Handbook of Neurochemistry and Molecular Neurobiology 2009
DOI: 10.1007/978-0-387-30375-8_6
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Neurofibromatosis Type I: From Genetic Mutation to Tumor Formation

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Cited by 3 publications
(2 citation statements)
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References 160 publications
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“…3 These tumors are associated with neurofibromatosis type 1 (NF1) (1,2), which is a human genetic disorder caused by mutations in the tumor suppressor gene that encodes the GTPase-activating protein neurofibromin. NF1-derived cell lines have elevated levels of receptors, such as the EGF receptor (3) and c-Kit (4), that typically are not expressed by Schwann cells.…”
Section: Neurofibromatosis Type 1-derived Schwann Cells Isolated Frommentioning
confidence: 99%
“…3 These tumors are associated with neurofibromatosis type 1 (NF1) (1,2), which is a human genetic disorder caused by mutations in the tumor suppressor gene that encodes the GTPase-activating protein neurofibromin. NF1-derived cell lines have elevated levels of receptors, such as the EGF receptor (3) and c-Kit (4), that typically are not expressed by Schwann cells.…”
Section: Neurofibromatosis Type 1-derived Schwann Cells Isolated Frommentioning
confidence: 99%
“…Our laboratory developed methods to isolate a fraction enriched in axolemma of peripheral nerves [22,70]. At this point in my career, a genetics graduate student (Karen Klein) joined my lab with a passion to study Schwann cells in the context of disease, particularly neurofibromatosis (a disease in which Schwann cells proliferate abnormally and form tumors) (see [71] for a recent review). As a result, we began a 15 year investigation by my lab into the signal transduction abnormalities which resulted in tumor formation by these aberrant Schwann cells [34,[47][48][49][72][73][74][75][76][77].…”
mentioning
confidence: 99%