neurofibromatosis 1

Summary

Summary: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Top Publications

  1. ncbi Neurological complications of neurofibromatosis type 1 in adulthood
    A Creange
    Service de Neurologie, CHU Henri Mondor, Universite Paris XII, Creteil, France
    Brain 122:473-81. 1999
  2. ncbi The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
    D H Gutmann
    Washington University, St Louis, MO 63110, USA
    JAMA 278:51-7. 1997
  3. pmc Malignant peripheral nerve sheath tumours in neurofibromatosis 1
    D G R Evans
    University Department of Medical Genetics, St Mary s Hospital, Manchester M13 0JH, UK
    J Med Genet 39:311-4. 2002
  4. ncbi Clinical and genetic aspects of neurofibromatosis 1
    Kimberly Jett
    Department of Medical Genetics, University of British Columbia, British Columbia, Canada
    Genet Med 12:1-11. 2010
  5. pmc MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors
    Walter J Jessen
    Children s Hospital Medical Center, Division of Experimental Hematology and Cancer Biology, 3333 Burnet Ave, M L C 7013, Cincinnati, Ohio 45229, USA
    J Clin Invest 123:340-7. 2013
  6. ncbi International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis
    Rosalie E Ferner
    Department of Neuroimmunology, Guy s, King s and St Thomas s School of Medicine, London, United Kingdom
    Cancer Res 62:1573-7. 2002
  7. ncbi Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases
    Markku Miettinen
    Department of Soft Tissue Pathology, Armed Forces Institute of Pathology, 6825 16th Street NW, Bldg 54 Rm G090, Washington, DC 20306 6000, USA
    Am J Surg Pathol 30:90-6. 2006
  8. ncbi Tumour predisposition in mice heterozygous for a targeted mutation in Nf1
    T Jacks
    Center for Cancer Research, Massachusetts Institute of Technology, Cambridge 02139
    Nat Genet 7:353-61. 1994
  9. ncbi Histopathology of gastrointestinal stromal tumor
    Markku Miettinen
    National Cancer Institute, Laboratory of Pathology, Bethesda, Maryland 20892, USA
    J Surg Oncol 104:865-73. 2011
  10. pmc Oligodendrocyte progenitor cell numbers and migration are regulated by the zebrafish orthologs of the NF1 tumor suppressor gene
    Jeong Soo Lee
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA
    Hum Mol Genet 19:4643-53. 2010

Detail Information

Publications319 found, 100 shown here

  1. ncbi Neurological complications of neurofibromatosis type 1 in adulthood
    A Creange
    Service de Neurologie, CHU Henri Mondor, Universite Paris XII, Creteil, France
    Brain 122:473-81. 1999
    ..In this series, the predominant neurological features of adults with NF1 were chronic pain and malignant peripheral nerve sheath tumours...
  2. ncbi The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
    D H Gutmann
    Washington University, St Louis, MO 63110, USA
    JAMA 278:51-7. 1997
    b>Neurofibromatosis 1 and neurofibromatosis 2 are autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency...
  3. pmc Malignant peripheral nerve sheath tumours in neurofibromatosis 1
    D G R Evans
    University Department of Medical Genetics, St Mary s Hospital, Manchester M13 0JH, UK
    J Med Genet 39:311-4. 2002
    Cross sectional studies have shown that 1-2% of patients with neurofibromatosis 1 (NF1) develop malignant peripheral nerve sheath tumours (MPNST). However, no population based longitudinal studies have assessed lifetime risk.
  4. ncbi Clinical and genetic aspects of neurofibromatosis 1
    Kimberly Jett
    Department of Medical Genetics, University of British Columbia, British Columbia, Canada
    Genet Med 12:1-11. 2010
    b>Neurofibromatosis 1 is an autosomal dominant disorder characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules...
  5. pmc MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors
    Walter J Jessen
    Children s Hospital Medical Center, Division of Experimental Hematology and Cancer Biology, 3333 Burnet Ave, M L C 7013, Cincinnati, Ohio 45229, USA
    J Clin Invest 123:340-7. 2013
    ..Our data demonstrate that deregulated Ras/ERK signaling is critical for the growth of NF1 peripheral nerve tumors and provide a strong rationale for testing MEK inhibitors in NF1 clinical trials...
  6. ncbi International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis
    Rosalie E Ferner
    Department of Neuroimmunology, Guy s, King s and St Thomas s School of Medicine, London, United Kingdom
    Cancer Res 62:1573-7. 2002
    b>Neurofibromatosis 1 (NF1) is an autosomal dominant tumor predisposition syndrome in which affected individuals have a greatly increased risk of developing malignant peripheral nerve sheath tumors (MPNSTs)...
  7. ncbi Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases
    Markku Miettinen
    Department of Soft Tissue Pathology, Armed Forces Institute of Pathology, 6825 16th Street NW, Bldg 54 Rm G090, Washington, DC 20306 6000, USA
    Am J Surg Pathol 30:90-6. 2006
    ..sporadically, but there seems to be some increased tendency for these tumors to develop in patients with neurofibromatosis 1 (NF1)...
  8. ncbi Tumour predisposition in mice heterozygous for a targeted mutation in Nf1
    T Jacks
    Center for Cancer Research, Massachusetts Institute of Technology, Cambridge 02139
    Nat Genet 7:353-61. 1994
    ..The wild-type Nf1 allele is lost in approximately half of the tumours from heterozygous animals. In addition, homozygosity for the Nf1 mutation leads to abnormal cardiac development and mid-gestational embryonic lethality...
  9. ncbi Histopathology of gastrointestinal stromal tumor
    Markku Miettinen
    National Cancer Institute, Laboratory of Pathology, Bethesda, Maryland 20892, USA
    J Surg Oncol 104:865-73. 2011
    ..GISTs in NF1 patients and children are distinctive clinicopathologic groups. Immunohistochemical testing for KIT and sometimes for DOG1/Ano 1 is essential in confirming the diagnosis...
  10. pmc Oligodendrocyte progenitor cell numbers and migration are regulated by the zebrafish orthologs of the NF1 tumor suppressor gene
    Jeong Soo Lee
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA
    Hum Mol Genet 19:4643-53. 2010
    ....
  11. ncbi Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours
    Irene Bottillo
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, 00198 Rome, Italy
    J Pathol 217:693-701. 2009
    ..However, the somatic events share common characteristics with the NF1-related and the sporadic tumours...
  12. ncbi The neurofibromatosis 1 gene product neurofibromin regulates pituitary adenylate cyclase-activating polypeptide-mediated signaling in astrocytes
    Biplab Dasgupta
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 23:8949-54. 2003
    Individuals with the neurofibromatosis 1 (NF1)-inherited tumor predisposition syndrome develop low-grade astrocytomas...
