« Previous
Next »
Pediatric Neurology
Volume 32, Issue 4
, Pages 221-228
, April 2005
Neurofibromatosis 1: From lab bench to clinic
References
- . Epidemiology of neurofibromatosis type 1 . Am J Med Genet . 1999;89:1–6
-
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
.
J Am Med Assoc
. 1997;278:51–57
-
.
Melanotic macules in Albright’s syndrome and in neurofibromatosis
.
J Am Med Assoc
. 1968;205:618–626
- . The diagnosis of neurofibromatosis 1 in the child under the age of 6 years . Am J Dis Child . 1989;143:717–719
- . Neurofibromatosis 1 (Clinical manifestations and diagnostic criteria) . J Child Neurol . 2002;17:548–554
- . Optic pathway gliomas in children with neurofibromatosis 1 (Consensus statement from the NF1 optic pathway glioma task force) . Ann Neurol . 1997;41:143–149
- . Natural history of optic pathway tumors in children with neurofibromatosis type 1 (A longitudinal study) . J Pediatr . 1994;125:63–66
- . Intracranial gliomas in neurofibromatosis type 1 . Am J Med Genet . 1999;89:38–44
- Cognitive function and academic performance in neurofibromatosis 1 (Consensus statement from the NF1 Cognitive Disorders Task Force) . Neurology . 1997;48:1121–1127
- . Cognitive impairment in neurofibromatosis type 1 . Am J Med Genet . 1999;89:45–52
- Neurology . 1994;44:878–883
- Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis 1 . Am J Med Genet . 1996;67:98–102
- . Neuropsychological function and MRI abnormalities in neurofibromatosis type 1 in childhood . Dev Med Child Neurol . 1995;37:906–914
- . Neurofibromatosis type 1 (The cognitive phenotype) . J Pediatr . 1994;124(Suppl.):S1–S8
- . Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis . Neurology . 1996;46:1660–1668
- Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1 . Neurology . 2003;60:1139–1145
- . The significance of MRI abnormalities in children with neurofibromatosis . Neurology . 1989;39:373–378
- . Magnetic resonance imaging evaluation of learning difficulties and motor incoordination in neurofibromatosis . Neurofibromatosis . 1989;2:1–5
- Neurofibromatosis type 1 in childhood (Correlation of MRI findings with intelligence) . J Neurol Neurosurg Psychiatry . 1995;59:638–640
-
.
Pathology of nerve sheath tumors
.
Ann NY Acad Sci
. 1986;486:147–154
- . Clinic-based study of plexiform neurofibromas in neurofibromatosis 1 . Am J Med Genet . 2000;92:132–135
-
.
Von Recklinghausen neurofibromatosis
(A clinical and population study in south-east Wales)
.
Brain
. 1988;111:1355–1381
- . Plexiform neurofibromas . Am J Med Genet . 1999;89:31–37
- Plexiform neurofibromas in NF1 (Toward biologic based therapy) . Neurology . 2002;58:1461–1470
- . International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis 1 . Cancer Res . 2002;62:1573–1577
- Evaluation of 18fluorodeoxyglucose positron emission tomography (18FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1 . J Neurol Neurosurg Psychiatry . 2000;68:353–357
- Evaluation of F18-deoxyglucose positron emission tomography (FDG-PET) to assess the nature of neurogenic tumours . Eur J Surg Oncol . 2003;29:536–541
- . Neurofibromatosis type 1 . Am J Med Genet . 2000;97:119–127
- . An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1) (Evidence for modifying genes) . Am J Hum Genet . 1993;53:305–313
- cDNA cloning of the type 1 neurofibromatosis gene (Complete sequencing of the NF1 gene product) . Genomics . 1991;11:931–940
- A major segment of the neurofibromatosis type 1 gene (cDNA sequence, genomic structure and point mutations) . Cell . 1990;62:193–201
- Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus . Cell . 1990;62:187–192
-
.
Identification and characterization of the neurofibromatosis type 1 gene product
.
Proc Natl Acad Sci USA
. 1991;88:9914–9918
-
.
Identification of the neurofibromatosis type 1 gene product
.
Proc Natl Acad Sci USA
. 1991;88:9658–9662
- . The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes . Neuron . 1992;8:415–428
- Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders . N Engl J Med . 1997;336:1713–1720
- Loss of NF1 results in activation of the ras signaling pathway and leads to aberrant growth in haematopoietic cells . Nat Genet . 1996;12:144–148
-
Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis
.
