Accès gratuit
Med Sci (Paris)
Volume 17, Numéro 11, Novembre 2001
Page(s) 1158 - 1167
Section Articles de Synthèse
Publié en ligne 15 novembre 2001
  1. Huson SM. The neurofibromatoses : a pathogenetic and clinical overview, 1st ed. London : Chapmann and Hall, 1994. [Google Scholar]
  2. Viskochil D. Neurofibromatosis 1. Introduction. Am J Med Genet 1999; 89 : v-viii. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  5. Gutmann DH, Wood DL, Collins FS. Identification of the neurofibromatosis type 1 gene product. Proc Natl Acad Sci USA 1991; 88 : 9658–62. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  10. Friedman JM Epidemiology of neurofibromatosis type 1. Am J Med Genet 1999; 89 : 1–6. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  13. Rasmussen SA, Friedman JM. NF1 gene and neurofibromatosis 1. Am J Epidemiol 2000; 151 : 33–40. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  16. Shen MH, Harper PS, Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 1996; 33 : 2–17. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  31. Korf BR. Plexiform neurofibromas. Am J Med Genet 1999; 89 : 31–7. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  34. Woodruff JM. Pathology of tumors of the peripheral nerve sheath in type 1 neurofibromatosis. Am J Med Genet 1999; 89 : 23–30. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  37. Listernick R, Charrow J, Gutmann DH. Intracranial gliomas in neurofibromatosis type 1. Am J Med Genet 1999; 89 : 38–44. [Google Scholar]
  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. [Google Scholar]
  39. Creange A, Zeller J, Rostaing-Rigattieri S, et al. Neurological complications of neurofibromatosis type 1 in adulthood. Brain 1999; 122 : 473–81. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  50. Wittinghofer A. Signal transduction via Ras. Biol Chem 1998; 379 : 933–7. [Google Scholar]
  51. Bernards A Neurofibromatosis type 1 and Ras-mediated signaling : filling in the GAPs. Biochim Biophys Acta 1995; 1242 : 43–59. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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 [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]

Les statistiques affichées correspondent au cumul d'une part des vues des résumés de l'article et d'autre part des vues et téléchargements de l'article plein-texte (PDF, Full-HTML, ePub... selon les formats disponibles) sur la platefome Vision4Press.

Les statistiques sont disponibles avec un délai de 48 à 96 heures et sont mises à jour quotidiennement en semaine.

Le chargement des statistiques peut être long.