  13. pmc Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
    Rosalie E Ferner
    Department of Neurology, Guy s Hospital, St Thomas St, London SE1 9RT, UK
    J Med Genet 44:81-8. 2007
    b>Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. The complications are diverse and disease expression varies, even within families...
  14. ncbi The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21
    G A Martin
    Department of Molecular Biology, Cetus Corporation, Emeryville, California 94608
    Cell 63:843-9. 1990
    ..However, its specific activity was about 30 times lower. These kinetic measurements suggest that NF1 may be a significant regulator of ras p21 activity, particularly at low ras p21 concentrations...
  15. ncbi Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Sorbonne Paris Cité, Faculte des Sciences Pharmaceutiques et Biologiques, 4 avenue de l Observatoire, Paris, France
    J Natl Cancer Inst 103:1713-22. 2011
    ..Genetic factors unrelated to the NF1 locus are thought to influence the number of plexiform neurofibromas (PNFs) in patients with NF1, but no factors have been identified to date...
  16. ncbi Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1
    Natalie Pride
    Department of Psychology, Macquarie University, Sydney, Australia
    J Child Neurol 25:834-41. 2010
    ....
  17. ncbi Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
    Hilde Brems
    Department of Human Genetics, Catholic University Leuven, 3000 Leuven, Belgium
    Nat Genet 39:1120-6. 2007
    ..To our knowledge, this is the first report of mutations in the SPRY (SPROUTY)/SPRED family of genes in human disease...
  18. ncbi Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients
    M R Wallace
    Howard Hughes Medical Institute, Ann Arbor, MI
    Science 249:181-6. 1990
    ..5-kilobase insertion in the NF1LT gene. These observations, together with the high spontaneous mutation rate of NF1 (which is consistent with a large locus), suggest that NF1LT represents the elusive NF1 gene...
  19. ncbi The nature and frequency of cognitive deficits in children with neurofibromatosis type 1
    Shelley L Hyman
    Neurogenetics Research Unit, Children s Hospital at Westmead, Australia
    Neurology 65:1037-44. 2005
    ..To assess the frequency and severity of specific cognitive deficits in children with neurofibromatosis type 1 (NF1) in a large unbiased cohort...
  20. ncbi Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
    L M Messiaen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 15:541-55. 2000
    ..We found a high frequency of unusual splice mutations outside of the AG/GT 5 cent and 3 cent splice sites. As some of these mutations form stable transcripts, it remains possible that a truncated neurofibromin is formed...
  21. pmc Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation
    G P Nielsen
    Molecular Neuro Oncology Laboratory and the James Homer Wright Pathology Laboratories, Department of Pathology and Neurosurgical Service, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Am J Pathol 155:1879-84. 1999
    Patients with neurofibromatosis 1 (NF1) are predisposed to develop multiple neurofibromas (NFs) and are at risk for transformation of NFs to malignant peripheral nerve sheath tumors (MPNSTs)...
  22. ncbi Neurofibromatosis type 1 revisited
    Virginia C Williams
    Department of Pediatrics, Medical University of South Carolina, Charleston, SC 29425, USA
    Pediatrics 123:124-33. 2009
    ..In this review, we describe the clinical manifestations, recent molecular and genetic findings, and current and developing therapies for managing clinical problems associated with neurofibromatosis type 1...
  23. ncbi A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations
    R M Cawthon
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City 84103
    Cell 62:193-201. 1990
    ..These results establish the TBR gene as the NF1 gene and provide a description of a major segment of the gene...
  24. ncbi The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins
    R Ballester
    Cold Spring Harbor Laboratory, New York 11724
    Cell 63:851-9. 1990
    ..These studies indicate that the NF1 gene product can interact with RAS proteins and demonstrate structural and functional similarities and differences among the GAP, IRA1, IRA2, and NF1 proteins...
  25. pmc Tumor microenvironment and neurofibromatosis type I: connecting the GAPs
    L Q Le
    Department of Developmental Biology and Kent Waldrep Foundation Center for Basic Research on Nerve Growth and Regeneration, The University of Texas Southwestern Medical Center, Dallas, TX, USA
    Oncogene 26:4609-16. 2007
    ..Therefore, further understanding of the molecular interactions between Schwann cells and their environment will provide tools to develop new therapies aimed at delaying or preventing tumor formation in Nf1 patients...
  26. ncbi Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumors
    Biplab Dasgupta
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri, USA
    Cancer Res 65:2755-60. 2005
    Individuals with the tumor predisposition syndrome, neurofibromatosis 1 (NF1), are prone to development of nervous system tumors, including neurofibromas and pilocytic astrocytomas...
  27. ncbi Malignant peripheral nerve sheath tumours in NF1: improved survival in women and in recent years
    Sarah Ingham
    Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, St Mary s Hospital, UK
    Eur J Cancer 47:2723-8. 2011
    Malignant peripheral nerve sheath tumours (MPNST) are the main soft tissue malignancy associated with neurofibromatosis 1. These uncommon tumours are known to occur at high frequency and lead to poor survival...
  28. ncbi Pathology of tumors of the peripheral nerve sheath in type 1 neurofibromatosis
    J M Woodruff
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Am J Med Genet 89:23-30. 1999
    ..Twenty percent of MPNSTs have unusual and potentially misleading histological features, such as epithelioid cells and divergent mesenchymal or glandular differentiation. Am. J. Med. Genet. (Semin. Med. Genet.) 89:23-30, 1999...
  29. ncbi Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results
    Gustavo S Oderich
    Division of Vascular Surgery, Mayo Clinic, Gonda Vascular Center, Rochester, MN 55905, USA
    J Vasc Surg 46:475-484. 2007
    ..Vascular abnormalities are a well-recognized manifestation of NF-I. The purpose of this study is to review the spectrum, management, and clinical outcome of patients with vascular abnormalities and NF-I...
  30. ncbi Clinical manifestations of mutations in RAS and related intracellular signal transduction factors
    Martin Zenker
    Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany
    Curr Opin Pediatr 23:443-51. 2011
    ..This review summarizes the recent literature with a special focus on genotype-phenotype correlations...
  31. pmc Genetically engineered mouse models shed new light on the pathogenesis of neurofibromatosis type I-related neoplasms of the peripheral nervous system
    Nicole M Brossier
    Department of Cell Biology, University of Alabama at Birmingham, Birmingham, AL 35294 0017, USA
    Brain Res Bull 88:58-71. 2012
    ....
  32. ncbi High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization
    Kiran K Mantripragada
    Institute of Medical Genetics, Cardiff University, School of Medicine, Heath Park, Cardiff, United Kingdom
    Clin Cancer Res 14:1015-24. 2008
    ....
  33. pmc Neurofibromin regulation of ERK signaling modulates GABA release and learning
    Yijun Cui
    Department of Neurobiology, Brain Research Institute, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Cell 135:549-60. 2008
    ..Importantly, our results also revealed lasting increases in GABA release triggered by learning, indicating that the mechanisms uncovered here are of general importance for learning...
