Nf1

Summary

Gene Symbol: Nf1
Description: neurofibromin 1
Alias: AW494271, Dsk9, E030030H24Rik, Mhdadsk9, Nf-1, neurofibromin, neurofibromatosis 1, neurofibromatosis-related protein NF-1
Species: mouse
Products:     Nf1

Top Publications

  1. Yang F, Ingram D, Chen S, Zhu Y, Yuan J, Li X, et al. Nf1-dependent tumors require a microenvironment containing Nf1+/-- and c-kit-dependent bone marrow. Cell. 2008;135:437-48 pubmed publisher
    ..Germline mutations in the NF1 tumor suppressor gene cause neurofibromatosis type 1 (NF1), a common genetic disorder characterized by complex ..
  2. Yan J, Chen S, Zhang Y, Li X, Li Y, Wu X, et al. Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1. Hum Mol Genet. 2008;17:936-48 pubmed
    Neurofibromatosis type I (NF1) is a congenital disorder resulting from loss-of-function of the tumor suppressor gene, NF1, a GTPase-activating protein for p21ras...
  3. Wang W, Nyman J, Ono K, Stevenson D, Yang X, Elefteriou F. Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I. Hum Mol Genet. 2011;20:3910-24 pubmed publisher
    Mutations in NF1 cause neurofibromatosis type I (NF1), a disorder characterized, among other clinical manifestations, by generalized and focal bony lesions...
  4. Bajenaru M, Hernandez M, Perry A, Zhu Y, Parada L, Garbow J, et al. Optic nerve glioma in mice requires astrocyte Nf1 gene inactivation and Nf1 brain heterozygosity. Cancer Res. 2003;63:8573-7 pubmed
    Whereas biallelic neurofibromatosis 1 (NF1) inactivation is observed in NF1-associated gliomas, astrocyte-restricted Nf1 conditional knockout mice do not develop gliomas...
  5. Ono K, Karolak M, Ndong J, Wang W, Yang X, Elefteriou F. The ras-GTPase activity of neurofibromin restrains ERK-dependent FGFR signaling during endochondral bone formation. Hum Mol Genet. 2013;22:3048-62 pubmed publisher
    ..We provide here evidence that neurofibromin, via its Ras guanosine triphosphatase -activating activity, controls ERK1/2-dependent fibroblast growth factor ..
  6. Schindeler A, Morse A, Harry L, Godfrey C, Mikulec K, McDonald M, et al. Models of tibial fracture healing in normal and Nf1-deficient mice. J Orthop Res. 2008;26:1053-60 pubmed publisher
    ..These tibial fracture models were applied to both wild-type and Nf1-deficient (Nf1+/-) mice...
  7. Zhu Y, Romero M, Ghosh P, Ye Z, Charnay P, Rushing E, et al. Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain. Genes Dev. 2001;15:859-76 pubmed
    Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder that affects growth properties of neural-crest-derived cell populations. In addition, approximately one-half of NF1 patients exhibit learning disabilities...
  8. Liu C, Sage J, Miller M, Verhaak R, Hippenmeyer S, Vogel H, et al. Mosaic analysis with double markers reveals tumor cell of origin in glioma. Cell. 2011;146:209-21 pubmed publisher
    ..Here, we use mosaic analysis with double markers (MADM) in mice to model gliomagenesis by initiating concurrent p53/Nf1 mutations sporadically in neural stem cells (NSCs)...
  9. Wang Y, Kim E, Wang X, Novitch B, Yoshikawa K, Chang L, et al. ERK inhibition rescues defects in fate specification of Nf1-deficient neural progenitors and brain abnormalities. Cell. 2012;150:816-30 pubmed publisher
    ..1 (NF1), an NCFC syndrome, is caused by loss-of-function heterozygous mutations in the NF1 gene, which encodes neurofibromin, a RAS GTPase-activating protein...
  10. Atit R, Crowe M, Greenhalgh D, Wenstrup R, Ratner N. The Nf1 tumor suppressor regulates mouse skin wound healing, fibroblast proliferation, and collagen deposited by fibroblasts. J Invest Dermatol. 1999;112:835-42 pubmed
    ..Trauma has been proposed to trigger neurofibroma formation. To test if loss of the neurofibromatosis type 1 gene (Nf1) compromises fibroblast function in vivo following trauma, skin wounding was performed in Nf1 knockout mice...

