NF1

Summary

Gene Symbol: NF1
Description: neurofibromin 1
Alias: NFNS, VRNF, WSS, neurofibromin, neurofibromatosis 1, neurofibromatosis-related protein NF-1, truncated neurofibromin 1
Species: human
Products:     NF1

Top Publications

  1. Kossler N, Stricker S, Rödelsperger C, Robinson P, Kim J, Dietrich C, et al. Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet. 2011;20:2697-709 pubmed publisher
    ..type 1 (NF1) is a multi-system disease caused by mutations in the NF1 gene encoding a Ras-GAP protein, neurofibromin, which negatively regulates Ras signaling...
  2. Li Y, O Connell P, Breidenbach H, Cawthon R, Stevens J, Xu G, et al. Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics. 1995;25:9-18 pubmed
    b>Neurofibromatosis 1 maps to chromosome band 17q11.2, and the NF1 locus has been partially characterized. Even though the full-length NF1 cDNA has been sequenced, the complete genomic structure of the NF1 gene has not been elucidated...
  3. Maynard J, Krawczak M, Upadhyaya M. Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. Hum Genet. 1997;99:674-6 pubmed
    Nine novel mutations have been characterized as the result of screening exon 16 of the human NF1 gene in 465 unrelated neurofibromatosis type 1 patients...
  4. Baralle D, Baralle M. Splicing in action: assessing disease causing sequence changes. J Med Genet. 2005;42:737-48 pubmed
    ..The fact that human pathology can provide pointers to new modulatory elements of splicing should be exploited. ..
  5. Trovó Marqui A, Tajara E. Neurofibromin: a general outlook. Clin Genet. 2006;70:1-13 pubmed
    b>Neurofibromin is a cytoplasmic protein that is predominantly expressed in neurons, Schwann cells, oligodendrocytes, astrocytes and leukocytes. It is encoded by the gene NF1, located on chromosome 17, at q11...
  6. Ylä Outinen H, Koivunen J, Nissinen M, Björkstrand A, Paloniemi M, Korkiamäki T, et al. NF1 tumor suppressor mRNA is targeted to the cell-cell contact zone in Ca(2+)-induced keratinocyte differentiation. Lab Invest. 2002;82:353-61 pubmed
    We have previously shown that NF1 (type 1 neurofibromatosis) p21ras GTPase-activating tumor suppressor protein undergoes major relocalization during the formation of cell-cell junctions in differentiating keratinocytes in vitro...
  7. Leondaritis G, Petrikkos L, Mangoura D. Regulation of the Ras-GTPase activating protein neurofibromin by C-tail phosphorylation: implications for protein kinase C/Ras/extracellular signal-regulated kinase 1/2 pathway signaling and neuronal differentiation. J Neurochem. 2009;109:573-83 pubmed publisher
    ..crucial protein that may play a central role in this signaling pathway is the Ras GTPase-activating protein, neurofibromin, a PKC substrate that may exert a positive role in neuronal differentiation...
  8. Upadhyaya M, Osborn M, Maynard J, Kim M, Tamanoi F, Cooper D. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Hum Genet. 1997;99:88-92 pubmed
    ..The NF1 gene product, neurofibromin, displays partial homology to GTPase-activating protein (GAP)...
  9. Thomas L, Kluwe L, Chuzhanova N, Mautner V, Upadhyaya M. Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden. Neurogenetics. 2010;11:391-400 pubmed publisher
    Neurofibromatosis type 1, (NF1) is a complex, autosomal dominant disorder characterized by benign and malignant tumors which result from NF1 gene mutations...

More Information

Publications64

  1. Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel M, et al. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat. 2010;31:E1506-18 pubmed publisher
    In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes...
  2. Nemethova M, Bolcekova A, Ilencikova D, Durovcíková D, Hlinkova K, Hlavata A, et al. Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. Ann Hum Genet. 2013;77:364-79 pubmed publisher
    We performed a complex analysis of the neurofibromatosis type 1 (NF1) gene in Slovakia based on direct cDNA sequencing supplemented by multiple ligation dependent probe amplification (MLPA) analysis...
  3. Parkin B, Ouillette P, Wang Y, Liu Y, Wright W, Roulston D, et al. NF1 inactivation in adult acute myelogenous leukemia. Clin Cancer Res. 2010;16:4135-47 pubmed publisher
    ..9-Mb length that harbors 11 known genes; this region includes Neurofibromin 1 (NF1)...