  34. ncbi Treatment of ADHD in neurofibromatosis type 1
    Victor F Mautner
    Department of Neurosurgery, University Hospital Eppendorf Hamburg, Germany
    Dev Med Child Neurol 44:164-70. 2002
    ..It was demonstrated that stimulant medication can lead to improvement in cognitive, academic, and social problems of children with NF1 and ADHD...
  35. ncbi Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis
    Eric Pasmant
    UMR745 INSERM, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
    J Neuropathol Exp Neurol 69:60-9. 2010
    ..Some of the genes identified, particularly CCN1, might be useful diagnostic or prognostic markers or form the basis for novel therapeutic strategies...
  36. ncbi MicroRNA-10b regulates tumorigenesis in neurofibromatosis type 1
    Guolin Chai
    Maine Institute for Human Genetics and Health, Bangor, Maine
    Cancer Sci 101:1997-2004. 2010
    ..These results suggest that miR-10b may play an important role in NF1 tumorigenesis through targeting neurofibromin and RAS signaling...
  37. pmc A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1
    Irma B Stowe
    Helen Diller Family Comprehensive Cancer Center, University of California at San Francisco, San Francisco, California 94158, USA
    Genes Dev 26:1421-6. 2012
    ..This novel mechanism for the regulation of neurofibromin provides a molecular bridge for understanding the overlapping pathophysiology of NF1 and Legius syndrome...
  38. ncbi Genomic changes in chromosomes 10, 16, and X in malignant peripheral nerve sheath tumors identify a high-risk patient group
    Helge R Brekke
    Department of Cancer Prevention, Institute for Cancer Research, The Norwegian Radium Hospital, Rikshospitalet, Oslo University Hospital, Oslo, Norway
    J Clin Oncol 28:1573-82. 2010
    ..The purpose of this study was to identify genetic aberrations contributing to clinical aggressiveness of malignant peripheral nerve sheath tumors (MPNSTs)...
  39. pmc Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)
    Maria Masocco
    National Centre for Epidemiology, Surveillance and Health Promotion, Italian National Institute of Health ISS, Rome, Italy
    Orphanet J Rare Dis 6:11. 2011
    ....
  40. pmc Survival meta-analyses for >1800 malignant peripheral nerve sheath tumor patients with and without neurofibromatosis type 1
    Matthias Kolberg
    Department of Cancer Prevention, Institute for Cancer Research, The Norwegian Radium Hospital, Montebello, Oslo University Hospital, NO 0424 Oslo, Norway
    Neuro Oncol 15:135-47. 2013
    ..These observations support the hypothesis that MPNSTs arising in NF1 and non-NF1 patients are not different per se. Consequently, we suggest that the choice of treatment for MPNST should be independent of NF1 status...
  41. ncbi Prognostic significance of AKT/mTOR and MAPK pathways and antitumor effect of mTOR inhibitor in NF1-related and sporadic malignant peripheral nerve sheath tumors
    Makoto Endo
    Departments of Anatomic Pathology and Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka, Japan
    Clin Cancer Res 19:450-61. 2013
    ..Moreover, we assessed the antitumor effects of the inhibitor of candidate target...
  42. ncbi The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae
    G F Xu
    Howard Hughes Medical Institute, University of Utah School of Medicine, Salt Lake City 84132
    Cell 63:835-41. 1990
    ..These results establish that this NF1 domain has ras GAP activity similar to that found with IRA2 protein and mammalian GAP, and therefore may also regulate ras function in vivo...
  43. ncbi Insights into the pathogenesis of neurofibromatosis 1 vasculopathy
    S J Hamilton
    Department of Medical Genetics, University of British Columbia and Children s and Women s Health Centre of British Columbia, Vancouver, Canada
    Clin Genet 58:341-4. 2000
    Intrinsic lesions of arterial walls are an important manifestation of neurofibromatosis 1 (NF1)...
  44. ncbi Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder
    Shelley L Hyman
    Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, Australia
    Dev Med Child Neurol 48:973-7. 2006
    ..We were able to define three subtypes of children with NF1 having distinct cognitive profiles, each with important implications for assessment and remediation...
  45. ncbi Frequency of choroidal abnormalities in neurofibromatosis type 1
    T Yasunari
    Department of Ophthalmology, Osaka City University Medical School, Osaka, Japan
    Lancet 356:988-92. 2000
    ..We studied choroidal abnormalities in patients with neurofibromatosis 1 and compared their frequency with that of other ocular abnormalities.
  46. ncbi Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1
    Francesco Viola
    Universita degli Studi di Milano, UO Oculistica, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    Ophthalmology 119:369-75. 2012
    ....
  47. ncbi Brain structure and function in neurofibromatosis type 1: current concepts and future directions
    Jonathan M Payne
    Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Locked Bag 4001, Westmead NSW 2145, Sydney, Australia
    J Neurol Neurosurg Psychiatry 81:304-9. 2010
    ..Identifying the underlying neuropathology of NF1 will be of increased importance as targeted interventions begin to emerge...
  48. pmc Genetic and cellular evidence of vascular inflammation in neurofibromin-deficient mice and humans
    Elisabeth A Lasater
    Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, 46202, USA
    J Clin Invest 120:859-70. 2010
    ....
  49. ncbi Clinical risk factors for mortality in patients with neurofibromatosis 1: a cohort study of 378 patients
    Kiarash Khosrotehrani
    Department of Dermatology, Hopital Henri Mondor, Assistance Publique Hopitaux de Paris, Creteil, France
    Arch Dermatol 139:187-91. 2003
    To identify the main clinical features associated with mortality in patients with neurofibromatosis 1.
  50. ncbi Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children
    M J Descheemaeker
    Centre for Human Genetics, University of Leuven, Leuven, Belgium
    J Intellect Disabil Res 49:33-46. 2005
    ..In the present study the neuropsychological, academic and social-emotional profiles were examined in Neurofibromatosis type 1 (NF1) children...
  51. ncbi Association between benign and malignant peripheral nerve sheath tumors in NF1
    T Tucker
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Neurology 65:205-11. 2005
    ..The authors conducted a study to determine whether people with NF1 who have benign neurofibromas of various kinds are at greater risk of developing MPNSTs than patients with NF1 who lack these benign tumors...
  52. pmc Mortality in neurofibromatosis 1: an analysis using U.S. death certificates
    S A Rasmussen
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
    Am J Hum Genet 68:1110-8. 2001
    Although neurofibromatosis 1 (NF1) is a relatively common autosomal dominant condition, information about its effect on mortality is limited. We used Multiple-Cause Mortality Files, compiled from U.S...
  53. ncbi Gains in chromosomes 7, 8q, 15q and 17q are characteristic changes in malignant but not in benign peripheral nerve sheath tumors from patients with Recklinghausen's disease
    H Schmidt
    Institute of Pathology, Martin Luther University Halle Wittenberg, Magdeburger Strasse 14, D 06097, Halle, Germany
    Cancer Lett 155:181-90. 2000
    ..On the other hand in the MPNSTs from NF1-patients the most frequent gains were found in #7, and statistically significant in 15q, and 17q...