Detail Information

Publications67

  1. Yang F, Ingram D, Chen S, Zhu Y, Yuan J, Li X, et al. Nf1-dependent tumors require a microenvironment containing Nf1+/-- and c-kit-dependent bone marrow. Cell. 2008;135:437-48 pubmed publisher
    ..Germline mutations in the NF1 tumor suppressor gene cause neurofibromatosis type 1 (NF1), a common genetic disorder characterized by complex ..
  2. Yan J, Chen S, Zhang Y, Li X, Li Y, Wu X, et al. Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1. Hum Mol Genet. 2008;17:936-48 pubmed
    Neurofibromatosis type I (NF1) is a congenital disorder resulting from loss-of-function of the tumor suppressor gene, NF1, a GTPase-activating protein for p21ras...
  3. Wang W, Nyman J, Ono K, Stevenson D, Yang X, Elefteriou F. Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I. Hum Mol Genet. 2011;20:3910-24 pubmed publisher
    Mutations in NF1 cause neurofibromatosis type I (NF1), a disorder characterized, among other clinical manifestations, by generalized and focal bony lesions...
  4. Bajenaru M, Hernandez M, Perry A, Zhu Y, Parada L, Garbow J, et al. Optic nerve glioma in mice requires astrocyte Nf1 gene inactivation and Nf1 brain heterozygosity. Cancer Res. 2003;63:8573-7 pubmed
    Whereas biallelic neurofibromatosis 1 (NF1) inactivation is observed in NF1-associated gliomas, astrocyte-restricted Nf1 conditional knockout mice do not develop gliomas...
  5. Ono K, Karolak M, Ndong J, Wang W, Yang X, Elefteriou F. The ras-GTPase activity of neurofibromin restrains ERK-dependent FGFR signaling during endochondral bone formation. Hum Mol Genet. 2013;22:3048-62 pubmed publisher
    ..We provide here evidence that neurofibromin, via its Ras guanosine triphosphatase -activating activity, controls ERK1/2-dependent fibroblast growth factor ..
  6. Schindeler A, Morse A, Harry L, Godfrey C, Mikulec K, McDonald M, et al. Models of tibial fracture healing in normal and Nf1-deficient mice. J Orthop Res. 2008;26:1053-60 pubmed publisher
    ..These tibial fracture models were applied to both wild-type and Nf1-deficient (Nf1+/-) mice...
  7. Zhu Y, Romero M, Ghosh P, Ye Z, Charnay P, Rushing E, et al. Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain. Genes Dev. 2001;15:859-76 pubmed
    Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder that affects growth properties of neural-crest-derived cell populations. In addition, approximately one-half of NF1 patients exhibit learning disabilities...
  8. Liu C, Sage J, Miller M, Verhaak R, Hippenmeyer S, Vogel H, et al. Mosaic analysis with double markers reveals tumor cell of origin in glioma. Cell. 2011;146:209-21 pubmed publisher
    ..Here, we use mosaic analysis with double markers (MADM) in mice to model gliomagenesis by initiating concurrent p53/Nf1 mutations sporadically in neural stem cells (NSCs)...
  9. Wang Y, Kim E, Wang X, Novitch B, Yoshikawa K, Chang L, et al. ERK inhibition rescues defects in fate specification of Nf1-deficient neural progenitors and brain abnormalities. Cell. 2012;150:816-30 pubmed publisher
    ..1 (NF1), an NCFC syndrome, is caused by loss-of-function heterozygous mutations in the NF1 gene, which encodes neurofibromin, a RAS GTPase-activating protein...
  10. Atit R, Crowe M, Greenhalgh D, Wenstrup R, Ratner N. The Nf1 tumor suppressor regulates mouse skin wound healing, fibroblast proliferation, and collagen deposited by fibroblasts. J Invest Dermatol. 1999;112:835-42 pubmed
    ..Trauma has been proposed to trigger neurofibroma formation. To test if loss of the neurofibromatosis type 1 gene (Nf1) compromises fibroblast function in vivo following trauma, skin wounding was performed in Nf1 knockout mice...