  4. De Luca A, Schirinzi A, Buccino A, Bottillo I, Sinibaldi L, Torrente I, et al. Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. Hum Mutat. 2004;23:629 pubmed
    Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans, affecting 1 in 3500 individuals...
  5. Munchhof A, Li F, White H, Mead L, Krier T, Fenoglio A, et al. Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cells. Hum Mol Genet. 2006;15:1858-69 pubmed
    ..Somatic inactivation of the Nf1 tumor suppressor gene, which encodes neurofibromin, is necessary but not sufficient to initiate neurofibroma development...
  6. Park H, Lee S, Sohn Y, Jin H, Han J, Kim Y, et al. NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. Int J Oncol. 2013;42:657-66 pubmed publisher
    Since the bi-allelic inactivation of both neurofibromin 1 (NF1) gene alleles (NF1(-/-)) in Schwann cells (SCs) is common in both benign plexiform neurofibromas (PNs) and malignant peripheral nerve sheath tumors (MPNSTs) in patients with ..
  7. Upadhyaya M, Kluwe L, Spurlock G, Monem B, Majounie E, Mantripragada K, et al. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Hum Mutat. 2008;29:74-82 pubmed
    About 10% of neurofibromatosis type 1 (NF1) patients develop malignant peripheral nerve sheath tumors (MPNSTs) and represent considerable patient morbidity and mortality...
  8. Upadhyaya M, Spurlock G, Monem B, Thomas N, Friedrich R, Kluwe L, et al. Germline and somatic NF1 gene mutations in plexiform neurofibromas. Hum Mutat. 2008;29:E103-11 pubmed publisher
    Neurofibromatosis type 1 (NF1), a common autosomal dominant neurogenetic disorder affecting 1 in 4000 individuals worldwide, results from functional inactivation of the 17q11.2-located NF1 gene...
  9. Stowe I, Mercado E, Stowe T, Bell E, Oses Prieto J, Hernandez H, et al. A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1. Genes Dev. 2012;26:1421-6 pubmed publisher
    ..Here we show that neurofibromin, the NF1 gene product, is a Spred1-interacting protein that is necessary for Spred1's inhibitory function...
  10. Hsueh Y, Roberts A, Volta M, Sheng M, Roberts R. Bipartite interaction between neurofibromatosis type I protein (neurofibromin) and syndecan transmembrane heparan sulfate proteoglycans. J Neurosci. 2001;21:3764-70 pubmed
    The neurofibromatosis type 1 (NF1) gene encodes a large tumor suppressor protein (neurofibromin). Although it is known to possess Ras GTPase-activating protein (GAP) activity, the cellular role of neurofibromin remains unclear...
  11. Bottillo I, Ahlquist T, Brekke H, Danielsen S, van den Berg E, Mertens F, et al. Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. J Pathol. 2009;217:693-701 pubmed publisher
    ..tumours (MPNSTs) are a malignancy occurring with increased frequency in patients with neurofibromatosis type 1 (NF1)...
  12. Cawthon R, Weiss R, Xu G, Viskochil D, Culver M, Stevens J, et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell. 1990;62:193-201 pubmed
    ..followed by electrophoresis of denatured product on native gels, identified six variant conformers specific to NF1 patients, indicating base pair changes in the gene...
  13. Ars E, Serra E, Garcia J, Kruyer H, Gaona A, Lazaro C, et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet. 2000;9:237-47 pubmed
    Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders in humans and is caused by mutations in the NF1 gene...
  14. Sharif S, Upadhyaya M, Ferner R, Majounie E, Shenton A, Baser M, et al. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. J Med Genet. 2011;48:256-60 pubmed publisher
    Neurofibromatosis type 1 (NF1) affects 1 in 2500 people, and 15% of these may develop an optic pathway glioma (OPG). OPGs behave differently in NF1, and, given their frequency, surveillance is important...
  15. Malhotra R, Ratner N. Localization of neurofibromin to keratinocytes and melanocytes in developing rat and human skin. J Invest Dermatol. 1994;102:812-8 pubmed
    ..common in the inherited disease type 1 neurofibromatosis (NF1), predicting a role for the NF1 gene product, neurofibromin, in the skin...
  16. Pros E, Gomez C, Martín T, Fábregas P, Serra E, Lazaro C. Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. Hum Mutat. 2008;29:E173-93 pubmed publisher
    Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder caused by mutations in the NF1 gene...