  54. pmc Neurofibromas in NF1: Schwann cell origin and role of tumor environment
    Yuan Zhu
    Center for Developmental Biology, Department of Pathology, University of Texas Southwestern Medical Center, 6000 Harry Hines Boulevard, Dallas, TX 75390 9133, USA
    Science 296:920-2. 2002
    ..The requirement for a permissive haploinsufficient environment to allow tumorigenesis may have therapeutic implications for NF1 and other familial cancers...
  55. ncbi The neurofibromatosis type 1 gene product neurofibromin enhances cell motility by regulating actin filament dynamics via the Rho-ROCK-LIMK2-cofilin pathway
    Tatsuya Ozawa
    Department of Tumor Genetics and Biology, Graduate School of Medical Sciences, Kumamoto University, Japan
    J Biol Chem 280:39524-33. 2005
    ..These findings may explain, in part, the mechanism of multiple neurofibroma formation in NF1 patients...
  56. ncbi Cognitive impairment in neurofibromatosis type 1
    S Ozonoff
    Department of Psychology, University of Utah, Salt Lake City 84112 0251, USA
    Am J Med Genet 89:45-52. 1999
    ..Further work clarifying the cognitive phenotype of NF1 is needed, especially investigations that employ appropriate comparison groups matched for intellectual level. Am. J. Med. Genet. (Semin. Med. Genet.) 89:45-52, 1999...
  57. pmc High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene
    H Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Ulm, Germany
    Am J Hum Genet 75:410-23. 2004
    ..Thus, NF1 microdeletions acquired during mitotic cell divisions differ from those occurring in meiosis and are caused by different mechanisms...
  58. ncbi Cognitive control in adolescents with neurofibromatosis type 1
    I Rowbotham
    School of Psychology, University of Southampton, Southampton, England
    Neuropsychology 23:50-60. 2009
    ..Evidence was also found for more basic motor skill problems in NF1 patients. Furthermore, NF1 patients were generally slower than controls. Results are discussed in the context of what is known about brain-cognition relationships in NF1...
  59. ncbi Genetic basis of tumorigenesis in NF1 malignant peripheral nerve sheath tumors
    Meena Upadhyaya
    Institute of Medical Genetics, Cardiff University, Heath Park Campus, Cardiff CF14 4XN, United Kingdom
    Front Biosci (Landmark Ed) 16:937-51. 2011
    ..Multidisciplinary collaborative efforts are clearly essential to fully decipher both the complex molecular basis of MPNST development and to define potential therapeutic targets...
  60. pmc Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
    Audrey Sabbagh
    Faculte des Sciences Pharmaceutiques et Biologiques, UMR745 INSERM, Universite Paris Descartes, Paris 75006, France
    Hum Mol Genet 18:2768-78. 2009
    ..Taken together, our results provided evidence that genetic modifiers, unlinked to the NF1 locus, contribute to the variable expressivity of the disease...
  61. pmc Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1
    Victor F Mautner
    Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany
    Neuro Oncol 10:593-8. 2008
    People with neurofibromatosis 1 (NF1) have multiple benign neurofibromas and a 10% lifetime risk of developing malignant peripheral nerve sheath tumors (MPNSTs)...
  62. ncbi Plexiform neurofibromas in NF1: toward biologic-based therapy
    R J Packer
    Department of Neurology, Children s National Medical Center, George Washington University, Washington, DC 20010, USA
    Neurology 58:1461-70. 2002
    ..The ability to design more rational therapies for NF1-associated neurofibromas is heavily predicated on an improved understanding of the molecular and cellular biology of the cells involved in neurofibroma formation and growth...
  63. ncbi Malignant peripheral nerve sheath tumors: prognostic factors and survival in a series of patients treated at a single institution
    Matteo Anghileri
    Department of Surgery, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milan, Italy
    Cancer 107:1065-74. 2006
    ..The authors explored the prognostic factors and clinical outcomes of patients who had malignant peripheral nerve sheath tumors (MPNST) with and without neurofibromatosis type 1 (NF-1)...
  64. ncbi Clinical, pathological, and molecular variables predictive of malignant peripheral nerve sheath tumor outcome
    Changye Zou
    Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA
    Ann Surg 249:1014-22. 2009
    ..Consequently, we sought to identify clinical, pathologic, and molecular predictors of outcome in patients with/without neurofibromatosis type 1 (NF-1) associated MPNST...
  65. ncbi Plexiform neurofibromas
    B R Korf
    Division of Genetics, Department of Neurology, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Am J Med Genet 89:31-7. 1999
    ..Am. J. Med. Genet. (Semin. Med. Genet.) 89:31-37, 1999...
  66. ncbi Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1
    Rui M Costa
    Departments of Neurobiology, Psychiatry and Psychology, BRI, University of California at Los Angeles, Los Angeles, California 90095 1761, USA
    Nature 415:526-30. 2002
    ..Our findings have implications for the development of treatments for learning deficits associated with NF1...
  67. ncbi Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis
    W Xu
    Department of Pathology, University of Cambridge, United Kingdom
    Genes Chromosomes Cancer 4:337-42. 1992
    ..In each of the 3 tumours for which this could be determined, the loss involved the wild-type chromosome. These results provide strong evidence that, in cells of the adrenal medulla at least, the NFI gene may act as a tumour suppressor...
  68. pmc Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France
    Tu anh Duong
    AP HP, Hopital Henri Mondor, Service de Dermatologie, F 94010 Creteil, France
    Orphanet J Rare Dis 6:18. 2011
    b>Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited...
  69. pmc Identification of growth hormone receptor in localised neurofibromas of patients with neurofibromatosis type 1
    K S G Cunha
    Federal Fluminense University, Medicine School, Pathology Department, Niteroi, Rio de Janeiro, Brazil
    J Clin Pathol 56:758-63. 2003
    ..Because growth hormone (GH) concentrations increase during puberty, it is possible that GH influences the growth of these tumours...
  70. ncbi Diffusion tensor MR imaging in neurofibromatosis type 1: expanding the knowledge of microstructural brain abnormalities
    José R L Ferraz-Filho
    Radiology Department, Medical School in São José do Rio Preto, 5544 Brigadeiro Faria Lima, Sao Paulo, Brazil
    Pediatr Radiol 42:449-54. 2012
    ..MRI with diffusion tensor imaging (DTI) is used to detect white matter abnormalities by measuring fractional anisotropy (FA)...
  71. ncbi Contribution of diffusion tensor MR imaging in detecting cerebral microstructural changes in adults with neurofibromatosis type 1
    S L Zamboni
    MR Center, University Children s Hospital, Zurich, Switzerland
    AJNR Am J Neuroradiol 28:773-6. 2007
    ..The purpose of this study was to investigate whether adult patients with NF-1 exhibit generalized microstructural alterations even in normal-appearing brain regions...