  11. 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 ..
  12. Hingtgen C, Roy S, Clapp D. Stimulus-evoked release of neuropeptides is enhanced in sensory neurons from mice with a heterozygous mutation of the Nf1 gene. Neuroscience. 2006;137:637-45 pubmed
    ..Neurofibrinomin, the protein product of the NF1 gene (neurofibromin gene (human)), is a guanosine triphosphate activating protein for p21(ras)...
  13. Li W, Cui Y, Kushner S, Brown R, Jentsch J, Frankland P, et al. The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr Biol. 2005;15:1961-7 pubmed
    Neurofibromatosis Type 1 (NF1) is a common neurological disorder caused by mutations in the gene encoding Neurofibromin, a p21Ras GTPase Activating Protein (GAP). Importantly, NF1 causes learning disabilities and attention deficits...
  14. Yu X, Chen S, Potter O, Murthy S, Li J, Pulcini J, et al. Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning. Bone. 2005;36:793-802 pubmed
    ..Inactivation of neurofibromin results in deregulation of Ras signal transduction. Little is known of bone biology in humans with NF1...
  15. Bennett M, Rizvi T, Karyala S, McKinnon R, Ratner N. Aberrant growth and differentiation of oligodendrocyte progenitors in neurofibromatosis type 1 mutants. J Neurosci. 2003;23:7207-17 pubmed
    ..The data reveal a key role for neurofibromin and Ras signaling in the maintenance of CNS progenitor cell pools and also suggest a potential role for ..
  16. Ingram D, Zhang L, McCarthy J, Wenning M, Fisher L, Yang F, et al. Lymphoproliferative defects in mice lacking the expression of neurofibromin: functional and biochemical consequences of Nf1 deficiency in T-cell development and function. Blood. 2002;100:3656-62 pubmed
    ..In this study we demonstrate that neurofibromin, the protein encoded by the NF1 tumor suppressor gene functions as a GAP for Ras in T cells...
  17. Duan J, Hodgdon K, Hingtgen C, Nicol G. N-type calcium current, Cav2.2, is enhanced in small-diameter sensory neurons isolated from Nf1+/- mice. Neuroscience. 2014;270:192-202 pubmed publisher
    ..We reported previously that sensory neurons isolated from a mouse model with a heterozygous mutation of the Nf1 gene (Nf1+/-) exhibited both greater excitability and evoked release of neuropeptides compared to wildtype mice...
  18. Hawes J, Tuskan R, Reilly K. Nf1 expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies. Neurogenetics. 2007;8:121-30 pubmed
    Neurofibromatosis type 1 (NF1) is the most common cancer predisposition syndrome affecting the nervous system, with elevated risk for both astrocytoma and peripheral nerve sheath tumors...
  19. Hegedus B, Yeh T, Lee D, Emnett R, Li J, Gutmann D. Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis. Hum Mol Genet. 2008;17:2956-66 pubmed publisher
    ..We further demonstrate that the small anterior pituitary size reflects loss of neurofibromin expression in the hypothalamus, leading to reduced growth hormone releasing hormone, pituitary growth hormone (..
  20. Atit R, Mitchell K, Nguyen L, Warshawsky D, Ratner N. The neurofibromatosis type 1 (Nf1) tumor suppressor is a modifier of carcinogen-induced pigmentation and papilloma formation in C57BL/6 mice. J Invest Dermatol. 2000;114:1093-100 pubmed
    ..in codon 61 of H-ras, demonstrating strong cooperation between the Nf1 GTPase activating protein for Ras, neurofibromin, and Ras-GTP...
  21. Wang Y, Nicol G, Clapp D, Hingtgen C. Sensory neurons from Nf1 haploinsufficient mice exhibit increased excitability. J Neurophysiol. 2005;94:3670-6 pubmed
    ..NF1 results from a heterozygous mutation of the NF1 gene, leading to decreased levels of neurofibromin, the protein product of the NF1 gene...
  22. Bajenaru M, Donahoe J, Corral T, Reilly K, Brophy S, Pellicer A, et al. Neurofibromatosis 1 (NF1) heterozygosity results in a cell-autonomous growth advantage for astrocytes. Glia. 2001;33:314-23 pubmed
    Individuals with neurofibromatosis 1 (NF1) develop low-grade astrocytomas at an increased frequency...