  17. Kehrer Sawatzki H, Cooper D. Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?. J Med Genet. 2008;45:622-31 pubmed publisher
    ..Since the new mutation rate is very high in neurofibromatosis type 1 (NF1), mosaicism might reasonably be expected to be frequent among sporadic cases but this remains to be formally ..
  18. Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, et al. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet. 2009;18:2768-78 pubmed publisher
    Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder which displays considerable inter- and intra-familial variability in phenotypic expression...
  19. Zatkova A, Messiaen L, Vandenbroucke I, Wieser R, Fonatsch C, Krainer A, et al. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. Hum Mutat. 2004;24:491-501 pubmed
    ..and six nonsense mutations that lead to different extents of exon-lacking transcripts in neurofibromatosis type 1 (NF1) patients. We confirmed mutation-associated exon skipping in a heterologous hybrid minigene context...
  20. Yang F, Chen S, Robling A, Yu X, Nebesio T, Yan J, et al. Hyperactivation of p21ras and PI3K cooperate to alter murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions. J Clin Invest. 2006;116:2880-91 pubmed
    Individuals with neurofibromatosis type 1 (NF1) have a high incidence of osteoporosis and osteopenia. However, understanding of the cellular and molecular basis of these sequelae is incomplete...
  21. Banerjee S, Byrd J, Gianino S, Harpstrite S, Rodriguez F, Tuskan R, et al. The neurofibromatosis type 1 tumor suppressor controls cell growth by regulating signal transducer and activator of transcription-3 activity in vitro and in vivo. Cancer Res. 2010;70:1356-66 pubmed publisher
    ..The NF1 gene product neurofibromin negatively regulates Ras and mammalian target of rapamycin (mTOR) signaling, prompting clinical trials to ..
  22. Lasater E, Li F, Bessler W, Estes M, Vemula S, Hingtgen C, et al. Genetic and cellular evidence of vascular inflammation in neurofibromin-deficient mice and humans. J Clin Invest. 2010;120:859-70 pubmed publisher
    ..type 1 (NF1) results from mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin. NF1 patients display diverse clinical manifestations, including vascular disease, which results from ..
  23. Harder A, Titze S, Herbst L, Harder T, Guse K, Tinschert S, et al. Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1. Twin Res Hum Genet. 2010;13:582-94 pubmed publisher
    ..Given that haploinsufficiency of the NF1 gene product neurofibromin is responsible for some of the clinical manifestations, variations in expression of the wildtype NF1 allele ..
  24. Horan M, Osborn M, Cooper D, Upadhyaya M. Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene. Am J Med Genet A. 2004;131:227-31 pubmed
    The regulatory regions of the neurofibromatosis type 1 (NF1) gene have scarcely been screened either for mutations of potential pathological importance or for functional polymorphisms...
  25. Xu G, O Connell P, Viskochil D, Cawthon R, Robertson M, Culver M, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell. 1990;62:599-608 pubmed
    cDNA walking and sequencing have extended the open reading frame for the neurofibromatosis type 1 gene (NF1). The new sequence now predicts 2485 amino acids of the NF1 peptide...
  26. Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, et al. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet. 2003;40:e82 pubmed
  27. Danglot G, Regnier V, Fauvet D, Vassal G, Kujas M, Bernheim A. Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene. Hum Mol Genet. 1995;4:915-20 pubmed
    The neurofibromatosis 1 gene seems to play essential roles at several different stages of life...
  28. Hajra A, Martin Gallardo A, Tarle S, Freedman M, Wilson Gunn S, Bernards A, et al. DNA sequences in the promoter region of the NF1 gene are highly conserved between human and mouse. Genomics. 1994;21:649-52 pubmed
    The gene for type 1 neurofibromatosis (NF1) is most highly expressed in brain and spinal cord, although low levels of mRNA can be found in nearly all tissues...
  29. Andersen L, Ballester R, Marchuk D, Chang E, Gutmann D, Saulino A, et al. A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. Mol Cell Biol. 1993;13:487-95 pubmed
    ..protein (GAP), yeast Ira1p and Ira2p (inhibitory regulators of the RAS-cyclic AMP pathway), and neurofibromin, the protein encoded by the NF1 gene...
  30. Messiaen L, Callens T, Roux K, Mortier G, De Paepe A, Abramowicz M, et al. Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. Genet Med. 1999;1:248-53 pubmed
    To analyze the spectrum and frequency of NF1 mutations in exon 10b. Mutation and sequence analysis was performed at the DNA and cDNA level. We identified nine exon 10b mutations in 232 unrelated patients...