  72. ncbi In vitro studies of steroid hormones in neurofibromatosis 1 tumors and Schwann cells
    Lauren Fishbein
    Department of Molecular Genetics and Microbiology, UF College of Medicine, University of Florida, Gainesville, FL 32610, USA
    Mol Carcinog 46:512-23. 2007
    ..Our data suggest that steroid hormones can directly influence neurofibroma initiation or progression by acting through their cognate receptor, but that these effects may only apply to a subset of tumors, in either gender...
  73. ncbi Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases
    Patricia Z Page
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA
    Am J Med Genet A 140:1893-8. 2006
    b>Neurofibromatosis 1 (NF1), a genetic condition most commonly characterized by the presence of dermal neurofibromas and café au lait macules, has a significant impact on Quality of Life (QoL)...
  74. ncbi T2-weighted hyperintensities (unidentified bright objects) in children with neurofibromatosis 1: their impact on cognitive function
    Winnie H S Goh
    The Duchess of Kent Children s Habilitation Institute, Hong Kong
    J Child Neurol 19:853-8. 2004
    ..T2-weighted hyperintensities (unidentified bright objects) on the cognitive function of children with neurofibromatosis 1 is controversial...
  75. ncbi Brain apparent diffusion coefficient evaluation in pediatric patients with neurofibromatosis type 1
    Giuseppe Tognini
    Dipartimento di Scienze Cliniche, Sezione Diagnostica per Immagini, Universita di Parma, Parma, Italy
    J Comput Assist Tomogr 29:298-304. 2005
    ..The aim of this study was to investigate the isotropic apparent diffusion coefficient (ADC) values within the UBOs and normal-appearing brain and at the regressed UBO sites...
  76. ncbi Cognitive profile of neurofibromatosis type 1
    Terry M Levine
    Kennedy Krieger Institute, Department of Developmental Cognitive Neurology, Baltimore, MD 21205, USA
    Semin Pediatr Neurol 13:8-20. 2006
    ..Consistent with previous reviews, no clear cognitive profile emerged; however, greater insight into patterns was obtained. Additionally, future directions for research on NF1 were suggested...
  77. ncbi Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force
    J M Friedman
    Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, BC V6T 1Z3, Canada
    Genet Med 4:105-11. 2002
    Patients with neurofibromatosis 1 (NF1) are at increased risk for a variety of cardiovascular disorders, but the natural history and pathogenesis of these abnormalities are poorly understood.
  78. pmc GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype
    M Bahuau
    J Med Genet 38:638-43. 2001
  79. ncbi Mouse models of tumor development in neurofibromatosis type 1
    K Cichowski
    Department of Biology and Center for Cancer Research and Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Science 286:2172-6. 1999
    ..These two mouse models provide the means to address fundamental aspects of disease development and to test therapeutic strategies...
  80. pmc Mouse tumor model for neurofibromatosis type 1
    K S Vogel
    Center for Developmental Biology and Department of Pathology, University of Texas Southwestern Medical Center, 6000 Harry Hines Blvd, Dallas, TX 75235 9133, USA
    Science 286:2176-9. 1999
    ..These sarcomas exhibit loss of heterozygosity at both gene loci and express phenotypic traits characteristic of neural crest derivatives and human NF1 malignancies...
  81. ncbi The neurofibromatosis type 1 gene encodes a protein related to GAP
    G F Xu
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City 84132
    Cell 62:599-608. 1990
    ..Mapping of the cDNA clones has confirmed that NF1 spans a t(1;17) translocation mutation and that three active genes lie within an intron of NF1, but in opposite orientation...
  82. ncbi Genomic imbalances of 7p and 17q in malignant peripheral nerve sheath tumors are clinically relevant
    H Schmidt
    Institute of Pathology, Martin Luther University Halle Wittenberg, Halle, Germany
    Genes Chromosomes Cancer 25:205-11. 1999
    ..The occurrence of gain of both 7p15-p21 and 17q22-qter was associated with a statistically significant poor overall survival rate (P = 0.0096)...
  83. ncbi Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)
    T Tucker
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    J Med Genet 46:259-65. 2009
    Patients with neurofibromatosis 1 (NF1) are shorter than expected and often have low bone mineral density (BMD), but the pathogenesis of these bony problems is poorly understood.
  84. ncbi Gene expression profiling reveals unique molecular subtypes of Neurofibromatosis Type I-associated and sporadic malignant peripheral nerve sheath tumors
    Mark A Watson
    Department of Pathology and Immunology, Washington University School of Medicine, St Louis, MO 63110, USA
    Brain Pathol 14:297-303. 2004
    ..We conclude that distinct molecular classes of MPNST exist and that the ability to stratify these tumors based on unique and biologically relevant gene expression profiles may be important for future targeted therapeutics...
  85. ncbi Malignant peripheral nerve sheath tumors
    Richard G Perrin
    Toronto Western Hospital, University of Toronto, 399 Bathurst Street, Toronto M5T 2S8, Canada
    Neurosurg Clin N Am 15:203-16. 2004
    ..Proper evaluation of these novel and promising management strategies requires a concerted effort to refer these patients to the tertiary centers through which multi-institutional clinical trials can be undertaken...
  86. ncbi Pseudotumoral presentation of a cervical extracranial vertebral artery aneurysm in neurofibromatosis type 1: case report
    Matthieu Peyre
    Department of Neurosurgery, Bicetre Hospital, Le Kremlin Bicetre, France
    Neurosurgery 61:E658; discussion E658. 2007
    ..Neurofibromatosis Type 1 (NF1) is known to be associated with vascular lesions. Association with an extracranial vertebral artery aneurysm is very rare. We report the case of such an aneurysm mimicking a cervical neurofibroma in NF1...
  87. ncbi Increased brain apparent diffusion coefficient in children with neurofibromatosis type 1
    J D Eastwood
    Department of Radiology, Duke University Medical Center, Box 3808, Durham, NC 27710, USA
    Radiology 219:354-8. 2001
    ....
  88. ncbi Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2
    Siriporn Patrakitkomjorn
    Department of Tumor Genetics and Biology, Graduate School of Medical Sciences, Kumamoto University School of Medicine, Kumamoto, Japan
    J Biol Chem 283:9399-413. 2008
    ....
  89. pmc Valosin-containing protein and neurofibromin interact to regulate dendritic spine density
    Hsiao Fang Wang
    Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan
    J Clin Invest 121:4820-37. 2011
    ..The data presented here demonstrate that there is a link between IBMPFD and NF1 and indicate a role for VCP in synapse formation...
  90. ncbi Spontaneous aortic dissection and rupture in a patient with neurofibromatosis
    D K Chew
    Division of Vascular Surgery, Brigham and Women s Hospital, Harvard Medical School, Boston, Mass 02115, USA
    J Vasc Surg 34:364-6. 2001
    ..A review of the literature about pathogenesis and management strategies is also presented...