  23. Mayes D, Rizvi T, Cancelas J, Kolasinski N, Ciraolo G, Stemmer Rachamimov A, et al. Perinatal or adult Nf1 inactivation using tamoxifen-inducible PlpCre each cause neurofibroma formation. Cancer Res. 2011;71:4675-85 pubmed publisher
    Plexiform neurofibromas are peripheral nerve sheath tumors initiated by biallelic mutation of the NF1 tumor suppressor gene in the Schwann cell lineage...
  24. Jessen W, Miller S, Jousma E, Wu J, Rizvi T, Brundage M, et al. MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors. J Clin Invest. 2013;123:340-7 pubmed publisher
    Neurofibromatosis type 1 (NF1) patients develop benign neurofibromas and malignant peripheral nerve sheath tumors (MPNST)...
  25. Riccardi V, Womack J, Jacks T. Neurofibromatosis and related tumors. Natural occurrence and animal models. Am J Pathol. 1994;145:994-1000 pubmed
  26. Zhu Y, Guignard F, Zhao D, Liu L, Burns D, Mason R, et al. Early inactivation of p53 tumor suppressor gene cooperating with NF1 loss induces malignant astrocytoma. Cancer Cell. 2005;8:119-30 pubmed
    ..We have generated mouse strains that lack p53 and harbor a conditional allele of the NF1 tumor suppressor that negatively regulates Ras signaling...
  27. Hodgdon K, Hingtgen C, Nicol G. Dorsal root ganglia isolated from Nf1+/- mice exhibit increased levels of mRNA expression of voltage-dependent sodium channels. Neuroscience. 2012;206:237-44 pubmed publisher
    We reported previously that sensory neurons isolated from mice with a heterozygous mutation of the Nf1 gene (Nf1+/-) exhibited greater excitability and increased sodium current densities compared with wildtype mice...
  28. Kim K, Ju W, Hegedus B, Gutmann D, Ellisman M. Ultrastructural characterization of the optic pathway in a mouse model of neurofibromatosis-1 optic glioma. Neuroscience. 2010;170:178-88 pubmed publisher
    ..to investigate the progression of changes in retinal ganglion cells and optic nerve glia in neurofibromatosis-1 (NF1) genetically-engineered mice with optic glioma...
  29. Zhu Y, Harada T, Liu L, Lush M, Guignard F, Harada C, et al. Inactivation of NF1 in CNS causes increased glial progenitor proliferation and optic glioma formation. Development. 2005;132:5577-88 pubmed
    The gene responsible for neurofibromatosis type 1 (NF1) encodes a tumor suppressor that functions as a negative regulator of the Ras proto-oncogene...
  30. Kolanczyk M, Kossler N, Kühnisch J, Lavitas L, Stricker S, Wilkening U, et al. Multiple roles for neurofibromin in skeletal development and growth. Hum Mol Genet. 2007;16:874-86 pubmed
    ..To investigate the role of the neurofibromin in skeletal development, we crossed Nf1flox mice with Prx1Cre mice to inactivate Nf1 in undifferentiated ..
  31. Largaespada D, Brannan C, Jenkins N, Copeland N. Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia. Nat Genet. 1996;12:137-43 pubmed
    ..chronic myelogenous leukaemia (JCML), while other patients with JCML show loss of the neurofibromatosis type 1 (NF1) gene, a Ras GTPase activating protein...
  32. Daginakatte G, Gianino S, Zhao N, PARSADANIAN A, Gutmann D. Increased c-Jun-NH2-kinase signaling in neurofibromatosis-1 heterozygous microglia drives microglia activation and promotes optic glioma proliferation. Cancer Res. 2008;68:10358-66 pubmed publisher
    Neurofibromatosis-1 (NF1) is a common tumor predisposition syndrome in which affected individuals develop benign and malignant tumors...
  33. 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...
  34. Cichowski K, Shih T, Schmitt E, Santiago S, Reilly K, McLaughlin M, et al. Mouse models of tumor development in neurofibromatosis type 1. Science. 1999;286:2172-6 pubmed
    Neurofibromatosis type 1 (NF1) is a prevalent familial cancer syndrome resulting from germ line mutations in the NF1 tumor suppressor gene...