  31. Li Y, Bollag G, Clark R, Stevens J, Conroy L, Fults D, et al. Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell. 1992;69:275-81 pubmed
    The neurofibromatosis 1 (NF1) gene product, neurofibromin, contains a GTPase-activating protein (GAP)-related domain, or NF1 GRD, that is able to down-regulate p21ras by stimulating its intrinsic GTPase. Since p21ras...
  32. Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, et al. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet. 2000;66:790-818 pubmed
    More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene...
  33. Klose A, Ahmadian M, Schuelke M, Scheffzek K, Hoffmeyer S, Gewies A, et al. Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. Hum Mol Genet. 1998;7:1261-8 pubmed
    ..loss of one allele at the DNA, mRNA or protein level and thus in the loss of any function of the gene product neurofibromin. The idea of the simultaneous loss of several different neurofibromin functions has been postulated to explain ..
  34. Suzuki Y, Suzuki H, Kayama T, Yoshimoto T, Shibahara S. Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain. Biochem Biophys Res Commun. 1991;181:955-61 pubmed
    Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder. A part of the gene for NF1 was cloned and its deduced protein has a domain functionally related to mammalian ras GTP-ase-activating protein (GAP)...
  35. Ko J, Sohn Y, Jeong S, Kim H, Messiaen L. Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. Pediatr Neurol. 2013;48:447-53 pubmed publisher
    Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans. NF1 is caused by mutations of the NF1 gene...
  36. Wallace M, Andersen L, Saulino A, Gregory P, Glover T, Collins F. A de novo Alu insertion results in neurofibromatosis type 1. Nature. 1991;353:864-6 pubmed
    Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with a high mutation rate and variable expression, characterized by neurofibromas, café-au-lait spots, Lisch nodules of the iris, and less frequent features ..
  37. Ballester R, Marchuk D, Boguski M, Saulino A, Letcher R, Wigler M, et al. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell. 1990;63:851-9 pubmed
    The von Recklinghausen neurofibromatosis locus, NF1, encodes a protein with homology restricted to the catalytic region of the RAS GTPase-activating protein, GAP, and with extensive homology to the IRA1 and IRA2 gene products of the ..
  38. Wallace M, Marchuk D, Andersen L, Letcher R, Odeh H, Saulino A, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science. 1990;249:181-6 pubmed
    Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the neural crest...
  39. Verhaak R, Hoadley K, Purdom E, Wang V, Qi Y, Wilkerson M, et al. Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell. 2010;17:98-110 pubmed publisher
    ..Aberrations and gene expression of EGFR, NF1, and PDGFRA/IDH1 each define the Classical, Mesenchymal, and Proneural subtypes, respectively...
  40. Upadhyaya M, Huson S, Davies M, Thomas N, Chuzhanova N, Giovannini S, et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet. 2007;80:140-51 pubmed
    ..These two methionine residues are located in a highly conserved region of neurofibromin and are expected, therefore, to have a functional role in the protein...
  41. Yunoue S, Tokuo H, Fukunaga K, Feng L, Ozawa T, Nishi T, et al. Neurofibromatosis type I tumor suppressor neurofibromin regulates neuronal differentiation via its GTPase-activating protein function toward Ras. J Biol Chem. 2003;278:26958-69 pubmed
    b>Neurofibromin, the neurofibromatosis type 1 (NF1) gene product, contains a central domain homologous to a family of proteins known as Ras-GTPase-activating proteins (Ras-GAPs), which function as negative regulators of Ras...
  42. Colapietro P, Gervasini C, Natacci F, Rossi L, Riva P, Larizza L. NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient. Hum Genet. 2003;113:551-4 pubmed
    The underestimates of NF1 gene mutations in neurofibromatosis 1 (NF1) have been attributed to the large size of the NF1 gene, the considerable frequency of gross deletions and the common occurrence of splicing defects that are only ..
  43. Boyanapalli M, Lahoud O, Messiaen L, Kim B, Anderle de Sylor M, Duckett S, et al. Neurofibromin binds to caveolin-1 and regulates ras, FAK, and Akt. Biochem Biophys Res Commun. 2006;340:1200-8 pubmed
    b>Neurofibromin (Nf1) is an approximately 280 kDa protein having tumor suppressor function, presumably by virtue of its GTPase activating domain, but little is known regarding molecular aspects of its effector pathways...