  91. ncbi Spontaneous rupture of an intercostal artery in a patient with neurofibromatosis type 1
    Kei Aizawa
    Division of Cardiovascular Surgery, Jichi Medical University, 3311 1 Yakushiji, Shimotsuke, Tochigi, 329 0498, Japan
    Interact Cardiovasc Thorac Surg 10:128-30. 2010
    ..Magnetic resonance imaging (MRI) showed spinal cord compression at the level of the 9th and 10th vertebrae. We evacuated the cellulose and coagulum. The patient's paraplegia improved and within six months he was walking without a crutch...
  92. ncbi Neurofibromatosis 1-associated neuropathies: a reappraisal
    Alain Drouet
    Service de Neurologie, Hopital d Instruction des Armees Desgenettes, Lyon, France
    Brain 127:1993-2009. 2004
    b>Neurofibromatosis 1 (NF1) is a common disease which is a source of various multisystemic manifestations related either to the accumulation of neurofibromas or to specific developmental abnormalities...
  93. ncbi S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas
    Tracy Tucker
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    J Neurosci Res 89:1451-60. 2011
    b>Neurofibromatosis 1 (NF1) is an autosomal dominant disease that predisposes individuals to developing benign neurofibromas...
  94. ncbi Neurofibromas in children with neurofibromatosis 1
    Tena Rosser
    Department of Neurology and Pediatrics, Center for Neuroscience and Behavioral Medicine, Children s National Medical Center, The George Washington University, Washington, DC 20010, USA
    J Child Neurol 17:585-91; discussion 602-4, 646-51. 2002
    b>Neurofibromatosis 1 is a common autosomal dominant disease reported in approximately 1 in 3000 individuals...
  95. ncbi Associations of clinical features in neurofibromatosis 1 (NF1)
    J Szudek
    Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada
    Genet Epidemiol 19:429-39. 2000
    b>Neurofibromatosis 1 (NF1), an autosomal dominant disease, exhibits extreme clinical variability. This variability greatly increases the burden for affected families and impairs our ability to understand the pathogenesis of NF1...
  96. ncbi Neurofibromatosis 1: clinical manifestations and diagnostic criteria
    J M Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    J Child Neurol 17:548-54; discussion 571-2, 646-51. 2002
    b>Neurofibromatosis 1 occurs in 2 to 3 people per 10,000...
  97. ncbi Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors
    Eline Beert
    Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
    Genes Chromosomes Cancer 50:1021-32. 2011
    ..These data support the hypothesis that atypical neurofibromas are premalignant tumors, with the CDKN2A/B deletion as the first step in the progression toward MPNST...
  98. ncbi Periampullary and duodenal neoplasms in neurofibromatosis type 1: two cases and an updated 20-year review of the literature yielding 76 cases
    Daniel Relles
    Department of Surgery, Thomas Jefferson University and the Jefferson Pancreas, Biliary, and Related Cancer Center, Philadelphia, PA, USA
    J Gastrointest Surg 14:1052-61. 2010
    ..Here, we briefly describe two male patients with NF1 and review the recent literature on this topic...
  99. pmc Does cognitive impairment explain behavioral and social problems of children with neurofibromatosis type 1?
    Stephan C J Huijbregts
    Department of Education and Child Studies, Clinical Child and Adolescent Studies, Leiden Institute for Brain and Cognition, Leiden University, The Netherlands
    Behav Genet 41:430-6. 2011
    ....
  100. ncbi Megalencephaly in NF1: predominantly white matter contribution and mitigation by ADHD
    L E Cutting
    aMRI Analysis Laboratory, Kennedy Krieger Institute, Baltimore, MD 21205, USA
    Neurology 59:1388-94. 2002
    ....
  101. pmc Reduced striatal dopamine underlies the attention system dysfunction in neurofibromatosis-1 mutant mice
    Jacquelyn A Brown
    Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
    Hum Mol Genet 19:4515-28. 2010
    ..Collectively, these data establish abnormal DA homeostasis as the primary biochemical defect underlying the attention system dysfunction in Nf1 GEM relevant to children with NF1...

Research Grants64

  1. Study of Anti-Survival signals in NF1
    CHANGYAN CHEN; Fiscal Year: 2013
    ..of critical molecular events in this mitotic crisis will allow efficient therapeutic interventions of neurofibromatosis 1. To test this hypothesis, we will: 1) investigate the mechanism by which Plk1/cdc14B axis regulates the ..
  2. The Role of RAS/MAPK Signaling in Alveolar Process Development
    Amnon Sharir; Fiscal Year: 2013
    ..These include, among others, Noonan syndrome, neurofibromatosis 1, Costello syndrome (CS) and cardio-facio-cutaneous syndrome...
  3. NEUROFIBROMATOSIS TYPE 1 GENE REGULATES MYELOPOIESIS
    DAVID W CLAPP; Fiscal Year: 2012
    ..If the hypothesis is correct, we would predict that developing small molecules that inhibit Pak1 function could be useful as a molecular therapy for treatment of plexiform neurofibromas. ..
  4. The Roles of Tumor Microenvironment in Neurofibroma Development and Therapeutics
    Lu Le; Fiscal Year: 2013
    ..An increased understanding of the role of non-neoplastic tumor-associated cells may lead to new directions for cancer therapy and prevention. ..
  5. Effect of NF1 mutation on choroid plexus function
    Sally Temple; Fiscal Year: 2013
    ..This could help reduce environmental factors that exacerbate neurofibromatosis type 1 and thus attenuate progression of the disease in the CNS. ..
  6. Hu proteins as novel splicing regulators in neurons
    Hua Lou; Fiscal Year: 2013
    ..The CNS neuronal differentiation system to be developed will serve as a valuable new alternative model in studies of neuron-specific splicing regulation. ..
  7. Hu proteins as novel splicing regulators in neurons
    Hua Lou; Fiscal Year: 2009
    ..The CNS neuronal differentiation system to be developed will serve as a valuable new alternative model in studies of neuron-specific splicing regulation. ..
  8. Preclinical Testing of Targeted Therapies for Neurofibromas
    DAVID W CLAPP; Fiscal Year: 2011
    ..Finally, using a combination of PET and CT imaging, we now have the ability to image the development, growth, and metabolism of plexiform neurofibromas in genetically engineered mice in vivo as a function of time. ..
  9. Evaluating the role of NRG-1 receptors in MPNST tumorigenesis
    STEPHANIE NICOLE BROSIUS; Fiscal Year: 2013
    ..The work proposed here will attempt to isolate the tumor initiating cells and understand the key signaling cascades required for tumor development in order to identify potential chemotherapeutic targets. ..
  10. p21-Activated Kinases as New Therapeutic Targets in Neurofibromatosis Type 1
    JONATHAN D CHERNOFF; Fiscal Year: 2013
    ..abstract_text> ..