  35. Kuorilehto T, Nissinen M, Koivunen J, Benson M, Peltonen J. NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos. J Bone Miner Res. 2004;19:983-9 pubmed
    ..type 1 is caused by mutations in the NF1 gene encoding the Ras GTPase activating protein (Ras-GAP) neurofibromin. Skeletal ailments such as short stature, kyphoscoliosis, and tibial bowing and pseudarthrosis are common ..
  36. Wehrle Haller B, Meller M, Weston J. Analysis of melanocyte precursors in Nf1 mutants reveals that MGF/KIT signaling promotes directed cell migration independent of its function in cell survival. Dev Biol. 2001;232:471-83 pubmed
    ..from chemoattractive or motogenic functions of this ligand using mice that carry a targeted mutation at the Neurofibromin (Nf1) locus and consequently lack RAS-GAP function...
  37. Kühnisch J, Seto J, Lange C, Schrof S, Stumpp S, Kobus K, et al. Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1. PLoS ONE. 2014;9:e86115 pubmed publisher
    ..debilitating focal skeletal dysplasias is a frequent observation in the Mendelian disease Neurofibromatosis type 1 (NF1)...
  38. Brannan C, Perkins A, Vogel K, Ratner N, Nordlund M, Reid S, 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 pubmed
    ..These results identify new roles for NF1 in development and indicate that some of the abnormal growth phenomena observed in NF1 patients can be recapitulated in neurofibromin-deficient mice.
  39. Birnbaum R, O Marcaigh A, Wardak Z, Zhang Y, Dranoff G, Jacks T, et al. Nf1 and Gmcsf interact in myeloid leukemogenesis. Mol Cell. 2000;5:189-95 pubmed
    The NF1 tumor suppressor gene encodes neurofibromin, a GTPase-activating protein (GAP) for p21ras (Ras). Children with NF1 are predisposed to juvenile myelomonocytic leukemia (JMML)...
  40. Guilding C, McNair K, Stone T, Morris B. Restored plasticity in a mouse model of neurofibromatosis type 1 via inhibition of hyperactive ERK and CREB. Eur J Neurosci. 2007;25:99-105 pubmed
    Patients with neurofibromatosis type 1 (NF1), resulting from neurofibromin gene mutations, frequently suffer from deficits in learning and spatial memory...
  41. Reilly K, Loisel D, Bronson R, McLaughlin M, Jacks T. Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. Nat Genet. 2000;26:109-13 pubmed
    ..We present here a mouse model of astrocytomas involving mutation of two tumour-suppressor genes, Nf1 and Trp53...
  42. Kim T, Cariappa A, Iacomini J, Tang M, Shih S, Bernards A, et al. Defective proliferative responses in B lymphocytes and thymocytes that lack neurofibromin. Mol Immunol. 2002;38:701-8 pubmed
    ..Lymphocyte development was largely unimpaired in the absence of neurofibromin. However antigen-receptor induced proliferation was defective in neurofibromin deficient peripheral B cells ..
  43. Joseph N, Mosher J, Buchstaller J, Snider P, McKeever P, Lim M, et al. The loss of Nf1 transiently promotes self-renewal but not tumorigenesis by neural crest stem cells. Cancer Cell. 2008;13:129-40 pubmed publisher
    Neurofibromatosis is caused by the loss of neurofibromin (Nf1), leading to peripheral nervous system (PNS) tumors, including neurofibromas and malignant peripheral nerve sheath tumors (MPNSTs)...
  44. Ingram D, Yang F, Travers J, Wenning M, Hiatt K, New S, et al. Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo. J Exp Med. 2000;191:181-8 pubmed
    ..Recently neurofibromin, the protein encoded by NF1, was shown to negatively regulate Ras activity in Nf1-/- murine myeloid ..
  45. O Brien D, Brenner D, Gutmann D, Gereau R. Assessment of pain and itch behavior in a mouse model of neurofibromatosis type 1. J Pain. 2013;14:628-37 pubmed publisher
    Neurofibromatosis type 1 (NF1) is characterized primarily by tumor formation in the nervous system, but patients report other neurological complications including pain and itch...
