MeSH Review:
Neurofibromatoses
- Identification of NF1 mutations in both alleles of a dermal neurofibroma. Sawada, S., Florell, S., Purandare, S.M., Ota, M., Stephens, K., Viskochil, D. Nat. Genet. (1996)
- Ras signaling and NF1. McCormick, F. Curr. Opin. Genet. Dev. (1995)
- Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gallinger, S., Aronson, M., Shayan, K., Ratcliffe, E.M., Gerstle, J.T., Parkin, P.C., Rothenmund, H., Croitoru, M., Baumann, E., Durie, P.R., Weksberg, R., Pollett, A., Riddell, R.H., Ngan, B.Y., Cutz, E., Lagarde, A.E., Chan, H.S. Gastroenterology (2004)
- Mixed-lineage kinase 3 regulates B-Raf through maintenance of the B-Raf/Raf-1 complex and inhibition by the NF2 tumor suppressor protein. Chadee, D.N., Xu, D., Hung, G., Andalibi, A., Lim, D.J., Luo, Z., Gutmann, D.H., Kyriakis, J.M. Proc. Natl. Acad. Sci. U.S.A. (2006)
- Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis. Menon, A.G., Anderson, K.M., Riccardi, V.M., Chung, R.Y., Whaley, J.M., Yandell, D.W., Farmer, G.E., Freiman, R.N., Lee, J.K., Li, F.P. Proc. Natl. Acad. Sci. U.S.A. (1990)
- Blood gene expression profiling of neurologic diseases: a pilot microarray study. Tang, Y., Gilbert, D.L., Glauser, T.A., Hershey, A.D., Sharp, F.R. Arch. Neurol. (2005)
- A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. Jenne, D.E., Tinschert, S., Stegmann, E., Reimann, H., Nürnberg, P., Horn, D., Naumann, I., Buske, A., Thiel, G. Genomics (2000)
- Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Upadhyaya, M., Ruggieri, M., Maynard, J., Osborn, M., Hartog, C., Mudd, S., Penttinen, M., Cordeiro, I., Ponder, M., Ponder, B.A., Krawczak, M., Cooper, D.N. Hum. Genet. (1998)
- Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin. Scoles, D.R., Huynh, D.P., Morcos, P.A., Coulsell, E.R., Robinson, N.G., Tamanoi, F., Pulst, S.M. Nat. Genet. (1998)
- Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. Side, L., Taylor, B., Cayouette, M., Conner, E., Thompson, P., Luce, M., Shannon, K. N. Engl. J. Med. (1997)
- Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Bianchi, A.B., Hara, T., Ramesh, V., Gao, J., Klein-Szanto, A.J., Morin, F., Menon, A.G., Trofatter, J.A., Gusella, J.F., Seizinger, B.R. Nat. Genet. (1994)
- A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Trofatter, J.A., MacCollin, M.M., Rutter, J.L., Murrell, J.R., Duyao, M.P., Parry, D.M., Eldridge, R., Kley, N., Menon, A.G., Pulaski, K. Cell (1993)
- A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Trofatter, J.A., MacCollin, M.M., Rutter, J.L., Murrell, J.R., Duyao, M.P., Parry, D.M., Eldridge, R., Kley, N., Menon, A.G., Pulaski, K. Cell (1993)
- DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. MacCollin, M., Mohney, T., Trofatter, J., Wertelecki, W., Ramesh, V., Gusella, J. JAMA (1993)
- The GTPase stimulatory activities of the neurofibromatosis type 1 and the yeast IRA2 proteins are inhibited by arachidonic acid. Golubić, M., Tanaka, K., Dobrowolski, S., Wood, D., Tsai, M.H., Marshall, M., Tamanoi, F., Stacey, D.W. EMBO J. (1991)
- C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme. Mukhopadhyay, D., Anant, S., Lee, R.M., Kennedy, S., Viskochil, D., Davidson, N.O. Am. J. Hum. Genet. (2002)
- Functional significance of lysine 1423 of neurofibromin and characterization of a second site suppressor which rescues mutations at this residue and suppresses RAS2Val-19-activated phenotypes. Poullet, P., Lin, B., Esson, K., Tamanoi, F. Mol. Cell. Biol. (1994)
- Tissue culture studies of neurofibromatosis: effects of axolemmal fragments and cyclic adenosine 3',5'-monophosphate analogues on proliferation of Schwann-like and fibroblast-like neurofibroma cells. Sobue, G., Sonnenfeld, K., Rubenstein, A.E., Pleasure, D. Ann. Neurol. (1985)
- Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred. Wertelecki, W., Rouleau, G.A., Superneau, D.W., Forehand, L.W., Williams, J.P., Haines, J.L., Gusella, J.F. N. Engl. J. Med. (1988)
- Regulation of Ras-GAP and the neurofibromatosis-1 gene product by eicosanoids. Han, J.W., McCormick, F., Macara, I.G. Science (1991)
- Structure and chromosomal localization of the gene for the oligodendrocyte-myelin glycoprotein. Mikol, D.D., Alexakos, M.J., Bayley, C.A., Lemons, R.S., Le Beau, M.M., Stefansson, K. J. Cell Biol. (1990)
- Island rescue PCR: a rapid and efficient method for isolating transcribed sequences from yeast artificial chromosomes and cosmids. Valdes, J.M., Tagle, D.A., Collins, F.S. Proc. Natl. Acad. Sci. U.S.A. (1994)
- Type 1 neurofibromatosis: selective expression of extracellular matrix genes by Schwann cells, perineurial cells, and fibroblasts in mixed cultures. Jaakkola, S., Peltonen, J., Riccardi, V., Chu, M.L., Uitto, J. J. Clin. Invest. (1989)
- Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities. Baser, M.E., Kluwe, L., Mautner, V.F. Am. J. Hum. Genet. (1999)
- Immunolocalization of a glycosylphosphatidylinositol-specific phospholipase D in mast cells found in normal tissue and neurofibromatosis lesions. Metz, C.N., Thomas, P., Davitz, M.A. Am. J. Pathol. (1992)
- The neurofibromatosis type 1 gene product neurofibromin enhances cell motility by regulating actin filament dynamics via the Rho-ROCK-LIMK2-cofilin pathway. Ozawa, T., Araki, N., Yunoue, S., Tokuo, H., Feng, L., Patrakitkomjorn, S., Hara, T., Ichikawa, Y., Matsumoto, K., Fujii, K., Saya, H. J. Biol. Chem. (2005)
- Cell cycle-dependent nucleocytoplasmic shuttling of the neurofibromatosis 2 tumour suppressor merlin. Muranen, T., Grönholm, M., Renkema, G.H., Carpén, O. Oncogene (2005)
- The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Martin, G.A., Viskochil, D., Bollag, G., McCabe, P.C., Crosier, W.J., Haubruck, H., Conroy, L., Clark, R., O'Connell, P., Cawthon, R.M. Cell (1990)
- Structural analysis of the GAP-related domain from neurofibromin and its implications. Scheffzek, K., Ahmadian, M.R., Wiesmüller, L., Kabsch, W., Stege, P., Schmitz, F., Wittinghofer, A. EMBO J. (1998)
- The pressure rises: update on the genetics of phaeochromocytoma. Maher, E.R., Eng, C. Hum. Mol. Genet. (2002)
- The neurofibromatosis 2 tumor suppressor protein interacts with hepatocyte growth factor-regulated tyrosine kinase substrate. Scoles, D.R., Huynh, D.P., Chen, M.S., Burke, S.P., Gutmann, D.H., Pulst, S.M. Hum. Mol. Genet. (2000)
- A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus. Watson, C.J., Gaunt, L., Evans, G., Patel, K., Harris, R., Strachan, T. Hum. Mol. Genet. (1993)
- Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers. Lebo, R.V., Lynch, E.D., Bird, T.D., Golbus, M.S., Barker, D.F., O'Connell, P., Chance, P.F. Am. J. Hum. Genet. (1992)
- Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. Jorde, L.B., Watkins, W.S., Viskochil, D., O'Connell, P., Ward, K. Am. J. Hum. Genet. (1993)
- Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesis. Gutmann, D.H., Boguski, M., Marchuk, D., Wigler, M., Collins, F.S., Ballester, R. Oncogene (1993)
- A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage. Rodenhiser, D.I., Ainsworth, P.J., Coulter-Mackie, M.B., Singh, S.M., Jung, J.H. J. Med. Genet. (1993)
- Denervation in von Recklinghausen's neurofibromatosis (NF-1) leads to fewer and smaller neurofibromas. Riccardi, V.M., Powell, P.P. Neurology (1988)