Identification of NF1 mutations in both alleles of a dermal neurofibroma (original) (raw)
Ballester, R. et al. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell63, 851–859 (1990). ArticleCAS Google Scholar
Martin, G.A. et al. The GAP-related domain of the NF1 gene product interacts with ras p21. Cell63, 843–849 (1990). ArticleCAS Google Scholar
Xu, G. et al. The catalytic domain of the NF1 gene product stimulates ras GTPase and complements IRA mutants of S. Cerevisiae. Cell63, 835–841 (1990). ArticleCAS Google Scholar
Shannon, K. et al. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. New Engl. J. Med.330, 597–601 (1994). ArticleCAS Google Scholar
Xu, W. et al. Loss of NF1 alleles in pheochromocytomas from patients with type 1 neurofibromatosis. Genes Chromosom. & Cancer4, 337–342 (1992). ArticleCAS Google Scholar
Menon, A.G. et al. Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis. Proc. Natl. Acad. Sci U.S.A87, 5435–5439 (1990). ArticleCAS Google Scholar
Skuse, G.R., Kosciolek, B.A. & Rowley, P.T. Loss of heterozygosity in malignancies in von Recklinghausen neurofibromatosis: The allele remaining in the tumor is derived from the affected parent. Am. J. Hum. Genet.49, 600–607 (1990). Google Scholar
Glover, T.W. et al. Molecular and cytogenetic analysis of tumors in von Recklinghausen neurofibromatosis. Genes Chrom. Cancer3, 62–70 (1991). ArticleCAS Google Scholar
Basu, T. et al. Aberrant regulation of RAS proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature356, 713–715 (1992). ArticleCAS Google Scholar
DeClue, J.E. et al. Abnormal regulation of mammalian p21 contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. Cell69, 265–273 (1992). ArticleCAS Google Scholar
Legius, E., Marchuk, D., Collins, F. & Glover, T. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nature Genet.3, 122–126 (1993). ArticleCAS Google Scholar
Reynolds, J. et al. Molecular characterization of a 17q11.2 translocation in a malignant schwannoma cell line. Hum. Genet.90, 450–456 (1992). ArticleCAS Google Scholar
Anderson, L. et al. Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines. Nature Genet.3, 118–121 (1993). Article Google Scholar
Skuse, G.R., Kosciolek, B.A. & Rowley, P.T. Molecular genetic analysis of tumors in von Recklinghausen neurofibromatosis: Loss of heterozygosity for chromosome 17. Genes Chrom. Cancer1, 36–41 (1989). ArticleCAS Google Scholar
Shimizu, E. et al. Loss of heterozygosity on chromosome arm 17p in small cell lung carcinomas but not in neurofibromas, in a patient with von Recklinghausen neurofibromatosis. Cancer71, 725–728 (1993). ArticleCAS Google Scholar
Lothe, R. et al. Alterations at chromosome 17 loci in peripheral nerve sheath tumors. J. Neuropath. Exp. Neurol.54, 65–73 (1995). ArticleCAS Google Scholar
Colman, S.D., Williams, C.A. & Wallace, M.R. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Nature Genet.11, 90–92 (1995). ArticleCAS Google Scholar
Kayes, L. et al. Deletions spanning the neurofibromatosis 1 gene: Identification and phenotype of five patients. Am. J. Hum. Genet.54, 424–436 (1994). CASPubMedPubMed Central Google Scholar
Leppig, K. et al. The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization. Cytogenet. Cell Genet.72, 95–98 (1996). ArticleCAS Google Scholar
Marchuk, D. et al. A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene. Genomics13, 672–680 (1992). ArticleCAS Google Scholar
Sawada, S. & Vlskochil, D. Detection of a germline mutation at the neurofibromatosis 1 locus. Jap. J. Dermatol.105, 1187–1196 (1995). CAS Google Scholar
Li, Y. et al. Genomic Organization of the neurofibromatosis 1 (NF1) locus. Genomics25, 9–18 (1995). ArticleCAS Google Scholar
Marchuk, D.A. et al. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics11, 931–40 (1991). ArticleCAS Google Scholar
Bollag, G. et al. Loss of NF1 results in activation of the ras signalling pathway and leads to aberrant growth in haematopoietic cells. Nafure Genet.12, 144–148, (1996). CAS Google Scholar
Largaespada, D., Brannan, C., Jenkins, N. & Copeland, N. Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukemia . Nature Genet.12, 137–143 (1996). ArticleCAS Google Scholar
Fialkow, P.J., Sagebiel, R.W., Gartler, S.M. & Rimoin, D.I. Multiple cell origin of hereditary neurofibromas. New Engl. J. Med.284, 298–300 (1971). ArticleCAS Google Scholar
Skuse, G., Kosciolek, B. & Rowley, P. The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin. Am. J. Hum. Genet.49, 600–607 (1991). CASPubMedPubMed Central Google Scholar
Enzinger, F. & Weiss, S. Benign tumors of peripheral nerves. in Soft tissue Tumors. (eds Gay, S. & Gery, L) 821–885 (Mosby-Yearbook, St. Louis, 1988). Google Scholar
Samowitz, W., Slattery, M.L. & Kerber, R.A. Microsatellite instability in human colonic cancer is not a useful clinical indicator of familial colorectal cancer. Gastroent.109, 1765–1771 (1995). ArticleCAS Google Scholar
Sambrook, J., Fritsch, E. & Maniatis, T. Molecular Cloning: A Laboratory Manual. 2nd edn. (Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, 1989). Google Scholar