Cell
. 1992;69:256–273
-
Lau N, Feldkamp MM, Roncari L, et al. Loss of neurofibromin is associated with activation of RAS/MAPK and PI3-K/AKT signaling in a neurofibromatosis 1 astrocytoma.
- . Acute presentation of a neurogenic sarcoma in a patient with neurofibromatosis type 1 (A pathological and molecular explanation) . J Neurosurg . 1996;84:867–873
- . Single cell ras-GTP analysis reveals altered ras activity in a single population of neurofibroma Schwann cells but not fibroblasts . J Biol Chem . 2000;275:30740–30745
- . Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas . Neuropathol Appl Neurobiol . 2000;26:361–367
- The neurofibromatosis type 1 gene encodes a protein related to GAP . Cell . 1990;62:599–608
- . Hyperactive Ras as a therapeutic target in Neurofibromatosis Type 1 . Am J Med Genet . 1999;89:14–22
-
.
Regulators and effectors of ras proteins
.
Ann Rev Cell Biol
. 1991;7:601–632
- . Signal transduction via ras . Biol Chem . 1998;379:933–937
- The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements IRA mutants of S. cerevisiae . Cell . 1990;63:835–841
- . NF1 tumor suppressor gene function (Narrowing the GAP) . Cell . 2001;104:593–604
- Rescue of Drosophila NF1 mutant phenotype by protein kinase A . Science . 1997;276:791–794
- . Requirement of Drosophilia NF1 for activation of adenylyl cyclase by PACAP-like neuropeptides . Science . 1997;276:795–798
-
.
The Neurofibromatosis 1 gene product neurofibromin regulates pituitary adenylate cyclase-activating polypeptide-mediated signaling in astrocytes
.
J Neurosci
. 2003;23:8949–8954
- . Differential expression and tissue distribution of type 1 and type 11 neurofibromins during mouse fetal development . Dev Biol . 1994;161:538–551
- Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues . Genes Dev . 1994;8:1019–1029
- . Regulating heart development (The role of NF1) . Cell Cycle . 2003;2:96–98
- Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain . Genes Dev . 2001;15:859–876
- . The NF1 tumor suppressor regulates mouse skin wound healing, fibroblast proliferation, and collagen deposited by fibroblasts . J Invest Dermatol . 1999;112:835–842
- Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo . J Exp Med . 2000;191:181–187
- . Neurofibromin expression and astrogliosis in neurofibromatosis (type 1) brains . J Neuropathol Exp Neurol . 1995;54:588–600
- . Haploinsufficiency for the neurofibromatosis 1 (NF1) tumor suppressor results in increased astrocyte proliferation . Oncogene . 1999;18:4450–4459
- . Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes . Hum Mol Genet . 2001;10:3009–3016
- Neurofibromatosis 1 heterozygosity results in a cell-autonomous growth advantage for astrocytes . Glia . 2001;33:314–323
- . A Neurofibromatosis-1-regulated pathway is required for learning in Drosophila . Nature . 2000;403:895–898
- Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1 . Nature . 2002;415:526–530
- . Tumour predisposition in mice heterozygous for a targeted mutation in NF1 . Nat Genet . 1994;7:353–361
-
.
Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1
.
Hum Mol Genet
. 2000;12:1059–1066
- . Tumorigenic properties of neurofibromin-deficient neurofibroma Schwann cells . Am J Pathol . 2001;158:501–513
- . NF1 deletions in S-100 protein positive and negative cells of sporadic and neurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors . Am J Pathol . 2001;159:57–61
- . Neurofibromas in NF1 (Schwann cell origin and role of tumor environment) . Science . 2002;296:920–922
- Optic nerve glioma in mice requires astrocyte Nf1 gene inactivation and Nf1 brain heterozygosity . Cancer Res . 2003;63:8573–8577
- Epidermal growth factor receptor expression in neurofibromatosis type 1-related tumors and NF1 animal models . J Clin Invest . 2000;105:1233–1241
PII: S0887-8994(04)00555-7
doi: 10.1016/j.pediatrneurol.2004.11.002
© 2005 Elsevier Inc. All rights reserved.
« Previous
Next »
Pediatric Neurology
Volume 32, Issue 4
, Pages 221-228
, April 2005