  11. Characterizing the glioma cell of origin in vivo using MADM, a mouse genetic mosa
    Hui Zong; Fiscal Year: 2013
    ..As a consequence, the enhanced specificity should lead to more effective and less toxic drugs, which could eventually provide a cure for gliomas. ..
  12. Novel Treatment of NF-1 Associated Malignant Peripheral Nerve Sheath Tumors
    Steven L Carroll; Fiscal Year: 2012
    ..Inappropriate stimulation by growth factors is thought to cooperate with mutations of tumor suppressor genes such as NF1 and p53 to promote MPNST tumorigenesis. ..
  13. Understanding Mechanisms Underlying Drosophila Neurofibromatosis-1 Defects
    Andre Bernards; Fiscal Year: 2011
    ....
  14. The role of mTORC1 in the development and therapeutic targeting of NF1-associated
    Yuan Zhu; Fiscal Year: 2013
    ....
  15. Mechanisms for Neurological Dysfunction in NF1 and Noonan Syndrome
    Alcino J Silva; Fiscal Year: 2013
    ..One of these pharmacological inhibitors (lovastatin), currently being tested in NF1 clinical trials, could also eventually be tested in NS clinical trials. ..
  16. Drosophila models of human cognitive disorders: NF1 and Noonan syndrome
    Yi Zhong; Fiscal Year: 2012
    ..Study of these mutations will allow us gaining insights into molecular basis underlying memory retrieval and memory formation. Such understanding will in turn facilitate development of treatment for the disorders. ..
  17. Characterizing the role of specific Ras proteins in neurofibroma and MPNST format
    Preeti Tandon; Fiscal Year: 2013
    ..The overall goal of this research is to delineate the functions of Ras proteins in NF1 pathogenesis and to identify novel therapeutic strategies based on inhibition of specific Ras proteins. ..
  18. Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway
    Bruce R Korf; Fiscal Year: 2013
    ..These syndromes, including Noonan, Noonan with multiple lentigines, Costello, cardio-facio-cutaneous, and neurofibromatosis 1, have overlapping phenotypic features including facial dysmorphia, cardiovascular anomalies, ..
  19. MITOGENIC ACTIVITIES IN NEUROFIBROMATOSIS
    Nancy Ratner; Fiscal Year: 2013
    ..Together these studies will identify cellular and molecular underpinnings of tumor formation in the nervous system, and identify therapeutic targets for the treatment of NF1. ..
  20. NEUROFIBROMIN REGULATION OF NEURAL STEM CELL FUNCTION IN VITRO AND IN VIVO
    David H Gutmann; Fiscal Year: 2013
    ..These studies may lead to the development of therapies that specifically target the critical growth and fate control pathways that cause brain tumors in children. ..
  21. Genetic dissection of circadian output pathways in Drosophila
    Daniel Cavanaugh; Fiscal Year: 2013
    ..Finally, Specific Aim 3 seeks to determine the locus of action of the known circadian output gene, Neurofibromatosis 1, as well as downstream components of its signaling cascade...
  22. Non-redundant functions of Hu proteins as neuron-specific splicing regulators
    Melissa N Hinman; Fiscal Year: 2012
    ..In addition, my studies will increase understanding of the molecular functions of the Hu proteins, which are associated with a disease called paraneoplastic syndrome. ..
  23. Growth Factor-Induced Peripheral Gliogenesis
    Donald Pizzo; Fiscal Year: 2007
    ..Furthermore, the development of a quantitative tumor model allows for the assessment of small molecule therapeutics in a pre-clinical setting. [unreadable] [unreadable]..
  24. STROMAL CONTRIBUTIONS TO NF1 GLIOMA FORMATION AND GROWTH
    Joshua B Rubin; Fiscal Year: 2013
    ..abstract_text> ..
  25. PHEOCHROMOCYTOMAS FROM NEUROFIBROMATOSIS KNOCKOUT MICE
    Arthur Tischler; Fiscal Year: 2003
    ..4) To determine the status of neurofibromin in MPC cells and test the hypothesis that abnormal regulation of ras activity is responsible for neuronal differentiation in this model. ..
  26. Identification of Drug Targets for NF1
    Yolanda Sanchez; Fiscal Year: 2010
    ..There is no better model than the yeast for these types of screens, thus by combining these two models we present a powerful approach for screening compounds to identify and validate potential drug targets for NF1. ..
  27. Genomics of Pediatric Headache Disorders
    Andrew Hershey; Fiscal Year: 2006
    ..The results of this study should help in beginning to develop a molecular genomic approach for the diagnosis and treatment of different headache disorders. ..
  28. MOLECULAR CLONING AND ANALYSIS OF HUMAN GENOMIC REGIONS
    Donald Moir; Fiscal Year: 1990
    ..DNA probes genetically linked to the genes for neurofibromatosis 1, adult polycystic kidney disease familial polyposis, and multiple endocrine neoplasia (type 2A) will be ..
  29. NEUROFIBROMATOSIS TYPE 1 GENE REGULATES MYELOPOIESIS
    DAVID CLAPP; Fiscal Year: 2001
    ....
  30. The role of Pak1 in regulating plexiform neurofibroma formation
    Andrew McDaniel; Fiscal Year: 2009
    ..Preventing or reducing the size of these tumors could increase quality of life for tens of thousands of affected individuals each year. ..
  31. GENETIC LINKAGE MAPPING OF FAMILIAL BENIGN HYPERCALCEMIA
    Hunter Heath; Fiscal Year: 1991
    ..In the future, the techniques will be applicable to the study of other hereditary endocrine diseases by the principal investigator...
  32. NF1 GENE IN MYELOID LEUKEMIA AND CYTOKINE SIGNALING
    DAVID LARGAESPADA; Fiscal Year: 2002
    ....
  33. Spinal abnormalities in neurofibomatosis type 1
    David H Viskochil; Fiscal Year: 2010
    ..This proposal will identify variables in patients with NF1 as prognostic factors for dystrophic scoliosis to improve clinical management. ..
  34. STATUS OF P53 IN A LFS CANCER PRONE FAMILY
    Esther Chang; Fiscal Year: 1999
    ....
  35. FUNCTION OF MIDKINE IN NEUROFIBROMATOSIS
    Andreas Kurtz; Fiscal Year: 2002
    ..In Aim 4 he proposes to study whether MK levels can be detected in skin and/or serum samples of NF1 patients and may serve as a diagnostic indicator for NF1. ..
  36. Elucidating the Function of the NF1 tumor suppressor and its effector pathways in
    KAREN M CICHOWSKI; Fiscal Year: 2013
    ....
  37. Neurofibromin, Ras & NFAT in Cardiovascular Development
    FRAZ ISMAT; Fiscal Year: 2009
    ..Together this training program will prepare me for independent investigation, lead to a better understanding of cardiovascular abnormalities in neurofibromatosis, and address fundamental issues of cardiovascular development. ..
