Accès gratuit
Numéro
Med Sci (Paris)
Volume 17, Numéro 11, Novembre 2001
Page(s) 1158 - 1167
Section Articles de Synthèse
DOI https://doi.org/10.1051/medsci/200117111158
Publié en ligne 15 novembre 2001
  1. Huson SM. The neurofibromatoses : a pathogenetic and clinical overview, 1st ed. London : Chapmann and Hall, 1994.
  2. Viskochil D. Neurofibromatosis 1. Introduction. Am J Med Genet 1999; 89 : v-viii.
  3. Barker D, Wright E, Nguyen K, et al. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 1987; 236 : 1100–2.
  4. 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 : 931–40.
  5. Gutmann DH, Wood DL, Collins FS. Identification of the neurofibromatosis type 1 gene product. Proc Natl Acad Sci USA 1991; 88 : 9658–62.
  6. 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 : 851–9.
  7. Weiss B, Bollag G, Shannon K. Hyperactive Ras as a therapeutic target in neurofibromatosis type 1. Am J Med Genet 1999; 89 : 14–22.
  8. Nordlund M, Gu X, Shipley MT, Ratner N. Neurofibromin is enriched in the endoplasmic reticulum of CNS neurons. J Neurosci 1993; 13 : 1588–600.
  9. Upadhyaya M, Shaw DJ, Harper PS. Molecular basis of neurofibromatosis type 1 (NF1) : mutation analysis and polymorphisms in the NF1 gene. Hum Mutat 1994; 4 : 83–101.
  10. Friedman JM Epidemiology of neurofibromatosis type 1. Am J Med Genet 1999; 89 : 1–6.
  11. Huson SM, Compston DA, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989; 26 : 704–11.
  12. Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997; 278 : 51–7.
  13. Rasmussen SA, Friedman JM. NF1 gene and neurofibromatosis 1. Am J Epidemiol 2000; 151 : 33–40.
  14. Brannan CI, Perkins AS, Vogel KS, et al. Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev 1994; 8 : 1019–29.
  15. Jacks T, Shih TS, Schmitt EM, et al. Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat Genet 1994; 7 : 353–61.
  16. Shen MH, Harper PS, Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 1996; 33 : 2–17.
  17. Upadhyaya M, Shaw DJ, Harper PS. Molecular basis of neurofibromatosis type 1 (NF1) : mutation analysis and polymorphisms in the NF1 gene. Hum Mutat 1994; 4 : 83–101.
  18. Gasparini P, Grifa A, Origone P, et al. Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR : implications for the diagnosis and screening of genetic diseases. Mol Cell Probes 1993; 7 : 415–8.
  19. Lazaro C, Gaona A, Ainsworth P, et al. Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet 1996; 98 : 696–9.
  20. Boulandet EG, Pantel J, Cazeneuve C, et al. NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1. Hum Mutat 2000; 16 : 274–5.
  21. Purandare SM, Huntsman BH, Li Y, et al. Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids. Genomics 1995; 30 : 476–85.
  22. Ritchie RJ, Mattei MG, Lalande M. A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. Hum Mol Genet 1998; 7 : 1253–60.
  23. Lazaro C, Ravella A, Gaona A, et al. Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father [see comments]. N Engl J Med 1994; 331 : 1403–7.
  24. Upadhyaya M, Ruggieri M, Maynard J, et al. 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. Hum Genet 1998; 102 : 591–7.
  25. Correa CL, Brems H, Lazaro C, et al. Unequal meiotic crossover : a frequent cause of NF1 microdeletions. Am J Hum Genet 2000; 66 : 1969–74.
  26. Messiaen LM, Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95 % of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 2000; 15 : 541–55.
  27. Sorensen SA, Mulvihill JJ, Nielsen A. Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms. N Engl J Med 1986; 314 : 1010–5.
  28. Zoller M, Rembeck B, Akesson HO, Angervall L. Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Goteborg, Sweden. Acta Dermatol Venereol 1995; 75 : 136–40.
  29. Carey JC, Viskochil DH. Neurofibromatosis type 1 : A model condition for the study of the molecular basis of variable expressivity in human disorders. Am J Med Genet 1999; 89 : 7–13.
  30. Friedman JM, Birch PH. Type 1 neurofibromatosis : a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet 1997; 70 : 138–43.
  31. Korf BR. Plexiform neurofibromas. Am J Med Genet 1999; 89 : 31–7.
  32. Waggoner DJ, Towbin J, Gottesman G, Gutmann DH. Clinic-based study of plexiform neurofibromas in neurofibromatosis 1. Am J Med Genet 2000; 92 : 132–5.
