Neurofibromatosis Type 1: Genetic and Cellular Mechanisms of Peripheral Nerve Tumor Formation
| Autor: | Thorsten Rosenbaum, Kevin M. Patrie, Nancy Ratner |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
0301 basic medicine
Nervous system congenital hereditary and neonatal diseases and abnormalities Cell type Pathology medicine.medical_specialty General Neuroscience Mutant Schwann cell Biology medicine.disease eye diseases nervous system diseases Neuroscientist 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine.anatomical_structure medicine Optic nerve Neurofibroma Neurology (clinical) Neurofibromatosis neoplasms 030217 neurology & neurosurgery |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 1089-4098 1073-8584 |
| DOI: | 10.1177/107385849700300614 |
| Popis: | Neurofibromatosis type 1 (NF1) is among the most common inherited human diseases. The NF1 protein is a Ras-GTPase activating protein, positioning NF1 in important intracellular signaling pathways. Patients with mutations in the NF1 gene can develop benign peripheral nerve tumors (neurofibromas), learning disabilities, and/or benign optic nerve gliomas, in addition to abnormalities unassociated with the nervous system. The NF1 gene is believed to act as a tumor suppressor. How NF1 mutations relate to benign features of NF1 is the subject of active investigation. Studies using transgenic mice with NF1 mutations and cells derived from these mice have yielded exciting new data, implicating multiple cell types mutant at NF1 and possibly factors in the environment in the pathogenesis of benign neurofibromas. NEUROSCIENTIST 3:412-420, 1997 |
| Databáze: | OpenAIRE |
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