [Pubmed]
  5. Reduced expression of neurofibromin in human meningiomas. Sundaram, V., Lee, J.H., Harwalkar, J.A., Stein, D.J., Roudebush, M., Stacey, D.W., Golubic, M. Br. J. Cancer (1997) [Pubmed]
  6. A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features. Oktenli, C., Saglam, M., Demirbas, S., Thompson, P., Upadhyaya, M., Consoli, C., Ulucan, H., Koz, C., Durukan, A.H., Bozkurt, A., Koc, B., Kocar, I.H., Gul, D. Clin. Dysmorphol. (2003) [Pubmed]
  7. Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia. Largaespada, D.A., Brannan, C.I., Jenkins, N.A., Copeland, N.G. Nat. Genet. (1996) [Pubmed]
  8. Bcr encodes a GTPase-activating protein for p21rac. Diekmann, D., Brill, S., Garrett, M.D., Totty, N., Hsuan, J., Monfries, C., Hall, C., Lim, L., Hall, A. Nature (1991) [Pubmed]
  9. Progress towards identifying the neurofibromatosis (NF1) gene. Collins, F.S., O'Connell, P., Ponder, B.A., Seizinger, B.R. Trends Genet. (1989) [Pubmed]
  10. A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. Diehl, S.R., Boehnke, M., Erickson, R.P., Ploughman, L.M., Seiler, K.A., Lieberman, J.L., Clarke, H.B., Bruce, M.A., Schorry, E.K., Pericak-Vance, M. Am. J. Hum. Genet. (1989) [Pubmed]
  11. Post-transcriptional down-regulation of expression of transcription factor NF1 by Ha-ras oncogene. Nebl, G., Mermod, N., Cato, A.C. J. Biol. Chem. (1994) [Pubmed]
  12. Expression of the GTPase activating domain of the neurofibromatosis type 1 (NF1) gene in Escherichia coli and role of the conserved lysine residue. Wiesmüller, L., Wittinghofer, A. J. Biol. Chem. (1992) [Pubmed]
  13. The guanine triphosphatase (GTPase) activating protein (GAP)-related domain of the neurofibromatosis type 1 gene is not mutated in neural crest-derived sporadic tumours. Murgia, A., Anglani, F., Vinanzi, C., Polli, R., Basso, G., Perilongo, G., Giangaspero, F., Zacchello, F. Eur. J. Cancer (1998) [Pubmed]
  14. Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Brannan, C.I., Perkins, A.S., Vogel, K.S., Ratner, N., Nordlund, M.L., Reid, S.W., Buchberg, A.M., Jenkins, N.A., Parada, L.F., Copeland, N.G. Genes Dev. (1994) [Pubmed]
  15. An isochore transition in the NF1 gene region coincides with a switch in the extent of linkage disequilibrium. Eisenbarth, I., Vogel, G., Krone, W., Vogel, W., Assum, G. Am. J. Hum. Genet. (2000) [Pubmed]
  16. Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31. Andrews, J.D., Mancini, D.N., Singh, S.M., Rodenhiser, D.I. Hum. Mol. Genet. (1996) [Pubmed]
  17. Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome. Estivill, X., Cheung, J., Pujana, M.A., Nakabayashi, K., Scherer, S.W., Tsui, L.C. Hum. Mol. Genet. (2002) [Pubmed]
  18. Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene. Hutter, P., Antonarakis, S.E., Delozier-Blanchet, C.D., Morris, M.A. Hum. Mol. Genet. (1994) [Pubmed]
  19. Developmental regulation of a neuron-specific neurofibromatosis 1 isoform. Gutmann, D.H., Zhang, Y., Hirbe, A. Ann. Neurol. (1999) [Pubmed]
  20. The Nf1 tumor suppressor regulates mouse skin wound healing, fibroblast proliferation, and collagen deposited by fibroblasts. Atit, R.P., Crowe, M.J., Greenhalgh, D.G., Wenstrup, R.J., Ratner, N. J. Invest. Dermatol. (1999) [Pubmed]
  21. Increased expression of the neurofibromatosis 1 (NF1) gene product, neurofibromin, in astrocytes in response to cerebral ischemia. Giordano, M.J., Mahadeo, D.K., He, Y.Y., Geist, R.T., Hsu, C., Gutmann, D.H. J. Neurosci. Res. (1996) [Pubmed]
  22. Differential localization of the neurofibromatosis 1 (NF1) gene product, neurofibromin, with the F-actin or microtubule cytoskeleton during differentiation of telencephalic neurons. Li, C., Cheng, Y., Gutmann, D.A., Mangoura, D. Brain Res. Dev. Brain Res. (2001) [Pubmed]
  23. Antibody against neurofibromatosis type 1 gene product reacts with a triton-insoluble GTPase activating protein toward ras p21. Hattori, S., Ohmi, N., Maekawa, M., Hoshino, M., Kawakita, M., Nakamura, S. Biochem. Biophys. Res. Commun. (1991) [Pubmed]
  24. A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. Andersen, L.B., Ballester, R., Marchuk, D.A., Chang, E., Gutmann, D.H., Saulino, A.M., Camonis, J., Wigler, M., Collins, F.S. Mol. Cell. Biol. (1993) [Pubmed]
  25. NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos. Kuorilehto, T., Nissinen, M., Koivunen, J., Benson, M.D., Peltonen, J. J. Bone Miner. Res. (2004) [Pubmed]
  26. The OMgp gene, a second growth suppressor within the NF1 gene. Habib, A.A., Gulcher, J.R., Högnason, T., Zheng, L., Stefánsson, K. Oncogene (1998) [Pubmed]
  27. A deletion in the 5'-region of the neurofibromatosis type 1 (NF1) gene. Hoffmeyer, S., Assum, G., Kaufmann, D., Schwenk, K., Krone, W. Hum. Genet. (1994) [Pubmed]
  28. Two liver-enriched trans-acting factors support the tissue-specific basal transcription from the rat tyrosine aminotransferase promoter. Schweizer-Groyer, G., Groyer, A., Cadepond, F., Grange, T., Baulieu, E.E., Pictet, R. J. Steroid Biochem. Mol. Biol. (1992) [Pubmed]
  29. Genomic characterization of the Neurofibromatosis Type 1 gene of Fugu rubripes. Kehrer-Sawatzki, H., Maier, C., Moschgath, E., Elgar, G., Krone, W. Gene (1998) [Pubmed]
  30. Two single base polymorphisms in introns 41 and 16 of the NF1 gene. Shen, M.H., Upadhyaya, M. Am. J. Med. Genet. (1995) [Pubmed]
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