  46. Dasgupta B, Gutmann D. Neurofibromatosis 1: closing the GAP between mice and men. Curr Opin Genet Dev. 2003;13:20-7 pubmed
    b>Neurofibromatosis 1 (NF1) is a common genetic condition in which affected individuals are prone to the development of benign and malignant tumors...
  47. Yang F, Ingram D, Chen S, Hingtgen C, Ratner N, Monk K, et al. Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for Nf1+/- mast cells. J Clin Invest. 2003;112:1851-61 pubmed
    The NF1 tumor suppressor gene encodes a GTPase-activating protein called neurofibromin that negatively regulates Ras signaling. Mutations in NF1 cause neurofibromatosis type 1 (NF1)...
  48. Johannessen C, Reczek E, James M, Brems H, Legius E, Cichowski K. The NF1 tumor suppressor critically regulates TSC2 and mTOR. Proc Natl Acad Sci U S A. 2005;102:8573-8 pubmed
    ..The NF1-encoded protein, neurofibromin, functions as a Ras-GTPase activating protein (RasGAP)...
  49. Brown J, Emnett R, White C, Yuede C, Conyers S, O Malley K, et al. Reduced striatal dopamine underlies the attention system dysfunction in neurofibromatosis-1 mutant mice. Hum Mol Genet. 2010;19:4515-28 pubmed publisher
    ..and behavioral abnormalities are among the most common clinical problems in children with the neurofibromatosis-1 (NF1) inherited cancer syndrome...
  50. 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...
  51. Wu M, Wallace M, Muir D. Nf1 haploinsufficiency augments angiogenesis. Oncogene. 2006;25:2297-303 pubmed
    Mutations in the NF1 tumor-suppressor gene underlie neurofibromatosis type 1 (NF1), in which patients are predisposed to certain tumors such as neurofibromas and may associate with vascular disorder...
  52. Jacks T, Shih T, Schmitt E, Bronson R, Bernards A, Weinberg R. Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat Genet. 1994;7:353-61 pubmed
    Human neurofibromatosis type 1 is a dominant disease caused by the inheritance of a mutant allele of the NF1 gene. In order to study NF1 function, we have constructed a mouse strain carrying a germline mutation in the murine homologue...
  53. Le D, Kong N, Zhu Y, Lauchle J, Aiyigari A, Braun B, et al. Somatic inactivation of Nf1 in hematopoietic cells results in a progressive myeloproliferative disorder. Blood. 2004;103:4243-50 pubmed
    The NF1 tumor suppressor gene encodes a guanosine triphosphotase (GTPase)-activating protein that negatively regulates Ras signaling and is inactivated in a subset of juvenile myelomonocytic leukemias (JMMLs)...
  54. Elefteriou F, Benson M, Sowa H, Starbuck M, Liu X, Ron D, et al. ATF4 mediation of NF1 functions in osteoblast reveals a nutritional basis for congenital skeletal dysplasiae. Cell Metab. 2006;4:441-51 pubmed
    ..contrast, RSK2 activity, ATF4-dependent collagen synthesis, and bone formation are increased in mice lacking neurofibromin in osteoblasts (Nf1(ob)(-/-) mice)...
  55. Hegedus B, Banerjee D, Yeh T, Rothermich S, Perry A, Rubin J, et al. Preclinical cancer therapy in a mouse model of neurofibromatosis-1 optic glioma. Cancer Res. 2008;68:1520-8 pubmed publisher
    ..Because neurofibromin negatively regulates mammalian target of rapamycin (mTOR) signaling, we showed that pharmacologic mTOR ..
  56. Zhang W, Rhodes S, Zhao L, He Y, Zhang Y, Shen Y, et al. Primary osteopathy of vertebrae in a neurofibromatosis type 1 murine model. Bone. 2011;48:1378-87 pubmed publisher
    Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder caused by mutation of the NF1 tumor suppressor gene. Spinal deformities are common skeletal manifestations in patients with NF1...