  33. King AA, Debaun MR, Riccardi VM, Gutmann DH. Malignant peripheral nerve sheath tumors in neurofibromatosis 1. Am J Med Genet 2000; 93 : 388–92.
  34. Woodruff JM. Pathology of tumors of the peripheral nerve sheath in type 1 neurofibromatosis. Am J Med Genet 1999; 89 : 23–30.
  35. Listernick R, Charrow J, Greenwald M, Mets M. Natural history of optic pathway tumors in children with neurofibromatosis type 1 : a longitudinal study. J Pediatr 1994; 125 : 63–6.
  36. Listernick R, Louis DN, Packer RJ, Gutmann DH. Optic pathway gliomas in children with neurofibromatosis 1 : consensus statement from the NF1 optic pathway glioma task force. Ann Neurol 1997; 41 : 143–9.
  37. Listernick R, Charrow J, Gutmann DH. Intracranial gliomas in neurofibromatosis type 1. Am J Med Genet 1999; 89 : 38–44.
  38. Listernick R, Charrow J, Tomita T, Goldman S. Carboplatin therapy for optic pathway tumors in children with neurofibromatosis type-1. J Neurooncol 1999; 45 : 185–90.
  39. Creange A, Zeller J, Rostaing-Rigattieri S, et al. Neurological complications of neurofibromatosis type 1 in adulthood. Brain 1999; 122 : 473–81.
  40. Easton DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1) : evidence for modifying genes. Am J Hum Genet 1993; 53 : 305–13.
  41. Sawada S, Florell S, Purandare SM, et al. Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nat Genet 1996; 14 : 110–2.
  42. Shannon KM, O’Connell P, Martin GA, et al. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 1994; 330 : 597–601.
  43. Xu W, Mulligan LM, Ponder MA, et al. Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis. Genes Chromosomes Cancer 1992; 4 : 337–42.
  44. Kluwe L, Friedrich R, Mautner VF. Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma. Genes Chromosomes Cancer 1999; 24 : 283–5.
  45. Serra E, Rosenbaum T, Winner U, et al. Schwann cells harbor the somatic NF1 mutation in neurofibromas : evidence of two different Schwann cell subpopulations. Hum Mol Genet 2000; 9 : 3055–64.
  46. Sherman LS, Atit R, Rosenbaum T, et al. Single cell Ras-GTP analysis reveals altered Ras activity in a subpopulation of neurofibroma Schwann cells but not fibroblasts. J Biol Chem 2000; 275 : 30740–5.
  47. Rasmussen SA, Colman SD, Ho VT, et al. Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. J Med Genet 1998; 35 : 468–71.
  48. Buchberg AM, Cleveland LS, Jenkins NA, Copeland NG. Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway. Nature 1990; 347 : 291–4.
  49. Xu GF, O’Connell P, Viskochil D, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990; 62 : 599–608.
  50. Wittinghofer A. Signal transduction via Ras. Biol Chem 1998; 379 : 933–7.
  51. Bernards A Neurofibromatosis type 1 and Ras-mediated signaling : filling in the GAPs. Biochim Biophys Acta 1995; 1242 : 43–59.
  52. Scheffzek K, Ahmadian MR, Kabsch W, et al. The Ras-RasGAP complex : structural basis for GTPase activation and its loss in oncogenic Ras mutants. Science 1997; 277 : 333–8.
  53. Scheffzek K, Ahmadian MR, Wiesmuller L, et al. Structural analysis of the GAP-related domain from neurofibromin and its implications. EMBO J 1998; 17 : 4313–27.
  54. 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 : 713–5.
  55. 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 : 265–73.
  56. Legius E, Marchuk DA, Collins FS, Glover TW. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet 1993; 3 : 122–6.
  57. Side L, Taylor B, Cayouette M, et al. Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. N Engl J Med 1997; 336 : 1713–20.
  58. 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 : 7240–5.
  59. Klose A, Ahmadian MR, Schuelke M, et al. Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. Hum Mol Genet 1998; 7 : 1261–8
  60. Silva AJ, Frankland PW, Marowitz Z, et al. A mouse model for the learning and memory deficits associated with neurofibromatosis type I. Nat Genet 1997; 15 : 281–4.
  61. Costa RM, Yang T, Huynh DP, et al. Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nat Genet 2001; 27 : 399–405.

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.