  38. JOINT CONFERENCE ON NEGATIVE AND POSITIVE GROWTH CONTROL
    Harold Moses; Fiscal Year: 1992
    ..Having concurrent meetings on these topics should provide significant synergy and beneficial interactions that otherwise could not be achieved...
  39. THE ROLE OF NEUROFIBROMIN IN NEURONAL DEVELOPMENT
    Luis Parada; Fiscal Year: 2004
    ....
  40. Spatial compartmentalization of Ras-MAPK signaling by KSR1 in neurons
    ERZSEBET MARIA SZATMARI; Fiscal Year: 2010
    ..that cause cognitive impairment and learning deficits, such as autism, X-linked mental retardation and neurofibromatosis 1, are associated with dysfunctions in Ras-MAPK signaling...
  41. NF-1 GENE EXPRESSION IN HUMAN SCHWANN CELL FUNCTION
    J Rutkowski; Fiscal Year: 1999
    ....
  42. DEVELOPMENTAL INFLUENCES ON NEURAL CREST CELLS
    GERALD MAXWELL; Fiscal Year: 1999
    ..These include neurofibromatosis 1, familial dysautonomia, and several craniofacial anomalies...
  43. GENETIC AND MOLECULAR STUDIES OF NEUROFIBROMATOSIS 1
    James Gusella; Fiscal Year: 2000
    ....
  44. REGULATION OF NF1 GENE EXPRESSION DURING DIFFERENTIATION
    David Gutmann; Fiscal Year: 1999
    ..An examination of the differential expression and functional properties of these isoforms will provide additional insights into the role of this important tumor suppressor gene in both health and disease. ..
  45. Advanced Molecular Diagnostic Test for Neurofibromatosis
    Mark Lim; Fiscal Year: 2009
    ..If successful, the test will enable more extensive screening and consequently increased surveillance and better management of NF1. ..
  46. Osseous Abnormalities in Neurofibromatosis Type 1
    David Stevenson; Fiscal Year: 2009
    ..abstract_text> ..
  47. TUBEROUS SCLEROSIS AND ALLIED DISORDERS
    William Johnson; Fiscal Year: 1990
    ..Finally, linkage data for neurofibromatosis 1 and 2 and von Hippel-Lindau disease will be presented since these closely related phakomatoses are likely ..
  48. Mechanisms for Neurological Dysfunction in NF1
    Alcino Silva; Fiscal Year: 2007
    ..Importantly, they will also be crucial for developing targeted treatments for the debilitating learning disabilities associated with Neurofibromatosis Type I. ..
  49. DROSOPHILA MODELS FOR STUDYING FUNCTION OF THE NF1 GENE
    Yi Zhong; Fiscal Year: 2003
    ..proposal utilizes Drosophila models for investigating mechanisms and functions of the tumor suppressor gene neurofibromatosis 1 (NF1)...
  50. Translational Investigation of NF1 in Myeloid Luekemia
    Kevin Shannon; Fiscal Year: 2006
    ..Together, these studies will provide new insights into how Ras signaling is normally regulated in myeloid cells, and how hyperactive Ras contributes to leukemogenesis. ..
  51. Neural stem cells in DRG and neurofibromatosis type 1
    Nancy Joseph; Fiscal Year: 2006
    ..I hope to gain important new insights into the regulation of NCSC fate determination, the role of stem cells in PNS development, and the etiology of neurofibromatosis. ..
  52. MOLECULAR GENETICS OF NEUROFIBROMATOSIS TYPE 1
    David Viskochil; Fiscal Year: 1993
    ..He will be affiliated with the Division of Human Genetics and he will conduct all research in an integrated fashion with the core NF1 research group supported by the Howard Hughes Medical Institute...
  53. PERICYTES IN ANGIOGENESIS IN NEUROFIBROMATOSIS TYPE 1
    Ugur Ozerdem; Fiscal Year: 2004
    ..3) The investigators will examine the effect of the NF1-/- and NF1-/+ genotypes on microvascularization in embryonic development. The ability of NG2 ablation to rescue micro and macrovascular defects will be determined. ..
  54. MOLECULAR BIOMARKERS IN THE CLASSIFICATION OF GLIMOAS
    Peter Burger; Fiscal Year: 2000
    ..specificity of molecular changes in spectrum of pilocystic astrocytomas arising in both patients with neurofibromatosis 1 and in the general population without a recognized genetic predisposition to this common pediatric neoplasm,..
  55. Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back
    KATHERINE RAUEN; Fiscal Year: 2009
    ..Four of these syndromes, including Noonan, Costello, cardio-facio-cutaneous, and neurofibromatosis 1, all have overlapping phenotypic features characterized by distinctive facial features, cardiovascular ..
  56. Identifying Therapeutic Targets for MPNST
    Shyra Miller; Fiscal Year: 2007
    ....
  57. CHILDRENS CANCER GROUP
    Beverly Lange; Fiscal Year: 2002
    ..The first transition study seeks to define predisposing genetic risk factors in patients who have second malignant neoplasms. The interactions of CHOP and CCG are bidirectional and are mutually rewarding for both. ..
  58. Neurofibromin, Ras and BDNF/trkB Signaling
    BRUCE KRUEGER; Fiscal Year: 2005
    b>Neurofibromatosis 1 (NF1) is an autosomal dominant disorder resulting from a spontaneous or inherited loss-of-function mutation in the gene encoding the regulatory protein, neurofibromin (NF)...
  59. RESEARCH FMRI - COMPATIBLE HIGH RESOLUTION EEG/EP SYSTEM
    WILLIAM TRESCHER; Fiscal Year: 2001
    ..abstract_text> ..
  60. Ras-PI3K Pathway in Nf1-/-Hematopoiesis and Leukemia
    David Ingram; Fiscal Year: 2007
    ..abstract_text> ..
  61. Genetic Dissection of Tumor Progression in NF-1 AML
    Margaret Wallace; Fiscal Year: 2005
    ..Specific Aim 3: Characterize the gene interrupted by viral integrations at the Epi3 locus. Specific Aim 4: Identify additional Epi sites involved in tumor progression of JMML. ..
  62. Cell Signaling and Dendritic Spine Plasticity
    Gang Yi Wu; Fiscal Year: 2009
    ....
  63. Elucidation of the genetic etiology of Costello Syndrome
    KATHERINE RAUEN; Fiscal Year: 2009
    ..Furthermore, information gained from this study will increase our understanding of common pediatric issues such as congenital cardiac anomalies and neurodevelopmental delay. ..
  64. CANCER AND MORTALITY IN NEUROFIBROMATOSIS BY GENOTYPE
    John Mulvihill; Fiscal Year: 2003
    Manifestations of neurofibromatosis 1 (NF1) vary widely even within families, and progression may be rapid or static, early or late, or erratic...