  44. Ozawa T, Araki N, Yunoue S, Tokuo H, Feng L, Patrakitkomjorn S, et al. The neurofibromatosis type 1 gene product neurofibromin enhances cell motility by regulating actin filament dynamics via the Rho-ROCK-LIMK2-cofilin pathway. J Biol Chem. 2005;280:39524-33 pubmed
    b>Neurofibromin is a neurofibromatosis type 1 (NF1) tumor suppressor gene product with a domain that acts as a GTPase-activating protein and functions, in part, as a negative regulator of Ras...
  45. Chong J, Moran M, Teichmann M, Kaczmarek J, Roeder R, Clapham D. TATA-binding protein (TBP)-like factor (TLF) is a functional regulator of transcription: reciprocal regulation of the neurofibromatosis type 1 and c-fos genes by TLF/TRF2 and TBP. Mol Cell Biol. 2005;25:2632-43 pubmed
    ..called TBP-related factor 2 [TRF2]) activates a number of different genes, including the neurofibromatosis type 1 (NF1) gene. The overexpression of TLF increases the amount of NF1 mRNA in cells...
  46. Park K, Choi H, Park K, Kim K, Eun H. A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient. J Hum Genet. 2000;45:84-5 pubmed
    ..Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in all ethnic groups.
  47. Kluwe L, Friedrich R, Korf B, Fahsold R, Mautner V. NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. Hum Mutat. 2002;19:309 pubmed
    b>Neurofibromatosis 1 (NF1) is an autosomal dominant disorder caused by genetic alterations of the NF1 gene on 17q11.2. About 30% of NF1 patients develop plexiform neurofibromas (PNFs), which often cause severe clinical deficits...
  48. Vandenbroucke I, Vandesompele J, De Paepe A, Messiaen L. Quantification of NF1 transcripts reveals novel highly expressed splice variants. FEBS Lett. 2002;522:71-6 pubmed
    ..NF1-DeltaE43 lacks a nuclear targeting sequence and might be functionally different from full-length NF1. These novel NF1 splice variants might expand our understanding of the role of neurofibromin.
  49. De Luca A, Buccino A, Gianni D, Mangino M, Giustini S, Richetta A, et al. NF1 gene analysis based on DHPLC. Hum Mutat. 2003;21:171-2 pubmed
    The high mutation rate at the NF1 locus results in a wide range of molecular abnormalities. The majority of these mutations are private and rare, generating elevated allelic diversity with a restricted number of recurrent mutations...
  50. Turbyville T, Gürsel D, Tuskan R, Walrath J, Lipschultz C, Lockett S, et al. Schweinfurthin A selectively inhibits proliferation and Rho signaling in glioma and neurofibromatosis type 1 tumor cells in a NF1-GRD-dependent manner. Mol Cancer Ther. 2010;9:1234-43 pubmed publisher
    Neurofibromatosis type 1 (NF1) is the most common genetic disease affecting the nervous system. Patients typically develop many tumors over their lifetime, leading to increased morbidity and mortality...
  51. Gutmann D, Cole J, Stone W, Ponder B, Collins F. Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I. Genes Chromosomes Cancer. 1994;10:55-8 pubmed
    The neurofibromatosis type I gene encodes a protein, neurofibromin, which may function as a tumor suppressor gene product...
  52. Griffiths S, Thompson P, Frayling I, Upadhyaya M. Molecular diagnosis of neurofibromatosis type 1: 2 years experience. Fam Cancer. 2007;6:21-34 pubmed
    Our experience of providing an NF1 gene diagnostic mutation detection service as part of the U.K. Genetic Testing Network (UKGTN) is presented...
  53. Martin G, Viskochil D, Bollag G, McCabe P, Crosier W, Haubruck H, et al. The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell. 1990;63:843-9 pubmed
    The neurofibromatosis type 1 (NF1) protein contains a region of significant sequence similarity to ras p21 GTPase-activating protein (GAP) and the yeast IRA1 gene product...
  54. Marchuk D, Saulino A, Tavakkol R, Swaroop M, Wallace M, Andersen L, et al. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics. 1991;11:931-40 pubmed
    Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the embryonic neural crest...
  55. Burnichon N, Buffet A, Parfait B, Letouze E, Laurendeau I, Loriot C, et al. Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. Hum Mol Genet. 2012;21:5397-405 pubmed publisher
    Germline mutations in the RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, MAX, TMEM127, NF1 or VHL genes are identified in about 30% of patients with pheochromocytoma or paraganglioma and somatic mutations in RET, VHL or MAX genes are reported in ..