  57. Alcantara Llaguno S, Chen J, Kwon C, Jackson E, Li Y, Burns D, et al. Malignant astrocytomas originate from neural stem/progenitor cells in a somatic tumor suppressor mouse model. Cancer Cell. 2009;15:45-56 pubmed publisher
    ..reported mouse models based on conditional inactivation of the human astrocytoma-relevant tumor suppressors p53, Nf1, and Pten, wherein through somatic loss of heterozygosity, mutant mice develop tumors with 100% penetrance...
  58. Zhu Y, Ghosh P, Charnay P, Burns D, Parada L. Neurofibromas in NF1: Schwann cell origin and role of tumor environment. Science. 2002;296:920-2 pubmed
    Neurofibromatosis type 1 (NF1) is one of the most prevalent dominantly inherited genetic diseases of the nervous system...
  59. Wu X, Chen S, He Y, Rhodes S, Mohammad K, Li X, et al. The haploinsufficient hematopoietic microenvironment is critical to the pathological fracture repair in murine models of neurofibromatosis type 1. PLoS ONE. 2011;6:e24917 pubmed publisher
    Germline mutations in the NF1 tumor suppressor gene cause neurofibromatosis type 1 (NF1), a complex genetic disorder with a high predisposition of numerous skeletal dysplasias including short stature, osteoporosis, kyphoscoliosis, and ..
  60. Rhodes S, Wu X, He Y, Chen S, Yang H, Staser K, et al. Hyperactive transforming growth factor-?1 signaling potentiates skeletal defects in a neurofibromatosis type 1 mouse model. J Bone Miner Res. 2013;28:2476-89 pubmed publisher
    ..Reexpression of the human, full-length neurofibromin guanosine triphosphatase (GTPase)-activating protein (GAP)-related domain (NF1 GRD) in primary Nf1-deficient ..
  61. Kwon C, Zhao D, Chen J, Alcantara S, Li Y, Burns D, et al. Pten haploinsufficiency accelerates formation of high-grade astrocytomas. Cancer Res. 2008;68:3286-94 pubmed publisher
    We previously reported that central nervous system (CNS) inactivation of Nf1 and p53 tumor suppressor genes in mice results in the development of low-grade to high-grade progressive astrocytomas...
  62. Brown J, Xu J, Diggs Andrews K, Wozniak D, Mach R, Gutmann D. PET imaging for attention deficit preclinical drug testing in neurofibromatosis-1 mice. Exp Neurol. 2011;232:333-8 pubmed publisher
    ..abnormalities represent a significant barrier to scholastic achievement in children with neurofibromatosis-1 (NF1)...
  63. Wu X, Estwick S, Chen S, Yu M, Ming W, Nebesio T, et al. Neurofibromin plays a critical role in modulating osteoblast differentiation of mesenchymal stem/progenitor cells. Hum Mol Genet. 2006;15:2837-45 pubmed
    ..Taken together, our results suggest that neurofibromin plays a crucial role in modulating MSPC differentiation into osteoblasts, and the defect in osteoblast ..
  64. Hegedus B, Dasgupta B, Shin J, Emnett R, Hart Mahon E, Elghazi L, et al. Neurofibromatosis-1 regulates neuronal and glial cell differentiation from neuroglial progenitors in vivo by both cAMP- and Ras-dependent mechanisms. Cell Stem Cell. 2007;1:443-57 pubmed publisher
    ..type 1 (NF1) develop abnormalities of both neuronal and glial cell lineages, suggesting that the NF1 protein neurofibromin is an essential regulator of neuroglial progenitor function...
  65. Garza R, Hudson R, McMahan C, Walter C, Vogel K. A mild mutator phenotype arises in a mouse model for malignancies associated with neurofibromatosis type 1. Mutat Res. 2007;615:98-110 pubmed
    ..Although most tumors that arise in humans with neurofibromatosis type 1 (NF1) are benign, these individuals are at increased risk for malignant peripheral nerve sheath tumors (MPNST)...
  66. Diwakar G, Zhang D, Jiang S, Hornyak T. Neurofibromin as a regulator of melanocyte development and differentiation. J Cell Sci. 2008;121:167-77 pubmed
    ..characteristic pigmentary lesions associated with loss of a single allele of NF1, encoding the 260 kDa protein neurofibromin. To understand the basis for these pigmentary problems, the properties of melanocytes haploinsufficient for ..