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Current Opinion in Genetics & Development, 1995
The gene responsible for the hereditary disease neurofibromatosis type 1 (NF1) has been well characterized as a regulator of Ras protein activity. Many aspects of the disease seem to be caused by misregulation of Ras as a result of NF1 mutation. Other aspects, however, point at functions for the NF1 protein that have yet to be discovered.
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The gene responsible for the hereditary disease neurofibromatosis type 1 (NF1) has been well characterized as a regulator of Ras protein activity. Many aspects of the disease seem to be caused by misregulation of Ras as a result of NF1 mutation. Other aspects, however, point at functions for the NF1 protein that have yet to be discovered.
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The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas
neurogenetics, 2009Neurofibromatosis type 1 (NF1) is a common inherited complex multi-system disorder associated with the growth of various benign and malignant tumors. About 40% of NF1 patients develop spinal tumors, of whom some have familial spinal neurofibromatosis (FSNF), a variant form of NF1 in which patients present with multiple bilateral spinal tumors but have ...
Meena, Upadhyaya +7 more
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The handwriting performance of children with NF1
Research in Developmental Disabilities, 2010The objective of this study was to analyze the process and product of handwriting among children with Neurofibromatosis Type 1 (NF1) in comparison to those of Typically Developing (TD) children. Children with NF1 are at risk for some cognitive deficits, a wide range of deficits in perceptual skills and, motor and visual-motor integration skills which ...
Yafit, Gilboa +4 more
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Human Genetics, 2000
Neurofibromatosis type 1 (NFI) is a common autosomal dominant disorder characterised by café-au-lait spots, neurofibromas and iris hamartomas. Since the NF1 gene product neurofibromin contains a GAP-related domain involved in the down-regulation of p21(ras) oncogene activity, the NF1 gene has come to be regarded as a tumour-suppressor gene.
M P, Horan, D N, Cooper, M, Upadhyaya
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Neurofibromatosis type 1 (NFI) is a common autosomal dominant disorder characterised by café-au-lait spots, neurofibromas and iris hamartomas. Since the NF1 gene product neurofibromin contains a GAP-related domain involved in the down-regulation of p21(ras) oncogene activity, the NF1 gene has come to be regarded as a tumour-suppressor gene.
M P, Horan, D N, Cooper, M, Upadhyaya
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Electrophysiological Changes in NF1
2000Abstract : An important component of Schwann cell (SC) physiology, which has remained relatively unknown in NF1, is the electrophysiology of affected cells and the relationship of ion currents to development and maintenance of the NF1 SC phenotype. We are studying the relationship between a K channel current, functionally expressed in NF1 SC (Fieber ...
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2012
Pheochromocytoma and neurofibromatosis type 1 (NF1) are rarely observed in the same patient. However, pheochromocytoma represents a substantial manifestation of NF1 and occurs in about 3 % of affected individuals. In general, pheochromocytomas occur sporadically although they are a classic feature of numerous familial cancer syndromes ...
Birke Bausch, Hartmut P. H. Neumann
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Pheochromocytoma and neurofibromatosis type 1 (NF1) are rarely observed in the same patient. However, pheochromocytoma represents a substantial manifestation of NF1 and occurs in about 3 % of affected individuals. In general, pheochromocytomas occur sporadically although they are a classic feature of numerous familial cancer syndromes ...
Birke Bausch, Hartmut P. H. Neumann
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The NF1 Translocation Breakpoint Region
Annals of the New York Academy of Sciences, 1991The genetic locus that harbors mutation(s) responsible for neurofibromatosis type 1 (NF1) is on chromosome 17, within band q11.2. We have mapped the human homologue of a murine gene (Evi-2) that is implicated in myeloid tumors, to a location between two NF1 translocation breakpoints on chromosome 17.
P, O'Connell +5 more
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Multi‐Omics Profiling for NF1 Target Discovery in Neurofibromin (NF1) Deficient Cells
PROTEOMICS, 2019AbstractLoss of NF1 is an oncogenic driver. In efforts to define pathways responsible for the development of neurofibromas and other cancers, transcriptomic and proteomic changes are evaluated in a non‐malignant NF1 null cell line. NF1 null HEK293 cells were created using CRISPR/Cas9 technology and they are compared to parental cells that express ...
Rachel M, Carnes +6 more
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A History of von Recklinghausen's NF1
Journal of the History of the Neurosciences, 2010While the study of genetic diseases is a rather recent development in science, von Recklinghausen's neurofibromatosis (NF1) has a rich pictorial history, seemingly dating back to the thirteenth century. In 1768, Akenside published a scientifically-based description of NF1, recognizing that the monsters of scholars, such as Parè and Aldrovandi, in fact ...
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Reconstitution of the NF1 GAP-related domain in NF1-deficient human Schwann cells
Biochemical and Biophysical Research Communications, 2006Schwann cells derived from peripheral nerve sheath tumors from individuals with Neurofibromatosis Type 1 (NF1) are deficient for the protein neurofibromin, which contains a GAP-related domain (NF1-GRD). Neurofibromin-deficient Schwann cells have increased Ras activation, increased proliferation in response to certain growth stimuli, increased ...
Stacey L, Thomas +7 more
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